Incidental Mutation 'IGL01285:Ttyh3'
ID72694
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ttyh3
Ensembl Gene ENSMUSG00000036565
Gene Nametweety family member 3
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.095) question?
Stock #IGL01285
Quality Score
Status
Chromosome5
Chromosomal Location140620578-140649031 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 140629412 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Phenylalanine at position 407 (C407F)
Ref Sequence ENSEMBL: ENSMUSP00000142655 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042661] [ENSMUST00000197452]
Predicted Effect probably damaging
Transcript: ENSMUST00000042661
AA Change: C407F

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000037447
Gene: ENSMUSG00000036565
AA Change: C407F

DomainStartEndE-ValueType
Pfam:Tweety 25 430 9.4e-183 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000197452
AA Change: C407F

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000142655
Gene: ENSMUSG00000036565
AA Change: C407F

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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam5 T C 8: 24,781,594 N599S probably benign Het
Adam6a A T 12: 113,546,273 *755Y probably null Het
Adgrb3 G T 1: 25,093,787 T1166K probably benign Het
Ano1 T C 7: 144,644,742 Y345C probably benign Het
Ano1 A G 7: 144,595,538 V862A probably damaging Het
Asap2 C T 12: 21,229,263 A382V probably damaging Het
Asb18 A G 1: 89,996,241 V100A probably benign Het
Bdnf G A 2: 109,723,586 A102T probably benign Het
Ccser2 G A 14: 36,938,669 T509M probably damaging Het
Des G A 1: 75,362,583 A251T probably benign Het
Dmd C T X: 85,109,984 Q3224* probably null Het
Endog G T 2: 30,171,963 probably null Het
Ggt7 A G 2: 155,500,771 V269A probably damaging Het
Gm17727 A T 9: 35,776,748 N65K possibly damaging Het
Gm7173 A G X: 79,489,158 I767T possibly damaging Het
Gucy2c A G 6: 136,709,741 F808S probably damaging Het
Hira A G 16: 18,912,180 T210A probably benign Het
Ifitm5 C A 7: 140,950,163 R16L probably benign Het
Igdcc4 T C 9: 65,123,991 C404R probably damaging Het
Ints7 G A 1: 191,615,778 R754H probably benign Het
Irf9 A G 14: 55,607,601 E258G probably damaging Het
Megf11 T C 9: 64,660,446 C406R probably damaging Het
Olfml1 A G 7: 107,590,157 N143S possibly damaging Het
Olfr734 A G 14: 50,320,256 F193S possibly damaging Het
Olfr792 T A 10: 129,540,842 F102I probably benign Het
Olfr849 A G 9: 19,440,970 D19G probably benign Het
Otof G T 5: 30,405,183 Q254K probably damaging Het
Plcd3 A G 11: 103,077,870 F332L probably benign Het
Plxnc1 T C 10: 94,799,368 D1332G probably damaging Het
Rnasel A T 1: 153,758,384 D521V probably benign Het
Sema5a T A 15: 32,574,997 V417D possibly damaging Het
Senp6 G A 9: 80,136,718 R877Q probably benign Het
Shroom2 A T X: 152,659,357 D937E probably damaging Het
Slc35a3 A G 3: 116,694,613 S142P probably damaging Het
Srpx A T X: 10,039,059 V398E probably damaging Het
Stk10 A T 11: 32,610,653 K669N possibly damaging Het
Sumf2 A G 5: 129,849,970 D49G probably damaging Het
Syde1 T A 10: 78,588,887 E370D probably damaging Het
Tas2r115 G T 6: 132,737,678 S103R probably damaging Het
Top2a G A 11: 99,006,159 probably benign Het
Ttn T A 2: 76,720,498 T23190S probably damaging Het
Vmn2r27 G T 6: 124,192,411 H587N possibly damaging Het
Vmn2r74 A G 7: 85,957,484 I218T possibly damaging Het
Vsig10 A G 5: 117,324,889 N60S probably benign Het
Zc3h7a A G 16: 11,139,115 S877P probably damaging Het
Zfp979 G T 4: 147,615,396 T29N probably damaging Het
Znfx1 G A 2: 167,038,695 R390C possibly damaging Het
Other mutations in Ttyh3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01324:Ttyh3 APN 5 140631513 missense probably benign 0.00
IGL01982:Ttyh3 APN 5 140636074 splice site probably benign
IGL02002:Ttyh3 APN 5 140629483 missense probably damaging 1.00
IGL02218:Ttyh3 APN 5 140626491 missense probably damaging 1.00
IGL02385:Ttyh3 APN 5 140633305 missense probably benign 0.03
IGL02510:Ttyh3 APN 5 140629464 missense probably damaging 1.00
R0843:Ttyh3 UTSW 5 140626446 splice site probably null
R3037:Ttyh3 UTSW 5 140648842 start gained probably benign
R3774:Ttyh3 UTSW 5 140648734 missense probably damaging 0.99
R4795:Ttyh3 UTSW 5 140634786 missense probably damaging 1.00
R4796:Ttyh3 UTSW 5 140634786 missense probably damaging 1.00
R4868:Ttyh3 UTSW 5 140629466 missense probably damaging 1.00
R5671:Ttyh3 UTSW 5 140631552 missense probably benign 0.02
R6107:Ttyh3 UTSW 5 140633562 critical splice donor site probably null
R6363:Ttyh3 UTSW 5 140635224 missense probably damaging 1.00
R7104:Ttyh3 UTSW 5 140629785 missense probably benign 0.00
R7454:Ttyh3 UTSW 5 140629425 missense possibly damaging 0.95
R7798:Ttyh3 UTSW 5 140634783 missense probably damaging 1.00
R7810:Ttyh3 UTSW 5 140625141 missense
Posted On2013-10-07