Mutagenetix > Incidental Mutation

Incidental Mutation 'R0201:Slc12a4'

23645

Institutional Source

Beutler Lab

Gene Symbol

Slc12a4

Ensembl Gene

ENSMUSG00000017765

Gene Name

solute carrier family 12, member 4

Synonyms

KCC1, K-Cl Co-transporter-1

MMRRC Submission

038458-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.198) question?

Stock #

R0201 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

105943590-105966097 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 105945350 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 910 (V910A)

Ref Sequence

ENSEMBL: ENSMUSP00000112130 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034370] [ENSMUST00000038896] [ENSMUST00000116429]

AlphaFold

Q9JIS8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000034370
AA Change: V912A

PolyPhen 2 Score 0.794 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000034370
Gene: ENSMUSG00000017765
AA Change: V912A

Domain	Start	End	E-Value	Type
low complexity region	97	117	N/A	INTRINSIC
Pfam:AA_permease	125	318	5.8e-28	PFAM
Pfam:AA_permease	409	698	1.2e-40	PFAM
Pfam:SLC12	710	833	7.1e-18	PFAM
Pfam:SLC12	829	1087	4.8e-33	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000038896

SMART Domains

Protein: ENSMUSP00000038232
Gene: ENSMUSG00000035237

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Pfam:LCAT	81	414	1.7e-111	PFAM
low complexity region	425	437	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000116429
AA Change: V910A

PolyPhen 2 Score 0.794 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000112130
Gene: ENSMUSG00000017765
AA Change: V910A

Domain	Start	End	E-Value	Type
low complexity region	95	115	N/A	INTRINSIC
Pfam:AA_permease	123	309	7.7e-29	PFAM
Pfam:AA_permease_2	390	654	2.9e-17	PFAM
Pfam:AA_permease	404	696	4.4e-39	PFAM
Pfam:KCl_Cotrans_1	953	982	9.2e-21	PFAM
low complexity region	1065	1080	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141168

