Mutagenetix > Incidental Mutation

Incidental Mutation 'R9229:Slc24a4'

700112

Institutional Source

Beutler Lab

Gene Symbol

Slc24a4

Ensembl Gene

ENSMUSG00000041771

Gene Name

solute carrier family 24 (sodium/potassium/calcium exchanger), member 4

Synonyms

NCKX4, A930002M03Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9229 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

102094992-102233350 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 102200983 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 291 (V291A)

Ref Sequence

ENSEMBL: ENSMUSP00000078030 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079020] [ENSMUST00000159329]

AlphaFold

Q8CGQ8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000079020
AA Change: V291A

PolyPhen 2 Score 0.790 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000078030
Gene: ENSMUSG00000041771
AA Change: V291A

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:Na_Ca_ex	86	229	2.4e-31	PFAM
low complexity region	367	388	N/A	INTRINSIC
Pfam:Na_Ca_ex	435	587	2.4e-30	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000159329
AA Change: V289A

PolyPhen 2 Score 0.790 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000124513
Gene: ENSMUSG00000041771
AA Change: V289A

Domain	Start	End	E-Value	Type
transmembrane domain	23	45	N/A	INTRINSIC
Pfam:Na_Ca_ex	113	245	1e-32	PFAM
low complexity region	365	386	N/A	INTRINSIC
Pfam:Na_Ca_ex	443	562	1.4e-21	PFAM

Predicted Effect

SMART Domains

Protein: ENSMUSP00000125012
Gene: ENSMUSG00000041771
AA Change: V288A

Domain	Start	End	E-Value	Type
transmembrane domain	23	45	N/A	INTRINSIC
Pfam:Na_Ca_ex	103	246	1.3e-31	PFAM
low complexity region	365	386	N/A	INTRINSIC
Pfam:Na_Ca_ex	433	585	1.3e-30	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

97% (77/79)

