Mutagenetix > Incidental Mutation

Incidental Mutation 'R7772:Slc12a8'

598667

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

045828-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7772 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

33337698-33484505 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 33371335 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 126 (R126H)

Ref Sequence

ENSEMBL: ENSMUSP00000113633 (fasta)

Gene Model

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

AlphaFold

Q8VI23

Predicted Effect

probably damaging
Transcript: ENSMUST00000059056
AA Change: R157H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000062337
Gene: ENSMUSG00000035506
AA Change: R157H

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 damaging
Transcript: ENSMUST00000119173
AA Change: R126H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113633
Gene: ENSMUSG00000035506
AA Change: R126H

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 damaging
Transcript: ENSMUST00000121925
AA Change: R157H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000112439
Gene: ENSMUSG00000035506
AA Change: R157H

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 damaging
Transcript: ENSMUST00000122427
AA Change: R157H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113164
Gene: ENSMUSG00000035506
AA Change: R157H

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

Meta Mutation Damage Score

0.6329

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

99% (68/69)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921536K21Rik	T	A	11: 3,839,784 (GRCm39)		probably null	Het
Adora3	T	C	3: 105,815,039 (GRCm39)	V263A	probably benign	Het
Adprhl1	C	T	8: 13,298,682 (GRCm39)	V83I	probably damaging	Het
Arfgef1	A	G	1: 10,227,235 (GRCm39)	V1368A	possibly damaging	Het
Arid4a	A	T	12: 71,108,363 (GRCm39)	N56I	possibly damaging	Het
Art3	A	T	5: 92,551,472 (GRCm39)	Y277F	probably damaging	Het
Atp2a1	A	T	7: 126,047,707 (GRCm39)		probably null	Het
Banf1	T	C	19: 5,415,150 (GRCm39)	K54E	possibly damaging	Het
Bckdk	A	G	7: 127,505,073 (GRCm39)	Y151C	probably damaging	Het
C1qtnf3	C	A	15: 10,958,130 (GRCm39)	P58T	possibly damaging	Het
Cadps2	T	C	6: 23,390,445 (GRCm39)	R744G	probably benign	Het
Cdc25b	A	G	2: 131,031,029 (GRCm39)	D118G	probably damaging	Het
Cnot9	G	A	1: 74,566,151 (GRCm39)	V181I	probably damaging	Het
Cobl	C	T	11: 12,204,488 (GRCm39)	G738D	probably benign	Het
Col18a1	T	A	10: 76,904,220 (GRCm39)		probably null	Het
Crnkl1	A	G	2: 145,772,564 (GRCm39)	V171A	probably benign	Het
Dhx57	C	T	17: 80,580,507 (GRCm39)	D482N	possibly damaging	Het
Dpysl2	A	T	14: 67,066,425 (GRCm39)		probably null	Het
Drd3	G	T	16: 43,582,758 (GRCm39)	A52S	probably benign	Het
Dst	T	C	1: 34,220,469 (GRCm39)	V2091A	possibly damaging	Het
Evpl	T	C	11: 116,112,261 (GRCm39)	T1810A	probably benign	Het
Fbxo2	T	A	4: 148,248,783 (GRCm39)	W92R	probably damaging	Het
Gas2l2	T	A	11: 83,320,103 (GRCm39)	D51V	possibly damaging	Het
Gm11232	A	T	4: 71,674,818 (GRCm39)	V228E	possibly damaging	Het
Gm14305	C	T	2: 176,412,764 (GRCm39)	Q219*	probably null	Het
Gpr137b	T	C	13: 13,533,991 (GRCm39)	Y355C		Het
