Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03191:Slc12a1'

412639

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc12a1

Ensembl Gene

ENSMUSG00000027202

Gene Name

solute carrier family 12, member 1

Synonyms

D630042G03Rik, mBSC1, Nkcc2, urehr3

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.249) question?

Stock #

IGL03191

Quality Score

Status

Chromosome

Chromosomal Location

124994430-125071922 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 125048009 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 817 (Q817L)

Ref Sequence

ENSEMBL: ENSMUSP00000028630 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028630] [ENSMUST00000110494] [ENSMUST00000110495]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000028630
AA Change: Q817L

PolyPhen 2 Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000028630
Gene: ENSMUSG00000027202
AA Change: Q817L

Domain	Start	End	E-Value	Type
low complexity region	2	15	N/A	INTRINSIC
Pfam:AA_permease_N	82	152	5.3e-22	PFAM
Pfam:AA_permease	173	677	2.3e-152	PFAM
Pfam:AA_permease_2	177	636	2.6e-24	PFAM
coiled coil region	815	843	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000110494
AA Change: Q817L

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000106120
Gene: ENSMUSG00000027202
AA Change: Q817L

Domain	Start	End	E-Value	Type
low complexity region	2	15	N/A	INTRINSIC
Pfam:AA_permease_N	83	148	3.3e-26	PFAM
Pfam:AA_permease	173	677	2.2e-151	PFAM
Pfam:SLC12	685	1090	1.5e-153	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000110495
AA Change: Q817L

PolyPhen 2 Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000106121
Gene: ENSMUSG00000027202
AA Change: Q817L

Domain	Start	End	E-Value	Type
low complexity region	2	15	N/A	INTRINSIC
Pfam:AA_permease_N	83	148	3.3e-26	PFAM
Pfam:AA_permease	173	677	1.6e-151	PFAM
Pfam:SLC12	685	1090	1.5e-153	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123574

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a kidney-specific sodium-potassium-chloride cotransporter that is expressed on the luminal membrane of renal epithelial cells of the thick ascending limb of Henle's loop and the macula densa. It plays a key role in concentrating urine and accounts for most of the NaCl resorption. It is sensitive to such diuretics as furosemide and bumetanide. Some Bartter-like syndromes result from defects in this gene. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional splice variants have been described but their biological validity in humans has not been experimentally proven.[provided by RefSeq, May 2010]
PHENOTYPE: Mice homozygous for disruptions in this gene do not survive to weaning and suffer from various metabolic abnormalities related to kidney function. Mice homozygous for an ENU-induced allele exhibit kidney disease, impaired urinary excretion of metabolism products, polyuria, and kidney alterations. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aox1	A	G	1: 58,398,228 (GRCm39)	D1323G	probably null	Het
Asxl2	A	G	12: 3,550,094 (GRCm39)	D612G	probably damaging	Het
Cacna1c	A	T	6: 118,718,864 (GRCm39)	F395L	probably damaging	Het
Cct8	A	G	16: 87,283,198 (GRCm39)	S380P	probably damaging	Het
Cltb	T	C	13: 54,746,883 (GRCm39)	E31G	probably damaging	Het
Cobl	T	C	11: 12,203,364 (GRCm39)	M1031V	probably benign	Het
Colgalt1	C	A	8: 72,075,731 (GRCm39)		probably null	Het
Dcstamp	A	G	15: 39,617,620 (GRCm39)	I10V	probably benign	Het
Diaph3	T	C	14: 87,310,738 (GRCm39)	I138V	possibly damaging	Het
Dnah8	T	C	17: 30,945,804 (GRCm39)	V1827A	probably damaging	Het
Dpf1	T	A	7: 29,015,986 (GRCm39)		probably benign	Het
Dscam	A	T	16: 96,621,969 (GRCm39)	L494Q	probably benign	Het
Eif2ak4	C	T	2: 118,252,693 (GRCm39)	H422Y	probably damaging	Het
Galnt10	T	C	11: 57,662,326 (GRCm39)	V324A	probably damaging	Het
Hcfc1	T	C	X: 72,999,220 (GRCm39)	I309V	probably benign	Het
Il24	T	C	1: 130,812,584 (GRCm39)	T96A	probably benign	Het
Itga2	T	C	13: 114,973,020 (GRCm39)		probably benign	Het
Lrrc32	A	G	7: 98,147,454 (GRCm39)	H78R	possibly damaging	Het
Lrrk1	T	C	7: 65,909,707 (GRCm39)	E2001G	probably damaging	Het
Lztr1	T	A	16: 17,336,392 (GRCm39)	M199K	probably damaging	Het
Mcm8	A	G	2: 132,663,362 (GRCm39)	Y160C	possibly damaging	Het
Msh4	G	A	3: 153,575,245 (GRCm39)	T710M	probably damaging	Het
Pate8	T	C	9: 36,492,698 (GRCm39)	D69G	probably benign	Het
Pilrb1	A	T	5: 137,853,227 (GRCm39)	L192Q	probably damaging	Het
Pim1	T	A	17: 29,712,693 (GRCm39)		probably benign	Het
Trip11	T	C	12: 101,865,184 (GRCm39)	D163G	probably damaging	Het
Tsc2	A	T	17: 24,847,028 (GRCm39)	V179E	probably damaging	Het
Zfp641	C	T	15: 98,186,568 (GRCm39)	V352M	probably damaging	Het

