Mutagenetix > Incidental Mutation

Incidental Mutation 'R8345:Slc12a8'

645203

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

067801-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8345 (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 33371321 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 121 (D121E)

Ref Sequence

ENSEMBL: ENSMUSP00000113633 (fasta)

Gene Model

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

AlphaFold

Q8VI23

Predicted Effect

probably benign
Transcript: ENSMUST00000059056
AA Change: D152E

PolyPhen 2 Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000062337
Gene: ENSMUSG00000035506
AA Change: D152E

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
AA Change: D121E

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000113633
Gene: ENSMUSG00000035506
AA Change: D121E

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 benign
Transcript: ENSMUST00000121925
AA Change: D152E

PolyPhen 2 Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000112439
Gene: ENSMUSG00000035506
AA Change: D152E

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 benign
Transcript: ENSMUST00000122427
AA Change: D152E

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000113164
Gene: ENSMUSG00000035506
AA Change: D152E

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: 98.5%

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsf3	T	C	8: 123,508,284 (GRCm39)	V260A	probably benign	Het
Adgrv1	T	C	13: 81,251,505 (GRCm39)	D6204G	probably damaging	Het
Ago3	T	A	4: 126,270,721 (GRCm39)	K258*	probably null	Het
Aspm	T	G	1: 139,392,011 (GRCm39)	Y787*	probably null	Het
Atp8b5	A	C	4: 43,291,714 (GRCm39)	D29A	probably benign	Het
Bdh2	A	T	3: 135,001,013 (GRCm39)	I128F	probably damaging	Het
Bmper	T	A	9: 23,136,126 (GRCm39)	M69K	probably benign	Het
Ccdc7a	C	T	8: 129,525,245 (GRCm39)	M1415I	probably benign	Het
Ccpg1	G	A	9: 72,913,001 (GRCm39)	R179H	probably damaging	Het
Cdc23	G	A	18: 34,767,150 (GRCm39)	T564I	probably benign	Het
Cemip	T	A	7: 83,591,373 (GRCm39)		probably null	Het
Cfap65	C	T	1: 74,967,203 (GRCm39)	G249R	probably benign	Het
Clec2m	T	A	6: 129,302,593 (GRCm39)	N145Y	probably damaging	Het
Cpsf1	T	A	15: 76,485,690 (GRCm39)	T435S	probably benign	Het
Dennd5a	T	C	7: 109,504,477 (GRCm39)	T879A	possibly damaging	Het
Diaph3	G	A	14: 87,066,529 (GRCm39)	Q955*	probably null	Het
Disp2	G	A	2: 118,641,284 (GRCm39)	V298M	unknown	Het
Dnah1	C	A	14: 30,986,551 (GRCm39)	D3671Y	probably damaging	Het
Dnmt3a	T	C	12: 3,885,234 (GRCm39)	S13P	unknown	Het
Eci3	G	A	13: 35,132,164 (GRCm39)	T228I	probably damaging	Het
Ecm2	T	C	13: 49,674,276 (GRCm39)	L232P	probably benign	Het
Ednra	G	A	8: 78,415,813 (GRCm39)	R145C	probably damaging	Het
Faap100	G	T	11: 120,267,856 (GRCm39)	H306N	possibly damaging	Het
Fam8a1	T	A	13: 46,827,054 (GRCm39)	I275K	probably damaging	Het
Fat3	C	A	9: 15,910,570 (GRCm39)	V1811L	probably benign	Het
Fbn2	C	T	18: 58,191,503 (GRCm39)	C1540Y	probably damaging	Het
Fcgbpl1	G	A	7: 27,854,785 (GRCm39)	V1804M	probably damaging	Het
Ffar3	A	G	7: 30,554,789 (GRCm39)	L177P	probably damaging	Het
Fmnl1	A	G	11: 103,077,440 (GRCm39)	T267A	possibly damaging	Het
