Mutagenetix > Incidental Mutation

Incidental Mutation 'R2111:Slc12a7'

232588

Institutional Source

Beutler Lab

Gene Symbol

Slc12a7

Ensembl Gene

ENSMUSG00000017756

Gene Name

solute carrier family 12, member 7

Synonyms

Kcc4

MMRRC Submission

040115-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2111 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

73881213-73964873 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 73933274 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 111 (R111*)

Ref Sequence

ENSEMBL: ENSMUSP00000017900 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000017900] [ENSMUST00000220535]

AlphaFold

Q9WVL3

Predicted Effect

probably null
Transcript: ENSMUST00000017900
AA Change: R111*

SMART Domains

Protein: ENSMUSP00000017900
Gene: ENSMUSG00000017756
AA Change: R111*

Domain	Start	End	E-Value	Type
low complexity region	11	27	N/A	INTRINSIC
low complexity region	99	113	N/A	INTRINSIC
Pfam:AA_permease	123	308	1e-22	PFAM
low complexity region	390	407	N/A	INTRINSIC
Pfam:AA_permease	410	696	1.5e-40	PFAM
Pfam:SLC12	708	834	4.6e-18	PFAM
Pfam:SLC12	818	1083	2.3e-32	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220522

Predicted Effect

probably benign
Transcript: ENSMUST00000220535

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221196

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222253

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222742

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

100% (86/86)

