Mutagenetix > Incidental Mutation

Incidental Mutation 'R7798:Ttyh3'

600352

Institutional Source

Beutler Lab

Gene Symbol

Ttyh3

Ensembl Gene

ENSMUSG00000036565

Gene Name

tweety family member 3

Synonyms

2900029G13Rik

MMRRC Submission

045648-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.108) question?

Stock #

R7798 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

140606333-140634786 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 140620538 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 233 (R233Q)

Ref Sequence

ENSEMBL: ENSMUSP00000037447 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042661] [ENSMUST00000197452]

AlphaFold

Q6P5F7

Predicted Effect

probably damaging
Transcript: ENSMUST00000042661
AA Change: R233Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000037447
Gene: ENSMUSG00000036565
AA Change: R233Q

Domain	Start	End	E-Value	Type
Pfam:Tweety	25	430	9.4e-183	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000197452
AA Change: R233Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000142655
Gene: ENSMUSG00000036565
AA Change: R233Q

Domain	Start	End	E-Value	Type
Pfam:Tweety	25	430	1.8e-182	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

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. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700088E04Rik	T	A	15: 79,019,932 (GRCm39)	N128I	probably damaging	Het
Abca13	A	G	11: 9,241,664 (GRCm39)	T1176A	probably benign	Het
Abca9	A	G	11: 110,029,005 (GRCm39)	V851A	probably benign	Het
Abcc6	C	A	7: 45,626,277 (GRCm39)	E1494*	probably null	Het
Adamts14	A	T	10: 61,106,952 (GRCm39)	V56E	probably damaging	Het
Adamts15	G	A	9: 30,815,939 (GRCm39)	T639M	probably damaging	Het
Albfm1	T	C	5: 90,745,370 (GRCm39)	S608P	possibly damaging	Het
Arhgap11a	A	C	2: 113,673,680 (GRCm39)	V70G	probably damaging	Het
BC051665	A	T	13: 60,932,249 (GRCm39)	D113E	probably benign	Het
Best1	T	C	19: 9,969,035 (GRCm39)	Y227C	probably damaging	Het
Camk2b	A	G	11: 5,928,399 (GRCm39)	S447P	probably benign	Het
Ccdc88a	C	A	11: 29,427,348 (GRCm39)	Q1018K	probably benign	Het
Cdhr17	T	C	5: 17,061,656 (GRCm39)	F801L	possibly damaging	Het
Cfap74	T	A	4: 155,507,079 (GRCm39)	V180D		Het
Clca3a1	T	A	3: 144,463,723 (GRCm39)	T185S	probably damaging	Het
Clca3b	T	C	3: 144,533,891 (GRCm39)	S495G	probably damaging	Het
Cyb5r2	A	T	7: 107,353,155 (GRCm39)	Y96N	possibly damaging	Het
Cyp21a1	T	C	17: 35,023,295 (GRCm39)	K27E	probably benign	Het
Cyp2ab1	T	C	16: 20,131,166 (GRCm39)	E321G	probably benign	Het
Des	T	C	1: 75,339,003 (GRCm39)	I228T	probably damaging	Het
Dis3l	G	T	9: 64,248,299 (GRCm39)	P39T	probably benign	Het
Disp2	A	C	2: 118,622,360 (GRCm39)	I1031L	probably benign	Het
Ell3	TCTCCTC	TCTC	2: 121,269,937 (GRCm39)		probably benign	Het
Etl4	G	A	2: 20,786,757 (GRCm39)		probably null	Het
Fgf23	A	T	6: 127,050,177 (GRCm39)	D62V	probably damaging	Het
Galnt15	C	T	14: 31,751,862 (GRCm39)	T138I	possibly damaging	Het
Ggt6	A	T	11: 72,326,367 (GRCm39)		probably benign	Het
Gpr180	T	A	14: 118,391,098 (GRCm39)	V209D	probably damaging	Het
