Incidental Mutation 'R1929:Plch1'
| ID |
215143 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plch1
|
| Ensembl Gene |
ENSMUSG00000036834 |
| Gene Name |
phospholipase C, eta 1 |
| Synonyms |
Plcl3, PLCeta1 |
| MMRRC Submission |
039947-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.198)
|
| Stock # |
R1929 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
63603655-63806893 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 63651956 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Asparagine
at position 378
(K378N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135424
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048134]
[ENSMUST00000059973]
[ENSMUST00000084105]
[ENSMUST00000159676]
[ENSMUST00000160638]
[ENSMUST00000162269]
[ENSMUST00000175947]
[ENSMUST00000177143]
|
| AlphaFold |
Q4KWH5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000048134
AA Change: K348N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000047693
Gene: ENSMUSG00000036834
AA Change: K348N
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
3 |
112 |
2.37e-6 |
SMART |
|
EFh
|
128 |
156 |
2.41e-4 |
SMART |
|
EFh
|
164 |
193 |
1.54e-2 |
SMART |
|
Pfam:EF-hand_like
|
198 |
280 |
2.2e-26 |
PFAM |
|
PLCXc
|
281 |
426 |
3.13e-71 |
SMART |
|
low complexity region
|
440 |
453 |
N/A |
INTRINSIC |
|
low complexity region
|
564 |
581 |
N/A |
INTRINSIC |
|
PLCYc
|
583 |
696 |
3.4e-49 |
SMART |
|
C2
|
715 |
823 |
5.47e-22 |
SMART |
|
low complexity region
|
979 |
997 |
N/A |
INTRINSIC |
|
low complexity region
|
1079 |
1091 |
N/A |
INTRINSIC |
|
low complexity region
|
1420 |
1435 |
N/A |
INTRINSIC |
|
low complexity region
|
1543 |
1557 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000059973
AA Change: K366N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000058524
Gene: ENSMUSG00000036834
AA Change: K366N
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
21 |
130 |
1.1e-8 |
SMART |
|
EFh
|
146 |
174 |
1.1e-6 |
SMART |
|
EFh
|
182 |
211 |
7.6e-5 |
SMART |
|
Pfam:EF-hand_like
|
216 |
298 |
4.5e-24 |
PFAM |
|
PLCXc
|
299 |
444 |
1.6e-73 |
SMART |
|
low complexity region
|
458 |
471 |
N/A |
INTRINSIC |
|
low complexity region
|
582 |
599 |
N/A |
INTRINSIC |
|
PLCYc
|
601 |
714 |
1.7e-51 |
SMART |
|
C2
|
733 |
841 |
3.7e-24 |
SMART |
|
low complexity region
|
1017 |
1035 |
N/A |
INTRINSIC |
|
low complexity region
|
1117 |
1129 |
N/A |
INTRINSIC |
|
low complexity region
|
1458 |
1473 |
N/A |
INTRINSIC |
|
low complexity region
|
1581 |
1595 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000084105
AA Change: K366N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000081122
Gene: ENSMUSG00000036834
AA Change: K366N
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
21 |
130 |
2.37e-6 |
SMART |
|
EFh
|
146 |
174 |
2.41e-4 |
SMART |
|
EFh
|
182 |
211 |
1.54e-2 |
SMART |
|
Pfam:EF-hand_like
|
216 |
298 |
2.4e-27 |
PFAM |
|
PLCXc
|
299 |
444 |
3.13e-71 |
SMART |
|
low complexity region
|
458 |
471 |
N/A |
INTRINSIC |
|
low complexity region
|
583 |
600 |
N/A |
INTRINSIC |
|
PLCYc
|
602 |
715 |
3.4e-49 |
SMART |
|
C2
|
734 |
842 |
5.47e-22 |
SMART |
|
low complexity region
|
1018 |
1036 |
N/A |
INTRINSIC |
|
low complexity region
|
1118 |
1130 |
N/A |
INTRINSIC |
