Mutagenetix > Incidental Mutation

Incidental Mutation 'R7890:Ttyh2'

609287

Institutional Source

Beutler Lab

Gene Symbol

Ttyh2

Ensembl Gene

ENSMUSG00000034714

Gene Name

tweety family member 2

Synonyms

1110001A03Rik

MMRRC Submission

045942-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R7890 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

114566294-114611810 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 114577272 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 61 (I61N)

Ref Sequence

ENSEMBL: ENSMUSP00000037821 (fasta)

Gene Model

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

AlphaFold

Q3TH73

Predicted Effect

possibly damaging
Transcript: ENSMUST00000045779
AA Change: I61N

PolyPhen 2 Score 0.683 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000037821
Gene: ENSMUSG00000034714
AA Change: I61N

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (61/61)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	T	A	5: 77,031,969 (GRCm39)	K551N	probably benign	Het
Acp4	A	C	7: 43,903,528 (GRCm39)	L262R	probably damaging	Het
Acsf3	G	T	8: 123,512,704 (GRCm39)		probably null	Het
Ago4	T	C	4: 126,419,869 (GRCm39)	Q36R	probably benign	Het
Ankrd31	T	A	13: 96,968,379 (GRCm39)	I672K	probably benign	Het
Astn1	A	T	1: 158,407,903 (GRCm39)	D628V	probably damaging	Het
Brca2	T	C	5: 150,462,846 (GRCm39)	V870A	possibly damaging	Het
Camk4	T	C	18: 33,318,058 (GRCm39)	V405A	probably benign	Het
Carmil1	A	T	13: 24,197,215 (GRCm39)	S146T		Het
Cflar	T	A	1: 58,791,915 (GRCm39)	L406Q		Het
Clic6	T	A	16: 92,296,275 (GRCm39)	S312T	probably benign	Het
Col5a2	T	C	1: 45,444,147 (GRCm39)		probably null	Het
Ctc1	C	A	11: 68,917,355 (GRCm39)	Q384K	probably damaging	Het
Defa24	A	G	8: 22,224,556 (GRCm39)	K2E	probably damaging	Het
Dis3l	C	A	9: 64,229,753 (GRCm39)	A309S	probably benign	Het
Dnah9	A	G	11: 65,962,898 (GRCm39)	S1806P	probably damaging	Het
Dolk	C	T	2: 30,174,726 (GRCm39)	V440I	probably damaging	Het
Erc2	A	G	14: 27,762,298 (GRCm39)		probably null	Het
Fntb	T	C	12: 76,920,224 (GRCm39)		probably null	Het
Gm4846	A	T	1: 166,322,228 (GRCm39)	V113E	probably benign	Het
Gm5592	G	T	7: 40,936,183 (GRCm39)	Q228H	probably damaging	Het
Gm5916	T	A	9: 36,032,291 (GRCm39)	T48S	possibly damaging	Het
Ift172	G	T	5: 31,440,425 (GRCm39)	Y287*	probably null	Het
Il27ra	T	C	8: 84,760,614 (GRCm39)	I450M	probably damaging	Het
Krtap31-2	T	A	11: 99,827,377 (GRCm39)	C70S	possibly damaging	Het
Lipo4	T	A	19: 33,478,964 (GRCm39)	H292L	probably damaging	Het
Lyst	T	C	13: 13,915,154 (GRCm39)	F3283L	probably damaging	Het
Mctp1	T	G	13: 76,975,876 (GRCm39)	C750G	probably damaging	Het
Msantd5	C	T	11: 51,125,665 (GRCm39)	S196L	probably damaging	Het
Mtmr7	T	C	8: 41,004,776 (GRCm39)	D600G	possibly damaging	Het
Mylk	C	T	16: 34,784,018 (GRCm39)	Q1395*	probably null	Het
Nap1l5	T	A	6: 58,883,873 (GRCm39)	D27V	probably damaging	Het
Nfkbib	T	C	7: 28,461,512 (GRCm39)	D75G	probably damaging	Het
Nlrc4	T	A	17: 74,744,503 (GRCm39)	M793L	probably benign	Het
Or13m2-ps1	T	A	6: 42,778,426 (GRCm39)	C250*	probably null	Het
Or52ab4	G	T	7: 102,987,537 (GRCm39)	C92F	probably benign	Het
Or5p52	T	C	7: 107,502,250 (GRCm39)	S109P	probably benign	Het
Or7g19	T	C	9: 18,856,799 (GRCm39)	M285T	probably benign	Het
Or8g37	C	T	9: 39,731,310 (GRCm39)	A125V	probably damaging	Het
Pcdh15	G	A	10: 74,478,146 (GRCm39)	R207Q	probably damaging	Het
Plek	T	C	11: 16,945,238 (GRCm39)	T54A	probably benign	Het
Pno1	C	A	11: 17,161,443 (GRCm39)	R22L	probably benign	Het
Prkca	A	T	11: 107,903,510 (GRCm39)	N287K	probably damaging	Het
Rapgef6	C	G	11: 54,517,549 (GRCm39)	H414D	probably damaging	Het
Rpa1	CA	C	11: 75,198,050 (GRCm39)		probably null	Het
Rpap2	T	C	5: 107,754,777 (GRCm39)	C136R	probably damaging	Het
Rtl1	C	T	12: 109,559,251 (GRCm39)	E863K	possibly damaging	Het
Ryr3	A	T	2: 112,757,257 (GRCm39)	I366N	probably damaging	Het
Scn9a	T	C	2: 66,373,456 (GRCm39)	I508V	probably benign	Het
Sec14l3	A	G	11: 4,024,795 (GRCm39)	D248G	probably damaging	Het
Six6	A	T	12: 72,987,317 (GRCm39)	Q163L	probably benign	Het
Slco6c1	A	G	1: 96,990,192 (GRCm39)	V683A	possibly damaging	Het
Smc1b	A	G	15: 84,950,529 (GRCm39)	V1165A	probably damaging	Het
Smgc	A	T	15: 91,731,279 (GRCm39)	Q241L	possibly damaging	Het
Tdrp	A	T	8: 14,005,727 (GRCm39)	S65T	probably damaging	Het
Tg	A	T	15: 66,555,663 (GRCm39)	Y785F	probably damaging	Het
Themis2	T	G	4: 132,516,954 (GRCm39)	Q182P	probably damaging	Het
Tmem86b	G	T	7: 4,631,404 (GRCm39)	S216*	probably null	Het
Vmn2r97	A	T	17: 19,149,802 (GRCm39)	T397S	probably benign	Het
Zfp141	C	T	7: 42,125,903 (GRCm39)	D190N	probably damaging	Het
Zfp58	T	C	13: 67,640,114 (GRCm39)	R126G	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
R4497:Ttyh2	UTSW	11	114,601,789 (GRCm39)	missense	possibly damaging	0.94
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
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'- AAATGTAGGGCAGGCTGTCTG -3'
(R):5'- GCTCATCCAGGTGTTAGCTTGG -3'

Sequencing Primer
(F):5'- CTGTCTAGAGGGCTGGGCATAAG -3'
(R):5'- TGAACGTGGCTAGACACTG -3'

Posted On

2019-12-20