Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01829:Slc12a9'

154738

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc12a9

Ensembl Gene

ENSMUSG00000037344

Gene Name

solute carrier family 12 (potassium/chloride transporters), member 9

Synonyms

CIP1

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.424) question?

Stock #

IGL01829

Quality Score

Status

Chromosome

Chromosomal Location

137312820-137331859 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 137325627 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000038106 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039991]

AlphaFold

Q99MR3

Predicted Effect

probably benign
Transcript: ENSMUST00000039991

SMART Domains

Protein: ENSMUSP00000038106
Gene: ENSMUSG00000037344

Domain	Start	End	E-Value	Type
Pfam:AA_permease	42	536	1.8e-114	PFAM
Pfam:SLC12	545	639	4.6e-13	PFAM
low complexity region	804	817	N/A	INTRINSIC
low complexity region	845	866	N/A	INTRINSIC
low complexity region	871	888	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141517

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149847

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bod1l	A	G	5: 41,977,811 (GRCm39)	S1168P	probably benign	Het
Csn1s2a	A	T	5: 87,934,569 (GRCm39)	T173S	unknown	Het
Dchs1	T	A	7: 105,404,604 (GRCm39)	D2646V	probably damaging	Het
Dennd4a	C	T	9: 64,749,843 (GRCm39)	R145*	probably null	Het
Dnah7a	G	T	1: 53,657,227 (GRCm39)	R850S	possibly damaging	Het
Dock2	T	C	11: 34,596,668 (GRCm39)	D396G	probably damaging	Het
E2f7	A	G	10: 110,614,955 (GRCm39)	Y553C	probably benign	Het
Elf2	A	G	3: 51,215,521 (GRCm39)	M63T	probably damaging	Het
Hydin	A	C	8: 111,316,154 (GRCm39)	T4349P	possibly damaging	Het
Kcnk13	T	A	12: 100,027,257 (GRCm39)		probably benign	Het
Nr1h5	T	A	3: 102,856,395 (GRCm39)	I295L	probably benign	Het
Or9s23	A	T	1: 92,501,051 (GRCm39)	I53F	probably benign	Het
Ptprk	A	G	10: 28,449,383 (GRCm39)	H986R	probably damaging	Het
Rufy1	T	A	11: 50,307,071 (GRCm39)	R300*	probably null	Het
Sfxn4	C	A	19: 60,847,172 (GRCm39)	S37I	probably damaging	Het
Slc37a1	T	C	17: 31,541,180 (GRCm39)	I224T	possibly damaging	Het
Slc6a6	T	C	6: 91,712,170 (GRCm39)	F233S	probably damaging	Het
Stard9	A	G	2: 120,536,927 (GRCm39)	K4233E	possibly damaging	Het
Trp53bp1	A	T	2: 121,046,377 (GRCm39)	M1141K	probably benign	Het
Ttn	T	C	2: 76,612,011 (GRCm39)	D17297G	probably damaging	Het
Vmn1r12	T	C	6: 57,136,649 (GRCm39)	Y205H	probably damaging	Het
Vmn1r77	A	G	7: 11,775,358 (GRCm39)	K45E	probably damaging	Het
Vmn2r129	T	C	4: 156,685,614 (GRCm39)		noncoding transcript	Het
Vps13a	T	C	19: 16,596,807 (GRCm39)	T3104A	probably benign	Het