|
low complexity region
|
1459 |
1474 |
N/A |
INTRINSIC |
|
low complexity region
|
1582 |
1596 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000159676
AA Change: K366N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000124632
Gene: ENSMUSG00000036834
AA Change: K366N
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
21 |
130 |
2.37e-6 |
SMART |
|
EFh
|
146 |
174 |
2.41e-4 |
SMART |
|
EFh
|
182 |
211 |
1.54e-2 |
SMART |
|
Pfam:EF-hand_like
|
216 |
298 |
1.8e-26 |
PFAM |
|
PLCXc
|
299 |
444 |
3.13e-71 |
SMART |
|
low complexity region
|
458 |
471 |
N/A |
INTRINSIC |
|
low complexity region
|
583 |
600 |
N/A |
INTRINSIC |
|
PLCYc
|
602 |
715 |
3.4e-49 |
SMART |
|
C2
|
734 |
842 |
5.47e-22 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159982
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000160638
AA Change: K366N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000123921
Gene: ENSMUSG00000036834
AA Change: K366N
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
21 |
130 |
2.37e-6 |
SMART |
|
EFh
|
146 |
174 |
2.41e-4 |
SMART |
|
EFh
|
182 |
211 |
1.54e-2 |
SMART |
|
Pfam:EF-hand_like
|
216 |
298 |
5.3e-28 |
PFAM |
|
PLCXc
|
299 |
444 |
3.13e-71 |
SMART |
|
low complexity region
|
458 |
471 |
N/A |
INTRINSIC |
|
low complexity region
|
583 |
600 |
N/A |
INTRINSIC |
|
PLCYc
|
602 |
715 |
3.4e-49 |
SMART |
|
C2
|
734 |
842 |
5.47e-22 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000162269
AA Change: K366N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000124463
Gene: ENSMUSG00000036834
AA Change: K366N
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
21 |
130 |
2.37e-6 |
SMART |
|
EFh
|
146 |
174 |
2.41e-4 |
SMART |
|
EFh
|
182 |
211 |
1.54e-2 |
SMART |
|
Pfam:EF-hand_like
|
216 |
298 |
1.7e-26 |
PFAM |
|
PLCXc
|
299 |
444 |
3.13e-71 |
SMART |
|
low complexity region
|
458 |
471 |
N/A |
INTRINSIC |
|
low complexity region
|
583 |
600 |
N/A |
INTRINSIC |
|
PLCYc
|
602 |
715 |
3.4e-49 |
SMART |
|
C2
|
734 |
842 |
5.47e-22 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000175947
AA Change: K366N
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000135353
Gene: ENSMUSG00000036834
AA Change: K366N
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
21 |
130 |
2.37e-6 |
SMART |
|
EFh
|
146 |
174 |
2.41e-4 |
SMART |
|
EFh
|
182 |
211 |
1.54e-2 |
SMART |
|
Pfam:EF-hand_like
|
216 |
298 |
1.2e-26 |
PFAM |
|
PLCXc
|
299 |
444 |
3.13e-71 |
SMART |
|
low complexity region
|
458 |
471 |
N/A |
INTRINSIC |
|
low complexity region
|
582 |
599 |
N/A |
INTRINSIC |
|
PLCYc
|
601 |
714 |
3.4e-49 |
SMART |
|
C2
|
733 |
841 |
5.47e-22 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000177143
AA Change: K378N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000135424
Gene: ENSMUSG00000036834
AA Change: K378N
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
33 |
142 |
2.37e-6 |
SMART |
|
EFh
|
158 |
186 |
2.41e-4 |
SMART |
|
EFh
|
194 |
223 |
1.54e-2 |
SMART |
|
Pfam:EF-hand_like
|
228 |
310 |
2.3e-26 |
PFAM |
|
PLCXc
|
311 |
456 |
3.13e-71 |
SMART |
|
low complexity region
|
470 |
483 |
N/A |
INTRINSIC |
|
low complexity region
|
594 |
611 |
N/A |
INTRINSIC |
|
PLCYc
|
613 |
726 |
3.4e-49 |
SMART |
|
C2
|
745 |
853 |
5.47e-22 |
