Mutagenetix > Incidental Mutation

Incidental Mutation 'R7092:Slc12a4'

550292

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

045186-MU

Accession Numbers

Essential gene?

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

Stock #

R7092 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

106670222-106692729 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 106671855 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Aspartic acid at position 922 (A922D)

Ref Sequence

ENSEMBL: ENSMUSP00000034370 (fasta)

Gene Model

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

AlphaFold

Q9JIS8

Predicted Effect

probably damaging
Transcript: ENSMUST00000034370
AA Change: A922D

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

SMART Domains

Protein: ENSMUSP00000034370
Gene: ENSMUSG00000017765
AA Change: A922D

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

probably damaging
Transcript: ENSMUST00000116429
AA Change: A920D

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

SMART Domains

Protein: ENSMUSP00000112130
Gene: ENSMUSG00000017765
AA Change: A920D

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

99% (88/89)

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930579F01Rik	C	T	3: 137,889,506 (GRCm39)	C37Y	probably benign	Het
A430005L14Rik	T	A	4: 154,045,451 (GRCm39)		probably null	Het
Aadacl2fm3	T	C	3: 59,768,500 (GRCm39)	F10S	probably benign	Het
Abca4	C	G	3: 121,932,218 (GRCm39)	P1499A	probably damaging	Het
Adcy8	T	C	15: 64,743,619 (GRCm39)	N330D	possibly damaging	Het
Arfgef1	A	G	1: 10,223,901 (GRCm39)	Y1466H	probably damaging	Het
Asz1	A	C	6: 18,071,818 (GRCm39)		probably null	Het
Atad5	T	A	11: 80,011,546 (GRCm39)	N1307K	possibly damaging	Het
B4galnt4	C	A	7: 140,648,549 (GRCm39)	F688L	probably damaging	Het
Birc6	C	T	17: 74,953,740 (GRCm39)	T3349I	probably damaging	Het
Ccp110	C	A	7: 118,334,494 (GRCm39)	A989E	probably benign	Het
Ccser2	A	G	14: 36,662,612 (GRCm39)	S191P	probably benign	Het
Cdca2	A	G	14: 67,944,800 (GRCm39)		probably null	Het
Cdcp1	T	A	9: 123,012,678 (GRCm39)	T290S	probably benign	Het
Cep43	C	T	17: 8,391,802 (GRCm39)	P161S	probably benign	Het
Clec2m	T	A	6: 129,299,963 (GRCm39)	T172S	probably benign	Het
Cnnm1	T	C	19: 43,430,387 (GRCm39)	Y502H	probably damaging	Het
Cyba	T	G	8: 123,154,437 (GRCm39)	T29P	probably damaging	Het
Dcaf12	A	T	4: 41,301,366 (GRCm39)	I190N	probably damaging	Het
Depp1	C	A	6: 116,628,749 (GRCm39)	P31T	probably damaging	Het
Epha1	T	C	6: 42,341,179 (GRCm39)	T512A	probably benign	Het
Fancg	G	A	4: 43,004,831 (GRCm39)	P454L	probably benign	Het
Fasn	A	C	11: 120,710,946 (GRCm39)	V268G	possibly damaging	Het
Fip1l1	T	A	5: 74,697,504 (GRCm39)	L42Q	probably damaging	Het
Fjx1	A	G	2: 102,281,101 (GRCm39)	L278P	possibly damaging	Het
Fsd1	G	A	17: 56,300,876 (GRCm39)	R245H	probably damaging	Het
Fundc2b	T	A	3: 40,856,809 (GRCm39)	D22V	possibly damaging	Het
Gm1527	T	A	3: 28,968,696 (GRCm39)		probably null	Het
Gng3	T	A	19: 8,815,611 (GRCm39)	M42L	probably benign	Het
Gsdmc2	T	A	15: 63,696,947 (GRCm39)	Q408L	probably damaging	Het
Gtpbp3	T	A	8: 71,944,909 (GRCm39)	I388K	probably benign	Het
Hmcn1	A	T	1: 150,479,997 (GRCm39)	W4534R	probably damaging	Het
Inhca	G	A	9: 103,158,242 (GRCm39)	S106L	possibly damaging	Het
Ist1	A	T	8: 110,409,228 (GRCm39)		probably null	Het
Kifbp	C	A	10: 62,414,079 (GRCm39)	K26N	probably damaging	Het
Kyat3	T	C	3: 142,435,556 (GRCm39)	I276T	probably damaging	Het
Lipm	C	T	19: 34,098,758 (GRCm39)	P411S	possibly damaging	Het
Lipo3	T	C	19: 33,591,092 (GRCm39)		probably null	Het
