Mutagenetix > Incidental Mutation

Incidental Mutation 'R7534:Slc12a7'

628206

Institutional Source

Beutler Lab

Gene Symbol

Slc12a7

Ensembl Gene

ENSMUSG00000017756

Gene Name

solute carrier family 12, member 7

Synonyms

Kcc4

MMRRC Submission

045606-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7534 (G1)

Quality Score

87.0076

Status

Validated

Chromosome

Chromosomal Location

73733094-73816754 bp(+) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

A to G at 73764068 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000017900 (fasta)

Gene Model

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

AlphaFold

Q9WVL3

Predicted Effect

probably benign
Transcript: ENSMUST00000017900

SMART Domains

Protein: ENSMUSP00000017900
Gene: ENSMUSG00000017756

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

unknown
Transcript: ENSMUST00000220535
AA Change: E101G

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (48/48)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310035C23Rik	G	A	1: 105,741,023	R993Q	probably benign	Het
Aif1	A	C	17: 35,171,414	M120R	possibly damaging	Het
Ank2	T	C	3: 126,934,333		probably null	Het
Ankrd11	A	T	8: 122,894,410	I901N	probably damaging	Het
Apc	T	C	18: 34,316,962	S2304P	probably damaging	Het
AW551984	A	T	9: 39,591,481	C632S	probably benign	Het
Bicra	T	C	7: 15,971,935	N1527S	probably damaging	Het
Cacna1d	A	G	14: 30,079,362	L1363P	probably damaging	Het
Cacna1g	G	A	11: 94,411,078	P2037S	probably benign	Het
Cdc27	A	G	11: 104,508,414	L724S	probably damaging	Het
Cttnbp2	C	T	6: 18,420,765		probably null	Het
Dchs1	G	A	7: 105,772,373	A280V	probably benign	Het
Dclk3	G	A	9: 111,468,218	G277R	probably benign	Het
Ddr1	A	G	17: 35,682,622		probably null	Het
Dnah7c	A	C	1: 46,770,067	D3515A	probably damaging	Het
Elovl4	G	A	9: 83,790,119	T49M	probably damaging	Het
Fam13b	A	T	18: 34,498,007	F40I	probably damaging	Het
Fancd2os	T	C	6: 113,597,640	H135R	probably benign	Het
Fer1l6	A	G	15: 58,638,026	I1446V	probably damaging	Het
Fyb2	T	A	4: 104,999,348	Y584*	probably null	Het
Galnt16	A	T	12: 80,597,135	L442F	probably damaging	Het
Garem1	T	A	18: 21,299,916		probably benign	Het
Ggta1	C	T	2: 35,402,428	R289Q	probably damaging	Het
Gm11564	T	C	11: 99,815,521	T28A	unknown	Het
Hcn1	A	G	13: 117,975,425	T642A	unknown	Het
Hhat	A	T	1: 192,726,304	L173H	probably damaging	Het
Hook1	T	G	4: 96,017,597	I585S	probably benign	Het
Ighg1	A	T	12: 113,329,729	S114T		Het
Kmt2d	G	A	15: 98,852,018	P2598L	unknown	Het
Macc1	A	T	12: 119,447,519	H674L	probably benign	Het
Mypn	T	C	10: 63,193,131	E51G	probably benign	Het
Olfr1012	A	C	2: 85,759,459	L306V	probably benign	Het
Olfr134	T	A	17: 38,175,297	M71K	probably benign	Het
Olfr862	A	G	9: 19,884,176	V43A	probably benign	Het
Pnliprp2	T	A	19: 58,775,142	S408T	probably benign	Het
Ppara	A	C	15: 85,777,726	Y56S	probably benign	Het
Ppp1r1a	A	G	15: 103,532,389	C114R	probably benign	Het
Pycard	C	T	7: 127,993,485	V57I	probably damaging	Het
Rin3	T	G	12: 102,350,941	Y143D	unknown	Het
Slitrk3	C	T	3: 73,050,107	R444H	probably damaging	Het
Ttf2	C	T	3: 100,950,412		probably null	Het
Ufsp2	T	A	8: 45,980,324	I25N	probably benign	Het
Uqcrc2	A	G	7: 120,641,689	T115A	possibly damaging	Het
Vmn2r43	T	A	7: 8,255,231	R328*	probably null	Het
Vmn2r8	T	A	5: 108,802,174	Y269F	possibly damaging	Het
Zbtb5	T	C	4: 44,995,030	Y118C	probably damaging	Het
Zeb1	T	C	18: 5,766,611	V374A	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
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
R9069:Slc12a7	UTSW	13	73805970	intron	probably benign
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
R9521:Slc12a7	UTSW	13	73798968	missense	probably benign	0.38
R9687:Slc12a7	UTSW	13	73790677	missense	probably damaging	1.00
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'- AGAGCGTGGATCAAACCTCC -3'
(R):5'- AACCAAGTAGTTTCCGGTGC -3'

Sequencing Primer
(F):5'- GTGGATCAAACCTCCCCTACG -3'
(R):5'- CAAGTAGTTTCCGGTGCTCCAG -3'

Posted On

2020-02-07