Mutagenetix > Incidental Mutation

Incidental Mutation 'R6233:Slc12a7'

504776

Institutional Source

Beutler Lab

Gene Symbol

Slc12a7

Ensembl Gene

ENSMUSG00000017756

Gene Name

solute carrier family 12, member 7

Synonyms

Kcc4

MMRRC Submission

044361-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6233 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

73733094-73816754 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 73805471 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 767 (S767P)

Ref Sequence

ENSEMBL: ENSMUSP00000017900 (fasta)

Gene Model

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

AlphaFold

Q9WVL3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000017900
AA Change: S767P

PolyPhen 2 Score 0.630 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000017900
Gene: ENSMUSG00000017756
AA Change: S767P

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

noncoding transcript
Transcript: ENSMUST00000220686

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222253

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222309

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223454

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.2%
20x: 94.8%

Validation Efficiency

98% (79/81)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600015I10Rik	A	G	6: 48,930,965	T300A	probably benign	Het
9530053A07Rik	T	C	7: 28,131,460	C33R	probably damaging	Het
Acvr1	T	A	2: 58,448,399	N437I	probably benign	Het
Adgrg7	T	A	16: 56,778,642	T57S	possibly damaging	Het
Agbl2	T	A	2: 90,813,313	D792E	probably benign	Het
AI481877	T	A	4: 59,076,245	D566V	possibly damaging	Het
Ankrd9	A	T	12: 110,977,120	I160N	probably damaging	Het
Baz2b	T	A	2: 59,907,511	Q1818L	possibly damaging	Het
Bod1	A	G	11: 31,666,740	*174Q	probably null	Het
Cacna1a	A	G	8: 84,588,753	Y1539C	probably damaging	Het
Clmn	A	C	12: 104,785,455	L247R	probably damaging	Het
Cyp1b1	G	T	17: 79,714,266	L16M	probably damaging	Het
Dhx29	T	A	13: 112,964,537	S1205T	probably benign	Het
Dmkn	C	A	7: 30,779,679	A280E	probably damaging	Het
Dnah7b	G	A	1: 46,204,269	D1578N	probably damaging	Het
Dnase1l1	C	T	X: 74,277,038		probably null	Homo
Dsc3	C	T	18: 19,965,795	G776R	possibly damaging	Het
Eefsec	A	G	6: 88,358,544		probably null	Het
Efhb	A	G	17: 53,462,552	F243S	possibly damaging	Het
Eif2ak2	A	T	17: 78,871,233	Y137*	probably null	Het
Eny2	A	G	15: 44,433,660		probably null	Het
F2rl3	A	G	8: 72,762,885	T247A	probably benign	Het
Fan1	A	T	7: 64,354,371	H782Q	probably damaging	Het
Fbxo28	A	G	1: 182,341,508	S22P	unknown	Het
Fcrlb	A	G	1: 170,908,889	I106T	probably damaging	Het
Fer1l5	T	C	1: 36,375,286		probably null	Het
Fgfbp1	T	C	5: 43,979,362	D196G	possibly damaging	Het
Gab1	A	T	8: 80,879,532	Y24*	probably null	Het
Gcc2	T	C	10: 58,270,984	S681P	probably damaging	Het
Git2	T	C	5: 114,767,114	N94S	probably benign	Het
Gm4756	T	C	12: 72,619,567	Y110C	probably damaging	Het
Gm5346	T	G	8: 43,625,912	N425T	probably benign	Het
Gm5799	T	G	14: 43,544,631	L87V	probably damaging	Het
Gm884	A	T	11: 103,613,388	L2585I	probably damaging	Het
Gna12	A	G	5: 140,760,692	F333L	possibly damaging	Het
Gria2	A	G	3: 80,707,203	I510T	probably damaging	Het
Hace1	T	A	10: 45,670,443	I391N	possibly damaging	Het
Il1rap	A	G	16: 26,710,506	T310A	probably benign	Het
Itpr3	T	C	17: 27,086,960	I164T	probably damaging	Het
Kcnk4	T	C	19: 6,928,329	N90S	probably benign	Het
Krt40	G	A	11: 99,543,094	A22V	possibly damaging	Het
Lamc1	A	T	1: 153,223,666	D1520E	probably benign	Het
Mipep	T	A	14: 60,872,105	W644R	probably damaging	Het
Mycl	A	G	4: 122,999,920	D171G	probably damaging	Het
Myh7b	C	T	2: 155,631,799	A1584V	possibly damaging	Het
Nf1	A	G	11: 79,565,975	Y629C	probably damaging	Het
Obscn	T	A	11: 58,997,207	E2164V	probably damaging	Het
Olfr1061	T	C	2: 86,413,207	I282V	probably damaging	Het
Olfr1152	T	C	2: 87,868,560	S190P	possibly damaging	Het
Olfr1474	T	C	19: 13,471,740	Y257H	probably damaging	Het
Olfr648	A	T	7: 104,179,754	V218D	possibly damaging	Het
Olfr799	T	C	10: 129,647,296	M56T	probably benign	Het
Pcdh20	T	C	14: 88,468,052	E604G	probably benign	Het
Pilra	T	C	5: 137,823,501	T291A	possibly damaging	Het
Ppp1r9a	G	T	6: 5,077,610	D630Y	probably damaging	Het
Pros1	A	C	16: 62,898,921	Q102P	possibly damaging	Het
Rad21l	T	C	2: 151,653,542	D407G	probably benign	Het
Rapgef5	G	A	12: 117,739,718		probably null	Het
Rbm25	G	A	12: 83,659,426	A182T	probably benign	Het
Rnf13	A	G	3: 57,832,970	E236G	possibly damaging	Het
Robo3	T	G	9: 37,420,929	Y891S	probably damaging	Het
Rsrp1	T	A	4: 134,926,802	I255K	probably damaging	Het
Scn1a	T	A	2: 66,277,618	Y1588F	possibly damaging	Het
Sdr16c6	T	A	4: 4,069,984	I119F	probably damaging	Het
Slc23a1	A	G	18: 35,624,444	I258T	probably damaging	Het
Spata13	G	A	14: 60,692,007	R338H	probably benign	Het
Sufu	G	A	19: 46,475,632	G428R	probably damaging	Het
Sult2a1	T	C	7: 13,832,675	D125G	probably damaging	Het
Tapbp	T	C	17: 33,919,982	L41P	probably damaging	Het
Tbc1d16	T	A	11: 119,210,565	K40*	probably null	Het
Tdrd6	A	G	17: 43,629,752	V135A	probably damaging	Het
Tenm3	A	C	8: 48,417,059	V233G	probably damaging	Het
Tmem87a	A	T	2: 120,392,175		probably null	Het
Tspan11	T	C	6: 127,938,264	Y114H	probably damaging	Het
Ttn	T	A	2: 76,737,653	Y27632F	probably benign	Het
Usp44	G	A	10: 93,850,340	C539Y	probably damaging	Het
Vmn2r73	G	A	7: 85,869,891	P508S	probably benign	Het
Zfp831	A	G	2: 174,646,697	D1055G	possibly damaging	Het
Zfp871	CCACAC	CC	17: 32,775,520		probably null	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
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
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'- CATGGCCCATGAGTGTTGGATG -3'
(R):5'- GTAACACTTGGGATGGGCATG -3'

Sequencing Primer
(F):5'- CCCATGAGTGTTGGATGCTTATTC -3'
(R):5'- GCATGGTTGCCACACCCAC -3'

Posted On

2018-02-28