Mutagenetix > Incidental Mutation

Incidental Mutation 'R7849:Slc12a8'

606844

Institutional Source

Beutler Lab

Gene Symbol

Slc12a8

Ensembl Gene

ENSMUSG00000035506

Gene Name

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

Synonyms

E330020C02Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7849 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

33337698-33484505 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 33444930 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Threonine at position 275 (P275T)

Ref Sequence

ENSEMBL: ENSMUSP00000113633 (fasta)

Gene Model

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

AlphaFold

Q8VI23

Predicted Effect

probably damaging
Transcript: ENSMUST00000059056
AA Change: P355T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000062337
Gene: ENSMUSG00000035506
AA Change: P355T

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: ENSMUST00000117134
AA Change: P109T

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

SMART Domains

Protein: ENSMUSP00000112925
Gene: ENSMUSG00000035506
AA Change: P109T

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

probably damaging
Transcript: ENSMUST00000119173
AA Change: P275T

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

SMART Domains

Protein: ENSMUSP00000113633
Gene: ENSMUSG00000035506
AA Change: P275T

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: P355T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000112439
Gene: ENSMUSG00000035506
AA Change: P355T

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: ENSMUST00000122314
AA Change: P109T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000113901
Gene: ENSMUSG00000035506
AA Change: P109T

