Mutagenetix > Incidental Mutation

Incidental Mutation 'R0200:Slc12a4'

23574

Institutional Source

Beutler Lab

Gene Symbol

Slc12a4

Ensembl Gene

ENSMUSG00000017765

Gene Name

solute carrier family 12, member 4

Synonyms

K-Cl Co-transporter-1, KCC1

MMRRC Submission

038457-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.260) question?

Stock #

R0200 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

106670222-106692729 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 106678249 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 315 (R315G)

Ref Sequence

ENSEMBL: ENSMUSP00000034370 (fasta)

Gene Model

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

AlphaFold

Q9JIS8

Predicted Effect

probably benign
Transcript: ENSMUST00000034370
AA Change: R315G

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000034370
Gene: ENSMUSG00000017765
AA Change: R315G

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: ENSMUST00000116429
AA Change: R313G

PolyPhen 2 Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000112130
Gene: ENSMUSG00000017765
AA Change: R313G

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

probably benign
Transcript: ENSMUST00000132231

SMART Domains

Protein: ENSMUSP00000121018
Gene: ENSMUSG00000017765

Domain	Start	End	E-Value	Type
low complexity region	66	86	N/A	INTRINSIC
Pfam:AA_permease	94	171	1.3e-19	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141326

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183884

Coding Region Coverage

1x: 98.8%
3x: 97.8%
10x: 94.7%
20x: 86.2%

Validation Efficiency

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatf	T	C	11: 84,336,502 (GRCm39)	K466E	probably damaging	Het
Abcc3	T	C	11: 94,245,900 (GRCm39)	D1245G	probably damaging	Het
Adam12	T	C	7: 133,576,145 (GRCm39)		probably null	Het
Akap11	A	G	14: 78,748,193 (GRCm39)	V1398A	probably benign	Het
Ank1	T	G	8: 23,586,828 (GRCm39)	L461R	probably damaging	Het
Ankfn1	T	C	11: 89,332,792 (GRCm39)	S402G	possibly damaging	Het
Arhgef40	A	C	14: 52,234,431 (GRCm39)	E911D	probably damaging	Het
Atp2b1	C	T	10: 98,815,676 (GRCm39)	Q107*	probably null	Het
Cacng3	T	A	7: 122,271,008 (GRCm39)	C4*	probably null	Het
Cds1	G	A	5: 101,962,299 (GRCm39)	V305M	probably damaging	Het
Cecr2	T	G	6: 120,738,758 (GRCm39)	F1162V	probably damaging	Het
Cfap70	A	T	14: 20,498,631 (GRCm39)	Y19N	probably damaging	Het
Chrm5	A	G	2: 112,311,065 (GRCm39)	V17A	probably benign	Het
Col20a1	T	C	2: 180,642,231 (GRCm39)	I714T	probably damaging	Het
Cpeb2	T	A	5: 43,419,119 (GRCm39)	M156K	possibly damaging	Het
Cstdc6	T	C	16: 36,143,386 (GRCm39)		probably null	Het
Defb25	C	A	2: 152,464,332 (GRCm39)	V71L	probably benign	Het
Dhx35	A	T	2: 158,671,543 (GRCm39)	M325L	probably benign	Het
Dhx57	A	T	17: 80,558,902 (GRCm39)	L1019H	probably damaging	Het
Dnah6	T	A	6: 73,046,403 (GRCm39)	D3195V	probably damaging	Het
Dph5	A	G	3: 115,722,352 (GRCm39)	S277G	probably benign	Het
Dpm1	C	A	2: 168,065,075 (GRCm39)		probably null	Het
Dsg1a	A	T	18: 20,473,995 (GRCm39)	M1023L	probably benign	Het
Egf	A	G	3: 129,499,882 (GRCm39)	Y252H	probably benign	Het
Egf	A	G	3: 129,531,198 (GRCm39)	S126P	probably damaging	Het
Enam	T	C	5: 88,640,886 (GRCm39)	W183R	possibly damaging	Het
Foxn1	T	C	11: 78,251,866 (GRCm39)	Y455C	probably damaging	Het
Iars1	A	T	13: 49,879,678 (GRCm39)	D983V	possibly damaging	Het
Ikzf4	C	A	10: 128,470,545 (GRCm39)	G325V	probably damaging	Het
