Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01471:Slc12a4'

88265

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc12a4

Ensembl Gene

ENSMUSG00000017765

Gene Name

solute carrier family 12, member 4

Synonyms

K-Cl Co-transporter-1, KCC1

Accession Numbers

Essential gene?

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

Stock #

IGL01471

Quality Score

Status

Chromosome

Chromosomal Location

106670222-106692729 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 106670721 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 1084 (Y1084C)

Ref Sequence

ENSEMBL: ENSMUSP00000112130 (fasta)

Gene Model

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

AlphaFold

Q9JIS8

Predicted Effect

probably damaging
Transcript: ENSMUST00000034370
AA Change: Y1086C

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

SMART Domains

Protein: ENSMUSP00000034370
Gene: ENSMUSG00000017765
AA Change: Y1086C

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: Y1084C

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

SMART Domains

Protein: ENSMUSP00000112130
Gene: ENSMUSG00000017765
AA Change: Y1084C

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

Coding Region Coverage

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: 10 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cacna1b	A	G	2: 24,547,304 (GRCm39)	S1226P	probably damaging	Het
Cdx2	A	G	5: 147,240,059 (GRCm39)	F206L	probably benign	Het
Cldn1	T	A	16: 26,190,322 (GRCm39)	I19F	possibly damaging	Het
Inpp5f	T	C	7: 128,277,122 (GRCm39)	V406A	probably damaging	Het
Ly6m	A	G	15: 74,751,749 (GRCm39)	V95A	probably benign	Het
Myh4	C	T	11: 67,146,205 (GRCm39)	T1421M	probably damaging	Het
Pard3	A	G	8: 128,104,727 (GRCm39)	T490A	probably benign	Het
Rnf138	G	A	18: 21,157,578 (GRCm39)		probably null	Het
Sppl2a	A	T	2: 126,759,787 (GRCm39)	L48*	probably null	Het
Trp53	C	A	11: 69,479,349 (GRCm39)	H173N	probably damaging	Het

Other mutations in Slc12a4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2013-11-18