Mutagenetix > Incidental Mutation

Incidental Mutation 'R0586:Slc12a8'

55786

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

038776-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0586 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

33337698-33484505 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 33478600 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Arginine at position 643 (M643R)

Ref Sequence

ENSEMBL: ENSMUSP00000112439 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059056] [ENSMUST00000117134] [ENSMUST00000119173] [ENSMUST00000121925] [ENSMUST00000122314] [ENSMUST00000122427]

AlphaFold

Q8VI23

Predicted Effect

possibly damaging
Transcript: ENSMUST00000059056
AA Change: M643R

PolyPhen 2 Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000062337
Gene: ENSMUSG00000035506
AA Change: M643R

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

possibly damaging
Transcript: ENSMUST00000117134
AA Change: M397R

PolyPhen 2 Score 0.656 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000112925
Gene: ENSMUSG00000035506
AA Change: M397R

Domain	Start	End	E-Value	Type
Pfam:AA_permease	1	163	3.5e-22	PFAM
low complexity region	235	250	N/A	INTRINSIC
transmembrane domain	339	361	N/A	INTRINSIC
transmembrane domain	366	388	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000119173
AA Change: M563R

PolyPhen 2 Score 0.783 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000113633
Gene: ENSMUSG00000035506
AA Change: M563R

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

possibly damaging
Transcript: ENSMUST00000121925
AA Change: M643R

PolyPhen 2 Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000112439
Gene: ENSMUSG00000035506
AA Change: M643R

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

possibly damaging
Transcript: ENSMUST00000122314
AA Change: M397R

PolyPhen 2 Score 0.656 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000113901
Gene: ENSMUSG00000035506
AA Change: M397R

Domain	Start	End	E-Value	Type
Pfam:AA_permease	1	163	3.3e-22	PFAM
low complexity region	235	250	N/A	INTRINSIC
transmembrane domain	339	361	N/A	INTRINSIC
transmembrane domain	366	388	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000122427

