Incidental Mutation 'IGL01524:Gipc2'
| ID |
89504 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gipc2
|
| Ensembl Gene |
ENSMUSG00000039131 |
| Gene Name |
GIPC PDZ domain containing family, member 2 |
| Synonyms |
Semcap2, 2200002N01Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.123)
|
| Stock # |
IGL01524
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
151799476-151871537 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 151843214 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 141
(I141T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037328
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046614]
|
| AlphaFold |
Q9Z2H7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000046614
AA Change: I141T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000037328
Gene: ENSMUSG00000039131
AA Change: I141T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
18 |
N/A |
INTRINSIC |
|
PDZ
|
125 |
199 |
7.04e-10 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133102
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197813
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200501
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadat |
A |
T |
8: 60,969,106 (GRCm39) |
D117V |
probably damaging |
Het |
| Abca14 |
T |
C |
7: 119,852,644 (GRCm39) |
Y870H |
possibly damaging |
Het |
| Ankrd36 |
T |
C |
11: 5,585,092 (GRCm39) |
I301T |
probably benign |
Het |
| Atp10b |
T |
A |
11: 43,150,672 (GRCm39) |
S1457T |
probably benign |
Het |
| Bltp1 |
A |
G |
3: 36,996,531 (GRCm39) |
D1081G |
possibly damaging |
Het |
| Ccdc175 |
G |
A |
12: 72,177,916 (GRCm39) |
|
probably benign |
Het |
| Ccdc93 |
A |
G |
1: 121,389,628 (GRCm39) |
K224E |
probably benign |
Het |
| Cep131 |
C |
T |
11: 119,956,786 (GRCm39) |
A886T |
probably damaging |
Het |
| Clip1 |
A |
C |
5: 123,717,442 (GRCm39) |
H1282Q |
probably damaging |
Het |
| Ctcfl |
T |
G |
2: 172,959,177 (GRCm39) |
D183A |
probably benign |
Het |
| Cyp17a1 |
C |
T |
19: 46,659,495 (GRCm39) |
V112I |
probably benign |
Het |
| Fhod3 |
T |
C |
18: 25,263,659 (GRCm39) |
I1521T |
probably damaging |
Het |
| Glo1 |
T |
C |
17: 30,815,393 (GRCm39) |
R141G |
possibly damaging |
Het |
| Ipmk |
C |
A |
10: 71,208,631 (GRCm39) |
A140E |
probably damaging |
Het |
| Kynu |
A |
G |
2: 43,561,394 (GRCm39) |
D310G |
possibly damaging |
Het |
| Myo1f |
T |
A |
17: 33,798,857 (GRCm39) |
I174N |
probably damaging |
Het |
| Nat10 |
T |
A |
2: 103,588,102 (GRCm39) |
N8Y |
probably damaging |
Het |
| Nhlrc2 |
A |
G |
19: 56,564,587 (GRCm39) |
I304V |
probably benign |
Het |
| Pdk4 |
T |
C |
6: 5,491,979 (GRCm39) |
H31R |
probably damaging |
Het |
| Sema6d |
T |
C |
2: 124,505,995 (GRCm39) |
V644A |
possibly damaging |
Het |
| Slc30a4 |
T |
A |
2: 122,544,308 (GRCm39) |
K11N |
possibly damaging |
Het |
| Slc6a3 |
T |
C |
13: 73,686,668 (GRCm39) |
S12P |
probably benign |
Het |
| Spats2 |
C |
T |
15: 99,110,127 (GRCm39) |
A508V |
probably benign |
Het |
| Tinag |
A |
G |
9: 76,952,820 (GRCm39) |
Y55H |
probably damaging |
Het |
| Topbp1 |
T |
C |
9: 103,188,844 (GRCm39) |
I172T |
possibly damaging |
Het |
| Trim17 |
A |
G |
11: 58,861,423 (GRCm39) |
T279A |
probably damaging |
Het |
| Vmn1r216 |
C |
A |
13: 23,283,519 (GRCm39) |
N67K |
probably benign |
Het |
| Washc4 |
T |
C |
10: 83,411,996 (GRCm39) |
L709P |
probably benign |
Het |
| Xdh |
T |
C |
17: 74,230,132 (GRCm39) |
|
probably null |
Het |
| Zfhx4 |
C |
T |
3: 5,309,036 (GRCm39) |
P754L |
probably damaging |
Het |
| Zfp267 |
T |
C |
3: 36,218,729 (GRCm39) |
Y251H |
possibly damaging |
Het |
| Zfp623 |
C |
A |
15: 75,819,528 (GRCm39) |
S161R |
probably benign |
Het |
| Zmat3 |
G |
A |
3: 32,395,827 (GRCm39) |
R227C |
possibly damaging |
Het |
|
| Other mutations in Gipc2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00163:Gipc2
|
APN |
3 |
151,843,215 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01065:Gipc2
|
APN |
3 |
151,808,294 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
IGL01690:Gipc2
|
APN |
3 |
151,833,771 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01697:Gipc2
|
APN |
3 |
151,843,245 (GRCm39) |
missense |
probably benign |
0.22 |
|
IGL02223:Gipc2
|
APN |
3 |
151,833,687 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0400:Gipc2
|
UTSW |
3 |
151,871,305 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0490:Gipc2
|
UTSW |
3 |
151,808,291 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1119:Gipc2
|
UTSW |
3 |
151,799,833 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1168:Gipc2
|
UTSW |
3 |
151,813,634 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1663:Gipc2
|
UTSW |
3 |
151,799,801 (GRCm39) |
missense |
probably benign |
|
|
R2365:Gipc2
|
UTSW |
3 |
151,833,831 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R2434:Gipc2
|
UTSW |
3 |
151,843,317 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3816:Gipc2
|
UTSW |
3 |
151,871,481 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3835:Gipc2
|
UTSW |
3 |
151,833,823 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5069:Gipc2
|
UTSW |
3 |
151,799,885 (GRCm39) |
missense |
probably benign |
0.12 |
|
R5240:Gipc2
|
UTSW |
3 |
151,808,299 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R5625:Gipc2
|
UTSW |
3 |
151,871,541 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R6646:Gipc2
|
UTSW |
3 |
151,799,838 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R6956:Gipc2
|
UTSW |
3 |
151,799,885 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7258:Gipc2
|
UTSW |
3 |
151,871,352 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7259:Gipc2
|
UTSW |
3 |
151,833,693 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8035:Gipc2
|
UTSW |
3 |
151,799,866 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9440:Gipc2
|
UTSW |
3 |
151,833,706 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
| Posted On |
2013-12-03 |
Incidental Mutation