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141326

Meta Mutation Damage Score

0.3209

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 94.2%

Validation Efficiency

97% (91/94)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the SLC12A transporter family. The encoded protein mediates the coupled movement of potassium and chloride ions across the plasma membrane. This gene is expressed ubiquitously. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jan 2013]
PHENOTYPE: Mice homozygous for a constitutively active mutation display microcytosis and hypochromic anemia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamdec1	A	G	14: 68,581,957		probably null	Het
Adamts16	T	A	13: 70,779,644	Q492L	possibly damaging	Het
Aplnr	A	G	2: 85,137,177	D182G	probably damaging	Het
Arnt2	G	T	7: 84,361,659	S3*	probably null	Het
Asxl3	T	C	18: 22,523,154	V1407A	probably benign	Het
Atg13	A	T	2: 91,684,762		probably null	Het
Atm	A	T	9: 53,454,279		probably benign	Het
Birc6	T	G	17: 74,609,327	V1746G	possibly damaging	Het
Cbln1	G	T	8: 87,472,113	T43K	probably benign	Het
Cbx5	T	C	15: 103,199,700	T173A	probably damaging	Het
Cc2d2a	A	G	5: 43,737,512	Y1437C	probably damaging	Het
Ccdc78	C	A	17: 25,789,236		probably benign	Het
Cd2bp2	A	G	7: 127,193,828	Y341H	probably damaging	Het
Cdhr5	T	A	7: 141,276,378	D88V	probably damaging	Het
Ces1f	T	A	8: 93,267,329	T275S	probably null	Het
Clca4a	T	C	3: 144,960,717	N458S	probably benign	Het
Cog5	A	G	12: 31,839,841	K521R	probably damaging	Het
Csf2ra	T	A	19: 61,225,568	T305S	probably benign	Het
Csmd3	T	A	15: 47,619,729		probably benign	Het
Cts6	T	A	13: 61,201,499	R132*	probably null	Het
D5Ertd579e	G	T	5: 36,616,465	N195K	probably damaging	Het
Ddx1	A	G	12: 13,223,808	V606A	probably damaging	Het
Dip2b	G	A	15: 100,186,147	D884N	probably damaging	Het
Ehhadh	A	G	16: 21,773,493		probably null	Het
Enpp1	T	A	10: 24,653,917	T608S	probably benign	Het
Fancm	T	C	12: 65,101,632	Y674H	probably damaging	Het
Fat4	T	A	3: 38,891,596	V1546D	probably damaging	Het
Fsd1	G	A	17: 55,990,522	A158T	probably benign	Het
Fzd2	T	A	11: 102,606,122	M464K	probably damaging	Het
Gjc2	A	G	11: 59,177,590	F22S	possibly damaging	Het
Gm13101	T	C	4: 143,964,890	E421G	probably damaging	Het
Gria2	T	C	3: 80,707,838	Y445C	probably damaging	Het
Hsdl1	T	A	8: 119,566,256	I147F	possibly damaging	Het
Ifi44	T	C	3: 151,745,636	Y226C	probably damaging	Het
Il16	A	G	7: 83,722,308	C97R	probably damaging	Het
Impg1	A	T	9: 80,345,561	S369T	probably damaging	Het
Jmjd1c	A	G	10: 67,219,109	T390A	unknown	Het
Lgi1	A	G	19: 38,301,293	E269G	possibly damaging	Het
Lrp6	G	T	6: 134,450,897	Y1577*	probably null	Het
Lrrc74a	G	T	12: 86,761,773		probably benign	Het
Man1c1	A	T	4: 134,640,398		probably null	Het
Map1lc3b	A	C	8: 121,590,550	Q9P	possibly damaging	Het
Mboat1	G	A	13: 30,202,375	R124H	probably benign	Het
Mcu	A	G	10: 59,456,677	L60P	probably damaging	Het
Mrs2	G	T	13: 25,018,534	Q75K	probably benign	Het
Muc2	CGTG	CGTGTG	7: 141,699,185		probably null	Het
Neb	G	A	2: 52,206,878		probably benign	Het
Nlrp2	C	T	7: 5,328,329	G356D	probably benign	Het
Notch3	A	G	17: 32,156,148		probably benign	Het
Npr2	A	C	4: 43,641,617	S474R	probably damaging	Het
Nupl1	A	G	14: 60,244,616	F100L	probably benign	Het
Osbpl6	A	C	2: 76,546,042	D87A	possibly damaging	Het
Pabpc2	A	T	18: 39,775,307	M542L	probably benign	Het
Papln	A	G	12: 83,783,027		probably benign	Het
Parpbp	T	C	10: 88,092,896	I561V	possibly damaging	Het
Pcdhb13	C	T	18: 37,442,581	A4V	probably benign	Het
Pelp1	T	C	11: 70,395,704	T533A	possibly damaging	Het
Poldip3	T	A	15: 83,135,296	M182L	probably benign	Het
Por	T	C	5: 135,731,178	S240P	possibly damaging	Het
Pramef20	A	T	4: 144,377,273		probably benign	Het
Prss22	A	T	17: 23,996,301	V167D	probably damaging	Het
Prss37	A	C	6: 40,516,349	L61R	probably damaging	Het
Psmd1	C	T	1: 86,118,616	T702M	probably benign	Het
Pxdn	G	T	12: 30,002,431	G869V	possibly damaging	Het
Rabgap1l	A	G	1: 160,453,745		probably benign	Het
Rapgef6	T	C	11: 54,619,941	V228A	probably damaging	Het
Rnf169	T	C	7: 99,926,003	R462G	possibly damaging	Het
Rnft2	A	G	5: 118,194,680		probably benign	Het
Sgo2b	T	C	8: 63,926,636	D1054G	probably benign	Het
Sh3bgr	T	C	16: 96,228,517		probably benign	Het
Slc6a12	A	T	6: 121,355,372	I222F	probably benign	Het
Spty2d1	G	A	7: 46,997,901	R427*	probably null	Het
Ssc5d	A	G	7: 4,944,663	T1339A	probably benign	Het
Sspo	A	C	6: 48,455,752	E854A	possibly damaging	Het
Stx7	A	G	10: 24,185,079		probably benign	Het
Styk1	A	T	6: 131,301,730		probably benign	Het
Tex33	T	A	15: 78,378,828	M209L	probably damaging	Het
Tmem163	T	G	1: 127,668,637		probably benign	Het
Tmppe	C	CT	9: 114,404,639		probably null	Het
Tmx2	A	G	2: 84,673,082	V229A	probably benign	Het
Top2b	T	C	14: 16,383,174	L54P	probably damaging	Het
Trim62	A	T	4: 128,902,550	Y280F	probably benign	Het
Tssk4	A	T	14: 55,651,559	K181*	probably null	Het
Tssk4	A	T	14: 55,651,560	K181M	probably damaging	Het
Ubn1	A	G	16: 5,064,614	D313G	probably damaging	Het
Ugt1a10	C	T	1: 88,215,123	P113L	probably damaging	Het
Ugt1a10	C	T	1: 88,218,249	P473L	probably damaging	Het