MGI Phenotype

PHENOTYPE: Hearing is severely impaired in homozygous mutant mice, which also exhibit renal tubular acidosis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330161L09Rik	T	C	12: 103,373,848 (GRCm39)		probably benign	Het
Abca2	A	T	2: 25,327,517 (GRCm39)	I669F	possibly damaging	Het
Adam9	C	T	8: 25,472,142 (GRCm39)		probably benign	Het
Adprhl1	A	G	8: 13,298,694 (GRCm39)	Y79H	probably damaging	Het
Akp3	A	T	1: 87,054,607 (GRCm39)		probably null	Het
Alpk2	T	C	18: 65,482,845 (GRCm39)	S388G	probably benign	Het
Amph	G	A	13: 19,300,436 (GRCm39)		probably benign	Het
Arr3	T	A	X: 99,658,247 (GRCm39)	F269L	possibly damaging	Het
Atp2a2	A	G	5: 122,597,609 (GRCm39)	F808S	probably damaging	Het
Baz1a	T	A	12: 54,958,170 (GRCm39)	N1027I	probably damaging	Het
C2cd4c	G	T	10: 79,448,255 (GRCm39)	H297Q	probably damaging	Het
Calr3	T	A	8: 73,181,112 (GRCm39)	D160V	probably damaging	Het
Cdc42ep1	C	T	15: 78,731,692 (GRCm39)	R46C	probably damaging	Het
Cdh23	G	T	10: 60,141,362 (GRCm39)	F3127L	probably damaging	Het
Cfhr4	T	A	1: 139,702,417 (GRCm39)		probably benign	Het
Cps1	T	A	1: 67,216,139 (GRCm39)	D821E	probably benign	Het
Cyp2e1	C	A	7: 140,353,547 (GRCm39)	T328K	probably damaging	Het
Dcp1a	T	C	14: 30,241,327 (GRCm39)	V379A	probably benign	Het
Dst	T	C	1: 34,208,259 (GRCm39)	S737P	probably damaging	Het
Dtx2	C	T	5: 136,059,431 (GRCm39)	S493F	probably damaging	Het
Eci2	A	G	13: 35,174,699 (GRCm39)		probably null	Het
Ercc6l2	A	G	13: 63,982,563 (GRCm39)	T126A	probably damaging	Het
Fgf6	T	C	6: 126,992,723 (GRCm39)	S59P	probably damaging	Het
Fmnl2	A	G	2: 52,995,549 (GRCm39)	E424G	probably damaging	Het
Gapvd1	G	T	2: 34,574,329 (GRCm39)	A1256D	probably benign	Het
Gcfc2	C	A	6: 81,900,759 (GRCm39)	D24E	probably benign	Het
Gigyf2	A	G	1: 87,368,452 (GRCm39)	H1044R	probably damaging	Het
Gk2	T	C	5: 97,604,164 (GRCm39)	I225V	probably benign	Het
Gm3944	C	A	12: 18,903,895 (GRCm39)	S8*	probably null	Het
Gnl3l	A	G	X: 149,780,290 (GRCm39)	S217P	probably damaging	Het
Gpr156	A	G	16: 37,799,113 (GRCm39)	D109G	probably benign	Het
Hoxd1	A	T	2: 74,593,710 (GRCm39)	T89S	probably benign	Het
Ift172	G	A	5: 31,443,423 (GRCm39)	T112M	probably benign	Het
Igkv1-115	C	A	6: 68,138,613 (GRCm39)	S72*	probably null	Het
Ildr1	A	G	16: 36,542,341 (GRCm39)	E247G	probably damaging	Het
Insr	A	G	8: 3,219,748 (GRCm39)	S925P	probably benign	Het
Itpr1	T	G	6: 108,355,270 (GRCm39)		probably benign	Het
Khdrbs3	C	T	15: 68,896,673 (GRCm39)	T111I	probably benign	Het
Mageb3	A	G	2: 121,785,306 (GRCm39)		probably null	Het
Mcf2l	A	T	8: 13,051,867 (GRCm39)	K433N	probably damaging	Het
Mdn1	A	G	4: 32,700,409 (GRCm39)	E1456G	probably damaging	Het
Mta1	C	T	12: 113,095,248 (GRCm39)	T467I	probably damaging	Het
Mtr	A	T	13: 12,259,487 (GRCm39)	I196N	possibly damaging	Het
Mtus1	G	T	8: 41,475,608 (GRCm39)	P819T	probably damaging	Het
Myh1	G	A	11: 67,105,446 (GRCm39)	D1079N	possibly damaging	Het
Nav1	C	T	1: 135,376,742 (GRCm39)	R1694Q	probably damaging	Het
Neb	A	G	2: 52,174,275 (GRCm39)	I1528T	probably benign	Het
Nek1	T	A	8: 61,577,360 (GRCm39)		probably null	Het
Nes	A	G	3: 87,884,618 (GRCm39)	E915G	probably benign	Het
Nlrp4f	T	C	13: 65,347,167 (GRCm39)	I30M	probably benign	Het
Nup153	A	G	13: 46,837,404 (GRCm39)	S1273P	probably benign	Het
Nup155	A	G	15: 8,150,951 (GRCm39)	I334V	probably benign	Het
Or10j2	A	T	1: 173,097,879 (GRCm39)	M46L	probably benign	Het
Or1e1f	A	G	11: 73,855,740 (GRCm39)	Y102C	probably damaging	Het
Or5b3	G	A	19: 13,388,307 (GRCm39)	A125T	probably damaging	Het
Or5d41	A	G	2: 88,054,818 (GRCm39)	V186A	possibly damaging	Het
Or6d13	T	C	6: 116,517,611 (GRCm39)	Y66H	possibly damaging	Het
Or8b46	T	A	9: 38,450,576 (GRCm39)	N128K	probably benign	Het
Or8k38	G	T	2: 86,488,781 (GRCm39)	T7K	probably damaging	Het
Parn	G	A	16: 13,420,933 (GRCm39)	S473L	probably damaging	Het
Pcnt	T	C	10: 76,256,360 (GRCm39)	K627E	probably damaging	Het
Pja2	T	A	17: 64,597,031 (GRCm39)	D553V	probably damaging	Het
Prune2	T	C	19: 17,185,602 (GRCm39)	F3004L	probably damaging	Het
Rasgrp3	T	C	17: 75,807,753 (GRCm39)		probably null	Het
Rdh13	A	G	7: 4,448,482 (GRCm39)	V10A	probably benign	Het
Rimbp2	T	C	5: 128,850,565 (GRCm39)	Y906C	probably damaging	Het
Ripor1	T	C	8: 106,341,344 (GRCm39)	F59S	probably damaging	Het
Rnf185	T	C	11: 3,382,393 (GRCm39)		probably benign	Het
Runx3	T	C	4: 134,882,627 (GRCm39)	V107A	probably damaging	Het
Scn3b	T	C	9: 40,193,741 (GRCm39)	V156A	probably benign	Het
Serpina3a	G	A	12: 104,082,481 (GRCm39)	A85T	probably damaging	Het
Slc5a5	A	T	8: 71,342,395 (GRCm39)		probably null	Het
Snx13	A	T	12: 35,188,084 (GRCm39)	L787F	probably damaging	Het
Spef2	A	T	15: 9,589,659 (GRCm39)	M1535K	probably damaging	Het
Sphkap	T	G	1: 83,253,602 (GRCm39)	K1382N	probably benign	Het
Tagap1	A	G	17: 7,224,259 (GRCm39)	S146P	probably benign	Het
Tagln3	A	G	16: 45,531,957 (GRCm39)	Y192H	probably damaging	Het
Tbc1d15	A	C	10: 115,076,819 (GRCm39)	S22A	possibly damaging	Het
Tbc1d31	A	G	15: 57,796,040 (GRCm39)	E211G	probably benign	Het
Tmod3	A	G	9: 75,416,645 (GRCm39)	V229A	probably damaging	Het
Ubr2	A	G	17: 47,274,071 (GRCm39)		probably null	Het
Ugt2b36	T	C	5: 87,240,100 (GRCm39)	E95G	probably benign	Het
Unc45b	G	A	11: 82,802,515 (GRCm39)	A4T	probably benign	Het
Usp40	A	G	1: 87,877,936 (GRCm39)	I1117T	probably benign	Het
Vcan	T	A	13: 89,841,422 (GRCm39)	D414V	probably damaging	Het
Xrn1	C	A	9: 95,921,885 (GRCm39)	H1433N	probably benign	Het
Zfp353-ps	T	A	8: 42,536,005 (GRCm39)		noncoding transcript	Het
Zfp74	G	A	7: 29,634,443 (GRCm39)	Q422*	probably null	Het
Zmym3	A	T	X: 100,450,993 (GRCm39)	V1208D	probably damaging	Het

Other mutations in Slc12a7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00763:Slc12a7	APN	13	73,942,201 (GRCm39)	missense	possibly damaging	0.77
IGL01086:Slc12a7	APN	13	73,962,962 (GRCm39)	missense	probably damaging	1.00
IGL01344:Slc12a7	APN	13	73,940,856 (GRCm39)	missense	probably damaging	1.00
IGL01739:Slc12a7	APN	13	73,947,733 (GRCm39)	missense	probably benign	0.00
IGL02039:Slc12a7	APN	13	73,957,213 (GRCm39)	critical splice donor site	probably null
IGL02213:Slc12a7	APN	13	73,945,822 (GRCm39)	critical splice donor site	probably null
IGL02285:Slc12a7	APN	13	73,943,714 (GRCm39)	unclassified	probably benign
IGL02422:Slc12a7	APN	13	73,954,280 (GRCm39)	missense	probably benign	0.18
IGL02423:Slc12a7	APN	13	73,911,882 (GRCm39)	utr 5 prime	probably benign
IGL02596:Slc12a7	APN	13	73,933,242 (GRCm39)	missense	probably benign	0.01
IGL02794:Slc12a7	APN	13	73,957,206 (GRCm39)	missense	possibly damaging	0.68
IGL02813:Slc12a7	APN	13	73,961,795 (GRCm39)	unclassified	probably benign
IGL02868:Slc12a7	APN	13	73,954,507 (GRCm39)	missense	probably benign
R0828:Slc12a7	UTSW	13	73,936,771 (GRCm39)	missense	probably benign	0.03
R1440:Slc12a7	UTSW	13	73,949,127 (GRCm39)	missense	probably damaging	1.00
R1659:Slc12a7	UTSW	13	73,938,790 (GRCm39)	missense	probably damaging	1.00
R1669:Slc12a7	UTSW	13	73,943,232 (GRCm39)	missense	probably benign	0.00
R3023:Slc12a7	UTSW	13	73,948,541 (GRCm39)	missense	probably benign	0.07
R3612:Slc12a7	UTSW	13	73,958,042 (GRCm39)	missense	probably benign	0.30
R4210:Slc12a7	UTSW	13	73,962,962 (GRCm39)	missense	probably damaging	1.00
R4353:Slc12a7	UTSW	13	73,938,853 (GRCm39)	missense	possibly damaging	0.63
R4761:Slc12a7	UTSW	13	73,961,708 (GRCm39)	missense	probably benign	0.06
R4801:Slc12a7	UTSW	13	73,912,011 (GRCm39)	critical splice donor site	probably null
R4802:Slc12a7	UTSW	13	73,912,011 (GRCm39)	critical splice donor site	probably null
R5002:Slc12a7	UTSW	13	73,911,896 (GRCm39)	missense	possibly damaging	0.66
R5128:Slc12a7	UTSW	13	73,953,552 (GRCm39)	missense	probably benign	0.03
R5594:Slc12a7	UTSW	13	73,933,258 (GRCm39)	missense	probably benign
R5760:Slc12a7	UTSW	13	73,961,741 (GRCm39)	missense	probably damaging	1.00
R5854:Slc12a7	UTSW	13	73,942,059 (GRCm39)	missense	probably benign	0.03
R6233:Slc12a7	UTSW	13	73,953,590 (GRCm39)	missense	possibly damaging	0.63
R6693:Slc12a7	UTSW	13	73,945,656 (GRCm39)	missense	probably benign	0.00
R6782:Slc12a7	UTSW	13	73,947,088 (GRCm39)	missense	probably damaging	0.99
R7169:Slc12a7	UTSW	13	73,932,679 (GRCm39)	missense	probably benign	0.30
R7225:Slc12a7	UTSW	13	73,912,081 (GRCm39)	intron	probably benign
R7458:Slc12a7	UTSW	13	73,933,188 (GRCm39)	missense	probably damaging	1.00
R7534:Slc12a7	UTSW	13	73,912,187 (GRCm39)	intron	probably benign
R7565:Slc12a7	UTSW	13	73,938,891 (GRCm39)	missense	possibly damaging	0.58
R7660:Slc12a7	UTSW	13	73,954,208 (GRCm39)	missense	probably benign
R7737:Slc12a7	UTSW	13	73,936,796 (GRCm39)	missense	probably benign	0.01
R7783:Slc12a7	UTSW	13	73,953,588 (GRCm39)	missense	probably benign	0.44
R7875:Slc12a7	UTSW	13	73,936,723 (GRCm39)	missense	possibly damaging	0.94
R8017:Slc12a7	UTSW	13	73,947,839 (GRCm39)	missense	probably damaging	1.00
R8019:Slc12a7	UTSW	13	73,947,839 (GRCm39)	missense	probably damaging	1.00
R8281:Slc12a7	UTSW	13	73,938,796 (GRCm39)	missense	probably damaging	1.00
R8342:Slc12a7	UTSW	13	73,933,281 (GRCm39)	missense	probably benign
R8747:Slc12a7	UTSW	13	73,933,241 (GRCm39)	missense	probably benign	0.30
R8920:Slc12a7	UTSW	13	73,946,568 (GRCm39)	missense	probably damaging	1.00
R9069:Slc12a7	UTSW	13	73,954,089 (GRCm39)	intron	probably benign
R9292:Slc12a7	UTSW	13	73,932,707 (GRCm39)	missense	possibly damaging	0.46
R9381:Slc12a7	UTSW	13	73,949,063 (GRCm39)	missense	probably benign	0.00
R9400:Slc12a7	UTSW	13	73,932,689 (GRCm39)	missense	probably benign	0.00
R9521:Slc12a7	UTSW	13	73,947,087 (GRCm39)	missense	probably benign	0.38
R9687:Slc12a7	UTSW	13	73,938,796 (GRCm39)	missense	probably damaging	1.00
X0023:Slc12a7	UTSW	13	73,936,727 (GRCm39)	missense	possibly damaging	0.94
X0028:Slc12a7	UTSW	13	73,946,660 (GRCm39)	splice site	probably null
X0065:Slc12a7	UTSW	13	73,949,064 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- GCTCTTGAGCTCTACACAGC -3'
(R):5'- TTGTCCCTTCCCAGAAGCTG -3'

Sequencing Primer
(F):5'- TTGAGCTCTACACAGCCCTGG -3'
(R):5'- CCAGAAGCTGGTGGTGTC -3'

Posted On

2014-09-18