Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02218:Ttyh3'

285004

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 #

IGL02218

Quality Score

Status

Chromosome

Chromosomal Location

140606333-140634786 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 140612246 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 487 (E487G)

Ref Sequence

ENSEMBL: ENSMUSP00000037447 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042661] [ENSMUST00000197452]

AlphaFold

Q6P5F7

Predicted Effect

probably damaging
Transcript: ENSMUST00000042661
AA Change: E487G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000037447
Gene: ENSMUSG00000036565
AA Change: E487G

Domain	Start	End	E-Value	Type
Pfam:Tweety	25	430	9.4e-183	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000197452

SMART Domains

Protein: ENSMUSP00000142655
Gene: ENSMUSG00000036565

Domain	Start	End	E-Value	Type
Pfam:Tweety	25	430	1.8e-182	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198765

Predicted Effect

unknown
Transcript: ENSMUST00000199157
AA Change: E67G

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730409E04Rik	A	G	4: 126,505,838 (GRCm39)	D122G	probably benign	Het
Abcc8	T	C	7: 45,769,860 (GRCm39)	D885G	probably benign	Het
Abcf1	T	C	17: 36,269,230 (GRCm39)	K676R	probably benign	Het
Acsf2	A	G	11: 94,492,589 (GRCm39)	V3A	probably benign	Het
Apba2	C	T	7: 64,345,425 (GRCm39)	T205I	probably benign	Het
Bricd5	C	A	17: 24,694,296 (GRCm39)	Y171*	probably null	Het
Camk2d	T	G	3: 126,633,802 (GRCm39)	N441K	probably benign	Het
Carm1	T	C	9: 21,480,808 (GRCm39)	V94A	probably damaging	Het
Chd3	C	T	11: 69,242,920 (GRCm39)		probably benign	Het
Cipc	A	G	12: 87,008,702 (GRCm39)	N166S	probably damaging	Het
Cln5	A	C	14: 103,313,276 (GRCm39)		probably null	Het
Cnbd1	C	A	4: 18,887,739 (GRCm39)	Q258H	probably benign	Het
Cyp8b1	A	G	9: 121,744,183 (GRCm39)	L383P	probably damaging	Het
Dnai4	A	G	4: 102,953,971 (GRCm39)	V76A	probably damaging	Het
Dok3	A	G	13: 55,671,599 (GRCm39)	L324P	probably damaging	Het
Eftud2	A	T	11: 102,761,039 (GRCm39)	F102Y	possibly damaging	Het
Ewsr1	G	A	11: 5,020,668 (GRCm39)	P551S	unknown	Het
Fam193a	G	T	5: 34,600,932 (GRCm39)	V346L	possibly damaging	Het
Golim4	A	G	3: 75,785,361 (GRCm39)	S677P	probably damaging	Het
Gpr149	A	G	3: 62,437,952 (GRCm39)		probably benign	Het
Ins1	A	T	19: 52,253,121 (GRCm39)	K20N	probably benign	Het
Itpr2	A	T	6: 146,141,760 (GRCm39)		probably benign	Het
Jup	G	A	11: 100,272,665 (GRCm39)	T249I	probably damaging	Het
Kctd20	T	A	17: 29,176,877 (GRCm39)	N2K	probably benign	Het
Kif15	A	G	9: 122,824,892 (GRCm39)		probably benign	Het
Klrb1-ps1	T	C	6: 129,106,269 (GRCm39)		noncoding transcript	Het
Krtap29-1	T	C	11: 99,869,884 (GRCm39)		probably null	Het
Lamb3	A	T	1: 193,010,941 (GRCm39)		probably null	Het
Large1	A	G	8: 73,638,750 (GRCm39)	W276R	probably damaging	Het
Lrp1b	T	C	2: 41,185,684 (GRCm39)	N603D	probably benign	Het
Lrrc37a	A	G	11: 103,391,207 (GRCm39)	V1406A	probably benign	Het
Lrrc74a	A	G	12: 86,795,822 (GRCm39)	D265G	probably benign	Het
Lrrfip2	G	A	9: 111,048,793 (GRCm39)	C250Y	probably benign	Het
Mbtd1	A	G	11: 93,822,629 (GRCm39)		probably benign	Het
Msr1	A	G	8: 40,042,357 (GRCm39)	V406A	possibly damaging	Het
Mtfr1l	C	T	4: 134,256,491 (GRCm39)	D225N	probably benign	Het
Nckap1l	T	A	15: 103,391,954 (GRCm39)	S796R	possibly damaging	Het
Oaf	T	A	9: 43,136,219 (GRCm39)	H119L	probably benign	Het
Or4d1	A	T	11: 87,804,889 (GRCm39)	M281K	probably damaging	Het
Pik3c2g	A	T	6: 139,806,081 (GRCm39)	H516L	probably damaging	Het
Pkd1l3	A	T	8: 110,387,434 (GRCm39)	I1793F	possibly damaging	Het
Ptpra	A	G	2: 130,394,255 (GRCm39)		probably benign	Het
Slc25a27	C	T	17: 43,974,964 (GRCm39)		probably null	Het
Slc2a2	A	T	3: 28,752,174 (GRCm39)	E3D	possibly damaging	Het
Slc35f5	T	C	1: 125,512,292 (GRCm39)	F14S	probably damaging	Het
Sspn	T	C	6: 145,907,112 (GRCm39)	V105A	probably damaging	Het
Syvn1	T	C	19: 6,100,229 (GRCm39)	I263T	probably damaging	Het
Tek	A	C	4: 94,743,574 (GRCm39)	D863A	probably damaging	Het
Tent5b	C	T	4: 133,213,462 (GRCm39)	A111V	probably damaging	Het
Tm9sf4	G	T	2: 153,046,536 (GRCm39)	V592F	probably benign	Het
Tmem259	A	G	10: 79,814,151 (GRCm39)	M354T	possibly damaging	Het
Ttf2	T	C	3: 100,871,409 (GRCm39)	E84G	possibly damaging	Het
Ubtf	C	A	11: 102,197,526 (GRCm39)	E709*	probably null	Het
Vmn1r119	T	C	7: 20,745,561 (GRCm39)	R274G	probably benign	Het
Zfp804a	A	G	2: 82,089,546 (GRCm39)	Q1125R	probably damaging	Het

Other mutations in Ttyh3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
IGL02385:Ttyh3	APN	5	140,619,060 (GRCm39)	missense	probably benign	0.03
IGL02510:Ttyh3	APN	5	140,615,219 (GRCm39)	missense	probably damaging	1.00
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