Mutagenetix > Incidental Mutation

Incidental Mutation 'R3023:Slc12a7'

265761

Institutional Source

Beutler Lab

Gene Symbol

Slc12a7

Ensembl Gene

ENSMUSG00000017756

Gene Name

solute carrier family 12, member 7

Synonyms

Kcc4

MMRRC Submission

040539-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3023 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

73881213-73964873 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 73948541 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 669 (S669T)

Ref Sequence

ENSEMBL: ENSMUSP00000017900 (fasta)

Gene Model

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

AlphaFold

Q9WVL3

Predicted Effect

probably benign
Transcript: ENSMUST00000017900
AA Change: S669T

PolyPhen 2 Score 0.071 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000017900
Gene: ENSMUSG00000017756
AA Change: S669T

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: ENSMUST00000221196

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222253

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222742

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223008

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223454

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 93.7%

Validation Efficiency

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: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	T	6: 121,646,531 (GRCm39)	E1060D	probably benign	Het
Abca15	A	T	7: 119,982,002 (GRCm39)	I1106F	probably benign	Het
Arl5a	A	G	2: 52,306,209 (GRCm39)	V41A	probably benign	Het
Atp8b5	A	G	4: 43,311,957 (GRCm39)	D190G	possibly damaging	Het
Cc2d2a	T	A	5: 43,842,593 (GRCm39)		probably null	Het
Ckap2	T	C	8: 22,665,877 (GRCm39)	N390S	possibly damaging	Het
Dtx3l	A	G	16: 35,752,806 (GRCm39)	I600T	probably benign	Het
Epb41l1	A	C	2: 156,356,129 (GRCm39)	E555A	probably damaging	Het
Fxr1	G	A	3: 34,118,373 (GRCm39)	R503H	probably damaging	Het
Igf1r	A	G	7: 67,833,147 (GRCm39)	N436D	probably benign	Het
Kif26b	G	A	1: 178,692,433 (GRCm39)	C11Y	probably damaging	Het
Or4a78	A	G	2: 89,497,990 (GRCm39)	I80T	possibly damaging	Het
Osbpl6	A	T	2: 76,417,077 (GRCm39)	I703F	probably damaging	Het
Plcd4	A	G	1: 74,587,351 (GRCm39)	Y37C	probably damaging	Het
Plekhm3	CCTGCTGCTGCTGCTGCTGCTGCTGC	CCTGCTGCTGCTGCTGCTGCTGC	1: 64,976,940 (GRCm39)		probably benign	Het
Pwwp2b	G	A	7: 138,836,110 (GRCm39)	R517H	probably damaging	Het
Rp1	G	A	1: 4,422,898 (GRCm39)	R61W	probably damaging	Het
Sdk1	C	G	5: 142,031,991 (GRCm39)	T1022S	probably benign	Het
Sstr3	G	A	15: 78,424,187 (GRCm39)	R187W	probably damaging	Het
Tlr2	C	T	3: 83,745,178 (GRCm39)	V302I	probably benign	Het
Trav7-6	A	G	14: 53,954,701 (GRCm39)	K77R	probably benign	Het
Vmn2r18	T	C	5: 151,485,148 (GRCm39)	N782S	probably benign	Het
Vmn2r78	G	T	7: 86,604,174 (GRCm39)	S784I	probably damaging	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
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
R6233:Slc12a7	UTSW	13	73,953,590 (GRCm39)	missense	possibly damaging	0.63
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'- TGAATGGTACCACAAGGAAGTC -3'
(R):5'- TCAGATCTCTCCTCAGAAGGC -3'

Sequencing Primer
(F):5'- AAGTCCTGCTGCTCGAAC -3'
(R):5'- GATCTCTCCTCAGAAGGCCAAGAG -3'

Posted On

2015-02-05