Mutagenetix > Incidental Mutation

Incidental Mutation 'R0692:Slc12a1'

63369

Institutional Source

Beutler Lab

Gene Symbol

Slc12a1

Ensembl Gene

ENSMUSG00000027202

Gene Name

solute carrier family 12, member 1

Synonyms

D630042G03Rik, mBSC1, Nkcc2, urehr3

MMRRC Submission

038877-MU

Accession Numbers

Essential gene?

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

Stock #

R0692 (G1)

Quality Score

114

Status

Not validated

Chromosome

Chromosomal Location

124994430-125071922 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 125036082 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 651 (Y651*)

Ref Sequence

ENSEMBL: ENSMUSP00000106121 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000028630
AA Change: Y651*

SMART Domains

Protein: ENSMUSP00000028630
Gene: ENSMUSG00000027202
AA Change: Y651*

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 null
Transcript: ENSMUST00000110494
AA Change: Y651*

SMART Domains

Protein: ENSMUSP00000106120
Gene: ENSMUSG00000027202
AA Change: Y651*

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

probably null
Transcript: ENSMUST00000110495
AA Change: Y651*

SMART Domains

Protein: ENSMUSP00000106121
Gene: ENSMUSG00000027202
AA Change: Y651*

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

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 95.8%

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: 19 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Add3	T	A	19: 53,205,383 (GRCm39)	D44E	probably damaging	Het
Bpifb5	T	C	2: 154,076,616 (GRCm39)	V421A	probably benign	Het
Clk4	C	T	11: 51,172,155 (GRCm39)	R273*	probably null	Het
Cmya5	A	T	13: 93,230,357 (GRCm39)	L1577*	probably null	Het
Col14a1	G	C	15: 55,205,134 (GRCm39)	G88A	unknown	Het
Helz2	A	G	2: 180,882,674 (GRCm39)	C40R	probably benign	Het
Kcng1	T	A	2: 168,104,683 (GRCm39)	I388F	probably damaging	Het
Krt35	T	C	11: 99,983,896 (GRCm39)	E368G	possibly damaging	Het
Krt81	T	C	15: 101,358,053 (GRCm39)	D400G	possibly damaging	Het
Mcm3ap	T	C	10: 76,319,003 (GRCm39)	C744R	probably damaging	Het
Or5m3b	A	G	2: 85,872,516 (GRCm39)	M286V	probably benign	Het
Pde6c	A	T	19: 38,168,698 (GRCm39)	Y788F	probably damaging	Het
Plxnc1	A	G	10: 94,673,362 (GRCm39)		probably null	Het
Rflnb	T	C	11: 75,918,279 (GRCm39)	D62G	probably benign	Het
Sema4f	CCAGCAGCAGCAGCAGCAGC	CCAGCAGCAGCAGCAGC	6: 82,916,511 (GRCm39)		probably benign	Het
Srbd1	T	C	17: 86,443,888 (GRCm39)	T113A	probably benign	Het
Svopl	A	T	6: 37,994,131 (GRCm39)	L300Q	probably damaging	Het
Trim41	C	T	11: 48,699,077 (GRCm39)		probably null	Het
Vmn1r23	C	A	6: 57,903,110 (GRCm39)	E223*	probably null	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
IGL03191:Slc12a1	APN	2	125,048,009 (GRCm39)	missense	possibly damaging	0.87
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
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

Predicted Primers

PCR Primer
(F):5'- CGTGGGAGGGTACAACACTCTTTG -3'
(R):5'- GCGTGGATTATAGCCAAGCAAGCAG -3'

Sequencing Primer
(F):5'- GGTACAACACTCTTTGCAGGAAAC -3'
(R):5'- CTGCCGCTGTGAAATGTGAC -3'

Posted On

2013-07-30