Mutagenetix > Incidental Mutation

Incidental Mutation 'R4782:Slc12a1'

366561

Institutional Source

Beutler Lab

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: 0.244) question?

Stock #

R4782 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

124994430-125071922 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 125002999 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 177 (R177*)

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: R177*

SMART Domains

Protein: ENSMUSP00000028630
Gene: ENSMUSG00000027202
AA Change: R177*

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: R177*

SMART Domains

Protein: ENSMUSP00000106120
Gene: ENSMUSG00000027202
AA Change: R177*

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: R177*

SMART Domains

Protein: ENSMUSP00000106121
Gene: ENSMUSG00000027202
AA Change: R177*

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: ENSMUST00000147095

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.4%

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: 121 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	G	11: 9,278,096 (GRCm39)	E3092G	probably damaging	Het
Abhd12b	C	G	12: 70,215,838 (GRCm39)	S170C	probably damaging	Het
Abtb2	A	T	2: 103,547,644 (GRCm39)	D1006V	probably benign	Het
Abtb3	A	C	10: 85,490,414 (GRCm39)	I1027L	probably damaging	Het
Adgrl1	A	G	8: 84,662,202 (GRCm39)	H1021R	probably benign	Het
Ago3	A	T	4: 126,241,665 (GRCm39)		probably null	Het
Ahnak	A	G	19: 8,989,863 (GRCm39)		probably benign	Het
Akap6	CA	C	12: 52,934,406 (GRCm39)		probably null	Het
Amotl2	T	G	9: 102,597,322 (GRCm39)		probably null	Het
Ankrd34b	T	A	13: 92,574,813 (GRCm39)	I15N	probably damaging	Het
Ap3d1	C	T	10: 80,557,420 (GRCm39)		probably null	Het
Appl2	A	T	10: 83,436,855 (GRCm39)	D635E	probably damaging	Het
Arid1b	C	T	17: 5,389,496 (GRCm39)	P1681S	probably damaging	Het
Atp10a	T	C	7: 58,440,843 (GRCm39)	M496T	probably benign	Het
Atp2c2	A	G	8: 120,475,891 (GRCm39)	K595E	probably damaging	Het
Atpaf2	T	C	11: 60,295,238 (GRCm39)	H204R	probably damaging	Het
Atr	G	A	9: 95,744,850 (GRCm39)	V56I	probably benign	Het
Bod1l	G	A	5: 41,991,006 (GRCm39)	T183I	probably benign	Het
Ccdc168	T	C	1: 44,098,203 (GRCm39)	D965G	possibly damaging	Het
Ccdc171	A	T	4: 83,599,253 (GRCm39)	E689D	probably damaging	Het
Cdc73	T	A	1: 143,503,613 (GRCm39)	Q346L	probably benign	Het
Cert1	T	C	13: 96,748,773 (GRCm39)	V281A	probably benign	Het
Chd2	A	T	7: 73,134,184 (GRCm39)	M721K	possibly damaging	Het
Col22a1	T	A	15: 71,673,774 (GRCm39)	T981S	unknown	Het
Cpox	G	A	16: 58,492,986 (GRCm39)	A207T	probably damaging	Het
Cym	G	A	3: 107,123,413 (GRCm39)	T160I	possibly damaging	Het
D130043K22Rik	T	C	13: 25,062,023 (GRCm39)	I664T	probably damaging	Het
Ddx4	C	T	13: 112,750,230 (GRCm39)		probably null	Het
Ddx4	A	T	13: 112,787,894 (GRCm39)	V15E	probably benign	Het
Depdc1a	G	A	3: 159,232,273 (GRCm39)	E675K	probably damaging	Het
