Mutagenetix > Incidental Mutation

Incidental Mutation 'R6995:Slc12a8'

544166

Institutional Source

Beutler Lab

Gene Symbol

Slc12a8

Ensembl Gene

ENSMUSG00000035506

Gene Name

solute carrier family 12 (potassium/chloride transporters), member 8

Synonyms

E330020C02Rik

MMRRC Submission

045101-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6995 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

33337698-33484505 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 33355263 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Stop codon at position 26 (W26*)

Ref Sequence

ENSEMBL: ENSMUSP00000113164 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059056] [ENSMUST00000119173] [ENSMUST00000121925] [ENSMUST00000122427]

AlphaFold

Q8VI23

Predicted Effect

probably null
Transcript: ENSMUST00000059056
AA Change: W26*

SMART Domains

Protein: ENSMUSP00000062337
Gene: ENSMUSG00000035506
AA Change: W26*

Domain	Start	End	E-Value	Type
Pfam:AA_permease_2	38	410	4e-24	PFAM
Pfam:AA_permease	43	409	5.3e-51	PFAM
low complexity region	481	496	N/A	INTRINSIC
transmembrane domain	585	607	N/A	INTRINSIC
transmembrane domain	612	634	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000119173

SMART Domains

Protein: ENSMUSP00000113633
Gene: ENSMUSG00000035506

Domain	Start	End	E-Value	Type
Pfam:AA_permease_2	7	266	4.2e-15	PFAM
Pfam:AA_permease	12	267	1.9e-37	PFAM
transmembrane domain	295	317	N/A	INTRINSIC
low complexity region	401	416	N/A	INTRINSIC
transmembrane domain	505	527	N/A	INTRINSIC
transmembrane domain	532	554	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000121925
AA Change: W26*

SMART Domains

Protein: ENSMUSP00000112439
Gene: ENSMUSG00000035506
AA Change: W26*

Domain	Start	End	E-Value	Type
Pfam:AA_permease_2	38	409	2.4e-23	PFAM
Pfam:AA_permease	43	409	5e-50	PFAM
low complexity region	481	496	N/A	INTRINSIC
transmembrane domain	585	607	N/A	INTRINSIC
transmembrane domain	612	634	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000122427
AA Change: W26*

