Incidental Mutation 'R8947:Plch1'
| ID |
681351 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plch1
|
| Ensembl Gene |
ENSMUSG00000036834 |
| Gene Name |
phospholipase C, eta 1 |
| Synonyms |
Plcl3, PLCeta1 |
| MMRRC Submission |
068785-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.198)
|
| Stock # |
R8947 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
63603655-63806893 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 63691547 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 31
(M31L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135424
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048134]
[ENSMUST00000059973]
[ENSMUST00000084105]
[ENSMUST00000159188]
[ENSMUST00000159676]
[ENSMUST00000160638]
[ENSMUST00000162269]
[ENSMUST00000175947]
[ENSMUST00000177143]
|
| AlphaFold |
Q4KWH5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000048134
AA Change: M1L
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000047693
Gene: ENSMUSG00000036834
AA Change: M1L
| 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: M19L
PolyPhen 2
Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000058524
Gene: ENSMUSG00000036834
AA Change: M19L
| 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: M19L
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000081122
Gene: ENSMUSG00000036834
AA Change: M19L
| 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: ENSMUST00000159188
AA Change: M31L
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000124491
Gene: ENSMUSG00000036834
AA Change: M31L
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1mai__
|
28 |
135 |
2e-29 |
SMART |
|
PDB:1MAI|A
|
31 |
135 |
1e-5 |
PDB |
|
Blast:PH
|
33 |
135 |
1e-72 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159676
AA Change: M19L
PolyPhen 2
Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000124632
Gene: ENSMUSG00000036834
AA Change: M19L
| 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 |
probably benign
Transcript: ENSMUST00000160638
AA Change: M19L
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000123921
Gene: ENSMUSG00000036834
AA Change: M19L
| 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: ENSMUST00000162269
AA Change: M19L
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000124463
Gene: ENSMUSG00000036834
AA Change: M19L
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000135353
Gene: ENSMUSG00000036834
AA Change: M19L
| 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: M31L
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000135424
Gene: ENSMUSG00000036834
AA Change: M31L
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
99% (93/94) |
| 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: 97 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930562C15Rik |
T |
A |
16: 4,665,292 (GRCm39) |
F141L |
unknown |
Het |
| A2ml1 |
G |
T |
6: 128,529,219 (GRCm39) |
N974K |
probably damaging |
Het |
| Abcg8 |
T |
C |
17: 84,999,246 (GRCm39) |
L114P |
probably damaging |
Het |
| Akt3 |
A |
T |
1: 176,958,645 (GRCm39) |
W22R |
probably damaging |
Het |
| Ank2 |
C |
T |
3: 126,736,396 (GRCm39) |
|
probably benign |
Het |
| Ap1g1 |
C |
T |
8: 110,589,964 (GRCm39) |
|
probably benign |
Het |
| Arhgef19 |
T |
A |
4: 140,973,618 (GRCm39) |
V35E |
possibly damaging |
Het |
| Baz2b |
T |
C |
2: 59,778,583 (GRCm39) |
D759G |
probably benign |
Het |
| BC051665 |
C |
A |
13: 60,930,004 (GRCm39) |
G320W |
probably damaging |
Het |
| Bche |
T |
A |
3: 73,608,761 (GRCm39) |
T222S |
probably damaging |
Het |