Il1rl1	T	A	1: 40,480,463 (GRCm39)	W31R	possibly damaging	Het
Ip6k3	C	T	17: 27,363,999 (GRCm39)	D350N	probably damaging	Het
Irgc	T	C	7: 24,131,431 (GRCm39)	D462G	probably benign	Het
Itprid1	T	C	6: 55,874,941 (GRCm39)	L297P	probably benign	Het
Jph3	A	G	8: 122,511,572 (GRCm39)	E520G	probably benign	Het
Kcna2	T	A	3: 107,012,476 (GRCm39)	D352E	probably benign	Het
Klk4	T	A	7: 43,534,785 (GRCm39)	I248N	probably damaging	Het
Krtap16-1	T	C	11: 99,876,123 (GRCm39)	Y427C	probably damaging	Het
Lgr4	A	G	2: 109,801,035 (GRCm39)		probably null	Het
Lhpp	C	T	7: 132,212,406 (GRCm39)		probably benign	Het
Lypd3	T	A	7: 24,339,656 (GRCm39)	V241D	probably damaging	Het
Lyz2	T	A	10: 117,116,678 (GRCm39)	N57Y	possibly damaging	Het
Man1a	A	G	10: 53,950,594 (GRCm39)	V176A	probably damaging	Het
Mcm4	G	A	16: 15,447,503 (GRCm39)	T487I	probably benign	Het
Mettl21c	T	A	1: 44,052,814 (GRCm39)	I68F	probably damaging	Het
Miip	T	A	4: 147,946,720 (GRCm39)	T313S	probably damaging	Het
Minar2	A	G	18: 59,195,531 (GRCm39)		probably null	Het
Mog	A	T	17: 37,323,311 (GRCm39)	I209K	probably damaging	Het
Myo1c	C	A	11: 75,563,008 (GRCm39)	D997E	probably benign	Het
Npc1	T	C	18: 12,352,261 (GRCm39)	Y146C	probably damaging	Het
Nploc4	A	G	11: 120,304,507 (GRCm39)	L238P	probably damaging	Het
Opa1	A	G	16: 29,432,947 (GRCm39)	N544S	probably benign	Het
Or2j6	T	C	7: 139,980,788 (GRCm39)	Y57C	probably damaging	Het
Or2v1	T	A	11: 49,025,874 (GRCm39)	M285K	probably damaging	Het
Or6k6	T	C	1: 173,945,078 (GRCm39)	H168R	probably benign	Het
Pam	C	T	1: 97,822,126 (GRCm39)		probably null	Het
Pdgfra	T	C	5: 75,324,438 (GRCm39)	Y98H	probably damaging	Het
Plcz1	C	T	6: 139,936,459 (GRCm39)	R590H	probably damaging	Het
Plxdc1	T	C	11: 97,824,838 (GRCm39)	Y339C	probably damaging	Het
Plxna1	T	C	6: 89,300,575 (GRCm39)	N1583S	probably damaging	Het
Plxna4	C	T	6: 32,174,023 (GRCm39)	V1191M	probably damaging	Het
Polk	T	A	13: 96,633,330 (GRCm39)	N238Y	probably benign	Het
Ptprq	T	C	10: 107,521,018 (GRCm39)	N718S	probably benign	Het
Rsrc1	A	T	3: 67,088,194 (GRCm39)	H176L	probably damaging	Het
Sbno1	T	C	5: 124,522,604 (GRCm39)	D1072G	probably damaging	Het
Scmh1	A	G	4: 120,341,028 (GRCm39)	K238R	probably damaging	Het
Senp7	A	G	16: 55,944,236 (GRCm39)	T187A	possibly damaging	Het
Slc16a10	A	G	10: 39,916,612 (GRCm39)	V430A	probably benign	Het
Slc26a7	T	C	4: 14,621,317 (GRCm39)	D23G	probably benign	Het
Slc28a2b	T	A	2: 122,357,928 (GRCm39)	*661R	probably null	Het
Slc7a7	A	G	14: 54,615,259 (GRCm39)	L246P	probably damaging	Het
Spata7	T	A	12: 98,629,428 (GRCm39)	S332T	probably benign	Het
Spsb1	A	G	4: 149,982,673 (GRCm39)	*274R	probably null	Het
Sspo	T	G	6: 48,463,349 (GRCm39)	V3767G	probably null	Het
Syt10	C	A	15: 89,711,144 (GRCm39)	A130S	probably benign	Het
Tgm6	T	A	2: 129,994,865 (GRCm39)		probably null	Het
Them7	A	C	2: 105,128,262 (GRCm39)	N81T	probably damaging	Het
Tinag	C	A	9: 76,859,217 (GRCm39)	A464S	probably damaging	Het
Tmem217	T	G	17: 29,745,284 (GRCm39)	I149L	probably benign	Het
Trp53rkb	T	G	2: 166,637,603 (GRCm39)	D186E	probably damaging	Het
Vmn1r20	T	C	6: 57,409,084 (GRCm39)	Y137H	probably damaging	Het
Vmn1r60	T	A	7: 5,547,379 (GRCm39)	L240F	probably benign	Het
Vmn1r64	A	G	7: 5,886,817 (GRCm39)	M242T	probably benign	Het
Xkr4	T	C	1: 3,740,886 (GRCm39)	N229S	probably benign	Het
Zcchc2	T	A	1: 105,931,853 (GRCm39)	L352M	probably damaging	Het
Zfp217	C	T	2: 169,957,382 (GRCm39)	A539T	probably benign	Het
Zfp638	T	C	6: 83,944,336 (GRCm39)	L1018P	probably damaging	Het

