Incidental Mutation 'IGL02057:Gipc3'
| ID |
185255 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gipc3
|
| Ensembl Gene |
ENSMUSG00000034872 |
| Gene Name |
GIPC PDZ domain containing family, member 3 |
| Synonyms |
Gipc3, Ahl5, Rgs19ip3 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02057
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
81171099-81179100 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 81178968 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Tyrosine
at position 42
(N42Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000049236
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020454]
[ENSMUST00000045102]
[ENSMUST00000105323]
[ENSMUST00000105324]
[ENSMUST00000122993]
[ENSMUST00000167481]
[ENSMUST00000154609]
|
| AlphaFold |
Q8R5M0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020454
|
| SMART Domains |
Protein: ENSMUSP00000020454
Gene: ENSMUSG00000020232
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
22 |
N/A |
INTRINSIC |
|
low complexity region
|
52 |
64 |
N/A |
INTRINSIC |
|
HMG
|
69 |
139 |
8.68e-22 |
SMART |
|
coiled coil region
|
190 |
257 |
N/A |
INTRINSIC |
|
low complexity region
|
266 |
280 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000045102
AA Change: N42Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000049236
Gene: ENSMUSG00000034872
AA Change: N42Y
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
94 |
104 |
N/A |
INTRINSIC |
|
PDZ
|
105 |
179 |
1.19e-7 |
SMART |
|
low complexity region
|
224 |
237 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105323
|
| SMART Domains |
Protein: ENSMUSP00000100960
Gene: ENSMUSG00000020232
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
22 |
N/A |
INTRINSIC |
|
low complexity region
|
52 |
64 |
N/A |
INTRINSIC |
|
HMG
|
69 |
139 |
8.68e-22 |
SMART |
|
coiled coil region
|
190 |
257 |
N/A |
INTRINSIC |
|
low complexity region
|
266 |
280 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105324
|
| SMART Domains |
Protein: ENSMUSP00000100961
Gene: ENSMUSG00000020232
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
22 |
N/A |
INTRINSIC |
|
low complexity region
|
52 |
64 |
N/A |
INTRINSIC |
|
HMG
|
69 |
139 |
8.68e-22 |
SMART |
|
coiled coil region
|
190 |
257 |
N/A |
INTRINSIC |
|
low complexity region
|
266 |
280 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000122993
|
| SMART Domains |
Protein: ENSMUSP00000137861
Gene: ENSMUSG00000020232
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HMG_box
|
1 |
36 |
1.2e-7 |
PFAM |
|
coiled coil region
|
88 |
155 |
N/A |
INTRINSIC |
|
low complexity region
|
164 |
178 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132313
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134857
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140268
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167481
|
| SMART Domains |
Protein: ENSMUSP00000128807
Gene: ENSMUSG00000020232
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
22 |
N/A |
INTRINSIC |
|
low complexity region
|
52 |
64 |
N/A |
INTRINSIC |
|
HMG
|
69 |
139 |
8.68e-22 |
SMART |
|
coiled coil region
|
190 |
257 |
N/A |
INTRINSIC |
|
low complexity region
|
266 |
280 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154609
|
| SMART Domains |
Protein: ENSMUSP00000115459
Gene: ENSMUSG00000020232
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
22 |
N/A |
INTRINSIC |
|
low complexity region
|
52 |
64 |
N/A |
INTRINSIC |
|
HMG
|
69 |
139 |
8.68e-22 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000141171
|
| SMART Domains |
Protein: ENSMUSP00000117322
Gene: ENSMUSG00000020232
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
14 |
N/A |
INTRINSIC |
|
HMG
|
19 |
89 |
8.68e-22 |
SMART |
|
coiled coil region
|
139 |
206 |
N/A |
INTRINSIC |
|
low complexity region
|
234 |