SMART |
|
low complexity region
|
1009 |
1027 |
N/A |
INTRINSIC |
|
low complexity region
|
1109 |
1121 |
N/A |
INTRINSIC |
|
low complexity region
|
1450 |
1465 |
N/A |
INTRINSIC |
|
low complexity region
|
1573 |
1587 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.5083 |
| Coding Region Coverage |
- 1x: 97.5%
- 3x: 96.9%
- 10x: 95.3%
- 20x: 92.4%
|
| Validation Efficiency |
98% (107/109) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] PLCH1 is a member of the PLC-eta family of the phosphoinositide-specific phospholipase C (PLC) superfamily of enzymes that cleave phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2) to generate second messengers inositol 1,4,5-trisphosphate (IP3) and diacylglycerol (DAG) (Hwang et al., 2005 [PubMed 15702972]).[supplied by OMIM, Jun 2009]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 103 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy10 |
A |
T |
1: 165,337,866 (GRCm39) |
E160V |
probably damaging |
Het |
| Amdhd2 |
T |
C |
17: 24,376,860 (GRCm39) |
|
probably null |
Het |
| Angel1 |
A |
C |
12: 86,749,093 (GRCm39) |
L656V |
probably damaging |
Het |
| Ankrd12 |
G |
A |
17: 66,293,681 (GRCm39) |
S584L |
possibly damaging |
Het |
| Apbb2 |
T |
A |
5: 66,464,958 (GRCm39) |
N679Y |
probably benign |
Het |
| Arid3c |
T |
A |
4: 41,724,744 (GRCm39) |
I364F |
probably damaging |
Het |
| Bcan |
T |
A |
3: 87,900,401 (GRCm39) |
S611C |
probably damaging |
Het |
| Bnip3 |
T |
G |
7: 138,496,359 (GRCm39) |
|
silent |
Het |
| Btc |
T |
C |
5: 91,510,260 (GRCm39) |
Y111C |
probably damaging |
Het |
| Carnmt1 |
T |
C |
19: 18,680,734 (GRCm39) |
L336P |
probably damaging |
Het |
| Ccdc83 |
C |
T |
7: 89,873,285 (GRCm39) |
V357I |
probably damaging |
Het |
| Cd2bp2 |
T |
C |
7: 126,793,050 (GRCm39) |
D324G |
probably benign |
Het |
| Cdc20b |
A |
G |
13: 113,208,451 (GRCm39) |
T216A |
probably benign |
Het |
| Cdk17 |
T |
C |
10: 93,064,540 (GRCm39) |
Y270H |
probably damaging |
Het |
| Cenpv |
T |
C |
11: 62,416,059 (GRCm39) |
E230G |
probably benign |
Het |
| Chst11 |
T |
C |
10: 83,027,004 (GRCm39) |
Y144H |
probably damaging |
Het |
| Cracr2a |
T |
A |
6: 127,584,261 (GRCm39) |
F107I |
probably damaging |
Het |
| Cyfip1 |
G |
T |
7: 55,549,705 (GRCm39) |
R624L |
probably null |
Het |
| Cyp27b1 |
T |
A |
10: 126,884,181 (GRCm39) |
V11D |
probably damaging |
Het |
| Ddc |
T |
C |
11: 11,785,764 (GRCm39) |
N308D |
probably damaging |
Het |
| Des |
T |
G |
1: 75,340,137 (GRCm39) |
M348R |
probably damaging |
Het |
| Dis3l |
T |
A |
9: 64,238,165 (GRCm39) |
D109V |
probably damaging |
Het |
| Dnah3 |
T |
A |
7: 119,574,352 (GRCm39) |
I2136F |
probably benign |
Het |
| Dnah9 |
T |
C |
11: 65,867,224 (GRCm39) |
S2785G |
probably benign |
Het |
| Dop1a |
T |
G |
9: 86,376,471 (GRCm39) |
V235G |
probably damaging |
Het |
| Dtx3l |
A |
T |
16: 35,754,059 (GRCm39) |
D182E |
possibly damaging |
Het |
| Efcab6 |
A |
G |
15: 83,777,163 (GRCm39) |
|
probably benign |
Het |
| Elac2 |
T |
A |
11: 64,870,015 (GRCm39) |
S27T |
probably benign |
Het |
| Emsy |
T |
G |
7: 98,275,830 (GRCm39) |
K352N |
probably damaging |
Het |
| Erbb4 |
T |
C |
1: 68,238,047 (GRCm39) |
N814S |
probably damaging |
Het |
| Fgd6 |
T |
C |
10: 93,880,868 (GRCm39) |