Other mutations in Slc12a4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01471:Slc12a4	APN	8	106,670,721 (GRCm39)	missense	probably damaging	1.00
IGL01637:Slc12a4	APN	8	106,687,339 (GRCm39)	missense	possibly damaging	0.72
IGL01736:Slc12a4	APN	8	106,672,475 (GRCm39)	critical splice donor site	probably null
IGL01804:Slc12a4	APN	8	106,671,033 (GRCm39)	missense	probably damaging	1.00
IGL02000:Slc12a4	APN	8	106,671,864 (GRCm39)	missense	probably damaging	1.00
IGL02526:Slc12a4	APN	8	106,676,438 (GRCm39)	missense	possibly damaging	0.90
IGL03371:Slc12a4	APN	8	106,677,137 (GRCm39)	missense	probably null	0.99
IGL03385:Slc12a4	APN	8	106,677,496 (GRCm39)	unclassified	probably benign
ablution	UTSW	8	106,671,855 (GRCm39)	missense	probably damaging	1.00
custom	UTSW	8	106,677,468 (GRCm39)	missense	probably benign	0.00
Custom2	UTSW	8	106,671,876 (GRCm39)	critical splice acceptor site	probably null
custom3	UTSW	8	106,676,371 (GRCm39)	missense	probably damaging	1.00
PIT4810001:Slc12a4	UTSW	8	106,678,228 (GRCm39)	missense	probably benign	0.00
R0033:Slc12a4	UTSW	8	106,674,111 (GRCm39)	splice site	probably benign
R0201:Slc12a4	UTSW	8	106,671,982 (GRCm39)	missense	possibly damaging	0.79
R0270:Slc12a4	UTSW	8	106,672,021 (GRCm39)	missense	probably benign	0.10
R0389:Slc12a4	UTSW	8	106,678,599 (GRCm39)	missense	probably benign	0.00
R0432:Slc12a4	UTSW	8	106,686,120 (GRCm39)	missense	probably damaging	1.00
R0751:Slc12a4	UTSW	8	106,678,532 (GRCm39)	missense	probably damaging	1.00
R1717:Slc12a4	UTSW	8	106,674,203 (GRCm39)	splice site	probably null
R1792:Slc12a4	UTSW	8	106,678,475 (GRCm39)	missense	possibly damaging	0.91
R1940:Slc12a4	UTSW	8	106,672,669 (GRCm39)	missense	probably benign	0.29
R3115:Slc12a4	UTSW	8	106,686,091 (GRCm39)	missense	probably damaging	1.00
R4898:Slc12a4	UTSW	8	106,671,241 (GRCm39)	missense	probably damaging	1.00
R5182:Slc12a4	UTSW	8	106,671,238 (GRCm39)	missense	probably damaging	1.00
R5220:Slc12a4	UTSW	8	106,680,484 (GRCm39)	missense	probably damaging	1.00
R5283:Slc12a4	UTSW	8	106,677,326 (GRCm39)	critical splice donor site	probably null
R5367:Slc12a4	UTSW	8	106,678,266 (GRCm39)	missense	probably damaging	0.99
R5610:Slc12a4	UTSW	8	106,676,845 (GRCm39)	missense	possibly damaging	0.87
R5921:Slc12a4	UTSW	8	106,671,876 (GRCm39)	critical splice acceptor site	probably null
R6060:Slc12a4	UTSW	8	106,672,338 (GRCm39)	missense	probably damaging	1.00
R6182:Slc12a4	UTSW	8	106,674,531 (GRCm39)	missense	probably damaging	1.00