Dglucy	A	T	12: 100,816,602 (GRCm39)	M415L	probably benign	Het
Dlg4	C	T	11: 69,917,780 (GRCm39)	P21L	probably damaging	Het
Dmxl1	A	T	18: 49,996,059 (GRCm39)	N395I	probably damaging	Het
Dzank1	A	T	2: 144,346,319 (GRCm39)	C249S	probably damaging	Het
Efnb2	A	T	8: 8,673,104 (GRCm39)		probably null	Het
Ercc6l2	T	G	13: 63,982,552 (GRCm39)	I244S	probably damaging	Het
Ewsr1	A	T	11: 5,020,423 (GRCm39)	M584K	unknown	Het
Fam193b	A	G	13: 55,691,284 (GRCm39)	S197P	probably damaging	Het
Fanca	A	G	8: 124,014,941 (GRCm39)	V689A	probably damaging	Het
Fbxo31	A	T	8: 122,279,178 (GRCm39)	Y436*	probably null	Het
Fbxo31	A	G	8: 122,279,180 (GRCm39)	Y436H	probably damaging	Het
Fcna	T	A	2: 25,515,338 (GRCm39)	D215V	probably damaging	Het
Foxj3	A	T	4: 119,478,857 (GRCm39)	S438C	unknown	Het
Gcm2	T	C	13: 41,256,970 (GRCm39)	K260E	possibly damaging	Het
Gcnt4	A	T	13: 97,083,914 (GRCm39)	L403F	possibly damaging	Het
Gdf10	A	G	14: 33,653,870 (GRCm39)	T126A	probably benign	Het
Ggcx	A	G	6: 72,405,875 (GRCm39)	K569E	probably benign	Het
Gm10250	C	T	15: 5,150,578 (GRCm39)		probably benign	Het
Gpnmb	G	T	6: 49,022,417 (GRCm39)		probably null	Het
Ifi44	G	A	3: 151,451,229 (GRCm39)	P241S	probably damaging	Het
Irs1	T	C	1: 82,265,184 (GRCm39)	T1011A	probably benign	Het
Jag2	A	T	12: 112,877,869 (GRCm39)	S595T	probably benign	Het
Kif5a	T	A	10: 127,066,823 (GRCm39)	Q960L	probably benign	Het
Kifc2	A	G	15: 76,548,548 (GRCm39)	E430G	possibly damaging	Het
Lama3	T	A	18: 12,544,627 (GRCm39)	C323*	probably null	Het
Lgsn	T	C	1: 31,242,823 (GRCm39)	Y302H	probably benign	Het
Lmbrd1	G	A	1: 24,784,056 (GRCm39)		probably null	Het
Lrpap1	A	G	5: 35,256,622 (GRCm39)	V120A	probably damaging	Het
Macrod2	T	A	2: 140,261,858 (GRCm39)	D46E	possibly damaging	Het
Mbd4	C	A	6: 115,822,283 (GRCm39)	R63L	possibly damaging	Het
Mfsd10	T	C	5: 34,792,293 (GRCm39)		probably benign	Het
Mib2	G	T	4: 155,744,229 (GRCm39)	S144R	probably benign	Het
Muc5b	T	A	7: 141,401,453 (GRCm39)	C566*	probably null	Het
Ndufs1	C	A	1: 63,200,108 (GRCm39)	G268V	probably damaging	Het
Nfs1	A	G	2: 155,976,369 (GRCm39)	V175A	possibly damaging	Het
Ngb	G	A	12: 87,146,999 (GRCm39)	H73Y	probably benign	Het
Npepps	G	A	11: 97,117,652 (GRCm39)	T549I	probably damaging	Het
Nr1h2	A	G	7: 44,199,923 (GRCm39)	V329A	possibly damaging	Het
Nsun6	T	C	2: 15,041,137 (GRCm39)	I151M	possibly damaging	Het
Ofcc1	T	C	13: 40,155,368 (GRCm39)		probably null	Het
Or1e31	C	T	11: 73,689,665 (GRCm39)	C306Y	probably benign	Het
Or2y16	T	A	11: 49,334,696 (GRCm39)	F6Y	probably benign	Het
Or2z8	A	G	8: 72,811,938 (GRCm39)	N138S	probably benign	Het
Or51h1	T	A	7: 102,308,041 (GRCm39)	N4K	possibly damaging	Het
Or5an1c	C	T	19: 12,218,936 (GRCm39)	V30I	probably benign	Het
Or8b46	A	G	9: 38,450,371 (GRCm39)	Y60C	probably damaging	Het
Parp6	A	G	9: 59,542,267 (GRCm39)		probably null	Het
Pcnt	C	A	10: 76,245,411 (GRCm39)	R1075S	possibly damaging	Het
Pla2g4f	T	C	2: 120,133,757 (GRCm39)	E548G	probably damaging	Het