Gzma	A	T	13: 113,232,858 (GRCm39)	F78Y	probably benign	Het
Igkv8-30	A	T	6: 70,094,355 (GRCm39)	C19S	probably benign	Het
Il1r1	G	A	1: 40,349,526 (GRCm39)	V361I	probably benign	Het
Intu	T	C	3: 40,646,359 (GRCm39)	V598A	probably damaging	Het
Itpr2	A	G	6: 146,287,513 (GRCm39)	F471L	probably benign	Het
Kntc1	T	A	5: 123,924,357 (GRCm39)	V1081E	probably benign	Het
Kntc1	T	A	5: 123,957,180 (GRCm39)	V2163E	possibly damaging	Het
Macf1	T	C	4: 123,271,893 (GRCm39)	K6552E	probably damaging	Het
Marf1	T	C	16: 13,956,315 (GRCm39)	H842R	probably benign	Het
Mgat4b	A	G	11: 50,116,497 (GRCm39)	T10A	possibly damaging	Het
Muc21	C	G	17: 35,932,146 (GRCm39)	G680A	unknown	Het
Muc5ac	T	C	7: 141,347,778 (GRCm39)		probably null	Het
Nrk	CGCAGCAGCAGCAGCAGCAGC	CGCAGCAGCAGCAGCAGC	X: 137,883,426 (GRCm39)		probably benign	Het
Nsun4	T	G	4: 115,908,371 (GRCm39)	S730R	possibly damaging	Het
Or12e1	A	T	2: 87,022,636 (GRCm39)	I202L	probably benign	Het
Or12k7	A	T	2: 36,959,186 (GRCm39)	S290C	probably damaging	Het
Or1n1	T	C	2: 36,750,348 (GRCm39)	E4G	probably benign	Het
Or4f6	A	G	2: 111,838,617 (GRCm39)	F305L	probably benign	Het
Or4k15	A	T	14: 50,364,895 (GRCm39)	Y287F	probably damaging	Het
Padi3	C	T	4: 140,513,750 (GRCm39)	E653K	probably benign	Het
Pde4a	A	G	9: 21,109,959 (GRCm39)	E280G	possibly damaging	Het
Phactr3	G	A	2: 177,925,703 (GRCm39)	R326H	probably benign	Het
Prob1	G	A	18: 35,786,397 (GRCm39)	P619L	possibly damaging	Het
Ptk2	G	A	15: 73,167,224 (GRCm39)	R368W	probably damaging	Het
Rgs6	A	G	12: 83,116,293 (GRCm39)	T240A	probably benign	Het
Rpa1	A	T	11: 75,203,635 (GRCm39)	Y356N	probably damaging	Het
Rxrb	T	A	17: 34,252,579 (GRCm39)	D165E	probably damaging	Het
Sco1	A	G	11: 66,944,628 (GRCm39)	T84A	possibly damaging	Het
Sepsecs	T	C	5: 52,804,531 (GRCm39)	I380V	probably benign	Het
Sfmbt1	T	A	14: 30,538,759 (GRCm39)	W793R	probably damaging	Het
Slco3a1	A	G	7: 73,968,344 (GRCm39)	S459P	probably benign	Het
Smg1	A	T	7: 117,771,162 (GRCm39)	S1503R	possibly damaging	Het
Sox2	G	A	3: 34,704,791 (GRCm39)	R76H	probably damaging	Het
Spty2d1	G	A	7: 46,645,804 (GRCm39)	S613F	probably damaging	Het
Stab2	A	T	10: 86,793,776 (GRCm39)	Y440N	probably damaging	Het
Syn3	A	G	10: 85,916,117 (GRCm39)	Y290H	probably damaging	Het
Tex15	C	T	8: 34,071,875 (GRCm39)	S2474F	possibly damaging	Het
Tgtp1	A	G	11: 48,878,159 (GRCm39)	F182S	probably benign	Het
Tmcc1	A	T	6: 116,020,539 (GRCm39)	S304R		Het
Tmem130	T	G	5: 144,680,580 (GRCm39)	K275Q	probably damaging	Het
Tmem9	C	A	1: 135,961,927 (GRCm39)	T174K	probably damaging	Het
Tut7	A	T	13: 59,963,389 (GRCm39)	M323K	possibly damaging	Het
Twnk	T	C	19: 44,996,107 (GRCm39)	M180T	probably benign	Het
Ube4a	A	G	9: 44,844,629 (GRCm39)	V874A	probably damaging	Het
Ugt2a3	T	C	5: 87,475,582 (GRCm39)	N350S	probably damaging	Het
Vegfa	C	T	17: 46,342,761 (GRCm39)	G19D	probably damaging	Het
Vmn2r2	C	A	3: 64,041,518 (GRCm39)	C399F	possibly damaging	Het
Vmn2r65	G	T	7: 84,595,530 (GRCm39)	P385T	probably benign	Het
Vmn2r65	A	G	7: 84,596,192 (GRCm39)	F164S	probably damaging	Het