R6722:Slc12a4	UTSW	8	106,670,882 (GRCm39)	splice site	probably null
R6800:Slc12a4	UTSW	8	106,676,371 (GRCm39)	missense	probably damaging	1.00
R6956:Slc12a4	UTSW	8	106,680,484 (GRCm39)	missense	probably damaging	1.00
R7032:Slc12a4	UTSW	8	106,675,865 (GRCm39)	missense	probably damaging	1.00
R7092:Slc12a4	UTSW	8	106,671,855 (GRCm39)	missense	probably damaging	1.00
R7229:Slc12a4	UTSW	8	106,673,369 (GRCm39)	missense	probably benign	0.05
R7243:Slc12a4	UTSW	8	106,680,552 (GRCm39)	missense	probably damaging	1.00
R7323:Slc12a4	UTSW	8	106,682,347 (GRCm39)	missense	probably damaging	1.00
R7325:Slc12a4	UTSW	8	106,682,347 (GRCm39)	missense	probably damaging	1.00
R7327:Slc12a4	UTSW	8	106,682,347 (GRCm39)	missense	probably damaging	1.00
R7426:Slc12a4	UTSW	8	106,677,468 (GRCm39)	missense	probably benign	0.00
R7569:Slc12a4	UTSW	8	106,672,479 (GRCm39)	missense	probably damaging	1.00
R7710:Slc12a4	UTSW	8	106,672,203 (GRCm39)	missense	possibly damaging	0.95
R7968:Slc12a4	UTSW	8	106,678,237 (GRCm39)	missense	possibly damaging	0.94
R7970:Slc12a4	UTSW	8	106,678,237 (GRCm39)	missense	possibly damaging	0.94
R7971:Slc12a4	UTSW	8	106,678,237 (GRCm39)	missense	possibly damaging	0.94
R7972:Slc12a4	UTSW	8	106,678,237 (GRCm39)	missense	possibly damaging	0.94
R7973:Slc12a4	UTSW	8	106,678,237 (GRCm39)	missense	possibly damaging	0.94
R8221:Slc12a4	UTSW	8	106,678,601 (GRCm39)	missense	probably benign	0.00
R8386:Slc12a4	UTSW	8	106,678,250 (GRCm39)	missense	probably damaging	1.00
R8393:Slc12a4	UTSW	8	106,678,451 (GRCm39)	missense	probably damaging	0.99
R8751:Slc12a4	UTSW	8	106,676,285 (GRCm39)	critical splice donor site	probably null
R8786:Slc12a4	UTSW	8	106,680,549 (GRCm39)	missense	probably damaging	1.00
R8792:Slc12a4	UTSW	8	106,673,390 (GRCm39)	missense	probably damaging	1.00
R8941:Slc12a4	UTSW	8	106,673,322 (GRCm39)	critical splice donor site	probably null
R8965:Slc12a4	UTSW	8	106,671,982 (GRCm39)	missense	possibly damaging	0.79
R9100:Slc12a4	UTSW	8	106,675,774 (GRCm39)	missense	probably benign	0.30
R9113:Slc12a4	UTSW	8	106,670,984 (GRCm39)	missense	probably benign	0.09
X0019:Slc12a4	UTSW	8	106,670,984 (GRCm39)	missense	probably damaging	0.98
Z1177:Slc12a4	UTSW	8	106,673,364 (GRCm39)	missense	probably benign	0.31

Predicted Primers

PCR Primer
(F):5'- CATTGTTGAGCAGGAAGTAGGGGTC -3'
(R):5'- TGTCGGTGTCAAGTACGTGAACAAG -3'

Sequencing Primer
(F):5'- TAGGGGTCACAGGAGTCAGC -3'
(R):5'- GAGGCATCAAGTCCATTTTTGACC -3'

Posted On

2013-04-16