Mutagenetix > Incidental Mutation

Incidental Mutation 'R5186:Slc12a8'

397914

Institutional Source

Beutler Lab

Gene Symbol

Slc12a8

Ensembl Gene

ENSMUSG00000035506

Gene Name

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

Synonyms

MMRRC Submission

042765-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5186 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

33517328-33664135 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 33617208 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 337 (I337T)

Ref Sequence

ENSEMBL: ENSMUSP00000113164 (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: I337T

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

SMART Domains

Protein: ENSMUSP00000062337
Gene: ENSMUSG00000035506
AA Change: I337T

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: I91T

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

SMART Domains

Protein: ENSMUSP00000112925
Gene: ENSMUSG00000035506
AA Change: I91T

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 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 damaging
Transcript: ENSMUST00000121925
AA Change: I337T

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

SMART Domains

Protein: ENSMUSP00000112439
Gene: ENSMUSG00000035506
AA Change: I337T

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: I91T

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

SMART Domains

Protein: ENSMUSP00000113901
Gene: ENSMUSG00000035506
AA Change: I91T

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 damaging
Transcript: ENSMUST00000122427
AA Change: I337T

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

SMART Domains

Protein: ENSMUSP00000113164
Gene: ENSMUSG00000035506
AA Change: I337T

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149291

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.0%

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700014D04Rik	A	T	13: 59,743,739 (GRCm38)	L89H	probably damaging	Het
Abca8a	T	C	11: 110,091,599 (GRCm38)	I6V	probably null	Het
Aox1	A	G	1: 58,068,370 (GRCm38)	D601G	probably damaging	Het
Asic1	GCACC	GCACCACC	15: 99,698,803 (GRCm38)		probably benign	Het
Cacna1g	T	G	11: 94,442,848 (GRCm38)	N931T	probably damaging	Het
Ccdc14	T	C	16: 34,721,585 (GRCm38)	F511L	probably damaging	Het
Cd177	T	A	7: 24,744,923 (GRCm38)	E710V	probably benign	Het
Cep112	T	C	11: 108,752,560 (GRCm38)	C49R	probably benign	Het
Clip2	G	A	5: 134,522,791 (GRCm38)	T159M	possibly damaging	Het
Dnah2	T	C	11: 69,435,884 (GRCm38)	N3575S	probably damaging	Het
Dnah6	T	A	6: 73,067,427 (GRCm38)	I3234F	probably damaging	Het
Eci3	G	T	13: 34,946,978 (GRCm38)	A302E	possibly damaging	Het
Fam204a	T	C	19: 60,199,989 (GRCm38)	K214E	probably damaging	Het
Fam78a	T	C	2: 32,082,654 (GRCm38)	T85A	possibly damaging	Het
Flnb	T	C	14: 7,909,748 (GRCm38)	Y1401H	probably damaging	Het
Foxl2	A	T	9: 98,956,055 (GRCm38)	D132V	probably damaging	Het
Frs2	C	A	10: 117,078,842 (GRCm38)	W57C	probably damaging	Het
Gm26558	G	T	2: 70,661,417 (GRCm38)		probably benign	Het
Gpr139	A	G	7: 119,144,840 (GRCm38)	V174A	probably benign	Het
Grik5	T	C	7: 25,015,819 (GRCm38)	T676A	probably damaging	Het