V574A |
probably benign |
Het |
| Filip1 |
T |
C |
9: 79,727,212 (GRCm39) |
E469G |
probably damaging |
Het |
| Fmo1 |
A |
T |
1: 162,661,424 (GRCm39) |
D286E |
probably damaging |
Het |
| Fmo4 |
A |
T |
1: 162,626,616 (GRCm39) |
I310N |
possibly damaging |
Het |
| Focad |
A |
G |
4: 88,260,449 (GRCm39) |
N902D |
unknown |
Het |
| Focad |
A |
G |
4: 88,315,416 (GRCm39) |
S1525G |
probably benign |
Het |
| Fras1 |
T |
C |
5: 96,815,296 (GRCm39) |
W1338R |
probably benign |
Het |
| Fry |
A |
G |
5: 150,324,389 (GRCm39) |
I1151V |
probably null |
Het |
| Garin5b |
T |
A |
7: 4,761,186 (GRCm39) |
T509S |
probably benign |
Het |
| Gm10076 |
T |
G |
14: 105,919,304 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5698 |
T |
G |
1: 31,017,042 (GRCm39) |
D3A |
probably damaging |
Het |
| Gngt2 |
C |
T |
11: 95,735,972 (GRCm39) |
|
probably benign |
Het |
| Gsdma |
T |
C |
11: 98,562,193 (GRCm39) |
|
probably null |
Het |
| Gtf2h3 |
A |
T |
5: 124,740,262 (GRCm39) |
|
probably benign |
Het |
| Hkdc1 |
T |
C |
10: 62,253,677 (GRCm39) |
T35A |
probably benign |
Het |
| Irs1 |
T |
C |
1: 82,266,180 (GRCm39) |
S679G |
probably benign |
Het |
| Itpr1 |
T |
A |
6: 108,470,716 (GRCm39) |
C2214S |
probably damaging |
Het |
| Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 53,032,934 (GRCm39) |
74 |
probably benign |
Het |
| Kcnk16 |
A |
G |
14: 20,315,347 (GRCm39) |
V72A |
probably damaging |
Het |
| Lipa |
T |
A |
19: 34,488,290 (GRCm39) |
R119* |
probably null |
Het |
| Matr3 |
T |
A |
18: 35,721,378 (GRCm39) |
|
probably benign |
Het |
| Med13l |
T |
G |
5: 118,866,898 (GRCm39) |
F651V |
probably benign |
Het |
| Mfsd11 |
T |
C |
11: 116,764,740 (GRCm39) |
V388A |
probably benign |
Het |
| Mki67 |
C |
T |
7: 135,299,794 (GRCm39) |
V1747I |
possibly damaging |
Het |
| Mms22l |
T |
C |
4: 24,535,936 (GRCm39) |
|
probably benign |
Het |
| Msh5 |
A |
G |
17: 35,263,366 (GRCm39) |
I154T |
probably benign |
Het |
| Myo5b |
G |
T |
18: 74,866,996 (GRCm39) |
L1382F |
probably damaging |
Het |
| Ncbp2 |
T |
C |
16: 31,775,769 (GRCm39) |
Y138H |
probably damaging |
Het |
| Ndufv1 |
C |
A |
19: 4,058,347 (GRCm39) |
R359L |
probably benign |
Het |
| Ntrk3 |
A |
C |
7: 78,166,471 (GRCm39) |
|
probably null |
Het |
| Or1e1c |
T |
A |
11: 73,266,427 (GRCm39) |
V287E |
probably damaging |
Het |
| Or4a15 |
A |
G |
2: 89,193,353 (GRCm39) |
V140A |
probably benign |
Het |
| Or8b12i |
T |
A |
9: 20,082,705 (GRCm39) |
H54L |
possibly damaging |
Het |
| P4ha1 |
A |
G |
10: 59,206,859 (GRCm39) |
E523G |
probably damaging |
Het |
| Per3 |
T |
A |
4: 151,103,342 (GRCm39) |
Y530F |
probably damaging |
Het |
| Pes1 |
C |
A |
11: 3,919,524 (GRCm39) |
L66I |
probably damaging |
Het |
| Pigr |
G |
A |
1: 130,774,399 (GRCm39) |
|
probably benign |
Het |
| Pkd1l1 |
A |
T |
11: 8,786,197 (GRCm39) |
|
probably benign |
Het |
| Plxnb1 |
T |
C |
9: 108,931,776 (GRCm39) |
|
probably null |
Het |
| Pramel22 |
G |
A |
4: 143,380,712 (GRCm39) |
T437I |
probably damaging |
Het |
| Prkdc |
A |
G |
16: 15,472,681 (GRCm39) |
|
probably null |
Het |
| Prrc1 |
G |
T |
18: 57,514,718 (GRCm39) |
D312Y |
probably damaging |
Het |
| Psma5-ps |
A |
G |
10: 85,149,595 (GRCm39) |
|
noncoding transcript |
Het |
| Rab3gap2 |
T |
A |
