Mutagenetix > Incidental Mutations

Incidental Mutation 'R8747:Slc12a7'

663622

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 #

R8747 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

73733094-73816754 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 73785122 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 100 (V100I)

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: V100I

PolyPhen 2 Score 0.297 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000017900
Gene: ENSMUSG00000017756
AA Change: V100I

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: 98.5%

Validation Efficiency

100% (52/52)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700109H08Rik	A	G	5: 3,582,240	D190G	probably benign	Het
8430408G22Rik	T	A	6: 116,652,161	L155Q	possibly damaging	Het
Abhd11	A	G	5: 135,011,906	I271V	possibly damaging	Het
AI314180	C	T	4: 58,828,632	V934I	probably damaging	Het
Akap6	T	G	12: 53,142,216	S2138A	probably benign	Het
Amn	C	A	12: 111,275,006	P235H	probably damaging	Het
Arf2	A	T	11: 103,969,149	M18L	probably benign	Het
Asic2	A	T	11: 81,152,407	F20Y	possibly damaging	Het
Bok	T	C	1: 93,694,942		probably null	Het
Cachd1	T	A	4: 101,002,848		probably benign	Het
Casp8	A	G	1: 58,844,458	N308S	probably benign	Het
Cavin3	G	T	7: 105,481,947	H71Q	possibly damaging	Het
Ccdc87	A	G	19: 4,841,618	I713V	probably benign	Het
Clcn6	A	T	4: 148,008,897		probably null	Het
Cmas	T	C	6: 142,771,201	I273T	possibly damaging	Het
Ctxn3	A	T	18: 57,477,306	D65V	probably damaging	Het
D130040H23Rik	C	A	8: 69,303,053	N387K	probably benign	Het
Dnah9	T	C	11: 65,927,990	K3174R	possibly damaging	Het
Efcab14	A	G	4: 115,746,596	N157S	probably damaging	Het
Ets1	G	A	9: 32,730,178	G109D	probably damaging	Het
Fbln5	G	A	12: 101,768,495	R173C	probably damaging	Het
Fchsd1	G	A	18: 37,962,982	P525L	probably benign	Het
Gmppa	G	A	1: 75,439,381	V156I	probably damaging	Het
Gtpbp1	A	G	15: 79,719,281	D182G		Het
Ift140	T	A	17: 25,035,835	S430T	probably benign	Het
Kat7	G	C	11: 95,294,566	C161W	probably damaging	Het
Lipk	T	A	19: 34,018,784	M32K	probably damaging	Het
Lum	A	T	10: 97,568,489	D82V	possibly damaging	Het
Macf1	C	A	4: 123,355,151	A7196S	probably damaging	Het
Mroh2b	T	A	15: 4,935,300	S926T	probably damaging	Het
Nbn	G	T	4: 15,981,555	R549I	probably damaging	Het
Nfu1	T	C	6: 87,019,418	I117T	probably damaging	Het
Olfr1355	A	G	10: 78,879,321	T50A	probably benign	Het
Olfr566	T	C	7: 102,856,932	T117A	probably benign	Het
Parp1	T	C	1: 180,594,710	L778P	probably damaging	Het
Pbld2	G	T	10: 63,052,290	V125F	probably benign	Het
Prkag2	A	G	5: 24,880,682		probably null	Het
Prss54	A	G	8: 95,559,723	F241L	probably benign	Het
Rnf121	T	C	7: 102,029,109	D177G	probably damaging	Het
Slc28a1	C	T	7: 81,124,971	L189F	possibly damaging	Het
Slc35a3	T	C	3: 116,694,570	Q16R	probably damaging	Het
Snap91	A	G	9: 86,804,524	F354L	probably damaging	Het
Steap2	A	G	5: 5,673,539	I447T	probably benign	Het
Tagap	T	A	17: 7,928,770	I104N	probably damaging	Het
Tas1r2	A	G	4: 139,660,007	D259G	probably benign	Het
Tgm3	T	C	2: 130,044,532	S558P	probably benign	Het
Tuba3a	A	G	6: 125,281,055	V324A	probably damaging	Het
Vmn1r238	T	G	18: 3,123,232	I61L	possibly damaging	Het
Vmn1r52	A	G	6: 90,179,469	T252A	probably benign	Het
Vmp1	A	G	11: 86,602,059	V308A	probably damaging	Het
Wdfy4	A	C	14: 33,152,654	V159G		Het
Zfp180	A	G	7: 24,105,262	T369A	possibly damaging	Het
Zfp827	A	G	8: 79,028,687	M1V	probably null	Het
Zmym4	A	G	4: 126,893,405	I1031T	probably 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
R8342:Slc12a7	UTSW	13	73785162	missense	probably benign
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'- ACTGTGGGCTCTTGAGCTCTAC -3'
(R):5'- ACCTTGTCCCTTCCCAGAAG -3'

Sequencing Primer
(F):5'- GGCTCTTGAGCTCTACACAGC -3'
(R):5'- TGTCCACTGAGACACGGTAC -3'

Posted On

2021-03-08