Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02379:Slc12a9'

291302

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: 0.445) question?

Stock #

IGL02379

Quality Score

Status

Chromosome

Chromosomal Location

137312820-137331859 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 137319691 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Proline at position 608 (Q608P)

Ref Sequence

ENSEMBL: ENSMUSP00000038106 (fasta)

Gene Model

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

AlphaFold

Q99MR3

Predicted Effect

probably damaging
Transcript: ENSMUST00000039991
AA Change: Q608P

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000038106
Gene: ENSMUSG00000037344
AA Change: Q608P

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad10	T	A	5: 121,760,106 (GRCm39)	I996F	probably damaging	Het
Adamts9	T	A	6: 92,774,014 (GRCm39)	D1133V	probably damaging	Het
Adi1	T	A	12: 28,729,466 (GRCm39)	D106E	probably damaging	Het
Agl	A	G	3: 116,572,740 (GRCm39)	F837S	probably damaging	Het
Alb	T	A	5: 90,613,738 (GRCm39)	D207E	probably benign	Het
Alms1	T	G	6: 85,606,615 (GRCm39)	V2286G	probably damaging	Het
Alpl	G	A	4: 137,469,869 (GRCm39)	A485V	probably damaging	Het
Antxrl	C	A	14: 33,778,492 (GRCm39)		probably null	Het
Apc	C	T	18: 34,431,798 (GRCm39)	T417I	probably benign	Het
Ash2l	T	C	8: 26,312,799 (GRCm39)	D390G	probably damaging	Het
Asph	G	A	4: 9,474,980 (GRCm39)	P582S	probably damaging	Het
Bcr	T	A	10: 74,992,980 (GRCm39)	L825Q	probably benign	Het
Bhlha15	T	A	5: 144,128,159 (GRCm39)	N90K	probably damaging	Het
Cgnl1	T	A	9: 71,552,835 (GRCm39)	Y1043F	possibly damaging	Het
Chek1	T	C	9: 36,635,242 (GRCm39)	D47G	probably benign	Het
Clca4b	T	A	3: 144,627,619 (GRCm39)	M451L	probably benign	Het
Csnk1g3	T	C	18: 54,066,564 (GRCm39)	S346P	probably benign	Het
Cspg4	G	T	9: 56,799,893 (GRCm39)		probably benign	Het
Ctr9	A	G	7: 110,650,726 (GRCm39)	K884E	probably damaging	Het
Cyld	T	A	8: 89,471,556 (GRCm39)	C813*	probably null	Het
Fn3k	A	T	11: 121,325,950 (GRCm39)	T46S	probably benign	Het
Foxred1	T	C	9: 35,121,282 (GRCm39)	R89G	probably benign	Het
Gpr174	T	C	X: 106,337,084 (GRCm39)	F299L	probably damaging	Het
Hdac7	T	C	15: 97,706,266 (GRCm39)	D312G	probably damaging	Het
Il36b	A	G	2: 24,044,650 (GRCm39)	S17G	probably benign	Het
Kcna5	G	T	6: 126,511,472 (GRCm39)	P219T	probably damaging	Het
Kcnh2	A	C	5: 24,531,636 (GRCm39)	V425G	probably damaging	Het
Klk1b5	A	G	7: 43,500,246 (GRCm39)	N278S	probably damaging	Het
Mars2	T	A	1: 55,277,212 (GRCm39)	W272R	probably damaging	Het
Msl3l2	C	A	10: 55,992,017 (GRCm39)	S247R	possibly damaging	Het
Myh7	T	C	14: 55,216,925 (GRCm39)	E1144G	probably damaging	Het
Nefm	T	C	14: 68,357,688 (GRCm39)		probably benign	Het
Nwd2	A	G	5: 63,962,644 (GRCm39)	K743E	probably damaging	Het
Nyap2	C	T	1: 81,065,147 (GRCm39)	T53I	probably damaging	Het
Odad4	A	T	11: 100,457,809 (GRCm39)	N471Y	possibly damaging	Het
Or10ag58	T	C	2: 87,265,668 (GRCm39)	V279A	probably benign	Het
Or52z12	T	C	7: 103,234,099 (GRCm39)	V290A	possibly damaging	Het
Peli2	A	G	14: 48,405,755 (GRCm39)	H60R	probably damaging	Het
Pias2	T	A	18: 77,232,844 (GRCm39)		probably benign	Het
Pik3c2b	A	G	1: 133,022,529 (GRCm39)	D1157G	probably damaging	Het
Pip4k2a	C	T	2: 18,870,922 (GRCm39)		probably null	Het
Raf1	A	T	6: 115,621,509 (GRCm39)	D23E	probably benign	Het
Rhox10	G	A	X: 37,155,733 (GRCm39)	R87H	probably benign	Het
Rpgrip1	A	G	14: 52,376,345 (GRCm39)	T449A	possibly damaging	Het
Serpina3a	T	A	12: 104,084,919 (GRCm39)	S105T	probably benign	Het
Smg6	C	A	11: 74,944,751 (GRCm39)	P167T	probably damaging	Het
Spata7	C	T	12: 98,600,519 (GRCm39)	T44I	probably damaging	Het
Spink12	C	T	18: 44,239,575 (GRCm39)		probably benign	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
Stag2	C	T	X: 41,339,474 (GRCm39)	T754I	probably benign	Het
Supt6	C	T	11: 78,116,195 (GRCm39)	V723M	possibly damaging	Het
Ubr3	A	G	2: 69,778,832 (GRCm39)	D614G	possibly damaging	Het
Vps39	T	A	2: 120,154,089 (GRCm39)	K624N	probably benign	Het
Vwa5b1	A	T	4: 138,340,170 (GRCm39)	L29Q	probably damaging	Het
Wtap	G	A	17: 13,188,336 (GRCm39)	A188V	probably benign	Het
Zc3hc1	A	G	6: 30,390,974 (GRCm39)	F5L	probably benign	Het
Zfp655	C	T	5: 145,180,765 (GRCm39)	P208S	probably benign	Het
Zswim3	A	T	2: 164,662,602 (GRCm39)		probably null	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
IGL01829:Slc12a9	APN	5	137,325,627 (GRCm39)	splice site	probably benign
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

2015-04-16