H60c	T	C	10: 3,259,273 (GRCm38)		probably null	Het
Hspa1l	A	G	17: 34,978,469 (GRCm38)	K495E	probably damaging	Het
Irgm1	C	T	11: 48,866,217 (GRCm38)	V256I	probably benign	Het
Kat7	T	A	11: 95,286,416 (GRCm38)	T293S	probably benign	Het
Lipg	C	T	18: 74,960,938 (GRCm38)	V13I	probably benign	Het
Lrrn1	A	T	6: 107,569,224 (GRCm38)	Y661F	probably damaging	Het
Mllt3	A	G	4: 87,840,995 (GRCm38)	V272A	probably benign	Het
Mx1	G	A	16: 97,455,494 (GRCm38)	R162C	probably benign	Het
Myo18b	T	A	5: 112,871,470 (GRCm38)	D647V	probably damaging	Het
Naf1	G	A	8: 66,879,646 (GRCm38)	V329I	probably benign	Het
Olfr1286	A	T	2: 111,420,774 (GRCm38)	M59K	probably damaging	Het
Olfr654	A	T	7: 104,588,211 (GRCm38)	I153F	probably damaging	Het
Olfr936	A	T	9: 39,046,969 (GRCm38)	C194*	probably null	Het
P2rx5	G	A	11: 73,171,790 (GRCm38)	V442M	possibly damaging	Het
Pcdhb9	A	G	18: 37,401,232 (GRCm38)	E93G	probably damaging	Het
Pcdhga4	A	T	18: 37,687,426 (GRCm38)	N676I	probably benign	Het
Pgm5	A	G	19: 24,820,128 (GRCm38)	M230T	probably damaging	Het
Pik3c2g	T	C	6: 139,622,018 (GRCm38)	V44A	probably damaging	Het
Pp2d1	T	C	17: 53,508,140 (GRCm38)	M519V	probably benign	Het
Ppp1r10	A	G	17: 35,928,511 (GRCm38)	E404G	probably damaging	Het
Prpf8	A	T	11: 75,489,783 (GRCm38)	E104V	possibly damaging	Het
Ptpa	T	C	2: 30,438,355 (GRCm38)		probably null	Het
Pygl	A	C	12: 70,201,344 (GRCm38)	N248K	probably damaging	Het
Rbm8a	A	G	3: 96,630,932 (GRCm38)	D102G	probably damaging	Het
Sema3d	A	G	5: 12,584,908 (GRCm38)	D647G	probably benign	Het
Serpinb11	A	T	1: 107,379,754 (GRCm38)	D305V	probably damaging	Het
Slc29a2	G	A	19: 5,028,967 (GRCm38)	R286Q	probably benign	Het
Slc2a3	T	A	6: 122,735,583 (GRCm38)	D234V	probably damaging	Het
Slco4a1	T	C	2: 180,473,108 (GRCm38)	V608A	probably damaging	Het
Srrm2	C	T	17: 23,816,587 (GRCm38)	T831I	probably benign	Het
St18	T	A	1: 6,802,317 (GRCm38)		probably null	Het
Tesk2	G	C	4: 116,741,896 (GRCm38)	G67A	probably damaging	Het
Tlr1	A	T	5: 64,925,221 (GRCm38)	L671H	probably damaging	Het
Tmem63b	A	T	17: 45,661,477 (GRCm38)	Y735N	possibly damaging	Het
Tmprss11a	C	T	5: 86,420,079 (GRCm38)	C263Y	probably damaging	Het
Trio	A	T	15: 27,897,991 (GRCm38)	V345E	probably damaging	Het
Ubr5	A	G	15: 37,997,916 (GRCm38)	S1674P	probably damaging	Het
Uchl3	T	A	14: 101,695,917 (GRCm38)	C209S	probably damaging	Het
Uhmk1	T	C	1: 170,211,167 (GRCm38)	N206S	probably damaging	Het
Uhrf1	C	T	17: 56,318,340 (GRCm38)	R588W	probably damaging	Het
Usp28	T	C	9: 49,010,250 (GRCm38)	V256A	probably damaging	Het
Utrn	C	A	10: 12,728,777 (GRCm38)	L552F	probably damaging	Het
Vmn1r55	A	T	7: 5,146,986 (GRCm38)	M146K	probably damaging	Het
Vmn1r57	A	C	7: 5,221,108 (GRCm38)	I211L	probably benign	Het
Zar1	C	T	5: 72,577,399 (GRCm38)	C316Y	probably damaging	Het
Zc3h11a	A	T	1: 133,621,674 (GRCm38)	S750T	probably damaging	Het
Zcchc6	A	G	13: 59,816,656 (GRCm38)		probably null	Het
Zfp366	G	A	13: 99,246,168 (GRCm38)	C613Y	probably benign	Het
Zfp37	A	T	4: 62,191,256 (GRCm38)	C524S	probably damaging	Het
Zfp516	T	C	18: 82,957,093 (GRCm38)	V472A	probably benign	Het
Zhx1	A	T	15: 58,052,423 (GRCm38)	M809K	probably damaging	Het
Zic1	T	C	9: 91,364,371 (GRCm38)	Y216C	probably damaging	Het

