Incidental Mutation 'R5897:Gje1'
| ID |
457597 |
| 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 |
044096-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.108)
|
| Stock # |
R5897 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
14591367-14593958 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 14592467 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 105
(I105N)
|
| 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: I105N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000020016
Gene: ENSMUSG00000019867
AA Change: I105N
| 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
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.4%
- 10x: 97.0%
- 20x: 90.7%
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abi3bp |
A |
G |
16: 56,425,032 (GRCm39) |
T489A |
possibly damaging |
Het |
| Adam3 |
T |
C |
8: 25,187,244 (GRCm39) |
T416A |
probably benign |
Het |
| Agbl3 |
A |
G |
6: 34,780,508 (GRCm39) |
I494V |
probably benign |
Het |
| Akap9 |
T |
C |
5: 4,127,904 (GRCm39) |
S3747P |
probably benign |
Het |
| Arhgef18 |
G |
T |
8: 3,489,682 (GRCm39) |
R338L |
probably damaging |
Het |
| Atg16l1 |
G |
T |
1: 87,713,719 (GRCm39) |
|
probably null |
Het |
| BC024139 |
A |
G |
15: 76,010,339 (GRCm39) |
S56P |
possibly damaging |
Het |
| Ccdc121 |
T |
C |
5: 31,643,308 (GRCm39) |
|
probably benign |
Het |
| Ccdc175 |
T |
A |
12: 72,206,578 (GRCm39) |
I223L |
probably benign |
Het |
| Cdcp3 |
A |
T |
7: 130,798,280 (GRCm39) |
|
probably null |
Het |
| Cep76 |
T |
A |
18: 67,771,398 (GRCm39) |
Q78L |
probably benign |
Het |
| Cyp20a1 |
A |
C |
1: 60,392,220 (GRCm39) |
N92T |
probably damaging |
Het |
| Cyp2c68 |
T |
C |
19: 39,700,975 (GRCm39) |
D281G |
probably benign |
Het |
| Cyp2j12 |
T |
C |
4: 95,990,279 (GRCm39) |
N429S |
probably damaging |
Het |
| Dchs2 |
G |
A |
3: 83,192,717 (GRCm39) |
V1721I |
possibly damaging |
Het |
| Elovl4 |
G |
A |
9: 83,672,157 (GRCm39) |
T54M |
possibly damaging |
Het |
| Fam13b |
A |
G |
18: 34,587,134 (GRCm39) |
V542A |
possibly damaging |
Het |
| Grm4 |
G |
T |
17: 27,654,137 (GRCm39) |
F349L |
probably benign |
Het |
| Hsd17b3 |
A |
G |
13: 64,236,799 (GRCm39) |
|
probably null |
Het |
| Khdrbs1 |
A |
T |
4: 129,614,448 (GRCm39) |
D368E |
probably benign |
Het |
| Klra10 |
T |
A |
6: 130,258,792 (GRCm39) |
R32* |
probably null |
Het |
| Lrrc7 |
T |
A |
3: 157,869,990 (GRCm39) |
I644F |
probably damaging |
Het |
| Or2i1 |
A |
T |
17: 37,508,151 (GRCm39) |
L161Q |
probably damaging |
Het |
| Or2t1 |
G |
T |
14: 14,328,120 (GRCm38) |
G3V |
probably benign |
Het |
| Otogl |
G |
A |
10: 107,612,978 (GRCm39) |
|
silent |
Het |
| Pbx3 |
A |
T |
2: 34,261,920 (GRCm39) |
S5T |
probably benign |
Het |
| Pcdhb13 |
T |
A |
18: 37,576,264 (GRCm39) |
V214E |
probably benign |
Het |
| Pkd1l1 |
T |
C |
11: 8,829,176 (GRCm39) |
D1022G |
probably benign |
Het |
| Pla2g4a |
T |
A |
1: 149,740,899 (GRCm39) |
K380I |
probably damaging |
Het |
| Prl3b1 |
A |
G |
13: 27,429,858 (GRCm39) |
T99A |
probably benign |
Het |
| Prr12 |
C |
T |
7: 44,692,808 (GRCm39) |
V1575I |
probably damaging |
Het |
| Ptpn5 |
C |
T |
7: 46,729,262 (GRCm39) |
V451I |
probably benign |
Het |
| Rab1a |
C |
T |
11: 20,168,867 (GRCm39) |
R51* |
probably null |
Het |
| Skint9 |
A |
G |
4: 112,271,113 (GRCm39) |
I99T |
possibly damaging |
Het |
| Tbc1d8 |
A |
G |
1: 39,431,190 (GRCm39) |
V394A |
possibly damaging |
Het |
| Tcf20 |
A |
T |
15: 82,735,984 (GRCm39) |
C1822* |
probably null |
Het |
| Tdrd6 |
T |
A |
17: 43,935,768 (GRCm39) |
D1760V |
probably damaging |
Het |
| Tinag |
C |
A |
9: 76,952,726 (GRCm39) |
C86F |
probably damaging |
Het |
| Tmtc2 |
A |
T |
10: 105,249,459 (GRCm39) |
N91K |
probably damaging |
Het |
| Tmub1 |
G |
A |
5: 24,651,925 (GRCm39) |
T13M |
probably benign |
Het |
| Txn2 |
G |
A |
15: 77,808,726 (GRCm39) |
A135V |
probably benign |
Het |
| Ush2a |
G |
A |
1: 188,553,935 (GRCm39) |
G3475R |
probably damaging |
Het |
| Usp38 |
T |
C |
8: 81,732,082 (GRCm39) |
D276G |
probably benign |
Het |
| Vax1 |
T |
A |
19: 59,158,233 (GRCm39) |
I77F |
unknown |
Het |
| Vmn2r108 |
C |
T |
17: 20,691,580 (GRCm39) |
M314I |
probably benign |
Het |
| Vmn2r4 |
C |
A |
3: 64,322,687 (GRCm39) |
G11* |
probably null |
Het |
| Zcchc14 |
T |
C |
8: 122,331,899 (GRCm39) |
|
probably benign |
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 |
|
R6386:Gje1
|
UTSW |
10 |
14,592,365 (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'- TGCTCTGGAACCATGCATTTTAG -3'
(R):5'- CCAACCGCCATTATGTTTAAAGTTC -3'
Sequencing Primer
(F):5'- GGAACCATGCATTTTAGAATATTTGG -3'
(R):5'- GTTCTAAAATCATATGTCAGCACCAG -3'
|
| Posted On |
2017-02-15 |
Incidental Mutation