Incidental Mutation 'R5374:Plch1'
| ID |
428918 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plch1
|
| Ensembl Gene |
ENSMUSG00000036834 |
| Gene Name |
phospholipase C, eta 1 |
| Synonyms |
Plcl3, PLCeta1 |
| MMRRC Submission |
042950-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.198)
|
| Stock # |
R5374 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
63603655-63806893 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 63605499 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 1468
(H1468Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000081122
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048134]
[ENSMUST00000059973]
[ENSMUST00000084105]
[ENSMUST00000159676]
[ENSMUST00000160638]
[ENSMUST00000177143]
[ENSMUST00000162269]
[ENSMUST00000175947]
|
| AlphaFold |
Q4KWH5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000048134
AA Change: H1429Q
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000047693
Gene: ENSMUSG00000036834
AA Change: H1429Q
| 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 benign
Transcript: ENSMUST00000059973
AA Change: H1467Q
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000058524
Gene: ENSMUSG00000036834
AA Change: H1467Q
| 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 benign
Transcript: ENSMUST00000084105
AA Change: H1468Q
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000081122
Gene: ENSMUSG00000036834
AA Change: H1468Q
| 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 |
noncoding transcript
Transcript: ENSMUST00000159374
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159676
|
| SMART Domains |
Protein: ENSMUSP00000124632
Gene: ENSMUSG00000036834
| 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 benign
Transcript: ENSMUST00000160638
|
| SMART Domains |
Protein: ENSMUSP00000123921
Gene: ENSMUSG00000036834
| 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 benign
Transcript: ENSMUST00000177143
AA Change: H1459Q
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000135424
Gene: ENSMUSG00000036834
AA Change: H1459Q
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162269
|
| SMART Domains |
Protein: ENSMUSP00000124463
Gene: ENSMUSG00000036834
| 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 benign
Transcript: ENSMUST00000176861
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000175947
|
| SMART Domains |
Protein: ENSMUSP00000135353
Gene: ENSMUSG00000036834
| 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 |
|
| Meta Mutation Damage Score |
0.1384 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
| Validation Efficiency |
96% (81/84) |
| 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: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
A |
G |
3: 137,773,396 (GRCm39) |
S862G |
probably benign |
Het |
| Adgrf1 |
G |
A |
17: 43,601,896 (GRCm39) |
|
probably benign |
Het |
| Adss2 |
T |
G |
1: 177,623,954 (GRCm39) |
I3L |
probably benign |
Het |
| Anapc7 |
T |
A |
5: 122,576,280 (GRCm39) |
