Incidental Mutation 'IGL02002:Ttyh3'
ID183116
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: 0.083) question?
Stock #IGL02002
Quality Score
Status
Chromosome5
Chromosomal Location140620578-140649031 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 140629483 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 383 (D383E)
Ref Sequence ENSEMBL: ENSMUSP00000142655 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042661] [ENSMUST00000197452]
Predicted Effect probably damaging
Transcript: ENSMUST00000042661
AA Change: D383E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000037447
Gene: ENSMUSG00000036565
AA Change: D383E

DomainStartEndE-ValueType
Pfam:Tweety 25 430 9.4e-183 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000197452
AA Change: D383E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000142655
Gene: ENSMUSG00000036565
AA Change: D383E

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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9530053A07Rik A T 7: 28,152,796 Y1248F probably damaging Het
Abcg5 G T 17: 84,682,051 Y76* probably null Het
Acadsb T A 7: 131,428,529 V135E probably damaging Het
Acap1 A G 11: 69,884,460 Y326H probably damaging Het
Actl11 T A 9: 107,929,330 V284D probably benign Het
Adcy10 G T 1: 165,521,843 D428Y probably damaging Het
Akap8 A G 17: 32,309,496 C481R probably damaging Het
Amotl2 G A 9: 102,725,117 A26T probably damaging Het
Apob T C 12: 7,994,822 V814A probably benign Het
Casp8ap2 T A 4: 32,639,391 N148K probably damaging Het
Ccdc149 G A 5: 52,406,079 T124M probably damaging Het
Cd320 A G 17: 33,843,240 probably benign Het
Clca4b T C 3: 144,932,433 T23A probably benign Het
Col22a1 A G 15: 71,811,097 probably benign Het
Col24a1 T A 3: 145,356,944 F675I possibly damaging Het
Col6a3 A G 1: 90,782,136 probably benign Het
Dap3 A T 3: 88,936,228 M19K probably benign Het
Dsg2 A G 18: 20,579,176 D123G probably damaging Het
Dysf T A 6: 84,210,787 probably benign Het
Erbb4 A G 1: 68,080,726 S853P probably damaging Het
Fbn2 A G 18: 58,114,553 M423T probably benign Het
Fgfr1 T C 8: 25,555,711 Y112H probably damaging Het
Gbp7 G A 3: 142,538,900 A203T probably damaging Het
Gon4l C T 3: 88,895,336 P1085S possibly damaging Het
Gsdma2 T C 11: 98,650,974 F176L probably damaging Het
Haghl A G 17: 25,784,265 F131S probably damaging Het
Hmcn1 G A 1: 150,615,298 P4167S probably damaging Het
Hscb T C 5: 110,830,954 N199D probably benign Het
Lmbr1l T A 15: 98,904,785 N428Y probably damaging Het
Mc2r T A 18: 68,407,434 M263L probably benign Het
Metap1 T A 3: 138,462,389 T325S probably damaging Het
Mff A G 1: 82,741,975 R225G probably damaging Het
Naprt A T 15: 75,891,372 L474Q probably damaging Het
Nin A T 12: 70,062,699 Y155* probably null Het
Nrg3 A T 14: 38,370,767 C612* probably null Het
Olfr170 T C 16: 19,606,550 I39M possibly damaging Het
Olfr472 A T 7: 107,903,290 D191V possibly damaging Het
Olfr781 T A 10: 129,333,127 I82K probably damaging Het
Pdilt A T 7: 119,500,444 F200L probably damaging Het
Ppard T G 17: 28,298,903 F315C probably damaging Het
Ror1 T A 4: 100,441,184 S585T probably damaging Het
Spdye4a T A 5: 143,225,705 I35F possibly damaging Het
Tenm2 T C 11: 36,207,095 K442R probably benign Het
Tln2 A G 9: 67,356,698 I553T probably damaging Het
Tmem269 T A 4: 119,214,141 I26F probably benign Het
Tsen2 T C 6: 115,559,607 V108A probably benign Het
Usp13 T C 3: 32,847,825 S102P probably damaging Het
Vmn2r118 T G 17: 55,592,619 S762R probably damaging Het
Washc4 A G 10: 83,579,543 N799S possibly damaging Het
Zcchc6 A G 13: 59,782,096 S1042P possibly damaging Het
Zdhhc17 C T 10: 110,967,689 V256I probably benign Het
Zfp51 T A 17: 21,463,959 F279I probably damaging Het
Zzz3 A G 3: 152,451,369 T223A probably damaging Het
Other mutations in Ttyh3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01285:Ttyh3 APN 5 140629412 missense probably damaging 0.99
IGL01324:Ttyh3 APN 5 140631513 missense probably benign 0.00
IGL01982:Ttyh3 APN 5 140636074 splice site probably benign
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
Posted On2014-05-07