Incidental Mutation 'IGL02510:Ttyh3'
ID 296518
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ttyh3
Ensembl Gene ENSMUSG00000036565
Gene Name tweety family member 3
Synonyms 2900029G13Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.109) question?
Stock # IGL02510
Quality Score
Status
Chromosome 5
Chromosomal Location 140606333-140634786 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 140615219 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 390 (Y390H)
Ref Sequence ENSEMBL: ENSMUSP00000142655 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042661] [ENSMUST00000197452]
AlphaFold Q6P5F7
Predicted Effect probably damaging
Transcript: ENSMUST00000042661
AA Change: Y390H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000037447
Gene: ENSMUSG00000036565
AA Change: Y390H

DomainStartEndE-ValueType
Pfam:Tweety 25 430 9.4e-183 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000197452
AA Change: Y390H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000142655
Gene: ENSMUSG00000036565
AA Change: Y390H

DomainStartEndE-ValueType
Pfam:Tweety 25 430 1.8e-182 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198704
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198765
Predicted Effect probably benign
Transcript: ENSMUST00000199157
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 tweety family of proteins. Members of this family function as chloride anion channels. The encoded protein functions as a calcium(2+)-activated large conductance chloride(-) channel. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts4 G A 1: 171,078,959 (GRCm39) S193N probably benign Het
Arrdc1 C A 2: 24,825,112 (GRCm39) V16F probably damaging Het
Bhmt1b A G 18: 87,775,653 (GRCm39) Q392R probably benign Het
Bsx A T 9: 40,785,517 (GRCm39) Q15L possibly damaging Het
Casp8ap2 A G 4: 32,639,704 (GRCm39) T253A probably benign Het
Cdkl3 T C 11: 51,902,097 (GRCm39) L102P probably damaging Het
Cgnl1 G T 9: 71,632,639 (GRCm39) N237K probably benign Het
Cldn14 T A 16: 93,716,844 (GRCm39) M1L probably damaging Het
Col1a2 C T 6: 4,516,398 (GRCm39) R171C unknown Het
Col7a1 C A 9: 108,802,299 (GRCm39) probably benign Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Dhrs2 G A 14: 55,473,532 (GRCm39) V64M probably damaging Het
Disp3 G A 4: 148,337,158 (GRCm39) H886Y probably benign Het
Dst G A 1: 34,268,332 (GRCm39) probably null Het
Fnbp4 T C 2: 90,581,819 (GRCm39) V215A probably benign Het
Fzd9 A G 5: 135,278,469 (GRCm39) L472P probably damaging Het
Hpd C T 5: 123,319,973 (GRCm39) R15Q possibly damaging Het
Htra2 A G 6: 83,028,592 (GRCm39) V412A probably damaging Het
Ift80 A G 3: 68,805,876 (GRCm39) F722S probably benign Het
Kcnq2 T C 2: 180,723,154 (GRCm39) T741A probably benign Het
Kl A C 5: 150,912,466 (GRCm39) E738D probably damaging Het
Klra4 T A 6: 130,036,506 (GRCm39) I178L probably damaging Het
Klra9 T C 6: 130,168,185 (GRCm39) E27G probably benign Het
Kntc1 T C 5: 123,957,125 (GRCm39) Y2145H probably benign Het
Mbd5 T A 2: 49,147,041 (GRCm39) M417K probably benign Het
Med31 C T 11: 72,102,882 (GRCm39) M75I probably benign Het
Mpeg1 A T 19: 12,438,788 (GRCm39) D82V probably damaging Het
Msto1 A G 3: 88,817,652 (GRCm39) Y439H probably damaging Het
Or1e17 G A 11: 73,831,831 (GRCm39) G253E probably damaging Het
Or1j15 T C 2: 36,458,693 (GRCm39) S28P possibly damaging Het
Or2av9 T C 11: 58,381,365 (GRCm39) Y72C probably damaging Het
Or5p64 T A 7: 107,855,348 (GRCm39) probably benign Het
Prtg G A 9: 72,798,151 (GRCm39) V706M probably damaging Het
Sfxn2 G T 19: 46,576,711 (GRCm39) A186S probably benign Het
Slc12a5 A T 2: 164,824,728 (GRCm39) probably benign Het
Slc7a3 T C X: 100,126,439 (GRCm39) E222G probably benign Het
Stox1 A T 10: 62,499,826 (GRCm39) H911Q probably benign Het
Sult3a2 A T 10: 33,642,435 (GRCm39) N289K probably benign Het
Supt20 A G 3: 54,622,945 (GRCm39) probably benign Het
Tchh A G 3: 93,351,385 (GRCm39) E275G unknown Het
Tectb A T 19: 55,179,943 (GRCm39) N263I probably damaging Het
Tsga10 C T 1: 37,800,066 (GRCm39) R608Q possibly damaging Het
Utf1 C A 7: 139,523,929 (GRCm39) S48* probably null Het
Zfp358 G A 8: 3,546,786 (GRCm39) G456D probably benign Het
Zup1 A G 10: 33,806,150 (GRCm39) probably null Het
Other mutations in Ttyh3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01285:Ttyh3 APN 5 140,615,167 (GRCm39) missense probably damaging 0.99
IGL01324:Ttyh3 APN 5 140,617,268 (GRCm39) missense probably benign 0.00
IGL01982:Ttyh3 APN 5 140,621,829 (GRCm39) splice site probably benign
IGL02002:Ttyh3 APN 5 140,615,238 (GRCm39) missense probably damaging 1.00
IGL02218:Ttyh3 APN 5 140,612,246 (GRCm39) missense probably damaging 1.00
IGL02385:Ttyh3 APN 5 140,619,060 (GRCm39) missense probably benign 0.03
R0843:Ttyh3 UTSW 5 140,612,201 (GRCm39) splice site probably null
R3037:Ttyh3 UTSW 5 140,634,597 (GRCm39) start gained probably benign
R3774:Ttyh3 UTSW 5 140,634,489 (GRCm39) missense probably damaging 0.99
R4795:Ttyh3 UTSW 5 140,620,541 (GRCm39) missense probably damaging 1.00
R4796:Ttyh3 UTSW 5 140,620,541 (GRCm39) missense probably damaging 1.00
R4868:Ttyh3 UTSW 5 140,615,221 (GRCm39) missense probably damaging 1.00
R5671:Ttyh3 UTSW 5 140,617,307 (GRCm39) missense probably benign 0.02
R6107:Ttyh3 UTSW 5 140,619,317 (GRCm39) critical splice donor site probably null
R6363:Ttyh3 UTSW 5 140,620,979 (GRCm39) missense probably damaging 1.00
R7104:Ttyh3 UTSW 5 140,615,540 (GRCm39) missense probably benign 0.00
R7454:Ttyh3 UTSW 5 140,615,180 (GRCm39) missense possibly damaging 0.95
R7798:Ttyh3 UTSW 5 140,620,538 (GRCm39) missense probably damaging 1.00
R7810:Ttyh3 UTSW 5 140,610,896 (GRCm39) missense
R8690:Ttyh3 UTSW 5 140,612,945 (GRCm39) missense probably benign 0.02
R8690:Ttyh3 UTSW 5 140,612,944 (GRCm39) missense probably damaging 0.98
R9162:Ttyh3 UTSW 5 140,621,820 (GRCm39) missense possibly damaging 0.91
Posted On 2015-04-16