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 potassium-dependent sodium/calcium exchanger protein family. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jul 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired olfactory response and reduced weight. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr10	A	G	12: 70,990,259 (GRCm39)	T104A	probably damaging	Het
Agbl1	G	A	7: 76,774,270 (GRCm39)	V1065I	unknown	Het
Agpat1	G	T	17: 34,830,663 (GRCm39)	V196L	probably null	Het
Agxt2	T	A	15: 10,409,597 (GRCm39)	V499E	probably damaging	Het
Amy2a1	T	A	3: 113,325,955 (GRCm39)		probably benign	Het
Ankrd35	A	G	3: 96,592,215 (GRCm39)	T834A	probably benign	Het
Arhgef18	T	A	8: 3,479,314 (GRCm39)	S51T	probably benign	Het
Armc12	A	C	17: 28,751,345 (GRCm39)	D113A	probably benign	Het
Azin1	T	A	15: 38,490,646 (GRCm39)	I436F	probably benign	Het
B3galnt2	T	C	13: 14,166,107 (GRCm39)	V334A	probably damaging	Het
Ccdc68	C	T	18: 70,080,203 (GRCm39)	H183Y	probably benign	Het
Cd180	TA	TAA	13: 102,841,514 (GRCm39)		probably null	Het
Cemip	A	T	7: 83,606,833 (GRCm39)	W795R	probably damaging	Het
Cenpj	C	T	14: 56,802,176 (GRCm39)	E130K	possibly damaging	Het
Ciao1	G	C	2: 127,089,062 (GRCm39)	C52W	probably damaging	Het
Cmya5	A	G	13: 93,232,176 (GRCm39)	S971P	possibly damaging	Het
Cnot2	A	T	10: 116,384,960 (GRCm39)	L9*	probably null	Het
Coro1c	G	T	5: 114,003,747 (GRCm39)	H91N	probably damaging	Het
Crbn	A	T	6: 106,777,017 (GRCm39)	M1K	probably null	Het
Ctsb	T	A	14: 63,373,112 (GRCm39)	W90R	probably damaging	Het
Ctse	A	G	1: 131,595,862 (GRCm39)	I185V	probably damaging	Het
Dennd1b	G	T	1: 138,981,100 (GRCm39)	E105*	probably null	Het
Eif4a3l1	A	G	6: 136,306,141 (GRCm39)	I201V	possibly damaging	Het
Exoc5	G	A	14: 49,251,710 (GRCm39)	Q679*	probably null	Het
Firrm	A	T	1: 163,794,659 (GRCm39)	W512R	probably damaging	Het
Gabrg3	G	A	7: 56,374,268 (GRCm39)	R433C	probably damaging	Het
Gria2	C	A	3: 80,709,689 (GRCm39)	M1I	probably null	Het
H1f6	T	C	13: 23,880,029 (GRCm39)	S61P	probably damaging	Het
Hoxb6	A	T	11: 96,191,645 (GRCm39)	Q189L	probably damaging	Het
Hoxd10	A	G	2: 74,524,600 (GRCm39)	N304S	possibly damaging	Het
Hps4	G	A	5: 112,525,905 (GRCm39)	S642N	possibly damaging	Het
Htra4	A	T	8: 25,528,557 (GRCm39)	C112S	probably damaging	Het
Ide	T	C	19: 37,261,598 (GRCm39)	T715A		Het
Ipo13	A	T	4: 117,758,801 (GRCm39)	I688N	probably damaging	Het
Irs2	A	C	8: 11,057,400 (GRCm39)	L344R	probably damaging	Het
Kat6a	A	G	8: 23,429,987 (GRCm39)	T1781A	unknown	Het
Lin7a	G	T	10: 107,247,844 (GRCm39)	V172L	probably damaging	Het
Lpcat1	G	T	13: 73,653,650 (GRCm39)	E282D	probably damaging	Het
Mcf2l	A	G	8: 13,063,584 (GRCm39)	T963A	probably benign	Het
Mfsd14a	G	A	3: 116,439,118 (GRCm39)	A128V	probably benign	Het
Mfsd6	C	G	1: 52,747,903 (GRCm39)	G321R	probably damaging	Het
Mill2	C	T	7: 18,590,475 (GRCm39)	T185I	probably damaging	Het
Mpped1	C	T	15: 83,738,673 (GRCm39)	T270I	possibly damaging	Het
Mrtfb	G	T	16: 13,230,185 (GRCm39)	A957S	possibly damaging	Het
Myh9	T	A	15: 77,675,017 (GRCm39)	Y300F	possibly damaging	Het
Nlrp2	T	A	7: 5,304,052 (GRCm39)	T953S	possibly damaging	Het
Nlrp4e	T	A	7: 23,020,799 (GRCm39)	S429T	probably benign	Het
Nphp3	T	A	9: 103,913,376 (GRCm39)	Y1003N	probably damaging	Het
Nrap	T	C	19: 56,310,339 (GRCm39)	K1588R	probably benign	Het
Odad2	C	A	18: 7,127,324 (GRCm39)	R963L	possibly damaging	Het
Or10ag56	G	A	2: 87,139,165 (GRCm39)	V31I	probably benign	Het
Or5b124	T	A	19: 13,611,414 (GRCm39)	V313D	probably damaging	Het
Pam	A	G	1: 97,753,660 (GRCm39)	V870A	probably benign	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398 (GRCm39)		probably benign	Het
Pierce1	C	A	2: 28,352,390 (GRCm39)	M124I	probably damaging	Het
Plin3	A	T	17: 56,591,315 (GRCm39)	V155E	probably damaging	Het
Pmepa1	T	C	2: 173,117,962 (GRCm39)	T6A	probably benign	Het
Pnpla7	G	A	2: 24,873,503 (GRCm39)	V170I	probably damaging	Het
Pramel34	A	T	5: 93,784,089 (GRCm39)	C458*	probably null	Het
Ptprz1	A	G	6: 22,986,283 (GRCm39)	H361R	probably null	Het
Pvalb	T	A	15: 78,086,767 (GRCm39)	I50F	possibly damaging	Het
Relch	A	T	1: 105,614,709 (GRCm39)	I218F	possibly damaging	Het
Rhag	G	A	17: 41,142,081 (GRCm39)	A175T	probably damaging	Het
Slc9b2	G	A	3: 135,042,295 (GRCm39)	E525K	probably benign	Het
Smg7	A	G	1: 152,720,971 (GRCm39)	F747S	possibly damaging	Het
Sorcs1	T	G	19: 50,141,300 (GRCm39)	I1144L	probably benign	Het
Sox1	A	T	8: 12,447,390 (GRCm39)	I344F	possibly damaging	Het
Speer4e2	A	T	5: 15,027,718 (GRCm39)	S53T	probably benign	Het
Spta1	A	T	1: 174,067,750 (GRCm39)	E2059V	probably damaging	Het
Sva	T	A	6: 42,017,050 (GRCm39)	N52K	possibly damaging	Het
Sva	T	A	6: 42,017,052 (GRCm39)	M53K	probably benign	Het
Thsd7b	A	G	1: 129,849,027 (GRCm39)	Y913C	probably damaging	Het
Tiam1	A	G	16: 89,634,719 (GRCm39)	S864P	possibly damaging	Het
Tma16	A	G	8: 66,936,779 (GRCm39)	V16A	probably benign	Het
Tmco1	C	T	1: 167,136,132 (GRCm39)		probably benign	Het
Treml1	A	G	17: 48,673,774 (GRCm39)	S262G	probably benign	Het
Ttn	A	T	2: 76,597,797 (GRCm39)	D19705E	probably benign	Het
Utp20	A	G	10: 88,594,239 (GRCm39)	L2162P	possibly damaging	Het
Vmn2r60	A	G	7: 41,791,723 (GRCm39)	I549V	possibly damaging	Het
Xpo4	T	C	14: 57,851,156 (GRCm39)	N329S	probably benign	Het
Zfp879	T	A	11: 50,723,886 (GRCm39)	H390L	probably damaging	Het
Zranb1	C	T	7: 132,583,117 (GRCm39)	S512F	probably damaging	Het
Zswim8	A	G	14: 20,766,393 (GRCm39)	H847R	probably benign	Het