Other mutations in Slc12a8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00938:Slc12a8	APN	16	33,540,897 (GRCm38)	missense	probably damaging	1.00
IGL01701:Slc12a8	APN	16	33,540,910 (GRCm38)	missense	probably damaging	1.00
IGL02024:Slc12a8	APN	16	33,608,198 (GRCm38)	missense	probably damaging	1.00
IGL02223:Slc12a8	APN	16	33,624,690 (GRCm38)	missense	probably damaging	1.00
IGL02637:Slc12a8	APN	16	33,534,960 (GRCm38)	missense	probably benign	0.05
IGL03248:Slc12a8	APN	16	33,551,027 (GRCm38)	missense	probably damaging	1.00
R0136:Slc12a8	UTSW	16	33,608,213 (GRCm38)	missense	probably damaging	1.00
R0436:Slc12a8	UTSW	16	33,551,085 (GRCm38)	missense	probably damaging	1.00
R0586:Slc12a8	UTSW	16	33,658,230 (GRCm38)	missense	possibly damaging	0.87
R0669:Slc12a8	UTSW	16	33,550,904 (GRCm38)	missense	possibly damaging	0.91
R0780:Slc12a8	UTSW	16	33,646,665 (GRCm38)	splice site	probably null
R1170:Slc12a8	UTSW	16	33,662,977 (GRCm38)	missense	probably damaging	1.00
R1383:Slc12a8	UTSW	16	33,534,987 (GRCm38)	missense	probably damaging	1.00
R1707:Slc12a8	UTSW	16	33,551,007 (GRCm38)	missense	probably damaging	1.00
R2917:Slc12a8	UTSW	16	33,550,926 (GRCm38)	missense	probably damaging	1.00
R4092:Slc12a8	UTSW	16	33,617,121 (GRCm38)	missense	probably damaging	1.00
R4532:Slc12a8	UTSW	16	33,551,033 (GRCm38)	missense	probably damaging	1.00
R4604:Slc12a8	UTSW	16	33,608,159 (GRCm38)	missense	probably damaging	1.00
R4638:Slc12a8	UTSW	16	33,590,323 (GRCm38)	missense	possibly damaging	0.95
R4908:Slc12a8	UTSW	16	33,606,259 (GRCm38)	splice site	probably null
R5148:Slc12a8	UTSW	16	33,624,918 (GRCm38)	missense	probably benign	0.00
R5711:Slc12a8	UTSW	16	33,590,309 (GRCm38)	missense	probably damaging	1.00
R5760:Slc12a8	UTSW	16	33,624,785 (GRCm38)	nonsense	probably null
R6122:Slc12a8	UTSW	16	33,625,014 (GRCm38)	missense	probably damaging	0.99
R6592:Slc12a8	UTSW	16	33,617,256 (GRCm38)	critical splice donor site	probably null
R6995:Slc12a8	UTSW	16	33,534,893 (GRCm38)	nonsense	probably null
R7602:Slc12a8	UTSW	16	33,625,124 (GRCm38)	missense	probably benign	0.00
R7772:Slc12a8	UTSW	16	33,550,965 (GRCm38)	missense	probably damaging	1.00
R7849:Slc12a8	UTSW	16	33,624,560 (GRCm38)	missense	probably damaging	1.00
R8022:Slc12a8	UTSW	16	33,625,086 (GRCm38)	missense	probably benign	0.01
R8293:Slc12a8	UTSW	16	33,540,978 (GRCm38)	missense	probably benign	0.07
R8345:Slc12a8	UTSW	16	33,550,951 (GRCm38)	missense	probably benign	0.02
R8765:Slc12a8	UTSW	16	33,518,361 (GRCm38)	missense	possibly damaging	0.87
R9022:Slc12a8	UTSW	16	33,646,564 (GRCm38)	missense	probably benign	0.00
R9027:Slc12a8	UTSW	16	33,624,845 (GRCm38)	missense	probably benign	0.00
R9180:Slc12a8	UTSW	16	33,541,027 (GRCm38)	missense	probably damaging	1.00
R9384:Slc12a8	UTSW	16	33,646,577 (GRCm38)	missense	probably benign
Z1176:Slc12a8	UTSW	16	33,606,173 (GRCm38)	missense	possibly damaging	0.95
Z1176:Slc12a8	UTSW	16	33,540,965 (GRCm38)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- TAATTTGTCCTGTGTAACCCAGAC -3'
(R):5'- TAGCCTAACACACCCAGGGATG -3'

Sequencing Primer
(F):5'- AGACACAGGGGCCACTG -3'
(R):5'- TGGGACTGAAAGGTACAACTTCCAC -3'

Posted On

2016-07-06