Gpr39	G	T	1: 125,605,334 (GRCm39)	M87I	possibly damaging	Het
Heatr1	T	C	13: 12,432,522 (GRCm39)	M1089T	probably benign	Het
Ifi206	A	T	1: 173,308,640 (GRCm39)	M452K		Het
Ints8	A	T	4: 11,227,190 (GRCm39)	I561N	probably damaging	Het
Itgb2	A	T	10: 77,396,946 (GRCm39)	K660N	probably benign	Het
Jun	A	C	4: 94,939,081 (GRCm39)	V143G	probably benign	Het
Kalrn	A	G	16: 33,851,952 (GRCm39)	M2076T	probably benign	Het
Krt10	G	T	11: 99,279,913 (GRCm39)	S82R	unknown	Het
Lipm	T	A	19: 34,095,291 (GRCm39)	H295Q	probably damaging	Het
Mybpc2	A	C	7: 44,165,348 (GRCm39)		probably null	Het
Nedd4	T	C	9: 72,584,608 (GRCm39)	V103A	possibly damaging	Het
Nol10	T	C	12: 17,398,586 (GRCm39)	I11T	probably damaging	Het
Nup210l	A	G	3: 90,067,233 (GRCm39)	S758G	probably damaging	Het
Or13d1	T	A	4: 52,970,713 (GRCm39)	C31S	probably damaging	Het
Or52r1c	T	G	7: 102,735,388 (GRCm39)	I216S	probably benign	Het
Or8d4	T	C	9: 40,038,661 (GRCm39)	I199V	probably benign	Het
Osbpl9	T	C	4: 108,923,384 (GRCm39)	H425R	probably damaging	Het
Parp1	G	T	1: 180,416,963 (GRCm39)	R582S	possibly damaging	Het
Piwil1	A	T	5: 128,816,527 (GRCm39)	R36S	probably benign	Het
Pjvk	T	C	2: 76,487,877 (GRCm39)		probably null	Het
Plekha6	G	T	1: 133,097,760 (GRCm39)	E31D	possibly damaging	Het
Polr1b	C	A	2: 128,967,464 (GRCm39)	F952L	probably damaging	Het
Prm3	CTCTTCTTCTTCTTC	CTCTTCTTCTTC	16: 10,608,565 (GRCm39)		probably benign	Het
Psmc6	T	A	14: 45,581,107 (GRCm39)	I301N	probably damaging	Het
Rfpl4	C	A	7: 5,118,543 (GRCm39)	S9I	probably benign	Het
Rnf14	G	T	18: 38,442,629 (GRCm39)	C310F	probably damaging	Het
Rnf17	T	A	14: 56,715,144 (GRCm39)	F845L	probably benign	Het
Robo2	T	C	16: 73,758,777 (GRCm39)	I665V	probably benign	Het
Rtl1	T	A	12: 109,559,619 (GRCm39)	H740L	probably damaging	Het
Ryr2	A	G	13: 11,765,897 (GRCm39)	S1280P	probably benign	Het
Slc9a1	T	C	4: 133,139,276 (GRCm39)	F165L	probably damaging	Het
Snx19	T	C	9: 30,340,221 (GRCm39)	I453T	probably damaging	Het
Spag17	T	C	3: 99,987,434 (GRCm39)	Y1575H	probably damaging	Het
Spef2	T	C	15: 9,704,567 (GRCm39)	I415M	probably damaging	Het
Ssx2ip	T	G	3: 146,138,885 (GRCm39)	I459S	probably damaging	Het
Stfa1	A	G	16: 36,097,363 (GRCm39)		probably null	Het
Tmem156	A	T	5: 65,237,517 (GRCm39)	S48T	probably damaging	Het
Tmx3	T	A	18: 90,545,918 (GRCm39)		probably null	Het
Unc93a	A	T	17: 13,328,639 (GRCm39)	F405I	possibly damaging	Het
Vmn1r209	T	A	13: 22,990,664 (GRCm39)	I9F	possibly damaging	Het
Vmn2r93	A	G	17: 18,533,482 (GRCm39)	D462G	probably damaging	Het
Wdr90	T	A	17: 26,080,465 (GRCm39)		probably benign	Het
Zfp551	T	C	7: 12,152,535 (GRCm39)	D66G	probably damaging	Het
Znrf4	A	C	17: 56,819,247 (GRCm39)	V20G	possibly damaging	Het
Zscan4d	T	C	7: 10,896,770 (GRCm39)	E200G	probably benign	Het
Zup1	A	T	10: 33,797,698 (GRCm39)		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
R6995:Slc12a8	UTSW	16	33,355,263 (GRCm39)	nonsense	probably null
R7602:Slc12a8	UTSW	16	33,445,494 (GRCm39)	missense	probably benign	0.00
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'- CAGACAGTGGAGGTATCACC -3'
(R):5'- AAAGCACTACACTCCAGGGG -3'

Sequencing Primer
(F):5'- ACTCCTCCCACAGTGCTGG -3'
(R):5'- TACACTCCAGGGGCTTACC -3'

Posted On

2019-11-26