D302E |
probably benign |
Het |
| Ank3 |
A |
G |
10: 69,789,306 (GRCm39) |
|
probably null |
Het |
| Astn2 |
A |
C |
4: 65,315,242 (GRCm39) |
V1145G |
probably damaging |
Het |
| Babam2 |
C |
T |
5: 32,164,574 (GRCm39) |
|
probably benign |
Het |
| Blvrb |
A |
G |
7: 27,165,271 (GRCm39) |
H238R |
possibly damaging |
Het |
| Cacna1b |
C |
T |
2: 24,596,228 (GRCm39) |
V488I |
probably damaging |
Het |
| Ccdc88a |
C |
T |
11: 29,413,409 (GRCm39) |
T649M |
possibly damaging |
Het |
| Cdh12 |
A |
C |
15: 21,583,998 (GRCm39) |
S613R |
probably damaging |
Het |
| Cisd2 |
A |
G |
3: 135,114,596 (GRCm39) |
V125A |
probably benign |
Het |
| Clcn2 |
C |
A |
16: 20,528,419 (GRCm39) |
G478W |
possibly damaging |
Het |
| Cntnap2 |
T |
A |
6: 47,084,903 (GRCm39) |
H1121Q |
probably benign |
Het |
| Corin |
A |
T |
5: 72,462,296 (GRCm39) |
C876S |
probably damaging |
Het |
| Cox7c |
T |
C |
13: 86,194,739 (GRCm39) |
Y19C |
probably benign |
Het |
| Cplane1 |
T |
C |
15: 8,300,287 (GRCm39) |
V3198A |
unknown |
Het |
| Cspp1 |
T |
G |
1: 10,204,351 (GRCm39) |
L1038R |
probably damaging |
Het |
| Cwc15 |
A |
G |
9: 14,416,234 (GRCm39) |
K147E |
possibly damaging |
Het |
| Dlgap2 |
A |
G |
8: 14,873,614 (GRCm39) |
D739G |
probably benign |
Het |
| Dmxl2 |
A |
G |
9: 54,276,473 (GRCm39) |
|
probably benign |
Het |
| Dock5 |
A |
G |
14: 68,043,205 (GRCm39) |
V864A |
possibly damaging |
Het |
| Dock7 |
A |
G |
4: 98,877,275 (GRCm39) |
F1088L |
possibly damaging |
Het |
| Dpysl3 |
T |
C |
18: 43,494,101 (GRCm39) |
Y193C |
probably damaging |
Het |
| Dtna |
T |
C |
18: 23,784,670 (GRCm39) |
Y730H |
probably damaging |
Het |
| Dusp3 |
A |
G |
11: 101,875,451 (GRCm39) |
Y38H |
possibly damaging |
Het |
| Eif3m |
A |
T |
2: 104,843,277 (GRCm39) |
I151N |
probably damaging |
Het |
| Entpd2 |
C |
T |
2: 25,289,738 (GRCm39) |
T380I |
probably damaging |
Het |
| Epb41l3 |
C |
A |
17: 69,593,795 (GRCm39) |
H810N |
probably damaging |
Het |
| Fcrl5 |
A |
G |
3: 87,353,698 (GRCm39) |
T348A |
probably benign |
Het |
| Ginm1 |
A |
G |
10: 7,655,078 (GRCm39) |
S55P |
probably damaging |
Het |
| Glt1d1 |
C |
A |
5: 127,734,148 (GRCm39) |
|
probably null |
Het |
| Gm15433 |
T |
A |
1: 84,941,833 (GRCm39) |
|
noncoding transcript |
Het |
| Gm8221 |
A |
G |
15: 77,510,352 (GRCm39) |
|
noncoding transcript |
Het |
| Gramd1c |
A |
G |
16: 43,803,604 (GRCm39) |
V603A |
probably benign |
Het |
| Grm1 |
A |
G |
10: 10,956,186 (GRCm39) |
S33P |
probably benign |
Het |
| Gstp3 |
T |
C |
19: 4,107,922 (GRCm39) |
N137S |
possibly damaging |
Het |
| Kdm5d |
C |
T |
Y: 927,995 (GRCm39) |
P756S |
probably benign |
Het |
| Ly75 |
A |
T |
2: 60,142,115 (GRCm39) |
L1332M |
possibly damaging |
Het |
| Med1 |
T |
A |
11: 98,054,789 (GRCm39) |
K378N |
probably damaging |
Het |
| Mn1 |
A |
G |
5: 111,569,752 (GRCm39) |
|
probably null |
Het |
| Mpo |
T |
C |
11: 87,694,437 (GRCm39) |
|
probably null |
Het |
| Nom1 |
C |
G |
5: 29,646,377 (GRCm39) |
R555G |
probably damaging |