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agap1	T	C	1: 89,558,141 (GRCm39)	V143A	probably damaging	Het
Agmo	A	G	12: 37,292,044 (GRCm39)	R2G	probably benign	Het
Alms1	A	T	6: 85,598,479 (GRCm39)	I1102L	possibly damaging	Het
Ankrd13a	T	C	5: 114,929,343 (GRCm39)	I140T	possibly damaging	Het
Arhgef10l	T	A	4: 140,311,245 (GRCm39)		probably null	Het
Atxn2l	A	T	7: 126,092,345 (GRCm39)	H967Q	possibly damaging	Het
B3galnt2	A	T	13: 14,169,077 (GRCm39)	N370I	probably benign	Het
Bltp1	T	A	3: 37,080,477 (GRCm39)	I325N		Het
Cacna1e	C	T	1: 154,509,464 (GRCm39)	D264N	probably damaging	Het
Ccdc112	A	T	18: 46,429,390 (GRCm39)	Y103N	probably benign	Het
Ccdc68	A	C	18: 70,080,246 (GRCm39)	E197A	probably damaging	Het
Cdr1	AAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCC	AAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCC	X: 60,228,130 (GRCm39)		probably benign	Het
Cntn3	T	C	6: 102,242,392 (GRCm39)	M418V	probably benign	Het
Cpne4	T	A	9: 104,563,718 (GRCm39)	C32S	probably damaging	Het
Csf2rb2	A	T	15: 78,168,621 (GRCm39)	S845T	probably benign	Het
Ctnnd2	T	G	15: 31,027,733 (GRCm39)	V1219G	probably damaging	Het
Cyp4f14	G	A	17: 33,128,325 (GRCm39)	A230V	probably benign	Het
Cyth1	TGGGCAA	T	11: 118,074,749 (GRCm39)		probably null	Het
Dmxl1	T	A	18: 50,094,214 (GRCm39)	C2897S	probably benign	Het
Elavl2	T	A	4: 91,260,280 (GRCm39)		probably benign	Het
Elp1	A	T	4: 56,758,968 (GRCm39)	S1191T	possibly damaging	Het
Fam135a	T	C	1: 24,083,331 (GRCm39)	E298G	probably damaging	Het
Fbn1	A	T	2: 125,151,405 (GRCm39)	I2534N	probably damaging	Het
Fibin	A	G	2: 110,192,825 (GRCm39)	S106P	probably damaging	Het
Fndc3a	C	T	14: 72,802,100 (GRCm39)	V568M	probably benign	Het
Frem2	A	G	3: 53,479,795 (GRCm39)	F1966S	probably damaging	Het
Gata4	T	G	14: 63,442,174 (GRCm39)	E216A	possibly damaging	Het
Gmps	T	A	3: 63,922,984 (GRCm39)	V649E	probably benign	Het
Golga4	A	T	9: 118,388,379 (GRCm39)	N1834Y	possibly damaging	Het
Gpr89	A	T	3: 96,778,806 (GRCm39)	Y422*	probably null	Het
Gzmc	A	T	14: 56,469,829 (GRCm39)	F157Y	probably benign	Het
Hdhd2	A	G	18: 77,052,962 (GRCm39)	D204G	probably damaging	Het
Hspa4	T	G	11: 53,171,530 (GRCm39)	T225P	possibly damaging	Het
Klhl30	T	A	1: 91,287,059 (GRCm39)	D448E	probably benign	Het
Kptn	A	G	7: 15,853,966 (GRCm39)	Y28C	probably damaging	Het
Krt10	A	T	11: 99,278,432 (GRCm39)	N242K	probably damaging	Het
Krt6b	A	T	15: 101,587,009 (GRCm39)	N254K	probably damaging	Het
Lama5	G	T	2: 179,843,605 (GRCm39)	D447E	probably damaging	Het
Lgr6	T	C	1: 134,915,419 (GRCm39)	Y720C	probably damaging	Het
Macf1	G	C	4: 123,301,392 (GRCm39)	P1037A	probably benign	Het
Map3k19	C	T	1: 127,751,383 (GRCm39)	G656D	probably benign	Het
Mroh7	A	C	4: 106,578,287 (GRCm39)	N130K	probably benign	Het
Muc16	T	C	9: 18,551,801 (GRCm39)	T4831A	probably benign	Het
Nfkb1	A	T	3: 135,291,173 (GRCm39)	L533H		Het
Oaf	G	A	9: 43,134,077 (GRCm39)	R215C	probably damaging	Het
Or4x11	A	G	2: 89,867,626 (GRCm39)	Y121C	probably damaging	Het
Or51k1	C	A	7: 103,661,510 (GRCm39)	R133L	possibly damaging	Het
Or5m3b	G	A	2: 85,871,949 (GRCm39)	V97I	probably benign	Het
Or8a1	A	G	9: 37,642,003 (GRCm39)	I92T	probably damaging	Het
Or8g2b	A	G	9: 39,751,618 (GRCm39)	D296G	possibly damaging	Het
Otub1	T	C	19: 7,177,425 (GRCm39)	D74G	probably damaging	Het
Oxct2b	A	G	4: 123,010,680 (GRCm39)	E200G	probably damaging	Het
Pcdh1	T	C	18: 38,322,662 (GRCm39)	D1057G	probably benign	Het