Polrmt	G	T	10: 79,575,357 (GRCm39)	H725N	probably benign	Het
Pou2f3	T	C	9: 43,051,153 (GRCm39)	T178A	probably damaging	Het
Prtn3	C	A	10: 79,717,899 (GRCm39)	P169H	probably damaging	Het
Ptprd	A	G	4: 76,009,769 (GRCm39)	I764T	probably benign	Het
Ptprh	A	T	7: 4,572,576 (GRCm39)	H467Q	probably benign	Het
Raph1	A	T	1: 60,528,273 (GRCm39)	I996N	probably damaging	Het
Rasa4	G	A	5: 136,120,083 (GRCm39)	W53*	probably null	Het
Rasgrp1	C	T	2: 117,115,356 (GRCm39)	R744Q	probably benign	Het
Rmnd5a	T	C	6: 71,390,333 (GRCm39)	E141G	probably damaging	Het
Rps12	T	C	10: 23,662,688 (GRCm39)	I51M	possibly damaging	Het
Scn10a	T	G	9: 119,451,976 (GRCm39)	S1316R	possibly damaging	Het
Sdhb	A	G	4: 140,704,777 (GRCm39)	H246R	possibly damaging	Het
Setx	G	A	2: 29,034,058 (GRCm39)	R332Q	probably damaging	Het
Siglec1	A	C	2: 130,917,843 (GRCm39)	S1011R	probably damaging	Het
Sin3b	A	C	8: 73,452,271 (GRCm39)	I126L	probably benign	Het
Slc11a1	T	G	1: 74,423,247 (GRCm39)	L366R	probably damaging	Het
Slc30a1	A	C	1: 191,641,160 (GRCm39)	K269Q	probably benign	Het
Slco1a5	T	C	6: 142,194,533 (GRCm39)	Y370C	possibly damaging	Het
Slf2	T	A	19: 44,923,364 (GRCm39)		probably null	Het
Sltm	A	G	9: 70,496,339 (GRCm39)	H958R	probably damaging	Het
Snrnp40	A	G	4: 130,256,549 (GRCm39)	I91M	probably damaging	Het
Spta1	A	T	1: 174,058,232 (GRCm39)	Q1900L	probably benign	Het
Srgn	C	T	10: 62,333,631 (GRCm39)	E49K	possibly damaging	Het
Ssu2	A	C	6: 112,353,411 (GRCm39)	C238G	probably damaging	Het
Terf2	G	T	8: 107,803,307 (GRCm39)	H425Q	probably benign	Het
Thra	G	A	11: 98,646,990 (GRCm39)	S37N	probably benign	Het
Toporsl	A	G	4: 52,610,845 (GRCm39)	D246G	probably damaging	Het
Ubap2l	G	A	3: 89,928,210 (GRCm39)	T553M	probably damaging	Het
Usp10	A	G	8: 120,667,930 (GRCm39)	Y77C	probably benign	Het
Utrn	T	C	10: 12,625,813 (GRCm39)	T123A	probably damaging	Het
Vmn1r204	T	G	13: 22,740,867 (GRCm39)	F166C	probably benign	Het
Vmn2r14	T	C	5: 109,369,370 (GRCm39)	I68V	probably benign	Het
Wls	C	T	3: 159,603,082 (GRCm39)	T165I	probably benign	Het
Wsb1	A	G	11: 79,131,199 (GRCm39)	M399T	probably benign	Het
Xbp1	C	T	11: 5,471,167 (GRCm39)	T58M	probably damaging	Het
Zbtb46	A	T	2: 181,032,929 (GRCm39)	D577E	probably benign	Het
Zfp366	A	G	13: 99,382,991 (GRCm39)	D718G	probably damaging	Het
Zfp408	A	T	2: 91,475,369 (GRCm39)	V595E	possibly damaging	Het
Zfp493	T	A	13: 67,934,322 (GRCm39)	W60R	probably null	Het
Zfp606	A	T	7: 12,227,932 (GRCm39)	K626N	probably damaging	Het
Zfp820	A	T	17: 22,037,966 (GRCm39)	L454Q	probably benign	Het
Zswim5	A	G	4: 116,830,169 (GRCm39)	I515V	probably benign	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
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
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'- ATCCTGTTCACACTGAGAGCC -3'
(R):5'- GCGACCTTCATCTTTTGCAG -3'

Sequencing Primer
(F):5'- CTAGGATCCTGTTCACACTGAGAG -3'
(R):5'- CTTTTGCAGCACTGAAGGCAGAC -3'

Posted On

2015-12-29