1: 185,015,739 (GRCm39) |
|
probably null |
Het |
| Rgs3 |
A |
G |
4: 62,620,384 (GRCm39) |
I537V |
probably damaging |
Het |
| Rhobtb2 |
T |
G |
14: 70,033,893 (GRCm39) |
D444A |
probably damaging |
Het |
| Rnf40 |
T |
C |
7: 127,190,956 (GRCm39) |
S314P |
probably damaging |
Het |
| Rngtt |
T |
A |
4: 33,500,302 (GRCm39) |
C565* |
probably null |
Het |
| Samd3 |
A |
G |
10: 26,139,884 (GRCm39) |
|
probably benign |
Het |
| Sec61a2 |
A |
G |
2: 5,878,547 (GRCm39) |
|
probably benign |
Het |
| Serpina3m |
G |
A |
12: 104,355,581 (GRCm39) |
A83T |
probably damaging |
Het |
| Serpinb13 |
A |
T |
1: 106,926,756 (GRCm39) |
I251L |
possibly damaging |
Het |
| Sez6 |
C |
T |
11: 77,863,758 (GRCm39) |
T439I |
probably damaging |
Het |
| Shc1 |
G |
A |
3: 89,330,849 (GRCm39) |
G91S |
probably damaging |
Het |
| Slc26a2 |
A |
G |
18: 61,331,650 (GRCm39) |
C594R |
possibly damaging |
Het |
| Specc1l |
C |
T |
10: 75,081,438 (GRCm39) |
S278F |
probably damaging |
Het |
| Spg11 |
C |
T |
2: 121,890,688 (GRCm39) |
V2044M |
probably damaging |
Het |
| Stx18 |
T |
A |
5: 38,285,383 (GRCm39) |
|
probably null |
Het |
| Suclg2 |
T |
C |
6: 95,566,075 (GRCm39) |
|
probably benign |
Het |
| Tlr4 |
A |
T |
4: 66,757,681 (GRCm39) |
H158L |
probably damaging |
Het |
| Tmem131 |
A |
G |
1: 36,851,352 (GRCm39) |
V966A |
possibly damaging |
Het |
| Tram1l1 |
T |
A |
3: 124,115,635 (GRCm39) |
I265N |
probably damaging |
Het |
| Trim58 |
T |
A |
11: 58,531,493 (GRCm39) |
F67Y |
possibly damaging |
Het |
| Ttc19 |
A |
G |
11: 62,172,650 (GRCm39) |
Q74R |
probably benign |
Het |
| Usp7 |
T |
C |
16: 8,516,333 (GRCm39) |
S649G |
probably benign |
Het |
| Vmn2r16 |
A |
G |
5: 109,487,124 (GRCm39) |
Y115C |
possibly damaging |
Het |
| Zfp444 |
T |
C |
7: 6,192,554 (GRCm39) |
C191R |
probably damaging |
Het |
| Zfp451 |
A |
G |
1: 33,821,274 (GRCm39) |
F151L |
probably damaging |
Het |
| Zfp451 |
G |
A |
1: 33,822,937 (GRCm39) |
P99S |
probably benign |
Het |
| Zfp729b |
A |
T |
13: 67,740,352 (GRCm39) |
C648S |
probably damaging |
Het |
| Zfp799 |
A |
G |
17: 33,040,777 (GRCm39) |
Y58H |
probably damaging |
Het |
| Zfp804b |
A |
G |
5: 6,819,748 (GRCm39) |
V1069A |
probably benign |
Het |
| Zfp938 |
C |
T |
10: 82,061,381 (GRCm39) |
G413D |
probably damaging |
Het |
|
| Other mutations in Plch1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01397:Plch1
|
APN |
3 |
63,639,150 (GRCm39) |
splice site |
probably null |
|
|
IGL01542:Plch1
|
APN |
3 |
63,639,070 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01999:Plch1
|
APN |
3 |
63,660,728 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02153:Plch1
|
APN |
3 |
63,688,772 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02203:Plch1
|
APN |
3 |
63,606,160 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
IGL02220:Plch1
|
APN |
3 |
63,606,382 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02259:Plch1
|
APN |
3 |
63,630,170 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02268:Plch1
|
APN |
3 |
63,606,704 (GRCm39) |
makesense |
probably null |
|
|
IGL02411:Plch1
|
APN |
3 |
63,605,177 (GRCm39) |
splice site |
probably null |
|
|
IGL02472:Plch1
|
APN |
3 |
63,609,270 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02477:Plch1
|
