Mutagenetix > Incidental Mutation

Incidental Mutation 'R0843:Ttyh3'

77250

Institutional Source

Beutler Lab

Gene Symbol

Ttyh3

Ensembl Gene

ENSMUSG00000036565

Gene Name

tweety family member 3

Synonyms

2900029G13Rik

MMRRC Submission

039022-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.108) question?

Stock #

R0843 (G1)

Quality Score

220

Status

Validated

Chromosome

Chromosomal Location

140606333-140634786 bp(-) (GRCm39)

Type of Mutation

splice site (5 bp from exon)

DNA Base Change (assembly)

C to A at 140612201 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

Q6P5F7

Predicted Effect

probably null
Transcript: ENSMUST00000042661

SMART Domains

Protein: ENSMUSP00000037447
Gene: ENSMUSG00000036565

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

probably null
Transcript: ENSMUST00000199157

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.3%
3x: 98.5%
10x: 96.5%
20x: 92.6%

Validation Efficiency

98% (40/41)

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adrb2	T	C	18: 62,312,142 (GRCm39)	R228G	probably benign	Het
Arrdc3	T	C	13: 81,038,922 (GRCm39)		probably benign	Het
Cacna1d	T	C	14: 29,846,828 (GRCm39)	Y526C	probably damaging	Het
Cenpn	T	C	8: 117,660,045 (GRCm39)	V125A	probably benign	Het
Cyfip1	A	T	7: 55,572,568 (GRCm39)	H963L	probably benign	Het
Dnah8	T	C	17: 31,032,069 (GRCm39)	Y4130H	probably damaging	Het
Dnmt3a	T	C	12: 3,922,886 (GRCm39)		probably benign	Het
Dync1h1	C	T	12: 110,631,647 (GRCm39)	T4448M	possibly damaging	Het
Efr3a	T	A	15: 65,709,272 (GRCm39)		probably benign	Het
Fgf11	T	G	11: 69,689,602 (GRCm39)		probably benign	Het
Gabrr1	T	A	4: 33,161,717 (GRCm39)	I347N	possibly damaging	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Hspa1b	T	A	17: 35,176,524 (GRCm39)	N487I	possibly damaging	Het
Ifi207	A	T	1: 173,555,143 (GRCm39)	N853K	probably damaging	Het
Iqgap3	A	G	3: 88,015,738 (GRCm39)	D40G	possibly damaging	Het
Iyd	T	C	10: 3,495,663 (GRCm39)	V107A	possibly damaging	Het
Kctd3	A	T	1: 188,729,170 (GRCm39)	L129*	probably null	Het
Myo7b	A	G	18: 32,107,137 (GRCm39)	F1286S	possibly damaging	Het
Or4a47	C	T	2: 89,665,960 (GRCm39)	V110I	probably benign	Het
Or52s1b	T	A	7: 102,822,326 (GRCm39)	T173S	possibly damaging	Het
Or8c15	T	A	9: 38,120,579 (GRCm39)	F77I	possibly damaging	Het
Pcsk5	T	A	19: 17,632,182 (GRCm39)	Y328F	probably damaging	Het
Plxnb1	T	C	9: 108,942,769 (GRCm39)	L1810P	probably benign	Het
Polr2h	T	A	16: 20,537,649 (GRCm39)	V50E	probably damaging	Het
Ppm1g	T	C	5: 31,364,895 (GRCm39)		probably benign	Het
Ptpru	T	A	4: 131,525,259 (GRCm39)	R741S	probably benign	Het
Pyroxd2	T	C	19: 42,735,986 (GRCm39)	E64G	probably damaging	Het
Rad54b	T	C	4: 11,609,471 (GRCm39)		probably null	Het
Rangap1	A	T	15: 81,594,703 (GRCm39)	D375E	probably benign	Het
Rhbdf1	G	A	11: 32,165,053 (GRCm39)	R107C	probably damaging	Het
Scaf11	T	C	15: 96,329,706 (GRCm39)	E140G	probably damaging	Het
Slitrk6	G	T	14: 110,987,530 (GRCm39)	H726N	probably benign	Het
Spry2	A	G	14: 106,130,524 (GRCm39)	C221R	probably damaging	Het
Stx2	C	T	5: 129,076,612 (GRCm39)	V24M	probably damaging	Het
Tent5b	T	C	4: 133,213,842 (GRCm39)	S238P	probably damaging	Het
Tll2	T	A	19: 41,116,902 (GRCm39)		probably null	Het
Vmn2r116	T	C	17: 23,619,934 (GRCm39)	V556A	probably benign	Het
Xpo5	T	C	17: 46,533,576 (GRCm39)		probably benign	Het
Zc3h3	A	G	15: 75,709,328 (GRCm39)	S514P	probably benign	Het
Zfp277	A	C	12: 40,370,599 (GRCm39)		probably null	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
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
IGL02510:Ttyh3	APN	5	140,615,219 (GRCm39)	missense	probably damaging	1.00
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

Predicted Primers

PCR Primer
(F):5'- GACCCACCCAGCCCCATTTATTTAG -3'
(R):5'- CTGCCTTTGTGGTAGGCTAGTAACC -3'

Sequencing Primer
(F):5'- ATTTAGGCCCTGGCATTGC -3'
(R):5'- ctaaaccaaaccaataacaaataccc -3'

Posted On

2013-10-16