Het |
| Nsmce4a |
C |
T |
7: 130,139,900 (GRCm39) |
R276Q |
probably benign |
Het |
| Nt5c |
G |
A |
11: 115,381,643 (GRCm39) |
|
probably null |
Het |
| Olfr908 |
CACAACAACA |
CACAACA |
9: 38,427,434 (GRCm39) |
|
probably benign |
Het |
| Or52e18 |
G |
T |
7: 104,609,203 (GRCm39) |
H245Q |
probably damaging |
Het |
| Or5p52 |
T |
C |
7: 107,502,698 (GRCm39) |
I258T |
possibly damaging |
Het |
| Pcdhga4 |
T |
C |
18: 37,818,649 (GRCm39) |
V66A |
probably damaging |
Het |
| Pik3c3 |
T |
C |
18: 30,445,614 (GRCm39) |
S534P |
probably benign |
Het |
| Pla2g4e |
A |
T |
2: 120,016,876 (GRCm39) |
C222S |
probably benign |
Het |
| Psd2 |
T |
A |
18: 36,140,556 (GRCm39) |
W610R |
probably damaging |
Het |
| Ptgs1 |
A |
T |
2: 36,141,198 (GRCm39) |
K548N |
probably damaging |
Het |
| Ptprz1 |
T |
A |
6: 23,007,354 (GRCm39) |
V1639E |
probably damaging |
Het |
| Rangap1 |
A |
T |
15: 81,590,695 (GRCm39) |
S466T |
probably benign |
Het |
| Rgsl1 |
C |
T |
1: 153,666,053 (GRCm39) |
V986I |
probably benign |
Het |
| Rhobtb3 |
T |
C |
13: 76,027,014 (GRCm39) |
Y453C |
probably damaging |
Het |
| Rspry1 |
T |
C |
8: 95,349,636 (GRCm39) |
V8A |
probably benign |
Het |
| Rspry1 |
C |
A |
8: 95,380,892 (GRCm39) |
R399S |
probably benign |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Rxfp2 |
A |
G |
5: 149,993,725 (GRCm39) |
T596A |
probably benign |
Het |
| Sap18b |
G |
A |
8: 96,551,998 (GRCm39) |
A3T |
unknown |
Het |
| Serpina3j |
A |
G |
12: 104,280,986 (GRCm39) |
D53G |
probably damaging |
Het |
| Skint3 |
T |
A |
4: 112,155,386 (GRCm39) |
D381E |
possibly damaging |
Het |
| Slirp |
T |
C |
12: 87,496,192 (GRCm39) |
S96P |
possibly damaging |
Het |
| Snx6 |
T |
C |
12: 54,817,513 (GRCm39) |
E128G |
probably damaging |
Het |
| Stap1 |
A |
G |
5: 86,238,787 (GRCm39) |
T152A |
possibly damaging |
Het |
| Tcf20 |
A |
T |
15: 82,736,158 (GRCm39) |
N1764K |
probably damaging |
Het |
| Thap2 |
A |
T |
10: 115,208,744 (GRCm39) |
Y125* |
probably null |
Het |
| Ticrr |
T |
G |
7: 79,340,690 (GRCm39) |
Y1031* |
probably null |
Het |
| Tnrc18 |
G |
A |
5: 142,725,911 (GRCm39) |
R1793C |
unknown |
Het |
| Trpm3 |
C |
T |
19: 22,903,548 (GRCm39) |
R945* |
probably null |
Het |
| Ugt1a10 |
T |
A |
1: 87,983,632 (GRCm39) |
D143E |
probably damaging |
Het |
| Ush2a |
C |
T |
1: 188,487,403 (GRCm39) |
T3057M |
probably benign |
Het |
| Zc3h6 |
A |
T |
2: 128,844,076 (GRCm39) |
I207F |
possibly damaging |
Het |
| Zfp518a |
T |
C |
19: 40,901,954 (GRCm39) |
S628P |
probably benign |
Het |
| Zup1 |
T |
C |
10: 33,803,462 (GRCm39) |
N541D |
possibly 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 |
|
R1929:Plch1
|
UTSW |
3 |
63,651,956 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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'- TTCAGTCAGGGCGTCTAAAGG -3'
(R):5'- CTACTGTAAAGAGACTCTCCTCCC -3'
Sequencing Primer
(F):5'- GGCGTCTAAAGGCTCTAATGAC -3'
(R):5'- GTAAAGAGACTCTCCTCCCTTCTG -3'
|
| Posted On |
2016-09-06 |
Incidental Mutation