Lrrc9	C	A	12: 72,510,238 (GRCm39)	Q446K	possibly damaging	Het
Mfsd4a	G	T	1: 131,995,401 (GRCm39)	T77N	probably benign	Het
Mmp1b	T	A	9: 7,386,981 (GRCm39)	D77V	probably damaging	Het
Mrgprb4	A	G	7: 47,847,984 (GRCm39)	S315P	probably benign	Het
Mroh2b	C	A	15: 4,964,160 (GRCm39)	N887K	possibly damaging	Het
Mto1	A	G	9: 78,377,955 (GRCm39)	K599R	probably benign	Het
Muc5ac	G	C	7: 141,363,424 (GRCm39)		probably benign	Het
Muc5ac	T	C	7: 141,363,385 (GRCm39)		probably benign	Het
Mylk2	A	G	2: 152,757,110 (GRCm39)	N295S	probably benign	Het
Nr1i3	G	A	1: 171,041,747 (GRCm39)		probably null	Het
Nup107	T	C	10: 117,626,399 (GRCm39)	K25E	probably damaging	Het
Odc1	G	A	12: 17,598,314 (GRCm39)	V152I	possibly damaging	Het
Or13a20	G	A	7: 140,232,150 (GRCm39)	G86D	probably benign	Het
Or1l4b	T	A	2: 37,036,623 (GRCm39)	M133K	probably damaging	Het
Or5m10b	A	T	2: 85,698,951 (GRCm39)	N5I	probably damaging	Het
Or7g16	G	A	9: 18,727,353 (GRCm39)	P79L	probably damaging	Het
Pde1b	G	T	15: 103,435,458 (GRCm39)	V438L	probably benign	Het
Pde4b	G	A	4: 102,459,048 (GRCm39)	V523M	probably damaging	Het
Pdgfc	C	T	3: 81,111,659 (GRCm39)	P205S	probably damaging	Het
Per2	A	G	1: 91,349,153 (GRCm39)	S1073P	probably damaging	Het
Plekhg5	C	T	4: 152,198,965 (GRCm39)	T1051I	probably damaging	Het
Ppme1	A	T	7: 100,021,029 (GRCm39)	M1K	probably null	Het
Prokr2	A	T	2: 132,223,236 (GRCm39)	V102D	possibly damaging	Het
Ptk2	G	A	15: 73,093,658 (GRCm39)	P854S	possibly damaging	Het
Ptprh	C	A	7: 4,583,860 (GRCm39)		probably null	Het
Rbsn	T	C	6: 92,166,607 (GRCm39)	N679S	probably damaging	Het
Rce1	T	C	19: 4,673,118 (GRCm39)	T303A	probably damaging	Het
Rnf123	C	A	9: 107,945,799 (GRCm39)	R329L	probably benign	Het
Robo2	T	A	16: 73,753,531 (GRCm39)	N782I	probably damaging	Het
Ror2	A	C	13: 53,264,272 (GRCm39)	V940G	probably benign	Het
Rpe65	C	T	3: 159,321,228 (GRCm39)	R347C	probably damaging	Het
Rrp8	A	T	7: 105,383,316 (GRCm39)	F317I	probably damaging	Het
Sidt1	A	G	16: 44,120,192 (GRCm39)	V163A	possibly damaging	Het
Sin3b	T	C	8: 73,474,498 (GRCm39)		probably null	Het
Slamf1	A	G	1: 171,604,757 (GRCm39)	T176A	probably benign	Het
Slco1a5	T	A	6: 142,194,401 (GRCm39)	Q414L	probably benign	Het
Snx11	C	A	11: 96,663,665 (GRCm39)	R58L	probably damaging	Het
Sp9	A	G	2: 73,104,115 (GRCm39)	D223G	probably damaging	Het
Sptbn1	T	C	11: 30,087,119 (GRCm39)	I1107V	possibly damaging	Het
Stap2	T	C	17: 56,309,954 (GRCm39)	R66G	probably benign	Het
Synrg	T	G	11: 83,899,683 (GRCm39)	F552V	possibly damaging	Het
Trim60	C	T	8: 65,453,700 (GRCm39)	R183H	probably benign	Het
Ttn	T	C	2: 76,733,760 (GRCm39)	D4505G	unknown	Het
Ubxn4	A	G	1: 128,179,959 (GRCm39)	I34M	probably benign	Het
Vac14	T	A	8: 111,442,128 (GRCm39)	M702K	probably damaging	Het
Vmn1r43	T	C	6: 89,846,885 (GRCm39)	I200M	probably benign	Het
Vmn2r108	T	A	17: 20,701,338 (GRCm39)	Y54F	probably benign	Het
Vps13b	T	C	15: 35,640,780 (GRCm39)	Y1382H	probably damaging	Het
Wdr72	T	C	9: 74,117,754 (GRCm39)	I834T	probably damaging	Het
Zfp970	T	A	2: 177,167,085 (GRCm39)	C220S	probably damaging	Het
Zkscan5	T	G	5: 145,156,899 (GRCm39)	I467S	probably benign	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
R0200:Slc12a4	UTSW	8	106,678,249 (GRCm39)	missense	probably benign	0.09
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
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'- CAGTTCTTTGTTAAAGACAGGCTGG -3'
(R):5'- AGGATCTGGCCATCTTCCTG -3'

Sequencing Primer
(F):5'- GTAGACTAGGCTAGCCTTGAACTC -3'
(R):5'- TGTATCACCTCCGCCTGGAAG -3'

Posted On

2019-05-15