Mutagenetix > Incidental Mutations

Incidental Mutation 'R8342:Slc12a7'

644974

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 #

R8342 (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 C at 73785162 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 113 (V113A)

Ref Sequence

ENSEMBL: ENSMUSP00000017900 (fasta)

Gene Model

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

AlphaFold

Q9WVL3

Predicted Effect

probably benign
Transcript: ENSMUST00000017900
AA Change: V113A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000017900
Gene: ENSMUSG00000017756
AA Change: V113A

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

probably benign
Transcript: ENSMUST00000220535

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931423N10Rik	T	A	2: 23,257,005		probably null	Het
Aak1	A	G	6: 86,986,339	D917G	unknown	Het
Adad1	T	C	3: 37,079,901	S322P	probably damaging	Het
Agbl4	C	T	4: 111,119,027	L194F	probably damaging	Het
Ahr	C	T	12: 35,508,272	G250R	probably damaging	Het
AI987944	A	T	7: 41,374,886	I226N	probably benign	Het
Ankar	A	G	1: 72,652,460	V1114A	probably damaging	Het
Ankrd49	C	A	9: 14,781,527	A114S	probably damaging	Het
Arl6	C	T	16: 59,622,439	G140D	unknown	Het
Arrdc3	A	G	13: 80,883,671	S8G	probably benign	Het
Ate1	A	T	7: 130,503,765	V298E	probably benign	Het
Atp6v1b2	A	G	8: 69,101,383	I71V	probably benign	Het
Bin1	A	G	18: 32,413,113	M112V	probably benign	Het
Camk2b	C	T	11: 5,990,383	A152T	probably benign	Het
Cars2	A	C	8: 11,529,706	F251V	probably damaging	Het
Cdkl1	A	T	12: 69,754,178	F229I	probably damaging	Het
Ceacam5	A	T	7: 17,752,246	Y556F	possibly damaging	Het
Chst15	T	C	7: 132,247,886	N442S	probably benign	Het
Ckap5	T	A	2: 91,606,362	D1602E	possibly damaging	Het
Col9a3	A	T	2: 180,603,390	I131F	unknown	Het
Cyp4f15	A	T	17: 32,690,759	D110V	possibly damaging	Het
Dlec1	A	G	9: 119,139,389	I1258V	probably benign	Het
Dpyd	A	G	3: 119,314,803	T832A	possibly damaging	Het
Eno1	A	G	4: 150,245,236	Y189C	probably damaging	Het
Gm12800	A	T	4: 101,910,384	M277L	probably benign	Het
Gnat3	A	G	5: 18,003,840	T181A		Het
Kif1b	T	C	4: 149,222,348	M852V	probably damaging	Het
Klk1b26	A	T	7: 44,016,084	I139F	probably damaging	Het
Loxhd1	G	A	18: 77,405,985	V1547M	possibly damaging	Het
Lrp4	A	G	2: 91,488,445	T876A	probably damaging	Het
Malrd1	G	T	2: 15,633,224	W451L	unknown	Het
March6	A	T	15: 31,494,116	N261K	possibly damaging	Het
Mcpt2	T	C	14: 56,042,793	C50R	probably damaging	Het
Muc16	A	G	9: 18,658,685	V846A	unknown	Het
Muc5b	A	T	7: 141,860,865	D2516V	unknown	Het
Myh15	T	C	16: 49,092,757	L359P	probably benign	Het
Nemp1	G	A	10: 127,693,029	V201I	probably benign	Het
Nr2e1	A	T	10: 42,568,429	L228Q	probably damaging	Het
Nrg1	C	A	8: 31,822,306	V388L	probably benign	Het
Nrg3	T	A	14: 39,012,096	T278S	probably damaging	Het
Numb	T	C	12: 83,808,216	E112G	probably benign	Het
Olfr364-ps1	T	C	2: 37,146,766	S185P	probably damaging	Het
Olfr971	A	C	9: 39,840,316	N294T	probably damaging	Het
Pdlim2	C	A	14: 70,166,114	C283F	probably damaging	Het
Ppm1a	G	A	12: 72,784,135	G145R	probably damaging	Het
Pramef17	T	A	4: 143,994,239	D44V	probably benign	Het
Prune2	C	A	19: 17,125,663	Q2729K	probably benign	Het
Repin1	G	T	6: 48,597,345	E403*	probably null	Het
Scn9a	G	T	2: 66,536,282	T719K	probably benign	Het
Slc23a1	C	T	18: 35,622,535	G436E	probably damaging	Het
Slc37a2	A	T	9: 37,238,214		probably null	Het
Steap1	G	A	5: 5,740,816	S44L	probably benign	Het
Sucnr1	C	T	3: 60,086,734	R228C	probably damaging	Het
Sult3a1	G	A	10: 33,866,521	G48D	probably damaging	Het
Syn3	A	T	10: 86,467,027	V88D	probably damaging	Het
Syne1	T	C	10: 5,108,622	D7297G	probably benign	Het
Tmco5	T	C	2: 116,880,253	I18T	probably damaging	Het
Trpc1	A	G	9: 95,726,548	L230P	probably damaging	Het
Ttn	T	C	2: 76,889,441	N7108S	unknown	Het
Ubr5	A	G	15: 38,024,837	V559A		Het
Ugt1a7c	T	C	1: 88,095,251	V44A	possibly damaging	Het
Vmn2r60	A	T	7: 42,141,070	S494C	possibly damaging	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
R6782:Slc12a7	UTSW	13	73798969	missense	probably damaging	0.99
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
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'- TCTTGAGCTCTACACAGCCC -3'
(R):5'- ACCTTGTCCCTTCCCAGAAG -3'

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

Posted On

2020-09-02