Mutagenetix > Incidental Mutation

Incidental Mutation 'R4497:Ttyh2'

331034

Institutional Source

Beutler Lab

Gene Symbol

Ttyh2

Ensembl Gene

ENSMUSG00000034714

Gene Name

tweety family member 2

Synonyms

1110001A03Rik

MMRRC Submission

041750-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

R4497 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

114566294-114611810 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 114601789 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 471 (Q471L)

Ref Sequence

ENSEMBL: ENSMUSP00000037821 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045779]

AlphaFold

Q3TH73

Predicted Effect

possibly damaging
Transcript: ENSMUST00000045779
AA Change: Q471L

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000037821
Gene: ENSMUSG00000034714
AA Change: Q471L

Domain	Start	End	E-Value	Type
Pfam:Tweety	27	433	2.5e-184	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.9%

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, and may play a role in kidney tumorigenesis. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aco2	G	A	15: 81,779,486 (GRCm39)	A97T	probably damaging	Het
Adat1	T	C	8: 112,705,994 (GRCm39)	S371G	probably benign	Het
Aoc3	T	G	11: 101,222,871 (GRCm39)	I369R	possibly damaging	Het
Apobr	A	T	7: 126,186,694 (GRCm39)		probably null	Het
Arhgap12	A	T	18: 6,111,774 (GRCm39)	C69S	probably damaging	Het
Astn2	A	G	4: 66,037,300 (GRCm39)		probably benign	Het
Bcas1	T	C	2: 170,248,741 (GRCm39)	D60G	probably damaging	Het
Cacnb4	T	A	2: 52,367,783 (GRCm39)	D62V	probably damaging	Het
Cbx8	C	A	11: 118,931,618 (GRCm39)	R20L	probably damaging	Het
Ccdc92	G	A	5: 124,913,337 (GRCm39)	T64M	probably benign	Het
Cps1	G	T	1: 67,244,358 (GRCm39)	S1135I	probably null	Het
Eml2	G	A	7: 18,913,275 (GRCm39)	R91H	probably damaging	Het
Fbxl3	G	A	14: 103,320,313 (GRCm39)	P426L	probably damaging	Het
Fhod3	T	A	18: 25,243,296 (GRCm39)		probably null	Het
Gabrb2	T	C	11: 42,488,521 (GRCm39)	I329T	probably benign	Het
Gli3	T	A	13: 15,898,156 (GRCm39)	D745E	possibly damaging	Het
Itprid2	T	A	2: 79,488,164 (GRCm39)	V749E	probably damaging	Het
Lacc1	T	A	14: 77,271,470 (GRCm39)	N239I	probably damaging	Het
Lamb2	T	A	9: 108,363,997 (GRCm39)	C1008S	probably damaging	Het
Man2b1	G	A	8: 85,817,565 (GRCm39)	V349I	probably benign	Het
Mib1	A	G	18: 10,811,985 (GRCm39)	T961A	possibly damaging	Het
Mmp24	A	G	2: 155,655,908 (GRCm39)	I449V	possibly damaging	Het
Myo7b	A	G	18: 32,147,282 (GRCm39)	I87T	probably benign	Het
Or13c7b	A	G	4: 43,821,175 (GRCm39)	F62S	probably damaging	Het
Or5p72	T	A	7: 108,022,122 (GRCm39)	C115S	probably benign	Het
Pgr	A	G	9: 8,958,420 (GRCm39)	E809G	probably damaging	Het
Ppp1r3g	T	A	13: 36,153,603 (GRCm39)	V341E	probably benign	Het
Prkdc	T	A	16: 15,518,517 (GRCm39)	S1091T	probably benign	Het
Rab44	G	A	17: 29,358,871 (GRCm39)	R353K	probably benign	Het
Reck	G	A	4: 43,891,001 (GRCm39)	M46I	probably benign	Het
Rorb	G	T	19: 18,954,992 (GRCm39)	S208Y	possibly damaging	Het
Serinc2	G	T	4: 130,147,847 (GRCm39)	T410N	possibly damaging	Het
Slc23a2	G	A	2: 131,898,702 (GRCm39)	R612*	probably null	Het
Slx4	T	C	16: 3,812,773 (GRCm39)	E145G	probably damaging	Het
Spag16	A	G	1: 70,532,989 (GRCm39)	D556G	probably damaging	Het
Spopl	C	T	2: 23,407,957 (GRCm39)	V241M	probably damaging	Het
Tmf1	A	T	6: 97,149,293 (GRCm39)	F485I	probably benign	Het
Trmo	C	T	4: 46,382,140 (GRCm39)	V326M	probably damaging	Het
Tssk5	T	C	15: 76,256,411 (GRCm39)	D336G	probably damaging	Het
Wdr33	A	C	18: 32,026,132 (GRCm39)	Q944H	unknown	Het
Wdr55	G	A	18: 36,893,448 (GRCm39)	V37M	possibly damaging	Het
Zbtb18	A	T	1: 177,274,687 (GRCm39)	S7C	probably damaging	Het
Zfhx4	G	A	3: 5,464,680 (GRCm39)	V1638M	possibly damaging	Het
Zfp81	A	T	17: 33,553,677 (GRCm39)	I379N	possibly damaging	Het

