Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02975:Slc12a9'

406353

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 #

IGL02975

Quality Score

Status

Chromosome

Chromosomal Location

137312820-137331859 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 137320705 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 555 (K555R)

Ref Sequence

ENSEMBL: ENSMUSP00000038106 (fasta)

Gene Model

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

AlphaFold

Q99MR3

Predicted Effect

probably damaging
Transcript: ENSMUST00000039991
AA Change: K555R

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

SMART Domains

Protein: ENSMUSP00000038106
Gene: ENSMUSG00000037344
AA Change: K555R

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930011G23Rik	T	C	5: 99,381,784 (GRCm39)	D326G	possibly damaging	Het
Abtb3	A	G	10: 85,467,207 (GRCm39)	I721V	probably benign	Het
Ago4	C	T	4: 126,406,312 (GRCm39)		probably null	Het
Ank	A	G	15: 27,467,087 (GRCm39)		probably benign	Het
Ankmy2	C	A	12: 36,243,773 (GRCm39)	S329R	possibly damaging	Het
Aox1	A	G	1: 58,107,550 (GRCm39)	E608G	probably damaging	Het
Car1	G	A	3: 14,842,882 (GRCm39)	L48F	probably benign	Het
Cct8	A	G	16: 87,283,118 (GRCm39)		probably benign	Het
Clasp1	A	T	1: 118,390,277 (GRCm39)	T154S	probably damaging	Het
Clca4a	A	C	3: 144,669,530 (GRCm39)	I340M	possibly damaging	Het
Cnksr3	C	T	10: 7,088,354 (GRCm39)		probably null	Het
Cntrob	T	C	11: 69,210,199 (GRCm39)	T265A	possibly damaging	Het
Ddx5	T	C	11: 106,672,711 (GRCm39)	I605V	probably benign	Het
Eif3i	A	G	4: 129,489,105 (GRCm39)	Y70H	probably damaging	Het
Epb41l5	T	C	1: 119,506,811 (GRCm39)		probably benign	Het
Fah	A	T	7: 84,250,287 (GRCm39)	S90T	probably benign	Het
Fat2	T	A	11: 55,161,020 (GRCm39)	M3237L	probably benign	Het
Fbxw8	A	G	5: 118,215,760 (GRCm39)	Y417H	probably benign	Het
Fmnl2	C	A	2: 52,991,494 (GRCm39)	F336L	probably benign	Het
Gli3	A	G	13: 15,899,153 (GRCm39)	R847G	probably damaging	Het
Gm17509	T	C	13: 117,357,308 (GRCm39)		probably benign	Het
Gm4846	T	A	1: 166,311,449 (GRCm39)	Y470F	possibly damaging	Het
Gm7461	T	C	8: 4,727,847 (GRCm39)		noncoding transcript	Het
Gpatch4	A	T	3: 87,961,743 (GRCm39)	N134I	possibly damaging	Het
Grina	A	G	15: 76,133,185 (GRCm39)	Y251C	probably damaging	Het
Gsn	A	G	2: 35,194,666 (GRCm39)	D654G	probably benign	Het
Hyal5	A	G	6: 24,891,451 (GRCm39)	T422A	probably benign	Het
Iars1	T	A	13: 49,858,325 (GRCm39)	I377N	probably damaging	Het
Ints3	A	T	3: 90,309,144 (GRCm39)		probably benign	Het
Kdm4b	G	A	17: 56,682,996 (GRCm39)		probably null	Het
Kyat1	A	G	2: 30,076,687 (GRCm39)	S276P	probably damaging	Het
Lrrc1	A	G	9: 77,359,929 (GRCm39)	C288R	probably damaging	Het
Mst1r	T	A	9: 107,790,379 (GRCm39)	M664K	probably benign	Het
Neb	A	T	2: 52,188,879 (GRCm39)	I817N	probably damaging	Het
Nudt6	C	A	3: 37,473,667 (GRCm39)	G18V	probably damaging	Het
Or10a49	G	A	7: 108,468,062 (GRCm39)	Q100*	probably null	Het
Or4k52	T	A	2: 111,611,266 (GRCm39)	Y200*	probably null	Het
Or7a41	T	C	10: 78,870,867 (GRCm39)	V79A	possibly damaging	Het
Pde1c	A	G	6: 56,135,921 (GRCm39)	I341T	probably damaging	Het
Pgm5	T	C	19: 24,812,212 (GRCm39)	I107V	probably benign	Het
Pot1b	G	A	17: 55,969,454 (GRCm39)		probably benign	Het
Prkca	C	T	11: 108,231,503 (GRCm39)	W58*	probably null	Het
Smoc2	A	T	17: 14,556,872 (GRCm39)	Q107L	probably damaging	Het
Sytl1	T	A	4: 132,988,343 (GRCm39)	R4S	probably benign	Het
Tbc1d4	A	G	14: 101,695,549 (GRCm39)	L963P	probably damaging	Het
Tfdp2	G	A	9: 96,199,989 (GRCm39)		probably benign	Het
Tmem63a	A	T	1: 180,788,640 (GRCm39)	M326L	probably benign	Het
Vmn2r66	A	G	7: 84,656,182 (GRCm39)	L278P	probably damaging	Het
Wtap	A	G	17: 13,202,398 (GRCm39)	V11A	possibly damaging	Het
Zcchc9	A	T	13: 91,954,172 (GRCm39)	S28T	possibly damaging	Het
Zfp12	C	T	5: 143,229,814 (GRCm39)		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
IGL01829:Slc12a9	APN	5	137,325,627 (GRCm39)	splice site	probably benign
IGL02379:Slc12a9	APN	5	137,319,691 (GRCm39)	missense	probably damaging	0.99
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

2016-08-02