Mutagenetix > Incidental Mutation

Incidental Mutation 'R1433:Ttyh2'

159328

Institutional Source

Beutler Lab

Gene Symbol

Ttyh2

Ensembl Gene

ENSMUSG00000034714

Gene Name

tweety family member 2

Synonyms

1110001A03Rik

MMRRC Submission

039488-MU

Accession Numbers

Essential gene?

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

Stock #

R1433 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

114566294-114611810 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 114601005 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 418 (I418N)

Ref Sequence

ENSEMBL: ENSMUSP00000037821 (fasta)

Gene Model

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

AlphaFold

Q3TH73

Predicted Effect

probably benign
Transcript: ENSMUST00000045779
AA Change: I418N

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000037821
Gene: ENSMUSG00000034714
AA Change: I418N

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

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 94.8%
20x: 87.9%

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp1	C	T	12: 30,945,934 (GRCm39)	E140K	possibly damaging	Het
Acsm4	T	A	7: 119,293,042 (GRCm39)	D57E	probably damaging	Het
Adamts9	A	G	6: 92,826,271 (GRCm39)		probably null	Het
Aen	T	A	7: 78,557,060 (GRCm39)	Y303N	probably damaging	Het
Alcam	T	C	16: 52,116,115 (GRCm39)		probably null	Het
Apol7b	A	G	15: 77,309,746 (GRCm39)	L17P	probably damaging	Het
Cacna1c	A	T	6: 118,629,754 (GRCm39)	Y1058*	probably null	Het
Camk2d	T	C	3: 126,601,873 (GRCm39)	V354A	probably benign	Het
Carf	T	G	1: 60,164,017 (GRCm39)	M43R	probably damaging	Het
Casp8	T	A	1: 58,863,283 (GRCm39)	F81Y	probably damaging	Het
Cd74	G	A	18: 60,937,064 (GRCm39)	R20H	probably benign	Het
Cers5	A	T	15: 99,643,812 (GRCm39)	Y16*	probably null	Het
Chuk	A	T	19: 44,067,397 (GRCm39)	M586K	probably null	Het
D130043K22Rik	C	A	13: 25,055,324 (GRCm39)	P496Q	probably damaging	Het
Dab2	A	G	15: 6,459,419 (GRCm39)	R311G	probably damaging	Het
Depp1	A	T	6: 116,629,223 (GRCm39)	S189C	possibly damaging	Het
Diaph1	A	T	18: 38,038,187 (GRCm39)	I48N	unknown	Het
Dnajc13	T	C	9: 104,057,320 (GRCm39)	D1560G	probably damaging	Het
Dsg2	T	C	18: 20,715,780 (GRCm39)	S241P	probably damaging	Het
Efcab5	T	C	11: 76,996,204 (GRCm39)	D1119G	probably benign	Het
Efr3a	G	T	15: 65,740,906 (GRCm39)		probably benign	Het
Evc2	A	G	5: 37,550,427 (GRCm39)	K814E	probably damaging	Het
Hic2	A	G	16: 17,076,686 (GRCm39)	D505G	probably benign	Het
Ing1	T	A	8: 11,607,010 (GRCm39)	V34D	probably damaging	Het
Inpp5k	A	G	11: 75,528,317 (GRCm39)	M172V	probably benign	Het
Itgae	T	C	11: 73,006,418 (GRCm39)	V362A	probably damaging	Het
Lama2	T	A	10: 27,063,750 (GRCm39)	R1346S	probably damaging	Het
Lrrc7	T	C	3: 157,882,943 (GRCm39)	N450S	probably damaging	Het
Lrrn3	T	A	12: 41,502,583 (GRCm39)	Y578F	possibly damaging	Het
Maml2	A	T	9: 13,617,797 (GRCm39)	N381I	probably damaging	Het
Mettl15	T	G	2: 108,923,266 (GRCm39)	E385D	probably benign	Het
Mthfr	T	A	4: 148,139,900 (GRCm39)	I623N	possibly damaging	Het
Muc4	A	C	16: 32,574,448 (GRCm39)	N966T	probably benign	Het
Myoc	A	G	1: 162,476,565 (GRCm39)	Y423C	probably damaging	Het
Ncoa2	A	T	1: 13,218,602 (GRCm39)	M1409K	probably benign	Het
Ncor2	T	C	5: 125,187,039 (GRCm39)		probably benign	Het
Numb	T	C	12: 83,844,033 (GRCm39)	E395G	probably damaging	Het
Oas1g	A	G	5: 121,020,012 (GRCm39)	F198S	probably damaging	Het
Or2b28	T	C	13: 21,531,194 (GRCm39)	V32A	probably benign	Het
Or5k17	A	G	16: 58,746,049 (GRCm39)	V295A	probably benign	Het
Prdm13	T	A	4: 21,678,909 (GRCm39)	Y527F	probably damaging	Het
Prr14l	A	G	5: 32,986,177 (GRCm39)	L1106P	probably damaging	Het
Ptbp1	T	A	10: 79,699,107 (GRCm39)	I555N	probably damaging	Het
Ptchd4	A	T	17: 42,814,606 (GRCm39)	T836S	possibly damaging	Het
Rlbp1	T	C	7: 79,033,686 (GRCm39)	D3G	probably benign	Het
Sdk2	T	C	11: 113,685,871 (GRCm39)	E1883G	probably damaging	Het
Serpinc1	A	T	1: 160,820,974 (GRCm39)	K140N	probably damaging	Het
Serpind1	A	T	16: 17,160,249 (GRCm39)	Y382F	probably damaging	Het
Slc28a3	T	C	13: 58,710,920 (GRCm39)	E534G	probably damaging	Het
Slco1a7	A	G	6: 141,711,429 (GRCm39)	M94T	probably benign	Het
Tubgcp4	C	T	2: 121,005,905 (GRCm39)	Q98*	probably null	Het
Ugt2a2	A	G	5: 87,611,965 (GRCm39)	L315P	probably damaging	Het
Vwa1	A	T	4: 155,857,358 (GRCm39)	S147T	probably damaging	Het
Xylt1	T	C	7: 117,191,179 (GRCm39)	V325A	possibly damaging	Het
Zfp335	T	C	2: 164,741,376 (GRCm39)	H685R	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
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'- GTTTGAAGTCAGCCTCCAGTGTCC -3'
(R):5'- GGTAGGTTGTCACCATCTTTGGCTC -3'

Sequencing Primer
(F):5'- CTTGTCCCAAGGAGTCTGTCAG -3'
(R):5'- ATCTTTGGCTCAGTTACTTTTACAGG -3'

Posted On

2014-03-14