Incidental Mutation 'R5010:Gja8'
ID 390419
Institutional Source Beutler Lab
Gene Symbol Gja8
Ensembl Gene ENSMUSG00000049908
Gene Name gap junction protein, alpha 8
Synonyms Cnx50, connexin 50, dcm, Cx50, Lop10, alpha 8 connexin, Aey5
MMRRC Submission 042601-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5010 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 96820882-96833336 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 96827165 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 166 (T166A)
Ref Sequence ENSEMBL: ENSMUSP00000049532 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062944] [ENSMUST00000199597]
AlphaFold P28236
Predicted Effect probably benign
Transcript: ENSMUST00000062944
AA Change: T166A

PolyPhen 2 Score 0.243 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000049532
Gene: ENSMUSG00000049908
AA Change: T166A

DomainStartEndE-ValueType
CNX 43 76 1.76e-20 SMART
low complexity region 134 147 N/A INTRINSIC
Connexin_CCC 168 234 2.8e-41 SMART
Pfam:Connexin50 267 333 7.3e-35 PFAM
low complexity region 337 355 N/A INTRINSIC
low complexity region 423 438 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000199597
SMART Domains Protein: ENSMUSP00000143542
Gene: ENSMUSG00000057123

DomainStartEndE-ValueType
CNX 43 76 3.47e-19 SMART
Connexin_CCC 163 229 2.45e-37 SMART
Pfam:Connexin40_C 257 358 2.4e-33 PFAM
Meta Mutation Damage Score 0.1096 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.6%
Validation Efficiency 98% (65/66)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transmembrane connexin protein that is necessary for lens growth and maturation of lens fiber cells. The encoded protein is a component of gap junction channels and functions in a calcium and pH-dependent manner. Mutations in this gene have been associated with zonular pulverulent cataracts, nuclear progressive cataracts, and cataract-microcornea syndrome. [provided by RefSeq, Dec 2009]
PHENOTYPE: Homozygous mutants exhibit microphthalmia, with small lenses and nuclear or total cataracts. Heterozygotes may be equally or less affected, depending on the particular mutation and the genetic background. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810065E05Rik C T 11: 58,313,630 (GRCm39) A86V possibly damaging Het
9430097D07Rik A G 2: 32,464,440 (GRCm39) probably benign Het
Actr5 T A 2: 158,477,283 (GRCm39) D411E probably benign Het
Ang5 A G 14: 44,200,302 (GRCm39) D122G probably benign Het
Atg9a A T 1: 75,162,704 (GRCm39) probably null Het
Cracd G C 5: 76,805,681 (GRCm39) probably benign Het
Dctd C T 8: 48,590,449 (GRCm39) probably benign Het
Ddx11 G A 17: 66,454,717 (GRCm39) V642M possibly damaging Het
Dis3l2 G A 1: 86,688,043 (GRCm39) V100I probably benign Het
Echdc2 T C 4: 108,029,328 (GRCm39) V111A probably benign Het
Egr1 A G 18: 34,996,711 (GRCm39) T498A probably benign Het
Exosc3 T C 4: 45,317,702 (GRCm39) K200R possibly damaging Het
Exosc8 T C 3: 54,636,644 (GRCm39) D229G probably benign Het
Ext1 T A 15: 52,955,808 (GRCm39) I430F probably damaging Het
Fbxw22 T C 9: 109,232,492 (GRCm39) N31S probably benign Het
Gm21814 T A 6: 149,485,116 (GRCm39) noncoding transcript Het
Gm21915 T A 9: 40,581,944 (GRCm39) H12Q probably benign Het
Hgsnat G A 8: 26,437,988 (GRCm39) R527* probably null Het
Iqgap2 A G 13: 95,810,251 (GRCm39) F731S probably benign Het
Jchain T C 5: 88,670,364 (GRCm39) H85R probably damaging Het
Kcnb2 T C 1: 15,383,186 (GRCm39) C171R probably benign Het
Kcnk3 C A 5: 30,780,149 (GRCm39) R400S possibly damaging Het
Klhl28 C T 12: 65,004,001 (GRCm39) E171K probably damaging Het
Lrrfip2 T C 9: 111,053,040 (GRCm39) I375T possibly damaging Het
Mccc1 T C 3: 36,033,166 (GRCm39) N326S probably benign Het
Med13l T C 5: 118,731,615 (GRCm39) V97A possibly damaging Het
Mertk C A 2: 128,625,920 (GRCm39) T685K probably benign Het
Msh2 C A 17: 88,030,841 (GRCm39) A906E probably benign Het
Myom2 G A 8: 15,133,310 (GRCm39) V401M probably damaging Het
Nme5 A C 18: 34,711,738 (GRCm39) M1R probably null Het
