Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02002:Ttyh3'

183116

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ttyh3

Ensembl Gene

ENSMUSG00000036565

Gene Name

tweety family member 3

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.083) question?

Stock #

IGL02002

Quality Score

Status

Chromosome

Chromosomal Location

140620578-140649031 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 140629483 bp

Zygosity

Heterozygous

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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
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

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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 On

2014-05-07