Other mutations in Slc24a4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01358:Slc24a4	APN	12	102,189,894 (GRCm39)	missense	probably benign	0.09
IGL01724:Slc24a4	APN	12	102,185,219 (GRCm39)	missense	possibly damaging	0.78
IGL01767:Slc24a4	APN	12	102,189,946 (GRCm39)	splice site	probably benign
IGL01814:Slc24a4	APN	12	102,220,877 (GRCm39)	missense	probably benign	0.00
IGL02047:Slc24a4	APN	12	102,220,882 (GRCm39)	missense	probably damaging	1.00
IGL02449:Slc24a4	APN	12	102,193,341 (GRCm39)	missense	probably benign	0.00
IGL02632:Slc24a4	APN	12	102,200,941 (GRCm39)	missense	probably benign	0.15
IGL03251:Slc24a4	APN	12	102,189,084 (GRCm39)	missense	probably damaging	0.98
spindly	UTSW	12	102,231,203 (GRCm39)	critical splice donor site	probably null
R0207:Slc24a4	UTSW	12	102,195,210 (GRCm39)	critical splice donor site	probably null
R0284:Slc24a4	UTSW	12	102,226,740 (GRCm39)	missense	probably damaging	1.00
R0506:Slc24a4	UTSW	12	102,097,882 (GRCm39)	critical splice donor site	probably null
R1903:Slc24a4	UTSW	12	102,097,876 (GRCm39)	missense	probably benign	0.00
R2004:Slc24a4	UTSW	12	102,180,166 (GRCm39)	missense	probably damaging	1.00
R2126:Slc24a4	UTSW	12	102,189,018 (GRCm39)	missense	probably damaging	1.00
R2518:Slc24a4	UTSW	12	102,188,310 (GRCm39)	missense	probably benign	0.02
R3498:Slc24a4	UTSW	12	102,200,951 (GRCm39)	missense	probably benign
R3620:Slc24a4	UTSW	12	102,185,222 (GRCm39)	missense	probably damaging	1.00
R3621:Slc24a4	UTSW	12	102,185,222 (GRCm39)	missense	probably damaging	1.00
R4917:Slc24a4	UTSW	12	102,231,203 (GRCm39)	critical splice donor site	probably null
R5028:Slc24a4	UTSW	12	102,230,629 (GRCm39)	missense	probably damaging	1.00
R5886:Slc24a4	UTSW	12	102,226,674 (GRCm39)	missense	probably damaging	1.00
R5914:Slc24a4	UTSW	12	102,201,049 (GRCm39)	missense	probably damaging	1.00
R6257:Slc24a4	UTSW	12	102,220,769 (GRCm39)	missense	probably benign	0.00
R6305:Slc24a4	UTSW	12	102,188,360 (GRCm39)	missense	possibly damaging	0.84
R6313:Slc24a4	UTSW	12	102,220,769 (GRCm39)	missense	probably benign	0.00
R6734:Slc24a4	UTSW	12	102,185,259 (GRCm39)	missense	probably damaging	1.00
R7378:Slc24a4	UTSW	12	102,205,435 (GRCm39)	missense	probably benign	0.06
R7419:Slc24a4	UTSW	12	102,193,350 (GRCm39)	critical splice donor site	probably null
R7529:Slc24a4	UTSW	12	102,230,707 (GRCm39)	missense	probably benign	0.01
R7715:Slc24a4	UTSW	12	102,185,219 (GRCm39)	missense	possibly damaging	0.89
R7781:Slc24a4	UTSW	12	102,201,112 (GRCm39)	critical splice donor site	probably null
R8258:Slc24a4	UTSW	12	102,220,928 (GRCm39)	missense	probably damaging	1.00
R8259:Slc24a4	UTSW	12	102,220,928 (GRCm39)	missense	probably damaging	1.00
R8766:Slc24a4	UTSW	12	102,196,711 (GRCm39)	missense	probably benign	0.00
R8811:Slc24a4	UTSW	12	102,180,133 (GRCm39)	missense	probably damaging	1.00
R9339:Slc24a4	UTSW	12	102,230,638 (GRCm39)	missense	probably damaging	1.00
R9599:Slc24a4	UTSW	12	102,097,779 (GRCm39)	missense	probably benign	0.10
R9680:Slc24a4	UTSW	12	102,193,334 (GRCm39)	missense	possibly damaging	0.95
Z1176:Slc24a4	UTSW	12	102,205,497 (GRCm39)	missense	probably benign	0.01
Z1176:Slc24a4	UTSW	12	102,195,157 (GRCm39)	missense	probably damaging	1.00
Z1177:Slc24a4	UTSW	12	102,226,679 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TGACCTCAGGGAAGCTGCC -3'
(R):5'- GACCACTCACTTTCTGTATAGCCAG -3'

Sequencing Primer
(F):5'- TCAGGGAAGCTGCCAACTG -3'
(R):5'- TCATGCCTGAGAACCATGTG -3'

Posted On

2022-02-07