Nop2 T C 6: 125,110,726 (GRCm39) S68P probably benign Het
Notch1 A T 2: 26,366,126 (GRCm39) D809E possibly damaging Het
Or14c39 T C 7: 86,343,793 (GRCm39) I43T possibly damaging Het
Ppat C T 5: 77,076,525 (GRCm39) probably benign Het
Prss23 T A 7: 89,159,422 (GRCm39) M216L probably benign Het
Psg18 A T 7: 18,083,279 (GRCm39) V171D probably damaging Het
Psg28 A G 7: 18,161,816 (GRCm39) V229A probably damaging Het
Qser1 T C 2: 104,618,176 (GRCm39) N879D possibly damaging Het
Rpap1 T C 2: 119,600,522 (GRCm39) N879S probably benign Het
Rusc2 T C 4: 43,415,926 (GRCm39) S411P probably damaging Het
Rxfp2 T A 5: 149,990,825 (GRCm39) W519R probably damaging Het
Scpep1 T A 11: 88,832,175 (GRCm39) Q185L probably benign Het
Serpinb11 A G 1: 107,307,379 (GRCm39) N270S probably benign Het
Serpinb6d T A 13: 33,855,427 (GRCm39) M367K probably benign Het
Skint10 T G 4: 112,584,869 (GRCm39) I213L probably benign Het
Skint5 T C 4: 113,403,734 (GRCm39) T1163A unknown Het
Slamf9 A T 1: 172,303,780 (GRCm39) I42L possibly damaging Het
Slc1a3 T C 15: 8,680,330 (GRCm39) probably benign Het
Smad6 T A 9: 63,861,182 (GRCm39) Q371L possibly damaging Het
Snx31 A T 15: 36,555,469 (GRCm39) V26E probably damaging Het
Spata31e5 A G 1: 28,816,943 (GRCm39) I363T possibly damaging Het
Taf4b A G 18: 14,955,229 (GRCm39) N594S possibly damaging Het
Tanc2 T C 11: 105,670,918 (GRCm39) S172P probably damaging Het
Tas2r110 T A 6: 132,845,438 (GRCm39) Y156* probably null Het
Tbc1d20 G A 2: 152,135,856 (GRCm39) probably benign Het
Timm50 A T 7: 28,006,284 (GRCm39) D272E probably benign Het
Ttn T G 2: 76,730,855 (GRCm39) probably benign Het
Vps13c T A 9: 67,823,661 (GRCm39) F1362I probably benign Het
Vwf T C 6: 125,543,220 (GRCm39) S154P probably benign Het
Zfp445 T C 9: 122,681,410 (GRCm39) R844G probably benign Het
Other mutations in Gja8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01335:Gja8 APN 3 96,826,558 (GRCm39) missense probably benign
IGL02114:Gja8 APN 3 96,827,341 (GRCm39) missense probably benign 0.00
IGL02237:Gja8 APN 3 96,827,249 (GRCm39) missense probably benign 0.00
IGL03204:Gja8 APN 3 96,827,408 (GRCm39) missense probably damaging 1.00
guidance UTSW 3 96,826,740 (GRCm39) missense probably benign 0.00
L1 UTSW 3 96,827,513 (GRCm39) missense probably damaging 1.00
prediction UTSW 3 96,826,664 (GRCm39) missense possibly damaging 0.64
R1024:Gja8 UTSW 3 96,826,740 (GRCm39) missense probably benign 0.00
R2215:Gja8 UTSW 3 96,827,218 (GRCm39) missense probably damaging 0.98
R2240:Gja8 UTSW 3 96,827,618 (GRCm39) missense probably benign 0.05
R2510:Gja8 UTSW 3 96,827,033 (GRCm39) missense probably damaging 1.00
R2511:Gja8 UTSW 3 96,827,033 (GRCm39) missense probably damaging 1.00
R2926:Gja8 UTSW 3 96,826,469 (GRCm39) missense probably benign 0.00
R3725:Gja8 UTSW 3 96,827,161 (GRCm39) missense probably damaging 1.00
R4090:Gja8 UTSW 3 96,826,468 (GRCm39) missense probably benign 0.00
R4933:Gja8 UTSW 3 96,826,351 (GRCm39) intron probably benign
R5497:Gja8 UTSW 3 96,827,513 (GRCm39) missense probably damaging 1.00
R5532:Gja8 UTSW 3 96,827,648 (GRCm39) missense probably benign 0.39
R6997:Gja8 UTSW 3 96,826,657 (GRCm39) missense probably benign
R7381:Gja8 UTSW 3 96,827,338 (GRCm39) missense probably benign
R7576:Gja8 UTSW 3 96,827,209 (GRCm39) missense probably benign 0.05
R7792:Gja8 UTSW 3 96,827,092 (GRCm39) missense probably damaging 1.00
R7827:Gja8 UTSW 3 96,827,635 (GRCm39) missense possibly damaging 0.52
R8444:Gja8 UTSW 3 96,826,990 (GRCm39) missense probably damaging 1.00
R9016:Gja8 UTSW 3 96,827,521 (GRCm39) missense probably damaging 1.00
R9081:Gja8 UTSW 3 96,826,676 (GRCm39) missense probably damaging 1.00
R9230:Gja8 UTSW 3 96,826,664 (GRCm39) missense possibly damaging 0.64
Z1177:Gja8 UTSW 3 96,827,552 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GATTCCTTTCATGCCCAGGTGG -3'
(R):5'- TACACCACGTTCGCATGGAG -3'

Sequencing Primer
(F):5'- CATCTCCATGATGTTGAGGAAGAGTG -3'
(R):5'- CGTTCGCATGGAGGAGAAGC -3'
Posted On 2016-06-06