| C8a |
T |
C |
4: 104,679,326 (GRCm39) |
D444G |
probably damaging |
Het |
| Cacna1e |
A |
T |
1: 154,277,896 (GRCm39) |
S2019T |
probably benign |
Het |
| Carm1 |
T |
C |
9: 21,497,749 (GRCm39) |
I373T |
probably damaging |
Het |
| Ccdc39 |
T |
C |
3: 33,869,609 (GRCm39) |
|
probably benign |
Het |
| Clic5 |
A |
T |
17: 44,553,148 (GRCm39) |
|
probably benign |
Het |
| Cntn3 |
A |
G |
6: 102,414,864 (GRCm39) |
F28L |
probably damaging |
Het |
| Col6a5 |
C |
T |
9: 105,822,833 (GRCm39) |
E175K |
unknown |
Het |
| Cpb2 |
T |
C |
14: 75,515,627 (GRCm39) |
Y352H |
probably damaging |
Het |
| Cpeb3 |
A |
T |
19: 37,152,366 (GRCm39) |
D3E |
probably damaging |
Het |
| Ctsl |
T |
C |
13: 64,514,840 (GRCm39) |
T155A |
probably damaging |
Het |
| Cygb |
C |
T |
11: 116,540,645 (GRCm39) |
A114T |
probably damaging |
Het |
| Cyp11a1 |
T |
C |
9: 57,924,738 (GRCm39) |
V17A |
probably benign |
Het |
| Dhcr7 |
T |
G |
7: 143,400,959 (GRCm39) |
I374S |
probably damaging |
Het |
| Dhx36 |
T |
C |
3: 62,380,387 (GRCm39) |
R807G |
probably benign |
Het |
| Diaph1 |
A |
T |
18: 37,986,754 (GRCm39) |
V1077E |
probably damaging |
Het |
| Ehmt2 |
A |
G |
17: 35,127,280 (GRCm39) |
E131G |
possibly damaging |
Het |
| Evpl |
A |
G |
11: 116,112,164 (GRCm39) |
I1842T |
probably damaging |
Het |
| Fastk |
C |
A |
5: 24,646,649 (GRCm39) |
C294F |
probably damaging |
Het |
| Fndc5 |
T |
C |
4: 129,030,929 (GRCm39) |
C20R |
probably benign |
Het |
| Gm7298 |
C |
A |
6: 121,757,553 (GRCm39) |
Q1053K |
possibly damaging |
Het |
| Gm8362 |
A |
G |
14: 18,151,405 (GRCm39) |
|
probably null |
Het |
| Gmps |
T |
A |
3: 63,906,098 (GRCm39) |
I465N |
probably damaging |
Het |
| Heatr4 |
T |
G |
12: 84,001,431 (GRCm39) |
M904L |
probably benign |
Het |
| Hhip |
T |
A |
8: 80,771,785 (GRCm39) |
D175V |
probably damaging |
Het |
| Hmcn2 |
G |
A |
2: 31,278,220 (GRCm39) |
V1641M |
probably damaging |
Het |
| Hoxa5 |
T |
G |
6: 52,179,776 (GRCm39) |
T200P |
probably damaging |
Het |
| Ift122 |
C |
A |
6: 115,901,368 (GRCm39) |
A1050D |
probably benign |
Het |
| Igf2bp2 |
C |
A |
16: 21,897,473 (GRCm39) |
E247* |
probably null |
Het |
| Irak1bp1 |
T |
A |
9: 82,728,846 (GRCm39) |
L259H |
probably damaging |
Het |
| Irgm1 |
G |
A |
11: 48,759,575 (GRCm39) |
|
probably benign |
Het |
| Itih1 |
A |
T |
14: 30,657,866 (GRCm39) |
|
probably benign |
Het |
| Itpk1 |
A |
T |
12: 102,536,582 (GRCm39) |
C355S |
probably benign |
Het |
| Kcng4 |
T |
C |
8: 120,352,452 (GRCm39) |
E486G |
possibly damaging |
Het |
| Kif20b |
T |
C |
19: 34,918,629 (GRCm39) |
V671A |
possibly damaging |
Het |
| Kif28 |
T |
G |
1: 179,544,320 (GRCm39) |
I345L |
possibly damaging |
Het |
| Klri2 |
C |
G |
6: 129,710,742 (GRCm39) |
|
probably null |
Het |
| Kntc1 |
T |
C |
5: 123,925,041 (GRCm39) |
V1118A |
probably benign |
Het |
| Lpin2 |
T |
A |
17: 71,511,871 (GRCm39) |
I34N |
probably benign |
Het |
| Lrch3 |
T |
A |
16: 32,802,199 (GRCm39) |
V264D |
possibly damaging |
Het |
| Lrrk2 |
C |
T |
15: 91,586,473 (GRCm39) |
Q430* |
probably null |
Het |
| Map10 |
T |
G |
8: 126,397,839 (GRCm39) |
S411A |
probably benign |
Het |
| Map1a |
A |
T |
2: 121,135,450 (GRCm39) |
I2089F |
probably benign |
Het |
| Med12l |
T |
A |
3: 58,984,443 (GRCm39) |
|
probably benign |
Het |
| Mypn |
T |
A |
10: 63,005,156 (GRCm39) |
Q317L |
probably damaging |
Het |
| Ncan |
T |
A |
8: 70,555,171 (GRCm39) |
I999F |
probably damaging |
Het |
| Nmrk2 |
C |
A |
10: 81,035,539 (GRCm39) |
R134L |
probably damaging |
Het |
| Or4k42 |
C |
T |
2: 111,320,042 (GRCm39) |
