Mutagenetix > Incidental Mutations

Incidental Mutation 'R6693:Slc12a7'

528182

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 #

R6693 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

73733094-73816754 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 73797537 bp

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 489 (A489S)

Ref Sequence

ENSEMBL: ENSMUSP00000017900 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000017900
AA Change: A489S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000017900
Gene: ENSMUSG00000017756
AA Change: A489S

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

probably benign
Transcript: ENSMUST00000220535

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220686

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221196

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222253

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222742

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223008

Meta Mutation Damage Score

0.1078

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.8%
20x: 93.3%

Validation Efficiency

100% (37/37)

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	C	3: 138,069,154	V1368A	probably benign	Het
Aak1	C	T	6: 86,965,515	S680L	unknown	Het
Adam25	A	T	8: 40,754,531	N278I	probably damaging	Het
Adamtsl1	C	A	4: 86,342,886	H1111Q	probably benign	Het
Adgrg7	T	A	16: 56,770,224	N195Y	probably damaging	Het
Arhgap23	A	G	11: 97,466,517	N436S	probably damaging	Het
Cfap65	T	C	1: 74,917,286	I1045V	probably benign	Het
Chrm3	T	C	13: 9,877,422	N526S	probably benign	Het
Cpeb2	A	T	5: 43,285,912	D982V	probably damaging	Het
Fbxw27	T	C	9: 109,788,044	I130V	probably benign	Het
Glb1l	T	C	1: 75,209,101	D61G	probably damaging	Het
Herc1	G	A	9: 66,478,976	C3737Y	probably damaging	Het
Kcnt2	A	T	1: 140,351,227	M39L	probably benign	Het
Kif17	C	A	4: 138,286,480	Q236K	probably benign	Het
Klhl25	T	C	7: 75,866,813	V184A	possibly damaging	Het
Lmf1	A	T	17: 25,645,278	M287L	probably benign	Het
Macf1	T	C	4: 123,473,808	T822A	possibly damaging	Het
Mmp13	A	T	9: 7,280,245	T392S	probably benign	Het
Myo6	T	A	9: 80,245,731	N215K	probably damaging	Het
Nedd1	T	C	10: 92,698,337	K317R	possibly damaging	Het
Olfr1154	A	G	2: 87,903,308	Y123H	probably damaging	Het
Olfr146	C	T	9: 39,018,801	A247T	probably damaging	Het
Pax9	T	A	12: 56,709,731	S285T	probably benign	Het
Pcdhb15	A	T	18: 37,474,341	T209S	probably benign	Het
Pdpk1	A	T	17: 24,111,126		probably null	Het
Rbak	T	C	5: 143,174,111	K396E	probably damaging	Het
Rps6ka5	A	G	12: 100,573,829	V545A	probably benign	Het
Scg2	G	T	1: 79,436,020	Q329K	probably benign	Het
Shroom3	G	A	5: 92,940,758	A456T	possibly damaging	Het
Slc16a4	T	C	3: 107,303,064	I350T	probably damaging	Het
Slc25a45	T	C	19: 5,880,134	V44A	possibly damaging	Het
Sucla2	T	A	14: 73,568,667	L102*	probably null	Het
Tgif1	T	A	17: 70,850,890		probably benign	Het
Tmem8b	A	G	4: 43,669,837	E111G	probably benign	Het
Zfp971	G	T	2: 178,033,431	K274N	probably benign	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
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
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'- GGAACAGTTTCAAGCCACCTAAG -3'
(R):5'- TTCATCTGCTGCACCTTGAG -3'

Sequencing Primer
(F):5'- AGCCACCTAAGCCCTTTCTGAG -3'
(R):5'- TGAGTGAAGGACTCACCT -3'

Posted On

2018-07-24