Other mutations in Slc12a9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01139:Slc12a9	APN	5	137,321,104 (GRCm39)	missense	probably damaging	0.97
IGL01288:Slc12a9	APN	5	137,329,200 (GRCm39)	splice site	probably null
IGL02379:Slc12a9	APN	5	137,319,691 (GRCm39)	missense	probably damaging	0.99
IGL02975:Slc12a9	APN	5	137,320,705 (GRCm39)	missense	probably damaging	1.00
R0145:Slc12a9	UTSW	5	137,313,550 (GRCm39)	missense	probably damaging	1.00
R0325:Slc12a9	UTSW	5	137,321,108 (GRCm39)	missense	probably damaging	1.00
R0645:Slc12a9	UTSW	5	137,313,638 (GRCm39)	missense	probably benign	0.01
R1004:Slc12a9	UTSW	5	137,320,786 (GRCm39)	missense	probably damaging	1.00
R1646:Slc12a9	UTSW	5	137,321,411 (GRCm39)	missense	probably damaging	1.00
R2280:Slc12a9	UTSW	5	137,330,474 (GRCm39)	missense	probably damaging	0.99
R2425:Slc12a9	UTSW	5	137,313,859 (GRCm39)	missense	probably damaging	1.00
R2909:Slc12a9	UTSW	5	137,330,463 (GRCm39)	missense	probably benign
R3617:Slc12a9	UTSW	5	137,330,759 (GRCm39)	missense	probably damaging	1.00
R4255:Slc12a9	UTSW	5	137,319,694 (GRCm39)	missense	probably damaging	0.99
R4431:Slc12a9	UTSW	5	137,319,775 (GRCm39)	missense	probably benign	0.05
R5384:Slc12a9	UTSW	5	137,329,276 (GRCm39)	missense	probably damaging	1.00
R5665:Slc12a9	UTSW	5	137,319,665 (GRCm39)	missense	possibly damaging	0.79
R6682:Slc12a9	UTSW	5	137,325,663 (GRCm39)	missense	probably damaging	1.00
R6778:Slc12a9	UTSW	5	137,313,343 (GRCm39)	missense	possibly damaging	0.85
R6977:Slc12a9	UTSW	5	137,314,075 (GRCm39)	missense	probably damaging	1.00
R7366:Slc12a9	UTSW	5	137,326,885 (GRCm39)	nonsense	probably null
R7489:Slc12a9	UTSW	5	137,321,082 (GRCm39)	missense	probably damaging	0.96
R7491:Slc12a9	UTSW	5	137,321,082 (GRCm39)	missense	probably damaging	0.96
R7844:Slc12a9	UTSW	5	137,330,448 (GRCm39)	missense	probably damaging	1.00
R7955:Slc12a9	UTSW	5	137,323,808 (GRCm39)	missense	probably damaging	1.00
R8350:Slc12a9	UTSW	5	137,313,737 (GRCm39)	missense	probably benign	0.06
R8351:Slc12a9	UTSW	5	137,326,710 (GRCm39)	missense	probably benign
R8351:Slc12a9	UTSW	5	137,313,737 (GRCm39)	missense	probably benign	0.06
R8352:Slc12a9	UTSW	5	137,313,737 (GRCm39)	missense	probably benign	0.06
R8393:Slc12a9	UTSW	5	137,319,698 (GRCm39)	missense	probably damaging	1.00
R8450:Slc12a9	UTSW	5	137,313,737 (GRCm39)	missense	probably benign	0.06
R8451:Slc12a9	UTSW	5	137,326,710 (GRCm39)	missense	probably benign
R8451:Slc12a9	UTSW	5	137,313,737 (GRCm39)	missense	probably benign	0.06
R8452:Slc12a9	UTSW	5	137,313,737 (GRCm39)	missense	probably benign	0.06
R8475:Slc12a9	UTSW	5	137,313,737 (GRCm39)	missense	probably benign	0.06
R8712:Slc12a9	UTSW	5	137,325,916 (GRCm39)	missense	probably damaging	1.00
R8940:Slc12a9	UTSW	5	137,326,755 (GRCm39)	missense	probably benign
R8955:Slc12a9	UTSW	5	137,329,270 (GRCm39)	missense	probably damaging	0.98
R9730:Slc12a9	UTSW	5	137,325,732 (GRCm39)	missense	probably benign	0.07
R9746:Slc12a9	UTSW	5	137,319,671 (GRCm39)	missense	probably damaging	1.00
RF017:Slc12a9	UTSW	5	137,323,812 (GRCm39)	missense	probably damaging	1.00
Z1177:Slc12a9	UTSW	5	137,320,699 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-02-04