Incidental Mutation 'R6386:Gje1'
| ID |
515609 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gje1
|
| Ensembl Gene |
ENSMUSG00000019867 |
| Gene Name |
gap junction protein, epsilon 1 |
| Synonyms |
Cx23, Gsfaey12, D230044M03Rik, AEY12, Gjf1, connexin 23 |
| MMRRC Submission |
044535-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.109)
|
| Stock # |
R6386 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
14591367-14593958 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 14592365 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 139
(F139S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020016
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020016]
[ENSMUST00000190114]
[ENSMUST00000191238]
|
| AlphaFold |
Q9CX92 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020016
AA Change: F139S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000020016
Gene: ENSMUSG00000019867
AA Change: F139S
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:Connexin_CCC
|
31 |
74 |
3e-21 |
BLAST |
|
Connexin_CCC
|
125 |
194 |
2.75e-17 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186175
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000187449
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188021
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190114
|
| SMART Domains |
Protein: ENSMUSP00000140754
Gene: ENSMUSG00000019865
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
8 |
119 |
6.8e-10 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000191238
|
| Meta Mutation Damage Score |
0.1538 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.1%
- 20x: 96.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice with a mutation in this gene have small eyes. Eye/lens development arrests at the lens vesicle stage, and no primary lens fibers form. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ak6 |
TGACGA |
TGA |
13: 100,792,311 (GRCm39) |
|
probably benign |
Het |
| Arap2 |
A |
T |
5: 62,761,865 (GRCm39) |
N1620K |
possibly damaging |
Het |
| Atf6b |
T |
C |
17: 34,870,825 (GRCm39) |
S396P |
probably damaging |
Het |
| Cc2d1a |
A |
G |
8: 84,865,166 (GRCm39) |
M469T |
probably damaging |
Het |
| Ceacam3 |
A |
G |
7: 16,892,144 (GRCm39) |
N296D |
probably benign |
Het |
| Cep57l1 |
A |
T |
10: 41,619,128 (GRCm39) |
S80T |
probably damaging |
Het |
| Clip4 |
C |
A |
17: 72,141,189 (GRCm39) |
Y514* |
probably null |
Het |
| Cop1 |
T |
C |
1: 159,116,601 (GRCm39) |
I125T |
probably damaging |
Het |
| Cstf1 |
T |
C |
2: 172,219,816 (GRCm39) |
V309A |
probably damaging |
Het |
| Cyp4a29 |
T |
G |
4: 115,104,272 (GRCm39) |
|
probably null |
Het |
| F830045P16Rik |
G |
A |
2: 129,314,738 (GRCm39) |
H180Y |
probably damaging |
Het |
| Foxp4 |
T |
C |
17: 48,189,387 (GRCm39) |
K237E |
unknown |
Het |
| Fstl5 |
A |
T |
3: 76,229,373 (GRCm39) |
H58L |
probably benign |
Het |
| Gpatch1 |
T |
C |
7: 34,991,265 (GRCm39) |
D593G |
probably damaging |
Het |
| Inpp5d |
T |
A |
1: 87,627,397 (GRCm39) |
L566Q |
probably damaging |
Het |
| Mtch2 |
A |
G |
2: 90,679,739 (GRCm39) |
T38A |
probably benign |
Het |
| Mvb12b |
A |
T |
2: 33,717,754 (GRCm39) |
I129N |
probably damaging |
Het |
| Npffr2 |
T |
C |
5: 89,730,556 (GRCm39) |
V162A |
probably benign |
Het |
| Or4d10b |
A |
T |
19: 12,036,920 (GRCm39) |
N65K |
probably damaging |
Het |
| Or5p61 |
A |
T |
7: 107,758,409 (GRCm39) |
Y224N |
probably damaging |
Het |
| Pkhd1 |
G |
A |
1: 20,621,244 (GRCm39) |
R805C |
probably damaging |
Het |
| Ppp4r4 |