APN |
3 |
63,660,714 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02503:Plch1
|
APN |
3 |
63,605,285 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02800:Plch1
|
APN |
3 |
63,605,899 (GRCm39) |
missense |
probably benign |
0.21 |
|
IGL03167:Plch1
|
APN |
3 |
63,630,165 (GRCm39) |
splice site |
probably benign |
|
|
IGL03182:Plch1
|
APN |
3 |
63,610,015 (GRCm39) |
nonsense |
probably null |
|
|
IGL03197:Plch1
|
APN |
3 |
63,660,591 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03251:Plch1
|
APN |
3 |
63,691,423 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
BB009:Plch1
|
UTSW |
3 |
63,609,402 (GRCm39) |
missense |
probably benign |
0.05 |
|
BB019:Plch1
|
UTSW |
3 |
63,609,402 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0335:Plch1
|
UTSW |
3 |
63,618,399 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0347:Plch1
|
UTSW |
3 |
63,660,737 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0631:Plch1
|
UTSW |
3 |
63,606,640 (GRCm39) |
missense |
probably benign |
0.23 |
|
R0687:Plch1
|
UTSW |
3 |
63,623,450 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0738:Plch1
|
UTSW |
3 |
63,609,974 (GRCm39) |
intron |
probably benign |
|
|
R0883:Plch1
|
UTSW |
3 |
63,660,677 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1437:Plch1
|
UTSW |
3 |
63,604,954 (GRCm39) |
missense |
probably benign |
0.37 |
|
R1678:Plch1
|
UTSW |
3 |
63,648,115 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1738:Plch1
|
UTSW |
3 |
63,626,659 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1955:Plch1
|
UTSW |
3 |
63,662,688 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2078:Plch1
|
UTSW |
3 |
63,609,364 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2112:Plch1
|
UTSW |
3 |
63,630,227 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2158:Plch1
|
UTSW |
3 |
63,628,655 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2165:Plch1
|
UTSW |
3 |
63,605,903 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2259:Plch1
|
UTSW |
3 |
63,605,398 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2271:Plch1
|
UTSW |
3 |
63,651,956 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3110:Plch1
|
UTSW |
3 |
63,616,952 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3112:Plch1
|
UTSW |
3 |
63,616,952 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3407:Plch1
|
UTSW |
3 |
63,606,768 (GRCm39) |
unclassified |
probably benign |
|
|
R3408:Plch1
|
UTSW |
3 |
63,606,768 (GRCm39) |
unclassified |
probably benign |
|
|
R3791:Plch1
|
UTSW |
3 |
63,606,944 (GRCm39) |
missense |
probably benign |
|
|
R3793:Plch1
|
UTSW |
3 |
63,605,252 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R3928:Plch1
|
UTSW |
3 |
63,675,044 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4211:Plch1
|
UTSW |
3 |
63,618,640 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4212:Plch1
|
UTSW |
3 |
63,778,180 (GRCm39) |
start gained |
probably benign |
|
|
R4223:Plch1
|
UTSW |
3 |
63,609,321 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4491:Plch1
|
UTSW |
3 |
63,648,160 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4589:Plch1
|
UTSW |
3 |
63,688,928 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4656:Plch1
|
UTSW |
3 |
