Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00763:Slc12a7'

14039

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc12a7

Ensembl Gene

ENSMUSG00000017756

Gene Name

solute carrier family 12, member 7

Synonyms

Kcc4

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00763

Quality Score

Status

Chromosome

Chromosomal Location

73881213-73964873 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 73942201 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 359 (N359I)

Ref Sequence

ENSEMBL: ENSMUSP00000017900 (fasta)

Gene Model

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

AlphaFold

Q9WVL3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000017900
AA Change: N359I

PolyPhen 2 Score 0.769 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000017900
Gene: ENSMUSG00000017756
AA Change: N359I

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: ENSMUST00000221196

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222253

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222742

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223008

Coding Region Coverage

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: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bmp3	A	C	5: 99,020,238 (GRCm39)	R220S	possibly damaging	Het
Bms1	A	G	6: 118,395,363 (GRCm39)		probably benign	Het
Ccdc138	T	A	10: 58,411,537 (GRCm39)	F635Y	probably damaging	Het
Ccdc81	T	C	7: 89,518,823 (GRCm39)		probably benign	Het
Cntnap5a	T	C	1: 116,045,407 (GRCm39)	I341T	possibly damaging	Het
Cog5	C	T	12: 31,715,531 (GRCm39)		probably benign	Het
Dcaf4	G	A	12: 83,586,107 (GRCm39)	R358H	probably damaging	Het
Ddx10	A	C	9: 53,071,326 (GRCm39)		probably benign	Het
Fgf15	T	A	7: 144,453,629 (GRCm39)	F201I	probably damaging	Het
Galp	A	G	7: 6,211,499 (GRCm39)	Y40C	probably damaging	Het
Ints6	A	G	14: 62,938,314 (GRCm39)		probably benign	Het
Iqcb1	A	T	16: 36,676,649 (GRCm39)		probably benign	Het
Kif19a	G	A	11: 114,657,994 (GRCm39)	V18I	probably benign	Het
Lypd8l	T	G	11: 58,503,707 (GRCm39)		probably benign	Het
Morc1	A	C	16: 48,432,689 (GRCm39)	Q719P	probably damaging	Het
Pla2g4a	T	C	1: 149,727,076 (GRCm39)	D568G	probably damaging	Het
Plscr4	A	G	9: 92,366,998 (GRCm39)	E204G	probably null	Het
Rasgrf1	A	G	9: 89,853,073 (GRCm39)	T403A	probably benign	Het
Sec16b	A	G	1: 157,356,827 (GRCm39)	T12A	probably benign	Het
Slc14a2	G	T	18: 78,235,453 (GRCm39)	D241E	probably damaging	Het
Slc23a2	G	T	2: 131,943,420 (GRCm39)	A27E	probably benign	Het
Slc38a8	T	C	8: 120,220,958 (GRCm39)	I200M	probably benign	Het
Thrap3	C	T	4: 126,059,371 (GRCm39)	G892S	probably benign	Het
Tmc6	A	G	11: 117,669,872 (GRCm39)	L20P	probably damaging	Het
Tnfsfm13	T	C	11: 69,575,536 (GRCm39)	D256G	probably benign	Het
Tonsl	C	T	15: 76,518,068 (GRCm39)	A605T	probably damaging	Het
Usp28	A	G	9: 48,939,463 (GRCm39)	T240A	probably benign	Het
Zap70	A	T	1: 36,818,333 (GRCm39)	D340V	possibly damaging	Het
Zfp512b	A	T	2: 181,231,944 (GRCm39)	F100I	probably damaging	Het

Other mutations in Slc12a7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2012-12-06