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

73881213-73964873 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 73953590 bp (GRCm39)

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
Acvr1	T	A	2: 58,338,411 (GRCm39)	N437I	probably benign	Het
Adam34l	T	G	8: 44,078,949 (GRCm39)	N425T	probably benign	Het
Adgrg7	T	A	16: 56,599,005 (GRCm39)	T57S	possibly damaging	Het
Agbl2	T	A	2: 90,643,657 (GRCm39)	D792E	probably benign	Het
Ankrd9	A	T	12: 110,943,554 (GRCm39)	I160N	probably damaging	Het
Aoc1l2	A	G	6: 48,907,899 (GRCm39)	T300A	probably benign	Het
Baz2b	T	A	2: 59,737,855 (GRCm39)	Q1818L	possibly damaging	Het
Bod1	A	G	11: 31,616,740 (GRCm39)	*174Q	probably null	Het
Cacna1a	A	G	8: 85,315,382 (GRCm39)	Y1539C	probably damaging	Het
Clmn	A	C	12: 104,751,714 (GRCm39)	L247R	probably damaging	Het
Cyp1b1	G	T	17: 80,021,695 (GRCm39)	L16M	probably damaging	Het
Dhrs7l	T	C	12: 72,666,341 (GRCm39)	Y110C	probably damaging	Het
Dhx29	T	A	13: 113,101,071 (GRCm39)	S1205T	probably benign	Het
Dmkn	C	A	7: 30,479,104 (GRCm39)	A280E	probably damaging	Het
Dnah7b	G	A	1: 46,243,429 (GRCm39)	D1578N	probably damaging	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Homo
Dsc3	C	T	18: 20,098,852 (GRCm39)	G776R	possibly damaging	Het
Eefsec	A	G	6: 88,335,526 (GRCm39)		probably null	Het
Efhb	A	G	17: 53,769,580 (GRCm39)	F243S	possibly damaging	Het
Eif2ak2	A	T	17: 79,178,662 (GRCm39)	Y137*	probably null	Het
Eny2	A	G	15: 44,297,056 (GRCm39)		probably null	Het
F2rl3	A	G	8: 73,489,513 (GRCm39)	T247A	probably benign	Het
Fan1	A	T	7: 64,004,119 (GRCm39)	H782Q	probably damaging	Het
Fbxo28	A	G	1: 182,169,073 (GRCm39)	S22P	unknown	Het
Fcgbpl1	T	C	7: 27,830,885 (GRCm39)	C33R	probably damaging	Het
Fcrlb	A	G	1: 170,736,458 (GRCm39)	I106T	probably damaging	Het
Fer1l5	T	C	1: 36,414,367 (GRCm39)		probably null	Het
Fgfbp1	T	C	5: 44,136,704 (GRCm39)	D196G	possibly damaging	Het
Gab1	A	T	8: 81,606,161 (GRCm39)	Y24*	probably null	Het
Gcc2	T	C	10: 58,106,806 (GRCm39)	S681P	probably damaging	Het
Git2	T	C	5: 114,905,175 (GRCm39)	N94S	probably benign	Het
Gm5799	T	G	14: 43,782,088 (GRCm39)	L87V	probably damaging	Het
Gna12	A	G	5: 140,746,447 (GRCm39)	F333L	possibly damaging	Het
Gria2	A	G	3: 80,614,510 (GRCm39)	I510T	probably damaging	Het
Hace1	T	A	10: 45,546,539 (GRCm39)	I391N	possibly damaging	Het
Il1rap	A	G	16: 26,529,256 (GRCm39)	T310A	probably benign	Het
Itpr3	T	C	17: 27,305,934 (GRCm39)	I164T	probably damaging	Het
Kcnk4	T	C	19: 6,905,697 (GRCm39)	N90S	probably benign	Het
Krt40	G	A	11: 99,433,920 (GRCm39)	A22V	possibly damaging	Het
Lamc1	A	T	1: 153,099,412 (GRCm39)	D1520E	probably benign	Het
Lrrc37	A	T	11: 103,504,214 (GRCm39)	L2585I	probably damaging	Het
Mipep	T	A	14: 61,109,554 (GRCm39)	W644R	probably damaging	Het
Mycl	A	G	4: 122,893,713 (GRCm39)	D171G	probably damaging	Het
Myh7b	C	T	2: 155,473,719 (GRCm39)	A1584V	possibly damaging	Het
Nf1	A	G	11: 79,456,801 (GRCm39)	Y629C	probably damaging	Het
Obscn	T	A	11: 58,888,033 (GRCm39)	E2164V	probably damaging	Het
Or52h1	A	T	7: 103,828,961 (GRCm39)	V218D	possibly damaging	Het