Pkd1	T	A	17: 24,805,174 (GRCm39)	V3242E	probably damaging	Het
Pkd1l3	CCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACACAGGTGACATCAGACACACCTGCATCCAATAGCCCACCACAGGGGACATCAGACACACCTGGATTCAGCAGCCCAACACAGGTGACAACAGCCACACTTGTATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACATCTGCATCCATCAGCCCACCACAGGTAATATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACA	CCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACACAGGTGACATCAGACACACCTGCATCCAATAGCCCACCACAGGGGACATCAGACACACCTGGATTCAGCAGCCCAACACAGGTGACAACAGCCACACTTGTATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACATCTGCATCCATCAGCCCACCACAGGTAATATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACA	8: 110,350,420 (GRCm39)		probably benign	Het
Pla2g4e	T	A	2: 120,015,803 (GRCm39)	D247V	probably benign	Het
Pole	T	A	5: 110,480,414 (GRCm39)	M1995K	probably benign	Het
Ppargc1a	T	C	5: 51,705,855 (GRCm39)	E76G	probably benign	Het
Pten	G	T	19: 32,777,396 (GRCm39)	R130L	probably damaging	Het
Ptprj	A	T	2: 90,274,804 (GRCm39)	V1186D	probably damaging	Het
Rab4a	T	A	8: 124,532,876 (GRCm39)	M1K	probably null	Het
Rapgef3	C	A	15: 97,656,271 (GRCm39)		probably null	Het
Rarb	C	A	14: 16,548,473 (GRCm38)	V83F	probably damaging	Het
Rgs22	A	T	15: 36,099,858 (GRCm39)	F410I	probably damaging	Het
Rhpn2	A	C	7: 35,080,912 (GRCm39)	E459A	probably benign	Het
Rims4	A	T	2: 163,705,974 (GRCm39)	L220Q	probably damaging	Het
Robo2	T	C	16: 73,770,132 (GRCm39)	T531A	possibly damaging	Het
Sbf2	T	C	7: 109,971,717 (GRCm39)	H839R	probably damaging	Het
Setbp1	T	C	18: 78,900,068 (GRCm39)	R1200G	probably benign	Het
Slc23a1	G	T	18: 35,757,554 (GRCm39)	T239N	probably benign	Het
Slc37a3	T	A	6: 39,341,517 (GRCm39)	T40S	possibly damaging	Het
Speer4c1	T	C	5: 15,915,925 (GRCm39)		probably null	Het
Tet1	A	T	10: 62,655,252 (GRCm39)	H1556Q	possibly damaging	Het
Tfcp2l1	T	A	1: 118,603,325 (GRCm39)	D454E	probably damaging	Het
Timd6	T	A	11: 46,468,058 (GRCm39)	I44K	not run	Het
Tmem123	A	T	9: 7,790,890 (GRCm39)	M64L	probably benign	Het
Tmem62	A	T	2: 120,814,853 (GRCm39)	H172L	probably benign	Het
Trim15	T	G	17: 37,177,764 (GRCm39)	Y77S	probably benign	Het
Trim37	T	A	11: 87,092,270 (GRCm39)	V693E	possibly damaging	Het
Trim65	A	G	11: 116,017,082 (GRCm39)	L460S	probably damaging	Het
Ttc39a	T	C	4: 109,279,687 (GRCm39)	V109A	probably benign	Het
Ttc7	A	G	17: 87,600,374 (GRCm39)	M163V	probably null	Het
Vps13b	T	C	15: 35,423,378 (GRCm39)	S233P	probably damaging	Het
Vwf	T	C	6: 125,633,766 (GRCm39)	L2084P		Het
Wasl	A	G	6: 24,633,922 (GRCm39)	V114A	possibly damaging	Het
Wdr5	A	G	2: 27,409,463 (GRCm39)	S62G	probably damaging	Het
Wfdc11	G	T	2: 164,507,445 (GRCm39)	S4*	probably null	Het
Wfikkn2	C	A	11: 94,129,810 (GRCm39)	M110I	probably benign	Het
Wiz	T	G	17: 32,576,760 (GRCm39)	E588A	probably benign	Het
Xylt1	A	G	7: 117,255,891 (GRCm39)	H821R	probably benign	Het
Zbtb7c	A	T	18: 76,278,772 (GRCm39)	H410L	probably benign	Het
Zc3h18	T	A	8: 123,110,710 (GRCm39)	D186E	probably damaging	Het
Zfp687	G	T	3: 94,917,673 (GRCm39)	L700I	possibly damaging	Het
Zmym2	T	A	14: 57,184,020 (GRCm39)	M994K	probably benign	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
R7772:Slc12a8	UTSW	16	33,371,335 (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'- ATTGACCCCATGAGTTGGC -3'
(R):5'- CAGAGTATCTGGGCCTTGTCTG -3'

Sequencing Primer
(F):5'- ACCCCATGAGTTGGCTATTATTTTTC -3'
(R):5'- CTGGGCCTTGTCTGGGGAC -3'

Posted On

2019-12-20