Fsip1	T	C	2: 118,070,952 (GRCm39)	E246G	probably damaging	Het
Gemin4	A	G	11: 76,101,605 (GRCm39)	L1052P	probably damaging	Het
Gp2	C	T	7: 119,042,010 (GRCm39)	C505Y	probably benign	Het
Grm5	A	T	7: 87,723,746 (GRCm39)	I679F	probably damaging	Het
Hapln1	A	T	13: 89,732,902 (GRCm39)	D21V	probably benign	Het
Jak2	T	C	19: 29,262,270 (GRCm39)	S364P	probably damaging	Het
Kansl3	A	G	1: 36,387,897 (GRCm39)		probably null	Het
Kntc1	T	C	5: 123,924,993 (GRCm39)	L1102S	probably benign	Het
Mbd3l2	A	G	9: 18,355,779 (GRCm39)	I35V	probably benign	Het
Mdfic	G	T	6: 15,799,653 (GRCm39)	C260F	probably damaging	Het
Mroh2b	T	C	15: 4,973,808 (GRCm39)	S1109P	probably benign	Het
Myocd	A	T	11: 65,077,958 (GRCm39)	C612*	probably null	Het
Or4b13	A	T	2: 90,082,561 (GRCm39)	M257K	possibly damaging	Het
Or4c102	A	G	2: 88,422,435 (GRCm39)	M96V	probably benign	Het
Or4f17-ps1	T	A	2: 111,357,864 (GRCm39)	C86*	probably null	Het
Or52h7	T	A	7: 104,213,431 (GRCm39)	M1K	probably null	Het
Or5w22	A	T	2: 87,362,691 (GRCm39)	T105S	probably benign	Het
Or8k21	A	T	2: 86,145,451 (GRCm39)	Y60N	probably damaging	Het
Pard3	C	T	8: 128,050,549 (GRCm39)	R204W	probably damaging	Het
Per1	T	A	11: 68,998,382 (GRCm39)	N1031K	possibly damaging	Het
Plekhh3	A	G	11: 101,055,105 (GRCm39)	S583P	unknown	Het
Pramel12	C	T	4: 143,143,438 (GRCm39)	T68I	probably benign	Het
Prex2	T	A	1: 11,270,118 (GRCm39)	C1268S	possibly damaging	Het
Prpf6	T	C	2: 181,291,951 (GRCm39)	I756T	probably benign	Het
Pum2	T	C	12: 8,759,454 (GRCm39)	V98A	probably damaging	Het
Rad50	A	T	11: 53,574,968 (GRCm39)	S652T	probably benign	Het
Rfng	G	T	11: 120,674,901 (GRCm39)	P30T	unknown	Het
Rfx7	T	C	9: 72,524,973 (GRCm39)	I721T	probably benign	Het
Rpf1	G	T	3: 146,213,431 (GRCm39)	T240K	probably benign	Het
Ryr3	T	C	2: 112,483,270 (GRCm39)	N4189S	probably benign	Het
Samd15	G	C	12: 87,248,212 (GRCm39)	R299T	probably benign	Het
Scn3a	A	G	2: 65,329,335 (GRCm39)	M765T	possibly damaging	Het
Scn9a	G	A	2: 66,324,966 (GRCm39)	S1396L	probably damaging	Het
Sec24a	C	T	11: 51,634,605 (GRCm39)	R107Q	probably benign	Het
Sema4b	T	A	7: 79,870,567 (GRCm39)	V505E	probably damaging	Het
Siglec1	T	A	2: 130,920,498 (GRCm39)	T769S	possibly damaging	Het
Sit1	T	C	4: 43,483,168 (GRCm39)	E69G	possibly damaging	Het
Slc30a10	A	T	1: 185,187,664 (GRCm39)	Q135L	probably benign	Het
Suox	A	G	10: 128,507,200 (GRCm39)	V276A	probably benign	Het
Tbc1d9b	A	G	11: 50,040,659 (GRCm39)	D392G	probably damaging	Het
Tmed5	A	G	5: 108,273,823 (GRCm39)	W139R	probably damaging	Het
Tnks1bp1	C	T	2: 84,893,226 (GRCm39)	T389I	possibly damaging	Het
Vmn1r65	A	T	7: 6,011,256 (GRCm39)	I326K	probably benign	Het
Vmn2r43	A	G	7: 8,256,601 (GRCm39)	S421P	possibly damaging	Het
Vmn2r57	A	T	7: 41,076,968 (GRCm39)	N399K	possibly damaging	Het
Vmn2r90	T	A	17: 17,933,127 (GRCm39)	L229*	probably null	Het
Vwf	A	T	6: 125,656,265 (GRCm39)	D2610V		Het
Zfp646	C	T	7: 127,483,082 (GRCm39)	S1753L	probably benign	Het
Zfy2	C	A	Y: 2,107,096 (GRCm39)	V513F	possibly damaging	Het
Zranb2	A	T	3: 157,251,731 (GRCm39)	I317F	unknown	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
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
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

2020-09-02