63,611,598 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4701:Plch1
|
UTSW |
3 |
63,606,917 (GRCm39) |
splice site |
probably null |
|
|
R4716:Plch1
|
UTSW |
3 |
63,688,967 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4772:Plch1
|
UTSW |
3 |
63,660,746 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4902:Plch1
|
UTSW |
3 |
63,648,264 (GRCm39) |
intron |
probably benign |
|
|
R5058:Plch1
|
UTSW |
3 |
63,630,202 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5092:Plch1
|
UTSW |
3 |
63,606,131 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5093:Plch1
|
UTSW |
3 |
63,681,136 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5210:Plch1
|
UTSW |
3 |
63,607,199 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5368:Plch1
|
UTSW |
3 |
63,609,394 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5373:Plch1
|
UTSW |
3 |
63,605,499 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5374:Plch1
|
UTSW |
3 |
63,605,499 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5501:Plch1
|
UTSW |
3 |
63,615,162 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5606:Plch1
|
UTSW |
3 |
63,648,108 (GRCm39) |
missense |
probably benign |
0.35 |
|
R5738:Plch1
|
UTSW |
3 |
63,681,076 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5835:Plch1
|
UTSW |
3 |
63,604,943 (GRCm39) |
missense |
probably benign |
|
|
R6106:Plch1
|
UTSW |
3 |
63,609,444 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6107:Plch1
|
UTSW |
3 |
63,609,444 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6108:Plch1
|
UTSW |
3 |
63,609,444 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6110:Plch1
|
UTSW |
3 |
63,606,279 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R6116:Plch1
|
UTSW |
3 |
63,609,444 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6147:Plch1
|
UTSW |
3 |
63,630,302 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6195:Plch1
|
UTSW |
3 |
63,648,210 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6315:Plch1
|
UTSW |
3 |
63,688,811 (GRCm39) |
nonsense |
probably null |
|
|
R6316:Plch1
|
UTSW |
3 |
63,688,811 (GRCm39) |
nonsense |
probably null |
|
|
R6317:Plch1
|
UTSW |
3 |
63,688,811 (GRCm39) |
nonsense |
probably null |
|
|
R6318:Plch1
|
UTSW |
3 |
63,688,811 (GRCm39) |
nonsense |
probably null |
|
|
R6324:Plch1
|
UTSW |
3 |
63,688,811 (GRCm39) |
nonsense |
probably null |
|
|
R6325:Plch1
|
UTSW |
3 |
63,688,811 (GRCm39) |
nonsense |
probably null |
|
|
R6326:Plch1
|
UTSW |
3 |
63,688,811 (GRCm39) |
nonsense |
probably null |
|
|
R6479:Plch1
|
UTSW |
3 |
63,651,931 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6544:Plch1
|
UTSW |
3 |
63,758,399 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6767:Plch1
|
UTSW |
3 |
63,662,765 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6829:Plch1
|
UTSW |
3 |
63,604,939 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6891:Plch1
|
UTSW |
3 |
63,605,504 (GRCm39) |
missense |
probably benign |
|
|
R6893:Plch1
|
UTSW |
3 |
63,660,562 (GRCm39) |
nonsense |
probably null |
|
|
R6921:Plch1
|
UTSW |
3 |
63,615,155 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7298:Plch1
|
UTSW |
3 |
63,623,458 (GRCm39) |
nonsense |
probably null |
|
|
R7396:Plch1
|
UTSW |
3 |
63,606,375 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7420:Plch1
