Incidental Mutation 'IGL02814:Gjb5'
ID 360724
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gjb5
Ensembl Gene ENSMUSG00000042357
Gene Name gap junction protein, beta 5
Synonyms Cnx31.1, Cx31.1, Gjb-5, connexin 31.1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.076) question?
Stock # IGL02814
Quality Score
Status
Chromosome 4
Chromosomal Location 127248600-127251957 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 127249355 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 263 (R263Q)
Ref Sequence ENSEMBL: ENSMUSP00000045325 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046498] [ENSMUST00000060419] [ENSMUST00000106090]
AlphaFold Q02739
Predicted Effect probably benign
Transcript: ENSMUST00000046498
AA Change: R263Q

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000045325
Gene: ENSMUSG00000042357
AA Change: R263Q

DomainStartEndE-ValueType
low complexity region 25 38 N/A INTRINSIC
CNX 42 75 1.99e-19 SMART
Connexin_CCC 139 206 1.42e-33 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000060419
SMART Domains Protein: ENSMUSP00000053307
Gene: ENSMUSG00000046623

DomainStartEndE-ValueType
low complexity region 27 38 N/A INTRINSIC
CNX 42 75 9.16e-19 SMART
low complexity region 98 103 N/A INTRINSIC
Connexin_CCC 141 208 6.28e-35 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000106090
SMART Domains Protein: ENSMUSP00000101696
Gene: ENSMUSG00000046623