SMART Domains

Protein: ENSMUSP00000113164
Gene: ENSMUSG00000035506
AA Change: W26*

Domain	Start	End	E-Value	Type
Pfam:AA_permease_2	38	386	7.7e-18	PFAM
Pfam:AA_permease	43	381	1.3e-44	PFAM
low complexity region	455	470	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is thought to be a candidate for psoriasis susceptibility. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Sep 2010]
PHENOTYPE: Mice homozygous for disruptions in this gene display a normal phenotype. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	A	G	7: 40,644,149 (GRCm39)	Y606C	probably benign	Het
Acad9	A	G	3: 36,139,630 (GRCm39)	Y410C	probably damaging	Het
Acot6	C	T	12: 84,156,149 (GRCm39)	P366S	probably damaging	Het
Adrm1b	T	C	3: 92,336,315 (GRCm39)		probably benign	Het
Anks1	G	T	17: 28,273,273 (GRCm39)	G964V	probably damaging	Het
Apol7a	A	T	15: 77,274,176 (GRCm39)		probably benign	Het
Arid3c	G	A	4: 41,725,087 (GRCm39)	A320V	probably damaging	Het
Bnip3l	A	T	14: 67,237,101 (GRCm39)	N50K	probably benign	Het
C1qtnf4	C	A	2: 90,720,297 (GRCm39)	A190D	probably benign	Het
Calhm5	A	T	10: 33,972,189 (GRCm39)	M82K	probably benign	Het
Cdcp3	G	T	7: 130,824,400 (GRCm39)	W165L	probably damaging	Het
Cdh1	G	T	8: 107,387,545 (GRCm39)	V482L	probably benign	Het
Cdrt4	A	C	11: 62,883,486 (GRCm39)	I63L	probably benign	Het
Cic	A	T	7: 24,970,736 (GRCm39)	T156S	possibly damaging	Het
Ckm	A	G	7: 19,154,156 (GRCm39)	N301S	probably benign	Het
Colgalt1	C	T	8: 72,076,165 (GRCm39)	R539C	probably damaging	Het
Cop1	A	G	1: 159,134,154 (GRCm39)	D132G	probably damaging	Het
Cpd	G	T	11: 76,675,881 (GRCm39)	N1257K	probably benign	Het
Cyp2c67	T	C	19: 39,604,123 (GRCm39)	H411R	probably damaging	Het
Cyp2r1	A	T	7: 114,152,316 (GRCm39)	F5I	probably damaging	Het
Dclk3	T	A	9: 111,296,768 (GRCm39)	L104Q	possibly damaging	Het
Dnah7c	A	T	1: 46,494,973 (GRCm39)	Q67L	probably benign	Het
Dnm1l	C	A	16: 16,147,671 (GRCm39)	E365*	probably null	Het
Dst	A	T	1: 34,205,315 (GRCm39)	I502F	probably damaging	Het
Espl1	T	C	15: 102,212,535 (GRCm39)	V547A	possibly damaging	Het
Foxa1	C	T	12: 57,589,264 (GRCm39)	A319T	probably benign	Het
Frem1	G	T	4: 82,904,838 (GRCm39)	H859N	probably damaging	Het
Frem3	T	A	8: 81,339,208 (GRCm39)	D500E	probably damaging	Het
Gpatch2l	G	A	12: 86,290,958 (GRCm39)	R47H	probably damaging	Het
Grip1	A	G	10: 119,822,375 (GRCm39)	D394G	probably damaging	Het
Gsap	C	A	5: 21,476,235 (GRCm39)	T589K	possibly damaging	Het
Gsg1l	A	G	7: 125,522,658 (GRCm39)	V190A	probably damaging	Het
Kcnmb1	A	T	11: 33,920,131 (GRCm39)	T115S	probably benign	Het
Kirrel2	A	C	7: 30,154,604 (GRCm39)	F169C	probably damaging	Het
L3mbtl1	C	T	2: 162,803,368 (GRCm39)	T397M	probably damaging	Het
Lama1	G	A	17: 68,060,820 (GRCm39)	C716Y		Het
Lamc2	G	A	1: 153,012,508 (GRCm39)	T722M	probably benign	Het
Lrig1	T	C	6: 94,588,610 (GRCm39)	D513G	possibly damaging	Het
