Mutagenetix > Incidental Mutation

Incidental Mutation 'R5744:Ttyh2'

462705

Institutional Source

Beutler Lab

Gene Symbol

Ttyh2

Ensembl Gene

ENSMUSG00000034714

Gene Name

tweety family member 2

Synonyms

1110001A03Rik

MMRRC Submission

043197-MU

Accession Numbers

Essential gene?

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

Stock #

R5744 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

114566294-114611810 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 114593136 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000037821 (fasta)

Gene Model

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

AlphaFold

Q3TH73

Predicted Effect

probably null
Transcript: ENSMUST00000045779

SMART Domains

Protein: ENSMUSP00000037821
Gene: ENSMUSG00000034714

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

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.9%

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldoart2	A	G	12: 55,612,131 (GRCm39)	I19V	possibly damaging	Het
Ascc3	T	C	10: 50,586,977 (GRCm39)	I943T	probably benign	Het
Btaf1	T	C	19: 36,981,890 (GRCm39)	V1640A	probably benign	Het
Cep250	T	C	2: 155,823,394 (GRCm39)	F1015S	possibly damaging	Het
Cgnl1	G	T	9: 71,537,957 (GRCm39)		probably null	Het
Csgalnact2	C	T	6: 118,103,197 (GRCm39)	G255E	probably damaging	Het
Ctla2a	C	T	13: 61,083,767 (GRCm39)		probably null	Het
Dip2c	A	T	13: 9,618,441 (GRCm39)	I497F	probably damaging	Het
Eif3f	C	A	7: 108,537,624 (GRCm39)	T179K	probably damaging	Het
Frem2	A	G	3: 53,563,380 (GRCm39)	F376L	probably damaging	Het
Gemin4	A	T	11: 76,102,991 (GRCm39)	F590Y	probably damaging	Het
Gemin5	C	A	11: 58,046,009 (GRCm39)	C433F	possibly damaging	Het
Gm7694	C	T	1: 170,130,075 (GRCm39)		probably null	Het
Gpr158	G	A	2: 21,373,331 (GRCm39)	G89R	probably damaging	Het
Herc1	C	T	9: 66,415,475 (GRCm39)	P4817S	probably damaging	Het
Hs6st3	T	C	14: 119,375,852 (GRCm39)	L9P	possibly damaging	Het
Igdcc3	TGCCGCCGCCGCCGCCGCCGC	TGCCGCCGCCGCCGCCGC	9: 65,048,770 (GRCm39)		probably benign	Het
Il1rap	A	C	16: 26,498,974 (GRCm39)	I158L	probably benign	Het
Itpr2	A	G	6: 146,277,649 (GRCm39)	S640P	probably damaging	Het
Metrn	A	G	17: 26,014,211 (GRCm39)	V205A	probably damaging	Het
Mfhas1	C	A	8: 36,056,636 (GRCm39)	D370E	probably damaging	Het
Mn1	T	C	5: 111,568,402 (GRCm39)	S791P	possibly damaging	Het
Mtmr3	A	G	11: 4,437,679 (GRCm39)	V925A	possibly damaging	Het
Neil1	T	C	9: 57,051,485 (GRCm39)	T278A	probably damaging	Het
Nol8	A	G	13: 49,815,802 (GRCm39)	N619D	possibly damaging	Het
Nup214	T	C	2: 31,900,308 (GRCm39)	L879P	probably damaging	Het
Or2l5	A	G	16: 19,334,086 (GRCm39)	I100T	probably benign	Het
Or7a37	T	C	10: 78,806,017 (GRCm39)	F178S	probably damaging	Het
Or9k2	T	C	10: 129,998,661 (GRCm39)	D178G	possibly damaging	Het
Plxna1	C	T	6: 89,311,664 (GRCm39)	R947Q	possibly damaging	Het
Prdm16	A	G	4: 154,613,161 (GRCm39)	S89P	probably damaging	Het
Reln	A	C	5: 22,311,081 (GRCm39)	S277R	probably null	Het
Sel1l	A	T	12: 91,776,754 (GRCm39)	I746N	possibly damaging	Het
Slc2a8	C	T	2: 32,866,040 (GRCm39)	D291N	probably benign	Het
Slc7a5	T	C	8: 122,615,121 (GRCm39)	N242S	probably benign	Het
Smco3	T	C	6: 136,808,763 (GRCm39)	N37S	probably damaging	Het
Sult1c2	T	A	17: 54,280,990 (GRCm39)	K38*	probably null	Het
Tfap2b	T	C	1: 19,289,445 (GRCm39)	M190T	probably benign	Het
Tnpo2	T	A	8: 85,778,523 (GRCm39)	Y623*	probably null	Het
Tomm70a	G	T	16: 56,942,202 (GRCm39)		probably benign	Het
Zbtb10	A	G	3: 9,329,623 (GRCm39)	Y327C	probably 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
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'- GTCTGTGCATGGCAGGATAG -3'
(R):5'- TCTTGGCTCTGTCCCCAAAG -3'

Sequencing Primer
(F):5'- CATGGCAGGATAGGGCTGTG -3'
(R):5'- AGCCCTGCAACTTTGGAC -3'

Posted On

2017-03-01