Other mutations in Slc12a4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01471:Slc12a4	APN	8	105944089	missense	probably damaging	1.00
IGL01637:Slc12a4	APN	8	105960707	missense	possibly damaging	0.72
IGL01736:Slc12a4	APN	8	105945843	critical splice donor site	probably null
IGL01804:Slc12a4	APN	8	105944401	missense	probably damaging	1.00
IGL02000:Slc12a4	APN	8	105945232	missense	probably damaging	1.00
IGL02526:Slc12a4	APN	8	105949806	missense	possibly damaging	0.90
IGL03371:Slc12a4	APN	8	105950505	missense	probably null	0.99
IGL03385:Slc12a4	APN	8	105950864	unclassified	probably benign
ablution	UTSW	8	105945223	missense	probably damaging	1.00
custom	UTSW	8	105950836	missense	probably benign	0.00
Custom2	UTSW	8	105945244	critical splice acceptor site	probably null
custom3	UTSW	8	105949739	missense	probably damaging	1.00
PIT4810001:Slc12a4	UTSW	8	105951596	missense	probably benign	0.00
R0033:Slc12a4	UTSW	8	105947479	splice site	probably benign
R0200:Slc12a4	UTSW	8	105951617	missense	probably benign	0.09
R0270:Slc12a4	UTSW	8	105945389	missense	probably benign	0.10
R0389:Slc12a4	UTSW	8	105951967	missense	probably benign	0.00
R0432:Slc12a4	UTSW	8	105959488	missense	probably damaging	1.00
R0751:Slc12a4	UTSW	8	105951900	missense	probably damaging	1.00
R1717:Slc12a4	UTSW	8	105947571	splice site	probably null
R1792:Slc12a4	UTSW	8	105951843	missense	possibly damaging	0.91
R1940:Slc12a4	UTSW	8	105946037	missense	probably benign	0.29
R3115:Slc12a4	UTSW	8	105959459	missense	probably damaging	1.00
R4898:Slc12a4	UTSW	8	105944609	missense	probably damaging	1.00
R5182:Slc12a4	UTSW	8	105944606	missense	probably damaging	1.00
R5220:Slc12a4	UTSW	8	105953852	missense	probably damaging	1.00
R5283:Slc12a4	UTSW	8	105950694	critical splice donor site	probably null
R5367:Slc12a4	UTSW	8	105951634	missense	probably damaging	0.99
R5610:Slc12a4	UTSW	8	105950213	missense	possibly damaging	0.87
R5921:Slc12a4	UTSW	8	105945244	critical splice acceptor site	probably null
R6060:Slc12a4	UTSW	8	105945706	missense	probably damaging	1.00
R6182:Slc12a4	UTSW	8	105947899	missense	probably damaging	1.00
R6722:Slc12a4	UTSW	8	105944250	splice site	probably null
R6800:Slc12a4	UTSW	8	105949739	missense	probably damaging	1.00
R6956:Slc12a4	UTSW	8	105953852	missense	probably damaging	1.00
R7032:Slc12a4	UTSW	8	105949233	missense	probably damaging	1.00
R7092:Slc12a4	UTSW	8	105945223	missense	probably damaging	1.00
R7229:Slc12a4	UTSW	8	105946737	missense	probably benign	0.05
R7243:Slc12a4	UTSW	8	105953920	missense	probably damaging	1.00
R7323:Slc12a4	UTSW	8	105955715	missense	probably damaging	1.00
R7325:Slc12a4	UTSW	8	105955715	missense	probably damaging	1.00
R7327:Slc12a4	UTSW	8	105955715	missense	probably damaging	1.00
R7426:Slc12a4	UTSW	8	105950836	missense	probably benign	0.00
R7569:Slc12a4	UTSW	8	105945847	missense	probably damaging	1.00
R7710:Slc12a4	UTSW	8	105945571	missense	possibly damaging	0.95
R7968:Slc12a4	UTSW	8	105951605	missense	possibly damaging	0.94
R7970:Slc12a4	UTSW	8	105951605	missense	possibly damaging	0.94
R7971:Slc12a4	UTSW	8	105951605	missense	possibly damaging	0.94
R7972:Slc12a4	UTSW	8	105951605	missense	possibly damaging	0.94
R7973:Slc12a4	UTSW	8	105951605	missense	possibly damaging	0.94
R8221:Slc12a4	UTSW	8	105951969	missense	probably benign	0.00
R8386:Slc12a4	UTSW	8	105951618	missense	probably damaging	1.00
R8393:Slc12a4	UTSW	8	105951819	missense	probably damaging	0.99
R8751:Slc12a4	UTSW	8	105949653	critical splice donor site	probably null
R8786:Slc12a4	UTSW	8	105953917	missense	probably damaging	1.00
R8792:Slc12a4	UTSW	8	105946758	missense	probably damaging	1.00
R8941:Slc12a4	UTSW	8	105946690	critical splice donor site	probably null
R8965:Slc12a4	UTSW	8	105945350	missense	possibly damaging	0.79
R9100:Slc12a4	UTSW	8	105949142	missense	probably benign	0.30
R9113:Slc12a4	UTSW	8	105944352	missense	probably benign	0.09
X0019:Slc12a4	UTSW	8	105944352	missense	probably damaging	0.98
Z1177:Slc12a4	UTSW	8	105946732	missense	probably benign	0.31

Predicted Primers

PCR Primer
(F):5'- ATCTGAGACCGCTGCTCCATCATC -3'
(R):5'- TTTCTGCTGCGCCAGCATAAGG -3'

Sequencing Primer
(F):5'- CATCAGTGTCCGCTCATAGGTATAG -3'
(R):5'- GGTGTGGGCAAGGGCAG -3'

Posted On

2013-04-16