Lrrk1	T	C	7: 65,942,090 (GRCm39)	D716G	probably damaging	Het
Matn4	G	A	2: 164,231,584 (GRCm39)	R582*	probably null	Het
Mdn1	A	T	4: 32,733,374 (GRCm39)	R3133W	probably benign	Het
Mmp7	A	G	9: 7,695,489 (GRCm39)	D122G	probably damaging	Het
Naaladl1	A	G	19: 6,165,578 (GRCm39)	D744G	possibly damaging	Het
Nampt	T	G	12: 32,898,742 (GRCm39)	Y453D	probably benign	Het
Nlrp12	A	G	7: 3,288,481 (GRCm39)	V677A	probably benign	Het
Ntng2	T	C	2: 29,087,080 (GRCm39)	N414S	probably damaging	Het
Or1e16	A	G	11: 73,286,410 (GRCm39)	V146A	probably benign	Het
Or4g17	A	G	2: 111,209,708 (GRCm39)	D121G	probably damaging	Het
Or5p52	A	G	7: 107,502,829 (GRCm39)	R302G	probably benign	Het
Or9m1b	A	C	2: 87,836,529 (GRCm39)	F189V	probably benign	Het
Parp4	A	C	14: 56,851,196 (GRCm39)	Q733P	probably damaging	Het
Pdcl3	G	A	1: 39,034,417 (GRCm39)	V56I	probably benign	Het
Pepd	A	G	7: 34,721,144 (GRCm39)	Y256C	probably damaging	Het
Plg	G	T	17: 12,637,938 (GRCm39)	R788L	probably benign	Het
Plod1	A	T	4: 148,000,675 (GRCm39)		probably benign	Het
Ptprc	A	G	1: 138,016,482 (GRCm39)	V513A	probably damaging	Het
Pxdn	T	C	12: 30,045,370 (GRCm39)	I373T	possibly damaging	Het
Qrfprl	A	T	6: 65,418,285 (GRCm39)	K151I	probably damaging	Het
Rbbp8	G	A	18: 11,851,965 (GRCm39)	G262E	probably damaging	Het
Rfc2	T	A	5: 134,623,104 (GRCm39)	Y240*	probably null	Het
Rps15	A	G	10: 80,129,598 (GRCm39)	E71G	possibly damaging	Het
Rsrc1	C	T	3: 66,901,982 (GRCm39)	P44L	unknown	Het
Ryr1	A	C	7: 28,793,607 (GRCm39)	M1287R	probably damaging	Het
Scart2	G	A	7: 139,841,514 (GRCm39)	D273N	probably benign	Het
Serpina9	A	G	12: 103,967,495 (GRCm39)	L300P	probably damaging	Het
Sh3rf2	G	A	18: 42,234,606 (GRCm39)	A130T	probably damaging	Het
Snx18	A	T	13: 113,731,265 (GRCm39)	H576Q	probably damaging	Het
Tagln3	G	A	16: 45,543,321 (GRCm39)	T107I	probably benign	Het
Thap1	C	A	8: 26,652,679 (GRCm39)	T139K	probably damaging	Het
Tle4	T	A	19: 14,541,817 (GRCm39)		probably null	Het
Tmem87a	A	T	2: 120,193,409 (GRCm39)	M502K	possibly damaging	Het
Tpcn2	A	T	7: 144,810,522 (GRCm39)	V605E	probably benign	Het
Trgj1	C	A	13: 19,394,529 (GRCm39)		probably benign	Het
Tsc2	A	T	17: 24,847,028 (GRCm39)	V179E	probably damaging	Het
Ubap2l	T	C	3: 89,916,548 (GRCm39)	T909A	probably damaging	Het
Ubl4b	T	G	3: 107,462,140 (GRCm39)	Q40P	probably damaging	Het
Vmn1r229	A	G	17: 21,035,277 (GRCm39)	D174G	probably damaging	Het
Vmn2r50	A	T	7: 9,779,964 (GRCm39)	Y472*	probably null	Het
Vmn2r74	T	A	7: 85,601,943 (GRCm39)	D565V	probably benign	Het
Vmn2r74	T	A	7: 85,606,860 (GRCm39)		probably null	Het
Vmn2r82	T	A	10: 79,232,377 (GRCm39)	V792E	probably damaging	Het
Zfp335	G	A	2: 164,735,210 (GRCm39)	Q1179*	probably null	Het
Zmynd12	A	C	4: 119,310,772 (GRCm39)	K327Q	probably benign	Het
Zwilch	G	A	9: 64,072,731 (GRCm39)	Q27*	probably null	Het