Or5b118	T	C	19: 13,449,104 (GRCm39)	Y257H	probably damaging	Het
Or5w19	T	C	2: 87,698,904 (GRCm39)	S190P	possibly damaging	Het
Or6c209	T	C	10: 129,483,165 (GRCm39)	M56T	probably benign	Het
Or8k25	T	C	2: 86,243,551 (GRCm39)	I282V	probably damaging	Het
Pcdh20	T	C	14: 88,705,488 (GRCm39)	E604G	probably benign	Het
Pilra	T	C	5: 137,821,763 (GRCm39)	T291A	possibly damaging	Het
Ppp1r9a	G	T	6: 5,077,610 (GRCm39)	D630Y	probably damaging	Het
Pros1	A	C	16: 62,719,284 (GRCm39)	Q102P	possibly damaging	Het
Rad21l	T	C	2: 151,495,462 (GRCm39)	D407G	probably benign	Het
Rapgef5	G	A	12: 117,703,453 (GRCm39)		probably null	Het
Rbm25	G	A	12: 83,706,200 (GRCm39)	A182T	probably benign	Het
Rnf13	A	G	3: 57,740,391 (GRCm39)	E236G	possibly damaging	Het
Robo3	T	G	9: 37,332,225 (GRCm39)	Y891S	probably damaging	Het
Rsrp1	T	A	4: 134,654,113 (GRCm39)	I255K	probably damaging	Het
Scn1a	T	A	2: 66,107,962 (GRCm39)	Y1588F	possibly damaging	Het
Sdr16c6	T	A	4: 4,069,984 (GRCm39)	I119F	probably damaging	Het
Shoc1	T	A	4: 59,076,245 (GRCm39)	D566V	possibly damaging	Het
Slc23a1	A	G	18: 35,757,497 (GRCm39)	I258T	probably damaging	Het
Spata13	G	A	14: 60,929,456 (GRCm39)	R338H	probably benign	Het
Sufu	G	A	19: 46,464,071 (GRCm39)	G428R	probably damaging	Het
Sult2a1	T	C	7: 13,566,600 (GRCm39)	D125G	probably damaging	Het
Tapbp	T	C	17: 34,138,956 (GRCm39)	L41P	probably damaging	Het
Tbc1d16	T	A	11: 119,101,391 (GRCm39)	K40*	probably null	Het
Tdrd6	A	G	17: 43,940,643 (GRCm39)	V135A	probably damaging	Het
Tenm3	A	C	8: 48,870,094 (GRCm39)	V233G	probably damaging	Het
Tmem87a	A	T	2: 120,222,656 (GRCm39)		probably null	Het
Tspan11	T	C	6: 127,915,227 (GRCm39)	Y114H	probably damaging	Het
Ttn	T	A	2: 76,567,997 (GRCm39)	Y27632F	probably benign	Het
Usp44	G	A	10: 93,686,202 (GRCm39)	C539Y	probably damaging	Het
Vmn2r73	G	A	7: 85,519,099 (GRCm39)	P508S	probably benign	Het
Zfp831	A	G	2: 174,488,490 (GRCm39)	D1055G	possibly damaging	Het
Zfp871	CCACAC	CC	17: 32,994,494 (GRCm39)		probably null	Het

Other mutations in Slc12a7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00763:Slc12a7	APN	13	73,942,201 (GRCm39)	missense	possibly damaging	0.77
IGL01086:Slc12a7	APN	13	73,962,962 (GRCm39)	missense	probably damaging	1.00
IGL01344:Slc12a7	APN	13	73,940,856 (GRCm39)	missense	probably damaging	1.00
IGL01739:Slc12a7	APN	13	73,947,733 (GRCm39)	missense	probably benign	0.00
IGL02039:Slc12a7	APN	13	73,957,213 (GRCm39)	critical splice donor site	probably null
IGL02213:Slc12a7	APN	13	73,945,822 (GRCm39)	critical splice donor site	probably null
IGL02285:Slc12a7	APN	13	73,943,714 (GRCm39)	unclassified	probably benign
IGL02422:Slc12a7	APN	13	73,954,280 (GRCm39)	missense	probably benign	0.18
IGL02423:Slc12a7	APN	13	73,911,882 (GRCm39)	utr 5 prime	probably benign
IGL02596:Slc12a7	APN	13	73,933,242 (GRCm39)	missense	probably benign	0.01
IGL02794:Slc12a7	APN	13	73,957,206 (GRCm39)	missense	possibly damaging	0.68
IGL02813:Slc12a7	APN	13	73,961,795 (GRCm39)	unclassified	probably benign
IGL02868:Slc12a7	APN	13	73,954,507 (GRCm39)	missense	probably benign
R0828:Slc12a7	UTSW	13	73,936,771 (GRCm39)	missense	probably benign	0.03