SMART Domains

Protein: ENSMUSP00000113164
Gene: ENSMUSG00000035506

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

0.5938

Coding Region Coverage

1x: 99.7%
3x: 99.1%
10x: 97.5%
20x: 94.4%

Validation Efficiency

100% (74/74)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	A	T	4: 53,092,860 (GRCm39)	V308E	probably benign	Het
Amy1	A	G	3: 113,356,418 (GRCm39)		probably benign	Het
Astn2	C	T	4: 66,103,379 (GRCm39)	V345M	unknown	Het
Brwd1	T	C	16: 95,844,286 (GRCm39)	E756G	probably damaging	Het
Ccpg1	C	T	9: 72,909,103 (GRCm39)	L135F	probably benign	Het
Cecr2	C	T	6: 120,734,845 (GRCm39)	H694Y	probably damaging	Het
Cfh	G	A	1: 140,110,920 (GRCm39)	T14I	probably damaging	Het
Cfhr2	G	A	1: 139,741,172 (GRCm39)	R268*	probably null	Het
Clca3a1	T	A	3: 144,738,350 (GRCm39)	I53L	probably benign	Het
Clcn6	A	G	4: 148,123,206 (GRCm39)		probably benign	Het
Cnfn	C	T	7: 25,067,256 (GRCm39)	V98I	probably benign	Het
Cntnap1	C	T	11: 101,077,840 (GRCm39)	R1122W	probably damaging	Het
Cpne9	A	T	6: 113,272,024 (GRCm39)	E384V	probably damaging	Het
Ctr9	T	C	7: 110,648,705 (GRCm39)		probably benign	Het
Ctsj	T	A	13: 61,151,515 (GRCm39)		probably benign	Het
Cyp2c39	A	C	19: 39,501,934 (GRCm39)		probably benign	Het
Dock5	A	C	14: 68,046,481 (GRCm39)	I767S	probably damaging	Het
Eftud2	T	C	11: 102,737,446 (GRCm39)	T552A	probably damaging	Het
Epdr1	A	G	13: 19,778,715 (GRCm39)	I25T	probably damaging	Het
Fcgbp	A	T	7: 27,789,138 (GRCm39)	D568V	probably damaging	Het
Fcgbpl1	T	A	7: 27,836,516 (GRCm39)	V145D	probably damaging	Het
Fhip1b	T	C	7: 105,038,654 (GRCm39)	E195G	probably damaging	Het
Frem2	T	A	3: 53,555,342 (GRCm39)	T1732S	probably damaging	Het
Fuz	T	C	7: 44,547,982 (GRCm39)	V183A	possibly damaging	Het
Grb7	T	C	11: 98,344,046 (GRCm39)	S284P	probably damaging	Het
Hoxb4	G	T	11: 96,209,713 (GRCm39)	G40C	probably damaging	Het
Kcnn1	T	C	8: 71,316,513 (GRCm39)		probably benign	Het
Kmt2d	C	A	15: 98,733,088 (GRCm39)		probably benign	Het
L3mbtl3	A	G	10: 26,203,732 (GRCm39)	V366A	unknown	Het
Ldlr	G	A	9: 21,651,040 (GRCm39)	R486H	probably benign	Het
Lnpep	A	T	17: 17,795,658 (GRCm39)		probably benign	Het
Mical3	A	T	6: 121,006,602 (GRCm39)		probably benign	Het
Myh15	T	C	16: 48,992,250 (GRCm39)		probably benign	Het
Nup155	T	A	15: 8,159,716 (GRCm39)	H542Q	probably benign	Het
Opn4	A	G	14: 34,320,930 (GRCm39)		probably benign	Het
Or13a20	T	C	7: 140,231,976 (GRCm39)	F28S	probably benign	Het
Or4a68	T	A	2: 89,269,698 (GRCm39)	R308S	possibly damaging	Het
Or6c68	A	G	10: 129,157,916 (GRCm39)	I141M	probably benign	Het
Or8g4	A	T	9: 39,662,414 (GRCm39)	H244L	probably damaging	Het
Or8h10	T	C	2: 86,809,126 (GRCm39)	N5D	probably damaging	Het
Pak3	TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	X: 142,526,889 (GRCm39)		probably benign	Het
Parp14	T	C	16: 35,661,382 (GRCm39)	K1522R	probably benign	Het
Pkhd1	A	T	1: 20,594,335 (GRCm39)	D1259E	probably benign	Het
Pogz	C	T	3: 94,786,664 (GRCm39)	A1084V	probably damaging	Het
Popdc3	G	A	10: 45,191,359 (GRCm39)	V157M	probably benign	Het
Prrt4	T	C	6: 29,171,183 (GRCm39)	Y423C	probably damaging	Het
Qrich1	C	T	9: 108,411,719 (GRCm39)	H415Y	probably damaging	Het
Rabgap1	A	G	2: 37,433,235 (GRCm39)	N801D	probably benign	Het
Rb1	A	G	14: 73,525,124 (GRCm39)		probably benign	Het
Rp1	A	T	1: 4,418,060 (GRCm39)	N1017K	possibly damaging	Het
Ryr2	T	C	13: 11,650,445 (GRCm39)	D356G	probably null	Het
Skint8	C	G	4: 111,794,126 (GRCm39)	P172R	probably damaging	Het
Sult1c2	A	T	17: 54,271,113 (GRCm39)		probably benign	Het
Tasor2	A	G	13: 3,640,321 (GRCm39)	L272P	probably damaging	Het
Tcaf1	T	A	6: 42,650,473 (GRCm39)	M869L	probably damaging	Het
Tecpr1	T	C	5: 144,154,219 (GRCm39)	N78S	probably damaging	Het
Tectb	A	T	19: 55,170,356 (GRCm39)	Y69F	probably damaging	Het
Them4	A	T	3: 94,237,101 (GRCm39)	N187I	possibly damaging	Het
Tm9sf3	A	G	19: 41,244,582 (GRCm39)		probably null	Het
Tnik	G	T	3: 28,631,510 (GRCm39)		probably benign	Het
Tns2	G	T	15: 102,018,020 (GRCm39)		probably benign	Het
Tnxb	A	G	17: 34,891,118 (GRCm39)	D487G	probably damaging	Het
Trim33	T	A	3: 103,217,660 (GRCm39)	C202S	probably damaging	Het
Trpm2	T	A	10: 77,759,350 (GRCm39)	I1145F	probably damaging	Het
Trpv2	A	G	11: 62,483,596 (GRCm39)	T478A	probably benign	Het
Ube2e3	T	C	2: 78,750,334 (GRCm39)	Y187H	probably benign	Het
Ubxn11	A	G	4: 133,836,963 (GRCm39)	R64G	possibly damaging	Het
Wwtr1	T	C	3: 57,366,487 (GRCm39)	T407A	probably damaging	Het
Zfyve26	A	T	12: 79,315,502 (GRCm39)	S1325T	possibly damaging	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
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
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'- CCAGGCTGTAAGAGAGTGAGTGTTG -3'
(R):5'- GACATGAACTGGGTACTGAGTGTGG -3'

Sequencing Primer
(F):5'- GGAACAGTGTGCTTGTTCTG -3'
(R):5'- AGCAAGGGCCATGCACTG -3'

Posted On

2013-07-11