Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03048:Ttyh2'

391827

Institutional Source

Beutler Lab

Gene Symbol

Ttyh2

Ensembl Gene

ENSMUSG00000034714

Gene Name

tweety family member 2

Synonyms

1110001A03Rik

Accession Numbers

Essential gene?

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

Stock #

IGL03048 (G1)

Quality Score

143

Status

Validated

Chromosome

Chromosomal Location

114566294-114611810 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 114587521 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 174 (M174K)

Ref Sequence

ENSEMBL: ENSMUSP00000037821 (fasta)

Gene Model

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

AlphaFold

Q3TH73

Predicted Effect

probably benign
Transcript: ENSMUST00000045779
AA Change: M174K

PolyPhen 2 Score 0.380 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000037821
Gene: ENSMUSG00000034714
AA Change: M174K

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 0.0%
3x: 0.0%
10x: 0.0%
20x: 0.0%

Validation Efficiency

100% (40/40)

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts13	T	C	2: 26,868,711 (GRCm39)		probably null	Het
Anapc4	C	T	5: 52,997,075 (GRCm39)	T116I	probably benign	Het
Arhgap45	C	T	10: 79,852,851 (GRCm39)	R14C	probably damaging	Het
Bysl	T	C	17: 47,913,560 (GRCm39)		probably null	Het
Ccdc166	T	A	15: 75,854,050 (GRCm39)	N10I	possibly damaging	Het
Chd1l	T	C	3: 97,505,079 (GRCm39)	S163G	probably benign	Het
Col6a3	A	G	1: 90,737,970 (GRCm39)	V576A	possibly damaging	Het
Cpped1	T	C	16: 11,646,339 (GRCm39)	T162A	probably benign	Het
Dcbld1	A	T	10: 52,180,722 (GRCm39)	I200F	probably damaging	Het
Dock6	T	C	9: 21,720,866 (GRCm39)	E1713G	probably damaging	Het
Eif4a3l1	A	T	6: 136,306,198 (GRCm39)	T220S	probably damaging	Het
Evx1	T	C	6: 52,292,739 (GRCm39)	L130P	probably benign	Het
Fam168a	A	G	7: 100,484,545 (GRCm39)	T228A	probably damaging	Het
Fcna	G	C	2: 25,520,693 (GRCm39)		probably benign	Het
Firrm	G	A	1: 163,792,094 (GRCm39)	A608V	probably benign	Het
Foxp4	A	T	17: 48,191,765 (GRCm39)	M124K	unknown	Het
Gabrr3	A	G	16: 59,250,493 (GRCm39)	H164R	probably benign	Het
Gapdhrt	T	A	14: 11,281,873 (GRCm38)	I21F	probably benign	Het
Greb1	C	T	12: 16,783,332 (GRCm39)	C134Y	probably damaging	Het
Hddc2	G	A	10: 31,192,332 (GRCm39)	V79I	possibly damaging	Het
Lbr	T	C	1: 181,666,109 (GRCm39)		probably benign	Het
Mamdc4	C	T	2: 25,459,084 (GRCm39)	R229K	possibly damaging	Het
Mtor	T	C	4: 148,630,847 (GRCm39)		probably benign	Het
Ncoa1	T	C	12: 4,317,922 (GRCm39)	R1137G	probably damaging	Het
Nlrp4d	T	C	7: 10,092,881 (GRCm39)		noncoding transcript	Het
Oasl1	T	A	5: 115,075,400 (GRCm39)	S487T	possibly damaging	Het
Oprm1	T	C	10: 6,779,064 (GRCm39)	I91T	probably damaging	Het
Or11j4	G	T	14: 50,630,245 (GRCm39)	V11L	possibly damaging	Het
Or1e26	G	C	11: 73,479,831 (GRCm39)	H244Q	possibly damaging	Het
Or8g33	A	G	9: 39,338,065 (GRCm39)	F101L	probably benign	Het
Pdzk1ip1	T	A	4: 114,950,181 (GRCm39)	D147E	probably benign	Het
Per1	A	G	11: 68,995,552 (GRCm39)	K711E	probably damaging	Het
Rab3gap1	A	G	1: 127,865,214 (GRCm39)	N734S	probably damaging	Het
Rapgefl1	T	C	11: 98,727,990 (GRCm39)	L4P	possibly damaging	Het
Sgk2	A	G	2: 162,837,680 (GRCm39)	Y101C	probably damaging	Het
Tmem129	A	G	5: 33,812,811 (GRCm39)	V179A	possibly damaging	Het
Ttn	T	C	2: 76,719,259 (GRCm39)		probably benign	Het
Vmn2r13	G	A	5: 109,304,151 (GRCm39)	A760V	probably damaging	Het
Vmn2r82	A	T	10: 79,232,460 (GRCm39)	I820F	probably damaging	Het
Zswim4	T	C	8: 84,938,604 (GRCm39)	M1093V	possibly damaging	Het

Other mutations in Ttyh2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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'- CAGCTGGCCAATTACCACTTC -3'
(R):5'- TCACTGTCCTAGGAGGTTACAC -3'

Sequencing Primer
(F):5'- CTTCCTCCTGAGACTTTCCAGGG -3'
(R):5'- CTGTCCTAGGAGGTTACACAGTGAG -3'

Posted On

2016-06-07