Incidental Mutation 'IGL01667:Gjc2'
| ID |
103330 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gjc2
|
| Ensembl Gene |
ENSMUSG00000043448 |
| Gene Name |
gap junction protein, gamma 2 |
| Synonyms |
Gja12, B230382L12Rik, Cx47, connexin 47 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01667
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
59066394-59074039 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 59068344 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Serine
at position 46
(I46S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104421
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108790]
[ENSMUST00000108793]
|
| AlphaFold |
Q8BQU6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108790
AA Change: I46S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000104418
Gene: ENSMUSG00000043448
AA Change: I46S
| Domain | Start | End | E-Value | Type |
|---|
|
CNX
|
45 |
78 |
3.37e-17 |
SMART |
|
low complexity region
|
101 |
127 |
N/A |
INTRINSIC |
|
low complexity region
|
128 |
142 |
N/A |
INTRINSIC |
|
low complexity region
|
143 |
193 |
N/A |
INTRINSIC |
|
Connexin_CCC
|
222 |
288 |
9.88e-42 |
SMART |
|
low complexity region
|
298 |
330 |
N/A |
INTRINSIC |
|
low complexity region
|
347 |
372 |
N/A |
INTRINSIC |
|
low complexity region
|
388 |
405 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108793
AA Change: I46S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000104421
Gene: ENSMUSG00000043448
AA Change: I46S
| Domain | Start | End | E-Value | Type |
|---|
|
CNX
|
45 |
78 |
3.37e-17 |
SMART |
|
low complexity region
|
101 |
127 |
N/A |
INTRINSIC |
|
low complexity region
|
128 |
142 |
N/A |
INTRINSIC |
|
low complexity region
|
143 |
193 |
N/A |
INTRINSIC |
|
Connexin_CCC
|
222 |
288 |
9.88e-42 |
SMART |
|
low complexity region
|
298 |
330 |
N/A |
INTRINSIC |
|
low complexity region
|
347 |
372 |
N/A |
INTRINSIC |
|
low complexity region
|
388 |
405 |
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.] This gene encodes a gap junction protein. Gap junction proteins are members of a large family of homologous connexins and comprise 4 transmembrane, 2 extracellular, and 3 cytoplasmic domains. This gene plays a key role in central myelination and is involved in peripheral myelination in humans. Defects in this gene are the cause of autosomal recessive Pelizaeus-Merzbacher-like disease-1. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for one null allele are viable and behaviorally normal with no CNS demyelination detected in the spinal cord. In contrast, mice homozygous for a different null allele display a conspicuous vacuolation of CNS nerve fibers, especially in the myelinated region of the optic nerve. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap13 |
A |
G |
7: 75,219,767 (GRCm39) |
T57A |
probably damaging |
Het |
| Akna |
G |
T |
4: 63,297,396 (GRCm39) |
T886N |
probably benign |
Het |
| Aqp9 |
A |
G |
9: 71,045,495 (GRCm39) |
V38A |
probably benign |
Het |
| Awat2 |
C |
T |
X: 99,447,860 (GRCm39) |
G124D |
probably damaging |
Het |
| Camsap1 |
A |
G |
2: 25,835,293 (GRCm39) |
|
probably benign |
Het |
| Catsperg2 |
T |
C |
7: 29,409,558 (GRCm39) |
Y545C |
probably damaging |
Het |
| Cldn23 |
A |
G |
8: 36,293,074 (GRCm39) |
F138S |
possibly damaging |
Het |
| Clec4a3 |
A |
C |
6: 122,929,819 (GRCm39) |
|
probably benign |
Het |
| Dlgap3 |
C |
A |
4: 127,127,690 (GRCm39) |
T786K |
probably benign |
Het |
| Dnah2 |
A |
C |
11: 69,435,221 (GRCm39) |
S50A |
probably benign |
Het |
| Dnah2 |
A |
T |
11: 69,411,767 (GRCm39) |
I285N |
probably damaging |
Het |
| Dnah7a |
A |
G |
1: 53,586,451 (GRCm39) |
Y1467H |
probably damaging |
Het |
| Fgf22 |
C |
T |
10: 79,592,588 (GRCm39) |
P115L |
probably damaging |
Het |
| Fzd2 |
G |
T |
11: 102,496,608 (GRCm39) |
V351L |
possibly damaging |
Het |
| Gapdhs |
T |
A |
7: 30,436,062 (GRCm39) |
E174V |
possibly damaging |
Het |
| Gm5581 |
T |
C |
6: 131,144,735 (GRCm39) |
|
noncoding transcript |
Het |
| Krt1c |
C |
A |
15: 101,724,765 (GRCm39) |
V282L |
possibly damaging |
Het |
| Myh15 |