DomainStartEndE-ValueType
low complexity region 27 38 N/A INTRINSIC
CNX 42 75 9.16e-19 SMART
low complexity region 98 103 N/A INTRINSIC
Connexin_CCC 141 208 6.28e-35 SMART
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 member of the beta-type (group I) connexin family. The encoded protein is a gap junction protein involved in intercellular communication related to epidermal differentiation and environmental sensing. This gene has been linked to non-small cell lung cancer. [provided by RefSeq, Nov 2012]
PHENOTYPE: Mice homozygous for a null allele exhibit some embryonic lethality, reduced weight and reduced placental development. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 A T 11: 110,045,293 (GRCm39) F347I possibly damaging Het
Adcy5 A G 16: 35,124,019 (GRCm39) T1233A probably benign Het
Blnk C T 19: 40,950,873 (GRCm39) D93N probably damaging Het
Cadps2 T C 6: 23,321,706 (GRCm39) E1083G probably damaging Het
Capn8 C A 1: 182,426,336 (GRCm39) L224M probably damaging Het
Cdh4 A T 2: 179,422,267 (GRCm39) E130D probably benign Het
Cgn G A 3: 94,681,550 (GRCm39) T515M probably benign Het
Chrna10 C T 7: 101,761,469 (GRCm39) G374D probably benign Het
Chrnb1 T A 11: 69,686,506 (GRCm39) Y38F probably damaging Het
Cyld A G 8: 89,471,525 (GRCm39) D621G probably benign Het
Cyp4f37 T C 17: 32,853,645 (GRCm39) F443S probably benign Het
Dctn1 C A 6: 83,166,896 (GRCm39) A152E probably damaging Het
Eml4 T A 17: 83,748,791 (GRCm39) Y228* probably null Het
Fbln2 T A 6: 91,242,839 (GRCm39) C846* probably null Het
Fut2 C T 7: 45,300,193 (GRCm39) G193E possibly damaging Het
Gart T C 16: 91,420,345 (GRCm39) S833G possibly damaging Het
Gda T C 19: 21,405,839 (GRCm39) probably null Het
Gtf2i T C 5: 134,315,558 (GRCm39) K193E probably damaging Het
H4c14 C A 3: 96,170,603 (GRCm39) K6N probably benign Het
Ints1 C T 5: 139,758,146 (GRCm39) E244K possibly damaging Het
Kat14 G A 2: 144,244,383 (GRCm39) S412N probably benign Het
Kcnn3 A T 3: 89,428,482 (GRCm39) H236L possibly damaging Het
Kif15 T A 9: 122,832,705 (GRCm39) I1005K possibly damaging Het
Klrc1 T C 6: 129,655,855 (GRCm39) T7A possibly damaging Het
Lcp2 T C 11: 34,021,033 (GRCm39) S130P probably damaging Het
Ldha T A 7: 46,500,315 (GRCm39) Y133* probably null Het
Lrp2 A G 2: 69,337,080 (GRCm39) C1231R probably damaging Het
Lrrn1 T A 6: 107,544,313 (GRCm39) V37D probably damaging Het
Mep1a T A 17: 43,788,112 (GRCm39) H648L probably benign Het
Mmp25 C T 17: 23,858,736 (GRCm39) G272R probably damaging Het
Myh15 A G 16: 48,965,801 (GRCm39) probably benign Het
Myl3 G T 9: 110,597,059 (GRCm39) E140* probably null Het
Nlrp4f A G 13: 65,332,856 (GRCm39) S809P probably damaging Het
Nrde2 T C 12: 100,110,394 (GRCm39) I207M probably null Het
Or13a26 T C 7: 140,285,046 (GRCm39) L294P probably damaging Het
Or2y8 C T 11: 52,035,637 (GRCm39) C240Y probably damaging Het
Or5p54 T C 7: 107,553,977 (GRCm39) I43T probably benign Het
Paics T G 5: 77,110,320 (GRCm39) V245G probably damaging Het
Pank1 A G 19: 34,818,255 (GRCm39) F95L probably damaging Het
Pde4dip A C 3: 97,674,416 (GRCm39) C167G probably damaging Het
Picalm C A 7: 89,840,957 (GRCm39) T542K possibly damaging Het
Piezo1 A G 8: 123,224,954 (GRCm39) Y651H probably damaging Het
Pikfyve T A 1: 65,289,353 (GRCm39) C1208* probably null Het
Pkd1l1 T A 11: 8,852,582 (GRCm39) T634S probably benign Het
Rab32 T C 10: 10,422,171 (GRCm39) T183A probably benign Het
Rad18 T C 6: 112,621,583 (GRCm39) I206V possibly damaging Het
Rbm15b T C 9: 106,762,975 (GRCm39) I398V probably benign Het
Rbm28 T C 6: 29,159,725 (GRCm39) E101G probably benign Het
Rsf1 T C 7: 97,310,434 (GRCm39) L388P probably damaging Het
Scnn1g A G 7: 121,339,588 (GRCm39) Y129C probably damaging Het
Slc7a13 G A 4: 19,839,387 (GRCm39) C330Y probably benign Het
Spock1 A T 13: 57,735,486 (GRCm39) V101E probably damaging Het
Sympk T A 7: 18,787,198 (GRCm39) W1029R probably damaging Het
Syne2 T A 12: 75,992,150 (GRCm39) H2008Q possibly damaging Het
Tgs1 T A 4: 3,585,719 (GRCm39) Y199N probably damaging Het
Trim10 T A 17: 37,188,228 (GRCm39) C481* probably null Het
Vmn2r102 A G 17: 19,898,170 (GRCm39) E395G probably damaging Het
Wfs1 A C 5: 37,125,013 (GRCm39) V626G possibly damaging Het
Zfp689 A G 7: 127,044,193 (GRCm39) S146P possibly damaging Het
Zfp786 T C 6: 47,796,775 (GRCm39) H721R probably damaging Het
Zfta C A 19: 7,397,787 (GRCm39) N111K possibly damaging Het
Other mutations in Gjb5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03376:Gjb5 APN 4 127,250,048 (GRCm39) missense probably damaging 1.00
PIT4508001:Gjb5 UTSW 4 127,250,033 (GRCm39) missense probably damaging 0.99
R2090:Gjb5 UTSW 4 127,249,794 (GRCm39) missense probably benign 0.01
R2197:Gjb5 UTSW 4 127,250,063 (GRCm39) splice site probably null
R4968:Gjb5 UTSW 4 127,250,015 (GRCm39) missense probably damaging 1.00
R5419:Gjb5 UTSW 4 127,249,652 (GRCm39) missense probably benign
R5494:Gjb5 UTSW 4 127,249,347 (GRCm39) missense probably damaging 0.99
R5664:Gjb5 UTSW 4 127,249,722 (GRCm39) missense probably benign 0.00
R5806:Gjb5 UTSW 4 127,249,718 (GRCm39) missense probably benign
R6369:Gjb5 UTSW 4 127,249,723 (GRCm39) missense possibly damaging 0.58
R6408:Gjb5 UTSW 4 127,249,940 (GRCm39) missense probably benign 0.24
R7747:Gjb5 UTSW 4 127,249,955 (GRCm39) missense probably damaging 1.00
R8488:Gjb5 UTSW 4 127,250,078 (GRCm39) missense probably damaging 0.98
Posted On 2015-12-18