Other mutations in Ttyh2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03048:Ttyh2	UTSW	11	114,587,521 (GRCm39)	missense	probably benign	0.38
IGL03050:Ttyh2	UTSW	11	114,599,680 (GRCm39)	missense	probably damaging	1.00
R0088:Ttyh2	UTSW	11	114,581,081 (GRCm39)	missense	probably damaging	1.00
R0734:Ttyh2	UTSW	11	114,601,019 (GRCm39)	splice site	probably benign
R1163:Ttyh2	UTSW	11	114,601,714 (GRCm39)	missense	probably benign
R1433:Ttyh2	UTSW	11	114,601,005 (GRCm39)	missense	probably benign	0.03
R1531:Ttyh2	UTSW	11	114,577,278 (GRCm39)	missense	probably damaging	1.00
R1709:Ttyh2	UTSW	11	114,599,301 (GRCm39)	missense	probably damaging	1.00
R3709:Ttyh2	UTSW	11	114,609,958 (GRCm39)	missense	possibly damaging	0.68
R4641:Ttyh2	UTSW	11	114,592,609 (GRCm39)	missense	probably damaging	1.00
R4970:Ttyh2	UTSW	11	114,587,583 (GRCm39)	missense	probably benign	0.00
R5112:Ttyh2	UTSW	11	114,587,583 (GRCm39)	missense	probably benign	0.00
R5328:Ttyh2	UTSW	11	114,600,894 (GRCm39)	missense	possibly damaging	0.90
R5587:Ttyh2	UTSW	11	114,566,485 (GRCm39)	missense	probably benign	0.01
R5744:Ttyh2	UTSW	11	114,593,136 (GRCm39)	critical splice donor site	probably null
R6302:Ttyh2	UTSW	11	114,592,662 (GRCm39)	missense	probably damaging	1.00
R7847:Ttyh2	UTSW	11	114,566,500 (GRCm39)	critical splice donor site	probably null
R7890:Ttyh2	UTSW	11	114,577,272 (GRCm39)	missense	possibly damaging	0.68
R7957:Ttyh2	UTSW	11	114,599,690 (GRCm39)	splice site	probably null
R8851:Ttyh2	UTSW	11	114,593,090 (GRCm39)	missense	probably benign
R9421:Ttyh2	UTSW	11	114,587,633 (GRCm39)	nonsense	probably null
R9606:Ttyh2	UTSW	11	114,601,667 (GRCm39)	missense	probably benign	0.00
R9641:Ttyh2	UTSW	11	114,598,516 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATTGGGAGCACAGTAGGACC -3'
(R):5'- GTCAGAAAGATCAAGTTTGGCC -3'

Sequencing Primer
(F):5'- TTGAGGCTCACCCCTAATGG -3'
(R):5'- AAAGATCAAGTTTGGCCTCTGG -3'

Posted On

2015-07-21