Other mutations in Slc12a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00798:Slc12a1	APN	2	125,030,114 (GRCm39)	missense	probably damaging	1.00
IGL00845:Slc12a1	APN	2	125,030,158 (GRCm39)	missense	probably damaging	1.00
IGL01348:Slc12a1	APN	2	125,036,051 (GRCm39)	missense	probably damaging	1.00
IGL01534:Slc12a1	APN	2	125,059,830 (GRCm39)	missense	probably damaging	1.00
IGL01677:Slc12a1	APN	2	125,020,069 (GRCm39)	splice site	probably benign
IGL02150:Slc12a1	APN	2	125,026,735 (GRCm39)	missense	probably damaging	1.00
IGL02220:Slc12a1	APN	2	125,030,190 (GRCm39)	critical splice donor site	probably null
IGL02568:Slc12a1	APN	2	125,026,648 (GRCm39)	missense	probably damaging	1.00
IGL02602:Slc12a1	APN	2	124,996,162 (GRCm39)	missense	probably damaging	1.00
IGL02625:Slc12a1	APN	2	125,012,611 (GRCm39)	missense	probably damaging	1.00
IGL02635:Slc12a1	APN	2	125,067,898 (GRCm39)	missense	probably benign
IGL02672:Slc12a1	APN	2	125,012,596 (GRCm39)	missense	probably damaging	1.00
IGL02718:Slc12a1	APN	2	125,002,999 (GRCm39)	nonsense	probably null
FR4449:Slc12a1	UTSW	2	124,996,136 (GRCm39)	small insertion	probably benign
FR4548:Slc12a1	UTSW	2	124,996,134 (GRCm39)	small insertion	probably benign
FR4737:Slc12a1	UTSW	2	124,996,134 (GRCm39)	small insertion	probably benign
PIT4431001:Slc12a1	UTSW	2	125,032,124 (GRCm39)	missense	possibly damaging	0.78
R0033:Slc12a1	UTSW	2	125,055,929 (GRCm39)	missense	probably benign
R0127:Slc12a1	UTSW	2	125,061,682 (GRCm39)	missense	probably damaging	1.00
R0312:Slc12a1	UTSW	2	125,067,948 (GRCm39)	missense	probably damaging	0.98
R0373:Slc12a1	UTSW	2	125,067,951 (GRCm39)	missense	probably damaging	1.00
R0692:Slc12a1	UTSW	2	125,036,082 (GRCm39)	nonsense	probably null
R1194:Slc12a1	UTSW	2	125,026,687 (GRCm39)	missense	probably benign	0.00
R1264:Slc12a1	UTSW	2	125,060,158 (GRCm39)	missense	possibly damaging	0.56
R1529:Slc12a1	UTSW	2	125,032,215 (GRCm39)	missense	probably damaging	1.00
R1543:Slc12a1	UTSW	2	125,026,777 (GRCm39)	missense	possibly damaging	0.93
R1940:Slc12a1	UTSW	2	125,036,113 (GRCm39)	missense	probably benign	0.05
R2109:Slc12a1	UTSW	2	125,015,619 (GRCm39)	missense	probably damaging	1.00
R2167:Slc12a1	UTSW	2	125,015,601 (GRCm39)	missense	probably damaging	1.00
R3409:Slc12a1	UTSW	2	124,996,071 (GRCm39)	missense	probably benign	0.00
R3902:Slc12a1	UTSW	2	125,030,113 (GRCm39)	missense	probably damaging	1.00
R4079:Slc12a1	UTSW	2	125,042,543 (GRCm39)	missense	possibly damaging	0.86
R4502:Slc12a1	UTSW	2	125,067,964 (GRCm39)	missense	probably damaging	1.00