246 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the GIPC family. Studies in mice suggest that this gene is required for postnatal maturation of the hair bundle and long-term survival of hair cells and spiral ganglion in the ear. Mutations in this gene are associated with autosomal recessive deafness. [provided by RefSeq, Dec 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankk1 |
T |
C |
9: 49,328,072 (GRCm39) |
N369S |
probably damaging |
Het |
| Atp13a3 |
C |
T |
16: 30,151,182 (GRCm39) |
A1043T |
probably benign |
Het |
| AY358078 |
G |
A |
14: 52,057,762 (GRCm39) |
V287I |
unknown |
Het |
| Cemip |
T |
C |
7: 83,636,661 (GRCm39) |
E324G |
probably damaging |
Het |
| Ckap5 |
T |
A |
2: 91,431,052 (GRCm39) |
D1487E |
possibly damaging |
Het |
| Dscam |
G |
A |
16: 96,517,273 (GRCm39) |
Q879* |
probably null |
Het |
| Eci2 |
A |
G |
13: 35,174,759 (GRCm39) |
L50P |
probably damaging |
Het |
| Erp44 |
A |
T |
4: 48,236,964 (GRCm39) |
H65Q |
probably benign |
Het |
| Fahd1 |
A |
T |
17: 25,068,570 (GRCm39) |
I169N |
probably damaging |
Het |
| Galm |
T |
C |
17: 80,488,996 (GRCm39) |
I214T |
probably benign |
Het |
| H2-Eb2 |
A |
T |
17: 34,554,741 (GRCm39) |
|
probably benign |
Het |
| Itgb3 |
A |
T |
11: 104,523,174 (GRCm39) |
I113F |
probably damaging |
Het |
| Lef1 |
T |
G |
3: 130,994,051 (GRCm39) |
Y342* |
probably null |
Het |
| Lilrb4a |
G |
A |
10: 51,368,103 (GRCm39) |
D168N |
possibly damaging |
Het |
| Or51b6b |
T |
A |
7: 103,309,860 (GRCm39) |
Y199F |
probably damaging |
Het |
| Or5m10 |
T |
A |
2: 85,717,275 (GRCm39) |
F44I |
probably benign |
Het |
| Orc1 |
T |
G |
4: 108,445,926 (GRCm39) |
S15A |
possibly damaging |
Het |
| Pdk2 |
C |
T |
11: 94,919,324 (GRCm39) |
G317D |
probably benign |
Het |
| Rab37 |
T |
C |
11: 115,051,543 (GRCm39) |
S217P |
probably benign |
Het |
| Rere |
C |
T |
4: 150,699,289 (GRCm39) |
|
probably benign |
Het |
| Scn11a |
C |
T |
9: 119,594,536 (GRCm39) |
G1286S |
probably damaging |
Het |
| Sirt1 |
A |
G |
10: 63,160,982 (GRCm39) |
S357P |
probably damaging |
Het |
| Smpdl3b |
T |
A |
4: 132,461,024 (GRCm39) |
E351V |
probably benign |
Het |
| Sox6 |
C |
A |
7: 115,149,310 (GRCm39) |
G355W |
probably damaging |
Het |
| Spopfm2 |
T |
A |
3: 94,083,662 (GRCm39) |
S50C |
probably damaging |
Het |
| Srpk2 |
G |
T |
5: 23,723,705 (GRCm39) |
A502E |
probably damaging |
Het |
| Trim67 |
G |
A |
8: 125,549,869 (GRCm39) |
V500I |
probably benign |
Het |
| Ube2v2 |
A |
G |
16: 15,394,922 (GRCm39) |
V83A |
probably benign |
Het |
| Usp43 |
A |
T |
11: 67,747,113 (GRCm39) |
S865T |
probably benign |
Het |
| Vdac1 |
G |
A |
11: 52,267,371 (GRCm39) |
|
probably null |
Het |
| Vmn2r69 |
T |
A |
7: 85,060,990 (GRCm39) |
H198L |
possibly damaging |
Het |
| Vmn2r93 |
T |
C |
17: 18,546,032 (GRCm39) |
C635R |
probably damaging |
Het |
|
| Other mutations in Gipc3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R1848:Gipc3
|
UTSW |
10 |
81,177,099 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1885:Gipc3
|
UTSW |
10 |
81,177,181 (GRCm39) |
missense |
probably benign |
0.20 |
|
R1921:Gipc3
|
UTSW |
10 |
81,174,049 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1922:Gipc3
|
UTSW |
10 |
81,174,049 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4722:Gipc3
|
UTSW |
10 |
81,177,129 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7171:Gipc3
|
UTSW |
10 |
81,177,455 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7993:Gipc3
|
UTSW |
10 |
81,173,805 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8047:Gipc3
|
UTSW |
10 |
81,177,132 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8527:Gipc3
|
UTSW |
10 |
81,174,055 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R8542:Gipc3
|
UTSW |
10 |
81,174,055 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R9802:Gipc3
|
UTSW |
10 |
81,179,097 (GRCm39) |
unclassified |
probably benign |
|
|
| Posted On |
2014-05-07 |
Incidental Mutation