G |
A |
16: 49,015,942 (GRCm39) |
V1873M |
probably benign |
Het |
| Myo1b |
T |
C |
1: 51,799,536 (GRCm39) |
T931A |
probably damaging |
Het |
| Myo6 |
A |
T |
9: 80,197,175 (GRCm39) |
K965N |
unknown |
Het |
| Or5a3 |
T |
C |
19: 12,400,120 (GRCm39) |
V149A |
probably benign |
Het |
| Pcnx3 |
T |
C |
19: 5,736,658 (GRCm39) |
R160G |
probably benign |
Het |
| Slc22a16 |
T |
C |
10: 40,461,014 (GRCm39) |
I272T |
probably damaging |
Het |
| Slc35b4 |
A |
G |
6: 34,144,610 (GRCm39) |
Y82H |
possibly damaging |
Het |
| Spdya |
T |
C |
17: 71,863,254 (GRCm39) |
M1T |
probably null |
Het |
| St6gal1 |
A |
G |
16: 23,140,174 (GRCm39) |
N115S |
probably benign |
Het |
| Tbc1d12 |
A |
T |
19: 38,902,744 (GRCm39) |
|
probably benign |
Het |
| Tfrc |
A |
G |
16: 32,443,261 (GRCm39) |
|
probably benign |
Het |
| Trip11 |
A |
C |
12: 101,845,121 (GRCm39) |
F1539C |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,611,422 (GRCm39) |
I15624N |
possibly damaging |
Het |
| Vmn1r169 |
A |
T |
7: 23,277,225 (GRCm39) |
M206L |
probably benign |
Het |
| Zfp362 |
A |
G |
4: 128,680,902 (GRCm39) |
L141P |
probably damaging |
Het |
| Zfp692 |
A |
G |
11: 58,202,379 (GRCm39) |
H378R |
probably damaging |
Het |
| Zfp799 |
T |
C |
17: 33,040,794 (GRCm39) |
Q52R |
possibly damaging |
Het |
|
| Other mutations in Gjc2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02191:Gjc2
|
APN |
11 |
59,068,386 (GRCm39) |
missense |
probably damaging |
0.99 |
|
FR4342:Gjc2
|
UTSW |
11 |
59,073,569 (GRCm39) |
unclassified |
probably benign |
|
|
R0086:Gjc2
|
UTSW |
11 |
59,067,672 (GRCm39) |
missense |
probably benign |
0.39 |
|
R0201:Gjc2
|
UTSW |
11 |
59,068,416 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R1478:Gjc2
|
UTSW |
11 |
59,068,434 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R5211:Gjc2
|
UTSW |
11 |
59,068,284 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R5395:Gjc2
|
UTSW |
11 |
59,068,315 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5560:Gjc2
|
UTSW |
11 |
59,068,185 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R5906:Gjc2
|
UTSW |
11 |
59,067,667 (GRCm39) |
missense |
probably benign |
0.39 |
|
R6909:Gjc2
|
UTSW |
11 |
59,067,918 (GRCm39) |
missense |
unknown |
|
|
R7055:Gjc2
|
UTSW |
11 |
59,067,856 (GRCm39) |
missense |
unknown |
|
|
R7241:Gjc2
|
UTSW |
11 |
59,067,960 (GRCm39) |
missense |
unknown |
|
|
R8353:Gjc2
|
UTSW |
11 |
59,067,840 (GRCm39) |
missense |
unknown |
|
|
R8416:Gjc2
|
UTSW |
11 |
59,068,334 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8546:Gjc2
|
UTSW |
11 |
59,067,182 (GRCm39) |
missense |
unknown |
|
|
R9276:Gjc2
|
UTSW |
11 |
59,068,453 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Gjc2
|
UTSW |
11 |
59,068,443 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1186:Gjc2
|
UTSW |
11 |
59,073,561 (GRCm39) |
critical splice donor site |
probably benign |
|
|
Z1186:Gjc2
|
UTSW |
11 |
59,067,318 (GRCm39) |
missense |
unknown |
|
|
Z1187:Gjc2
|
UTSW |
11 |
59,073,561 (GRCm39) |
critical splice donor site |
probably benign |
|
|
Z1187:Gjc2
|
UTSW |
11 |
59,067,259 (GRCm39) |
missense |
unknown |
|
|
Z1188:Gjc2
|
UTSW |
11 |
59,073,561 (GRCm39) |
critical splice donor site |
probably benign |
|
|
Z1188:Gjc2
|
UTSW |
11 |
59,067,318 (GRCm39) |
missense |
unknown |
|
|
Z1188:Gjc2
|
UTSW |
11 |
59,067,259 (GRCm39) |
missense |
unknown |
|
|
Z1189:Gjc2
|
UTSW |
11 |
59,073,561 (GRCm39) |
critical splice donor site |
probably benign |
|
|
Z1189:Gjc2
|
UTSW |
11 |
59,067,318 (GRCm39) |
missense |
unknown |
|
|
Z1190:Gjc2
|
UTSW |
11 |
59,073,561 (GRCm39) |
critical splice donor site |
probably benign |
|
|
Z1191:Gjc2
|
UTSW |
11 |
59,073,561 (GRCm39) |
critical splice donor site |
probably benign |
|
|
Z1191:Gjc2
|
UTSW |
11 |
59,067,318 (GRCm39) |
missense |
unknown |
|
|
Z1191:Gjc2
|
UTSW |
11 |
59,067,259 (GRCm39) |
missense |
unknown |
|
|
Z1192:Gjc2
|
UTSW |
11 |
59,073,561 (GRCm39) |
critical splice donor site |
probably benign |
|
|
Z1192:Gjc2
|
UTSW |
11 |
59,067,318 (GRCm39) |
missense |
unknown |
|
|
| Posted On |
2014-01-21 |
Incidental Mutation