R4557:Slc12a1	UTSW	2	125,028,561 (GRCm39)	missense	probably damaging	1.00
R4719:Slc12a1	UTSW	2	124,995,913 (GRCm39)	missense	possibly damaging	0.82
R4782:Slc12a1	UTSW	2	125,002,999 (GRCm39)	nonsense	probably null
R4845:Slc12a1	UTSW	2	125,030,146 (GRCm39)	missense	probably damaging	1.00
R4913:Slc12a1	UTSW	2	125,070,670 (GRCm39)	missense	probably damaging	0.96
R5024:Slc12a1	UTSW	2	125,008,057 (GRCm39)	missense	probably benign	0.00
R5112:Slc12a1	UTSW	2	125,060,144 (GRCm39)	missense	possibly damaging	0.63
R5334:Slc12a1	UTSW	2	125,059,809 (GRCm39)	missense	probably damaging	1.00
R5470:Slc12a1	UTSW	2	125,012,634 (GRCm39)	missense	probably damaging	1.00
R6057:Slc12a1	UTSW	2	125,032,133 (GRCm39)	missense	probably damaging	1.00
R6604:Slc12a1	UTSW	2	125,026,735 (GRCm39)	missense	probably damaging	1.00
R6941:Slc12a1	UTSW	2	125,055,999 (GRCm39)	missense	possibly damaging	0.85
R6944:Slc12a1	UTSW	2	125,002,454 (GRCm39)	missense	probably damaging	0.97
R7049:Slc12a1	UTSW	2	125,013,177 (GRCm39)	missense	probably benign	0.04
R7204:Slc12a1	UTSW	2	125,042,542 (GRCm39)	missense	possibly damaging	0.93
R7427:Slc12a1	UTSW	2	125,056,052 (GRCm39)	missense	probably benign
R7428:Slc12a1	UTSW	2	125,056,052 (GRCm39)	missense	probably benign
R7432:Slc12a1	UTSW	2	125,047,960 (GRCm39)	missense	probably benign	0.36
R7470:Slc12a1	UTSW	2	125,059,815 (GRCm39)	nonsense	probably null
R7828:Slc12a1	UTSW	2	125,008,602 (GRCm39)	missense	possibly damaging	0.85
R7862:Slc12a1	UTSW	2	125,003,014 (GRCm39)	missense	probably damaging	0.99
R7923:Slc12a1	UTSW	2	125,056,012 (GRCm39)	missense	possibly damaging	0.75
R8020:Slc12a1	UTSW	2	125,020,022 (GRCm39)	missense	possibly damaging	0.78
R8071:Slc12a1	UTSW	2	125,028,234 (GRCm39)	missense	probably damaging	1.00
R8272:Slc12a1	UTSW	2	125,070,736 (GRCm39)	missense	probably damaging	1.00
R8302:Slc12a1	UTSW	2	125,032,209 (GRCm39)	missense	probably damaging	0.99
R8722:Slc12a1	UTSW	2	125,002,518 (GRCm39)	missense	probably damaging	1.00
R9029:Slc12a1	UTSW	2	124,996,004 (GRCm39)	missense	probably benign
R9153:Slc12a1	UTSW	2	125,002,989 (GRCm39)	splice site	probably benign
R9449:Slc12a1	UTSW	2	125,028,144 (GRCm39)	missense	probably damaging	1.00
R9568:Slc12a1	UTSW	2	125,032,218 (GRCm39)	missense	probably damaging	1.00
R9614:Slc12a1	UTSW	2	125,002,445 (GRCm39)	missense	probably damaging	0.99
R9723:Slc12a1	UTSW	2	125,059,827 (GRCm39)	missense	probably damaging	1.00
RF032:Slc12a1	UTSW	2	124,996,130 (GRCm39)	small insertion	probably benign

Posted On

2016-08-02