V154I |
probably benign |
Het |
| Or51f1d |
T |
A |
7: 102,701,315 (GRCm39) |
V270E |
probably damaging |
Het |
| Or5k17 |
T |
C |
16: 58,746,433 (GRCm39) |
N167S |
probably benign |
Het |
| Or6z7 |
A |
G |
7: 6,483,246 (GRCm39) |
V303A |
probably benign |
Het |
| Or8b1c |
T |
A |
9: 38,384,685 (GRCm39) |
I214N |
probably damaging |
Het |
| Osbpl1a |
A |
G |
18: 12,899,858 (GRCm39) |
|
probably null |
Het |
| Pcdh1 |
T |
C |
18: 38,332,073 (GRCm39) |
D310G |
possibly damaging |
Het |
| Pkn2 |
C |
T |
3: 142,517,674 (GRCm39) |
|
probably null |
Het |
| Polg2 |
A |
G |
11: 106,659,170 (GRCm39) |
F448L |
probably damaging |
Het |
| Ppp4r3b |
A |
G |
11: 29,150,758 (GRCm39) |
T475A |
possibly damaging |
Het |
| Prdm13 |
C |
T |
4: 21,678,817 (GRCm39) |
E558K |
probably damaging |
Het |
| Prdm9 |
T |
A |
17: 15,764,270 (GRCm39) |
I837F |
possibly damaging |
Het |
| R3hdm1 |
T |
A |
1: 128,102,694 (GRCm39) |
M125K |
possibly damaging |
Het |
| Rbm39 |
A |
T |
2: 155,990,276 (GRCm39) |
V468E |
probably damaging |
Het |
| Rnasel |
T |
A |
1: 153,630,777 (GRCm39) |
V431E |
probably damaging |
Het |
| Rps2 |
T |
A |
17: 24,940,227 (GRCm39) |
D220E |
probably benign |
Het |
| Rsf1 |
T |
C |
7: 97,331,059 (GRCm39) |
|
probably benign |
Het |
| Rsph10b |
G |
T |
5: 143,913,952 (GRCm39) |
A710S |
probably benign |
Het |
| Sez6 |
A |
T |
11: 77,844,353 (GRCm39) |
T59S |
probably damaging |
Het |
| Sf3b1 |
A |
T |
1: 55,039,444 (GRCm39) |
V727E |
probably damaging |
Het |
| Slit2 |
T |
G |
5: 48,407,140 (GRCm39) |
L857R |
probably damaging |
Het |
| Spata31g1 |
T |
A |
4: 42,972,097 (GRCm39) |
S477T |
probably benign |
Het |
| Sspo |
T |
G |
6: 48,425,504 (GRCm39) |
C42G |
probably damaging |
Het |
| Strc |
C |
T |
2: 121,201,470 (GRCm39) |
D1245N |
probably benign |
Het |
| Supv3l1 |
T |
A |
10: 62,268,118 (GRCm39) |
T576S |
probably benign |
Het |
| Tecrl |
C |
T |
5: 83,461,154 (GRCm39) |
R101Q |
probably benign |
Het |
| Tmeff2 |
A |
G |
1: 51,220,952 (GRCm39) |
Y309C |
probably damaging |
Het |
| Tmem43 |
T |
A |
6: 91,462,362 (GRCm39) |
W316R |
probably damaging |
Het |
| Tmigd3 |
T |
C |
3: 105,821,554 (GRCm39) |
V141A |
probably benign |
Het |
| Trav9-1 |
T |
C |
14: 53,725,584 (GRCm39) |
F8L |
probably benign |
Het |
| Trbv5 |
T |
G |
6: 41,039,641 (GRCm39) |
F82C |
probably damaging |
Het |
| Ubtf |
T |
C |
11: 102,205,802 (GRCm39) |
N41S |
possibly damaging |
Het |
| Uggt1 |
T |
C |
1: 36,197,229 (GRCm39) |
T1225A |
probably benign |
Het |
| Vmn1r72 |
T |
C |
7: 11,403,807 (GRCm39) |
R214G |
possibly damaging |
Het |
| Vmn2r12 |
T |
G |
5: 109,234,522 (GRCm39) |
K563N |
possibly damaging |
Het |
| Vmn2r83 |
T |
C |
10: 79,304,873 (GRCm39) |
S28P |
probably benign |
Het |
| Vwa8 |
T |
G |
14: 79,438,552 (GRCm39) |
L1875R |
probably damaging |
Het |
| Xrcc6 |
T |
A |
15: 81,913,866 (GRCm39) |
V64E |
probably damaging |
Het |
| Zfp292 |
T |
C |
4: 34,811,835 (GRCm39) |
Y403C |
probably damaging |
Het |
| Zfp955a |
A |
T |
17: 33,460,955 (GRCm39) |
H392Q |
probably damaging |
Het |
| Zfyve19 |
T |
C |
2: 119,041,290 (GRCm39) |
S69P |
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 |
|
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 |
|
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 |
|
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'- GCATCTATGAAGCTTCCACGAAG -3'
(R):5'- AGATGTTTACTGGCATAACTTTGAC -3'
Sequencing Primer
(F):5'- TTCCACGAAGCCTGCTCAG -3'
(R):5'- TGGCATAACTTTGACAAATCTATTCC -3'
|
| Posted On |
2021-08-31 |
Incidental Mutation