T |
C |
12: 103,559,364 (GRCm39) |
L406P |
probably damaging |
Het |
| Prl3d2 |
A |
G |
13: 27,311,286 (GRCm39) |
D186G |
probably damaging |
Het |
| Rfc5 |
T |
C |
5: 117,523,463 (GRCm39) |
T112A |
probably benign |
Het |
| Rnf148 |
A |
G |
6: 23,654,483 (GRCm39) |
L171P |
probably damaging |
Het |
| Rps24 |
G |
A |
14: 24,542,116 (GRCm39) |
G71S |
possibly damaging |
Het |
| Slco2a1 |
G |
A |
9: 102,954,187 (GRCm39) |
V453I |
probably benign |
Het |
| Spidr |
T |
C |
16: 15,786,424 (GRCm39) |
K440E |
probably benign |
Het |
| Syndig1 |
C |
A |
2: 149,741,496 (GRCm39) |
N27K |
probably damaging |
Het |
| Tmem62 |
C |
T |
2: 120,829,595 (GRCm39) |
T316I |
probably benign |
Het |
| Tpgs2 |
A |
T |
18: 25,272,081 (GRCm39) |
I258N |
possibly damaging |
Het |
| Vmn2r78 |
A |
T |
7: 86,571,545 (GRCm39) |
R452* |
probably null |
Het |
| Wasf3 |
A |
T |
5: 146,390,227 (GRCm39) |
I124F |
possibly damaging |
Het |
| Wbp11 |
T |
C |
6: 136,797,523 (GRCm39) |
T299A |
probably benign |
Het |
| Wdr25 |
T |
C |
12: 108,990,991 (GRCm39) |
S41P |
probably damaging |
Het |
| Zfp874b |
T |
C |
13: 67,622,962 (GRCm39) |
D116G |
possibly damaging |
Het |
|
| Other mutations in Gje1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02336:Gje1
|
APN |
10 |
14,592,413 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02579:Gje1
|
APN |
10 |
14,592,492 (GRCm39) |
missense |
probably benign |
0.23 |
|
IGL03046:Gje1
|
UTSW |
10 |
14,592,374 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0884:Gje1
|
UTSW |
10 |
14,592,484 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R1444:Gje1
|
UTSW |
10 |
14,592,380 (GRCm39) |
splice site |
probably null |
|
|
R1666:Gje1
|
UTSW |
10 |
14,592,551 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R1725:Gje1
|
UTSW |
10 |
14,592,168 (GRCm39) |
nonsense |
probably null |
|
|
R4841:Gje1
|
UTSW |
10 |
14,593,082 (GRCm39) |
missense |
probably null |
1.00 |
|
R4842:Gje1
|
UTSW |
10 |
14,593,082 (GRCm39) |
missense |
probably null |
1.00 |
|
R5048:Gje1
|
UTSW |
10 |
14,593,021 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5104:Gje1
|
UTSW |
10 |
14,592,462 (GRCm39) |
nonsense |
probably null |
|
|
R5421:Gje1
|
UTSW |
10 |
14,592,428 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5422:Gje1
|
UTSW |
10 |
14,592,428 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5897:Gje1
|
UTSW |
10 |
14,592,467 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6930:Gje1
|
UTSW |
10 |
14,593,886 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7426:Gje1
|
UTSW |
10 |
14,592,223 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7576:Gje1
|
UTSW |
10 |
14,592,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7650:Gje1
|
UTSW |
10 |
14,592,168 (GRCm39) |
nonsense |
probably null |
|
|
R8020:Gje1
|
UTSW |
10 |
14,593,021 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8795:Gje1
|
UTSW |
10 |
14,593,870 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8926:Gje1
|
UTSW |
10 |
14,592,435 (GRCm39) |
missense |
probably benign |
|
|
R9770:Gje1
|
UTSW |
10 |
14,592,473 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0065:Gje1
|
UTSW |
10 |
14,592,343 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
Z1088:Gje1
|
UTSW |
10 |
14,593,868 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAACCCGGTCATCGTTTAAAGAG -3'
(R):5'- TCTGGGCATTGCAGCTAGTG -3'
Sequencing Primer
(F):5'- CCGGTCATCGTTTAAAGAGAAAAC -3'
(R):5'- CATTGCAGCTAGTGATTGTCC -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation