Mutagenetix > Incidental Mutations

Incidental Mutation 'R6782:Slc12a7'

531483

Institutional Source

Beutler Lab

Gene Symbol

Slc12a7

Ensembl Gene

ENSMUSG00000017756

Gene Name

solute carrier family 12, member 7

Synonyms

Kcc4

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6782 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

73733094-73816754 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 73798969 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 592 (V592D)

Ref Sequence

ENSEMBL: ENSMUSP00000017900 (fasta)

Gene Model

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

AlphaFold

Q9WVL3

Predicted Effect

probably damaging
Transcript: ENSMUST00000017900
AA Change: V592D

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000017900
Gene: ENSMUSG00000017756
AA Change: V592D

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.4%
20x: 95.7%

Validation Efficiency

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	C	T	7: 120,248,085	A724V	probably damaging	Het
Abcc3	A	T	11: 94,358,950	F1055L	probably damaging	Het
Akt3	A	T	1: 177,050,190	Y337*	probably null	Het
Ankrd17	T	C	5: 90,254,738	K1488R	possibly damaging	Het
Ano1	G	A	7: 144,621,687	T498I	probably damaging	Het
Arhgap42	T	A	9: 9,115,720	K118N	probably damaging	Het
Arl5b	A	G	2: 15,073,182	E106G	probably damaging	Het
Atp5g3	C	T	2: 73,909,328	R56Q	probably benign	Het
Bbx	T	C	16: 50,200,565	R749G	probably benign	Het
Cacna1g	A	G	11: 94,459,550	S490P	probably damaging	Het
Ccdc63	A	T	5: 122,111,014	Y417*	probably null	Het
Cep162	A	T	9: 87,211,684	N880K	probably benign	Het
Chd2	G	A	7: 73,475,379	Q77*	probably null	Het
Cntrl	T	G	2: 35,170,646	M1397R	possibly damaging	Het
Dcaf7	A	G	11: 106,054,755	Y310C	probably damaging	Het
Dnah5	T	A	15: 28,449,156	S4235T	possibly damaging	Het
Dot1l	C	T	10: 80,789,390	P1157L	probably damaging	Het
Esco2	T	C	14: 65,820,016	T577A	probably benign	Het
Foxp1	T	C	6: 98,930,145	D624G	probably damaging	Het
Gfi1	A	T	5: 107,725,953		probably null	Het
Gm10985	TTCTCTCTCTCTCTCTCT	TTCTCTCTCTCTCTCT	3: 53,845,205		probably null	Het
Gm5113	G	A	7: 30,178,753	V89I	probably benign	Het
Gtf3c2	A	C	5: 31,169,836	L382R	probably benign	Het
Hhip	T	C	8: 80,051,604	N99S	probably damaging	Het
Hist1h3b	T	C	13: 23,752,410	S11P	probably benign	Het
Htr5b	T	C	1: 121,510,498	I335V	probably benign	Het
Ifi206	A	G	1: 173,481,357	S358P	unknown	Het
Loxhd1	T	A	18: 77,431,177	V1893D	probably damaging	Het
Mical2	A	G	7: 112,346,761	R11G	probably damaging	Het
Mrc1	T	C	2: 14,261,337		probably null	Het
Npr1	T	C	3: 90,456,253	N821S	probably benign	Het
Olfr1279	A	G	2: 111,306,745	D180G	probably damaging	Het
Olfr487	T	C	7: 108,212,463	D22G	probably benign	Het
Olfr495	T	G	7: 108,395,537	M139R	probably damaging	Het
Olfr628	A	G	7: 103,732,342	T139A	possibly damaging	Het
Pi4ka	T	A	16: 17,325,988	D739V	probably damaging	Het
Pi4ka	A	G	16: 17,376,982	L184P	possibly damaging	Het
Ptprd	T	C	4: 76,325,140		probably null	Het
Ralgapb	G	A	2: 158,436,566	G5R	probably damaging	Het
Ric8b	T	C	10: 84,947,527	V83A	probably damaging	Het
Sdc2	C	A	15: 33,028,135	T133K	probably damaging	Het
Sorcs1	G	T	19: 50,176,122	Y990*	probably null	Het
Spata13	G	T	14: 60,691,463	G157W	probably damaging	Het
Tada1	A	G	1: 166,389,972	N226S	probably benign	Het
Tenm3	A	G	8: 48,646,256		probably null	Het
Tll1	A	G	8: 64,071,281	V457A	probably benign	Het
Tmem232	T	C	17: 65,500,124	K25E	possibly damaging	Het
Tnrc18	T	C	5: 142,787,308	S406G	unknown	Het
Ush2a	A	G	1: 188,356,834	M329V	probably benign	Het
Vmn2r107	T	C	17: 20,356,879	S380P	probably damaging	Het
Vmn2r73	A	G	7: 85,870,355	M465T	probably benign	Het
Wwc2	A	G	8: 47,900,791	Y103H	possibly damaging	Het
Zfp217	T	C	2: 170,116,258	D463G	probably damaging	Het
Zfp345	T	C	2: 150,473,354	S88G	probably damaging	Het
Zfp975	A	C	7: 42,662,030	N386K	probably benign	Het

Other mutations in Slc12a7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00763:Slc12a7	APN	13	73794082	missense	possibly damaging	0.77
IGL01086:Slc12a7	APN	13	73814843	missense	probably damaging	1.00
IGL01344:Slc12a7	APN	13	73792737	missense	probably damaging	1.00
IGL01739:Slc12a7	APN	13	73799614	missense	probably benign	0.00
IGL02039:Slc12a7	APN	13	73809094	critical splice donor site	probably null
IGL02213:Slc12a7	APN	13	73797703	critical splice donor site	probably null
IGL02285:Slc12a7	APN	13	73795595	unclassified	probably benign
IGL02422:Slc12a7	APN	13	73806161	missense	probably benign	0.18
IGL02423:Slc12a7	APN	13	73763763	utr 5 prime	probably benign
IGL02596:Slc12a7	APN	13	73785123	missense	probably benign	0.01
IGL02794:Slc12a7	APN	13	73809087	missense	possibly damaging	0.68
IGL02813:Slc12a7	APN	13	73813676	unclassified	probably benign
IGL02868:Slc12a7	APN	13	73806388	missense	probably benign
R0828:Slc12a7	UTSW	13	73788652	missense	probably benign	0.03
R1440:Slc12a7	UTSW	13	73801008	missense	probably damaging	1.00
R1659:Slc12a7	UTSW	13	73790671	missense	probably damaging	1.00
R1669:Slc12a7	UTSW	13	73795113	missense	probably benign	0.00
R2111:Slc12a7	UTSW	13	73785155	nonsense	probably null
R3023:Slc12a7	UTSW	13	73800422	missense	probably benign	0.07
R3612:Slc12a7	UTSW	13	73809923	missense	probably benign	0.30
R4210:Slc12a7	UTSW	13	73814843	missense	probably damaging	1.00
R4353:Slc12a7	UTSW	13	73790734	missense	possibly damaging	0.63
R4761:Slc12a7	UTSW	13	73813589	missense	probably benign	0.06
R4801:Slc12a7	UTSW	13	73763892	critical splice donor site	probably null
R4802:Slc12a7	UTSW	13	73763892	critical splice donor site	probably null
R5002:Slc12a7	UTSW	13	73763777	missense	possibly damaging	0.66
R5128:Slc12a7	UTSW	13	73805433	missense	probably benign	0.03
R5594:Slc12a7	UTSW	13	73785139	missense	probably benign
R5760:Slc12a7	UTSW	13	73813622	missense	probably damaging	1.00
R5854:Slc12a7	UTSW	13	73793940	missense	probably benign	0.03
R6233:Slc12a7	UTSW	13	73805471	missense	possibly damaging	0.63
R6693:Slc12a7	UTSW	13	73797537	missense	probably benign	0.00
R7169:Slc12a7	UTSW	13	73784560	missense	probably benign	0.30
R7225:Slc12a7	UTSW	13	73763962	intron	probably benign
R7458:Slc12a7	UTSW	13	73785069	missense	probably damaging	1.00
R7534:Slc12a7	UTSW	13	73764068	intron	probably benign
R7565:Slc12a7	UTSW	13	73790772	missense	possibly damaging	0.58
R7660:Slc12a7	UTSW	13	73806089	missense	probably benign
R7737:Slc12a7	UTSW	13	73788677	missense	probably benign	0.01
R7783:Slc12a7	UTSW	13	73805469	missense	probably benign	0.44
R7875:Slc12a7	UTSW	13	73788604	missense	possibly damaging	0.94
R8017:Slc12a7	UTSW	13	73799720	missense	probably damaging	1.00
R8019:Slc12a7	UTSW	13	73799720	missense	probably damaging	1.00
R8281:Slc12a7	UTSW	13	73790677	missense	probably damaging	1.00
R8342:Slc12a7	UTSW	13	73785162	missense	probably benign
R8747:Slc12a7	UTSW	13	73785122	missense	probably benign	0.30
R8920:Slc12a7	UTSW	13	73798449	missense	probably damaging	1.00
R9292:Slc12a7	UTSW	13	73784588	missense	possibly damaging	0.46
R9381:Slc12a7	UTSW	13	73800944	missense	probably benign	0.00
R9400:Slc12a7	UTSW	13	73784570	missense	probably benign	0.00
X0023:Slc12a7	UTSW	13	73788608	missense	possibly damaging	0.94
X0028:Slc12a7	UTSW	13	73798541	splice site	probably null
X0065:Slc12a7	UTSW	13	73800945	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- GCATGCGACTTATTCTTAGGGTC -3'
(R):5'- TGGCCTCCTAGACTTCACTG -3'

Sequencing Primer
(F):5'- TCCCTCAGCTGCTGTGTAGAG -3'
(R):5'- TGGGTCTCCTTCCACCAAAACAG -3'

Posted On

2018-08-29