Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01139:Slc12a9'

51182

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 essential (E-score: 0.501) question?

Stock #

IGL01139

Quality Score

Status

Chromosome

Chromosomal Location

137314558-137333597 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 137322842 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 470 (M470I)

Ref Sequence

ENSEMBL: ENSMUSP00000038106 (fasta)

Gene Model

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

AlphaFold

Q99MR3

Predicted Effect

probably damaging
Transcript: ENSMUST00000039991
AA Change: M470I

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000038106
Gene: ENSMUSG00000037344
AA Change: M470I

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr3	A	T	1: 125,405,885	I215N	probably damaging	Het
Ambn	C	T	5: 88,464,517		probably benign	Het
Arhgef1	T	A	7: 24,925,951		probably benign	Het
Arid1a	A	C	4: 133,693,997	S832R	unknown	Het
Clca4a	A	T	3: 144,966,269	I304N	probably damaging	Het
Dmxl2	G	A	9: 54,458,964	P274S	probably damaging	Het
Eif4enif1	T	A	11: 3,221,143	D211E	probably damaging	Het
Eri2	A	G	7: 119,786,737		probably null	Het
Fhod3	C	T	18: 25,066,344	P691S	probably benign	Het
Flnb	A	G	14: 7,945,989	S2465G	probably damaging	Het
Ftsj1	G	A	X: 8,246,592	R171C	probably damaging	Het
Glb1l3	G	A	9: 26,818,227	T648I	probably benign	Het
Gm4222	T	A	2: 90,148,545		probably benign	Het
Gm438	A	T	4: 144,777,689	Y297*	probably null	Het
Gm5475	G	A	15: 100,424,215		probably benign	Het
Jaml	C	A	9: 45,101,019	T268N	possibly damaging	Het
Kank3	G	A	17: 33,817,401	G81E	probably damaging	Het
Lrba	A	G	3: 86,642,662	T217A	possibly damaging	Het
Ltn1	A	G	16: 87,416,009	S555P	probably benign	Het
Map3k15	T	A	X: 160,072,879	M350K	probably damaging	Het
Mipol1	C	A	12: 57,306,035	Y53*	probably null	Het
Mn1	A	G	5: 111,421,449	D1095G	probably damaging	Het
Myh14	T	C	7: 44,606,292		probably benign	Het
Nrn1	A	G	13: 36,730,216	C31R	probably damaging	Het
Nup210	A	T	6: 91,030,097	L579H	possibly damaging	Het
Nxf2	T	C	X: 134,950,396	I578V	probably benign	Het
Obscn	G	A	11: 59,078,352	A172V	probably damaging	Het
Olfr1006	T	G	2: 85,674,497	Y218S	probably damaging	Het
Olfr55	T	A	17: 33,176,782	Y123N	probably damaging	Het
Phtf1	A	G	3: 104,005,602	D748G	probably damaging	Het
Psd3	A	T	8: 67,908,535	Y863N	probably damaging	Het
Psmc6	C	T	14: 45,343,710	T321I	probably benign	Het
Rassf6	T	C	5: 90,608,966	*31W	probably null	Het
Rictor	A	C	15: 6,778,268	K791Q	probably damaging	Het
Tex28	A	T	X: 74,151,224	M367K	possibly damaging	Het
Thnsl2	A	T	6: 71,138,734	V163D	probably damaging	Het
Tmco3	G	A	8: 13,319,887	R633Q	possibly damaging	Het
Trf	A	T	9: 103,223,604	V224D	probably damaging	Het
Ttc8	C	T	12: 98,964,545	Q273*	probably null	Het
Usp9x	A	G	X: 13,104,576		probably benign	Het
Vmn2r117	A	G	17: 23,477,804	W210R	probably damaging	Het
Vmn2r5	A	G	3: 64,491,405	S718P	probably benign	Het
Vps13a	T	C	19: 16,640,625	D2932G	probably damaging	Het
Whamm	T	C	7: 81,595,914	L706P	probably damaging	Het
Yeats2	G	A	16: 20,214,393	V45I	probably damaging	Het
Yipf3	G	A	17: 46,250,457		probably null	Het
Zeb1	T	C	18: 5,705,061	V26A	possibly damaging	Het