R1440:Slc12a7	UTSW	13	73,949,127 (GRCm39)	missense	probably damaging	1.00
R1659:Slc12a7	UTSW	13	73,938,790 (GRCm39)	missense	probably damaging	1.00
R1669:Slc12a7	UTSW	13	73,943,232 (GRCm39)	missense	probably benign	0.00
R2111:Slc12a7	UTSW	13	73,933,274 (GRCm39)	nonsense	probably null
R3023:Slc12a7	UTSW	13	73,948,541 (GRCm39)	missense	probably benign	0.07
R3612:Slc12a7	UTSW	13	73,958,042 (GRCm39)	missense	probably benign	0.30
R4210:Slc12a7	UTSW	13	73,962,962 (GRCm39)	missense	probably damaging	1.00
R4353:Slc12a7	UTSW	13	73,938,853 (GRCm39)	missense	possibly damaging	0.63
R4761:Slc12a7	UTSW	13	73,961,708 (GRCm39)	missense	probably benign	0.06
R4801:Slc12a7	UTSW	13	73,912,011 (GRCm39)	critical splice donor site	probably null
R4802:Slc12a7	UTSW	13	73,912,011 (GRCm39)	critical splice donor site	probably null
R5002:Slc12a7	UTSW	13	73,911,896 (GRCm39)	missense	possibly damaging	0.66
R5128:Slc12a7	UTSW	13	73,953,552 (GRCm39)	missense	probably benign	0.03
R5594:Slc12a7	UTSW	13	73,933,258 (GRCm39)	missense	probably benign
R5760:Slc12a7	UTSW	13	73,961,741 (GRCm39)	missense	probably damaging	1.00
R5854:Slc12a7	UTSW	13	73,942,059 (GRCm39)	missense	probably benign	0.03
R6693:Slc12a7	UTSW	13	73,945,656 (GRCm39)	missense	probably benign	0.00
R6782:Slc12a7	UTSW	13	73,947,088 (GRCm39)	missense	probably damaging	0.99
R7169:Slc12a7	UTSW	13	73,932,679 (GRCm39)	missense	probably benign	0.30
R7225:Slc12a7	UTSW	13	73,912,081 (GRCm39)	intron	probably benign
R7458:Slc12a7	UTSW	13	73,933,188 (GRCm39)	missense	probably damaging	1.00
R7534:Slc12a7	UTSW	13	73,912,187 (GRCm39)	intron	probably benign
R7565:Slc12a7	UTSW	13	73,938,891 (GRCm39)	missense	possibly damaging	0.58
R7660:Slc12a7	UTSW	13	73,954,208 (GRCm39)	missense	probably benign
R7737:Slc12a7	UTSW	13	73,936,796 (GRCm39)	missense	probably benign	0.01
R7783:Slc12a7	UTSW	13	73,953,588 (GRCm39)	missense	probably benign	0.44
R7875:Slc12a7	UTSW	13	73,936,723 (GRCm39)	missense	possibly damaging	0.94
R8017:Slc12a7	UTSW	13	73,947,839 (GRCm39)	missense	probably damaging	1.00
R8019:Slc12a7	UTSW	13	73,947,839 (GRCm39)	missense	probably damaging	1.00
R8281:Slc12a7	UTSW	13	73,938,796 (GRCm39)	missense	probably damaging	1.00
R8342:Slc12a7	UTSW	13	73,933,281 (GRCm39)	missense	probably benign
R8747:Slc12a7	UTSW	13	73,933,241 (GRCm39)	missense	probably benign	0.30
R8920:Slc12a7	UTSW	13	73,946,568 (GRCm39)	missense	probably damaging	1.00
R9069:Slc12a7	UTSW	13	73,954,089 (GRCm39)	intron	probably benign
R9292:Slc12a7	UTSW	13	73,932,707 (GRCm39)	missense	possibly damaging	0.46
R9381:Slc12a7	UTSW	13	73,949,063 (GRCm39)	missense	probably benign	0.00
R9400:Slc12a7	UTSW	13	73,932,689 (GRCm39)	missense	probably benign	0.00
R9521:Slc12a7	UTSW	13	73,947,087 (GRCm39)	missense	probably benign	0.38
R9687:Slc12a7	UTSW	13	73,938,796 (GRCm39)	missense	probably damaging	1.00
X0023:Slc12a7	UTSW	13	73,936,727 (GRCm39)	missense	possibly damaging	0.94
X0028:Slc12a7	UTSW	13	73,946,660 (GRCm39)	splice site	probably null
X0065:Slc12a7	UTSW	13	73,949,064 (GRCm39)	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