Other mutations in Ttyh3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01285:Ttyh3	APN	5	140,615,167 (GRCm39)	missense	probably damaging	0.99
IGL01324:Ttyh3	APN	5	140,617,268 (GRCm39)	missense	probably benign	0.00
IGL01982:Ttyh3	APN	5	140,621,829 (GRCm39)	splice site	probably benign
IGL02002:Ttyh3	APN	5	140,615,238 (GRCm39)	missense	probably damaging	1.00
IGL02218:Ttyh3	APN	5	140,612,246 (GRCm39)	missense	probably damaging	1.00
IGL02385:Ttyh3	APN	5	140,619,060 (GRCm39)	missense	probably benign	0.03
IGL02510:Ttyh3	APN	5	140,615,219 (GRCm39)	missense	probably damaging	1.00
R0843:Ttyh3	UTSW	5	140,612,201 (GRCm39)	splice site	probably null
R3037:Ttyh3	UTSW	5	140,634,597 (GRCm39)	start gained	probably benign
R3774:Ttyh3	UTSW	5	140,634,489 (GRCm39)	missense	probably damaging	0.99
R4795:Ttyh3	UTSW	5	140,620,541 (GRCm39)	missense	probably damaging	1.00
R4796:Ttyh3	UTSW	5	140,620,541 (GRCm39)	missense	probably damaging	1.00
R4868:Ttyh3	UTSW	5	140,615,221 (GRCm39)	missense	probably damaging	1.00
R5671:Ttyh3	UTSW	5	140,617,307 (GRCm39)	missense	probably benign	0.02
R6107:Ttyh3	UTSW	5	140,619,317 (GRCm39)	critical splice donor site	probably null
R6363:Ttyh3	UTSW	5	140,620,979 (GRCm39)	missense	probably damaging	1.00
R7104:Ttyh3	UTSW	5	140,615,540 (GRCm39)	missense	probably benign	0.00
R7454:Ttyh3	UTSW	5	140,615,180 (GRCm39)	missense	possibly damaging	0.95
R7810:Ttyh3	UTSW	5	140,610,896 (GRCm39)	missense
R8690:Ttyh3	UTSW	5	140,612,945 (GRCm39)	missense	probably benign	0.02
R8690:Ttyh3	UTSW	5	140,612,944 (GRCm39)	missense	probably damaging	0.98
R9162:Ttyh3	UTSW	5	140,621,820 (GRCm39)	missense	possibly damaging	0.91

Predicted Primers

PCR Primer
(F):5'- AGTGGCTCATTTCAGGGAGG -3'
(R):5'- GCTGTCTTCTTCAAGGACTGAC -3'

Sequencing Primer
(F):5'- CTCATTTCAGGGAGGGGAAGGC -3'
(R):5'- CCTGTAATCCAAACACTGGGGAG -3'

Posted On

2019-11-26