Other mutations in Slc12a8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00938:Slc12a8	APN	16	33,361,267 (GRCm39)	missense	probably damaging	1.00
IGL01701:Slc12a8	APN	16	33,361,280 (GRCm39)	missense	probably damaging	1.00
IGL02024:Slc12a8	APN	16	33,428,568 (GRCm39)	missense	probably damaging	1.00
IGL02223:Slc12a8	APN	16	33,445,060 (GRCm39)	missense	probably damaging	1.00
IGL02637:Slc12a8	APN	16	33,355,330 (GRCm39)	missense	probably benign	0.05
IGL03248:Slc12a8	APN	16	33,371,397 (GRCm39)	missense	probably damaging	1.00
R0136:Slc12a8	UTSW	16	33,428,583 (GRCm39)	missense	probably damaging	1.00
R0436:Slc12a8	UTSW	16	33,371,455 (GRCm39)	missense	probably damaging	1.00
R0586:Slc12a8	UTSW	16	33,478,600 (GRCm39)	missense	possibly damaging	0.87
R0669:Slc12a8	UTSW	16	33,371,274 (GRCm39)	missense	possibly damaging	0.91
R0780:Slc12a8	UTSW	16	33,467,035 (GRCm39)	splice site	probably null
R1170:Slc12a8	UTSW	16	33,483,347 (GRCm39)	missense	probably damaging	1.00
R1383:Slc12a8	UTSW	16	33,355,357 (GRCm39)	missense	probably damaging	1.00
R1707:Slc12a8	UTSW	16	33,371,377 (GRCm39)	missense	probably damaging	1.00
R2917:Slc12a8	UTSW	16	33,371,296 (GRCm39)	missense	probably damaging	1.00
R4092:Slc12a8	UTSW	16	33,437,491 (GRCm39)	missense	probably damaging	1.00
R4532:Slc12a8	UTSW	16	33,371,403 (GRCm39)	missense	probably damaging	1.00
R4604:Slc12a8	UTSW	16	33,428,529 (GRCm39)	missense	probably damaging	1.00
R4638:Slc12a8	UTSW	16	33,410,693 (GRCm39)	missense	possibly damaging	0.95
R4908:Slc12a8	UTSW	16	33,426,629 (GRCm39)	splice site	probably null
R5148:Slc12a8	UTSW	16	33,445,288 (GRCm39)	missense	probably benign	0.00
R5186:Slc12a8	UTSW	16	33,437,578 (GRCm39)	missense	probably damaging	1.00
R5711:Slc12a8	UTSW	16	33,410,679 (GRCm39)	missense	probably damaging	1.00
R5760:Slc12a8	UTSW	16	33,445,155 (GRCm39)	nonsense	probably null
R6122:Slc12a8	UTSW	16	33,445,384 (GRCm39)	missense	probably damaging	0.99
R6592:Slc12a8	UTSW	16	33,437,626 (GRCm39)	critical splice donor site	probably null
R7602:Slc12a8	UTSW	16	33,445,494 (GRCm39)	missense	probably benign	0.00
R7772:Slc12a8	UTSW	16	33,371,335 (GRCm39)	missense	probably damaging	1.00
R7849:Slc12a8	UTSW	16	33,444,930 (GRCm39)	missense	probably damaging	1.00
R8022:Slc12a8	UTSW	16	33,445,456 (GRCm39)	missense	probably benign	0.01
R8293:Slc12a8	UTSW	16	33,361,348 (GRCm39)	missense	probably benign	0.07
R8345:Slc12a8	UTSW	16	33,371,321 (GRCm39)	missense	probably benign	0.02
R8765:Slc12a8	UTSW	16	33,338,731 (GRCm39)	missense	possibly damaging	0.87
R9022:Slc12a8	UTSW	16	33,466,934 (GRCm39)	missense	probably benign	0.00
R9027:Slc12a8	UTSW	16	33,445,215 (GRCm39)	missense	probably benign	0.00
R9180:Slc12a8	UTSW	16	33,361,397 (GRCm39)	missense	probably damaging	1.00
R9384:Slc12a8	UTSW	16	33,466,947 (GRCm39)	missense	probably benign
Z1176:Slc12a8	UTSW	16	33,426,543 (GRCm39)	missense	possibly damaging	0.95
Z1176:Slc12a8	UTSW	16	33,361,335 (GRCm39)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- TAGAGTCATTCCTCACCTCTAGG -3'
(R):5'- GAAGCTTCACCCTGTCACAG -3'

Sequencing Primer
(F):5'- AGAGTCTCTCTGAGCTGAAACTGTC -3'
(R):5'- TGTCACAGGCCCACCAG -3'

Posted On

2019-05-13