Other mutations in Slc12a9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01288:Slc12a9	APN	5	137330938	splice site	probably null
IGL01829:Slc12a9	APN	5	137327365	splice site	probably benign
IGL02379:Slc12a9	APN	5	137321429	missense	probably damaging	0.99
IGL02975:Slc12a9	APN	5	137322443	missense	probably damaging	1.00
R0145:Slc12a9	UTSW	5	137315288	missense	probably damaging	1.00
R0325:Slc12a9	UTSW	5	137322846	missense	probably damaging	1.00
R0645:Slc12a9	UTSW	5	137315376	missense	probably benign	0.01
R1004:Slc12a9	UTSW	5	137322524	missense	probably damaging	1.00
R1646:Slc12a9	UTSW	5	137323149	missense	probably damaging	1.00
R2280:Slc12a9	UTSW	5	137332212	missense	probably damaging	0.99
R2425:Slc12a9	UTSW	5	137315597	missense	probably damaging	1.00
R2909:Slc12a9	UTSW	5	137332201	missense	probably benign
R3617:Slc12a9	UTSW	5	137332497	missense	probably damaging	1.00
R4255:Slc12a9	UTSW	5	137321432	missense	probably damaging	0.99
R4431:Slc12a9	UTSW	5	137321513	missense	probably benign	0.05
R5384:Slc12a9	UTSW	5	137331014	missense	probably damaging	1.00
R5665:Slc12a9	UTSW	5	137321403	missense	possibly damaging	0.79
R6682:Slc12a9	UTSW	5	137327401	missense	probably damaging	1.00
R6778:Slc12a9	UTSW	5	137315081	missense	possibly damaging	0.85
R6977:Slc12a9	UTSW	5	137315813	missense	probably damaging	1.00
R7366:Slc12a9	UTSW	5	137328623	nonsense	probably null
R7489:Slc12a9	UTSW	5	137322820	missense	probably damaging	0.96
R7491:Slc12a9	UTSW	5	137322820	missense	probably damaging	0.96
R7844:Slc12a9	UTSW	5	137332186	missense	probably damaging	1.00
R7955:Slc12a9	UTSW	5	137325546	missense	probably damaging	1.00
R8350:Slc12a9	UTSW	5	137315475	missense	probably benign	0.06
R8351:Slc12a9	UTSW	5	137315475	missense	probably benign	0.06
R8351:Slc12a9	UTSW	5	137328448	missense	probably benign
R8352:Slc12a9	UTSW	5	137315475	missense	probably benign	0.06
R8393:Slc12a9	UTSW	5	137321436	missense	probably damaging	1.00
R8450:Slc12a9	UTSW	5	137315475	missense	probably benign	0.06
R8451:Slc12a9	UTSW	5	137315475	missense	probably benign	0.06
R8451:Slc12a9	UTSW	5	137328448	missense	probably benign
R8452:Slc12a9	UTSW	5	137315475	missense	probably benign	0.06
R8475:Slc12a9	UTSW	5	137315475	missense	probably benign	0.06
R8712:Slc12a9	UTSW	5	137327654	missense	probably damaging	1.00
R8940:Slc12a9	UTSW	5	137328493	missense	probably benign
R8955:Slc12a9	UTSW	5	137331008	missense	probably damaging	0.98
R9730:Slc12a9	UTSW	5	137327470	missense	probably benign	0.07
R9746:Slc12a9	UTSW	5	137321409	missense	probably damaging	1.00
RF017:Slc12a9	UTSW	5	137325550	missense	probably damaging	1.00
Z1177:Slc12a9	UTSW	5	137322437	missense	probably damaging	1.00

Posted On

2013-06-21