|
UTSW |
3 |
63,630,278 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7566:Plch1
|
UTSW |
3 |
63,688,663 (GRCm39) |
splice site |
probably null |
|
|
R7572:Plch1
|
UTSW |
3 |
63,648,105 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7649:Plch1
|
UTSW |
3 |
63,605,590 (GRCm39) |
nonsense |
probably null |
|
|
R7696:Plch1
|
UTSW |
3 |
63,662,726 (GRCm39) |
missense |
probably benign |
|
|
R7851:Plch1
|
UTSW |
3 |
63,605,855 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7853:Plch1
|
UTSW |
3 |
63,681,068 (GRCm39) |
missense |
probably benign |
0.44 |
|
R7932:Plch1
|
UTSW |
3 |
63,609,402 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7983:Plch1
|
UTSW |
3 |
63,615,164 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8057:Plch1
|
UTSW |
3 |
63,605,557 (GRCm39) |
missense |
probably benign |
|
|
R8066:Plch1
|
UTSW |
3 |
63,618,478 (GRCm39) |
nonsense |
probably null |
|
|
R8206:Plch1
|
UTSW |
3 |
63,610,047 (GRCm39) |
splice site |
probably null |
|
|
R8678:Plch1
|
UTSW |
3 |
63,623,468 (GRCm39) |
nonsense |
probably null |
|
|
R8731:Plch1
|
UTSW |
3 |
63,605,059 (GRCm39) |
missense |
probably benign |
0.37 |
|
R8739:Plch1
|
UTSW |
3 |
63,778,106 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R8853:Plch1
|
UTSW |
3 |
63,688,967 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8875:Plch1
|
UTSW |
3 |
63,618,391 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8945:Plch1
|
UTSW |
3 |
63,639,039 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8947:Plch1
|
UTSW |
3 |
63,691,547 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8953:Plch1
|
UTSW |
3 |
63,639,126 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9065:Plch1
|
UTSW |
3 |
63,674,924 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9068:Plch1
|
UTSW |
3 |
63,612,036 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9188:Plch1
|
UTSW |
3 |
63,639,075 (GRCm39) |
missense |
probably null |
1.00 |
|
R9238:Plch1
|
UTSW |
3 |
63,606,412 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R9478:Plch1
|
UTSW |
3 |
63,606,825 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9526:Plch1
|
UTSW |
3 |
63,758,549 (GRCm39) |
intron |
probably benign |
|
|
R9539:Plch1
|
UTSW |
3 |
63,691,427 (GRCm39) |
missense |
probably null |
0.01 |
|
R9634:Plch1
|
UTSW |
3 |
63,605,152 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9643:Plch1
|
UTSW |
3 |
63,660,747 (GRCm39) |
missense |
|
|
|
R9659:Plch1
|
UTSW |
3 |
63,681,136 (GRCm39) |
missense |
probably benign |
0.17 |
|
R9711:Plch1
|
UTSW |
3 |
63,615,176 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9788:Plch1
|
UTSW |
3 |
63,681,136 (GRCm39) |
missense |
probably benign |
0.17 |
|
R9799:Plch1
|
UTSW |
3 |
63,605,591 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
RF018:Plch1
|
UTSW |
3 |
63,628,636 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0028:Plch1
|
UTSW |
3 |
63,651,930 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
| Predicted Primers |
PCR Primer
(F):5'- CATCTAATCGTTGCTGGGAGCTG -3'
(R):5'- CTCCTAAAGTATGCCAGAATGTTC -3'
Sequencing Primer
(F):5'- CTGGAAGAGAGCTGCGGC -3'
(R):5'- CTAAAGTATGCCAGAATGTTCAATTC -3'
|
| Posted On |
2014-07-14 |
Incidental Mutation