Mutagenetix > Incidental Mutation

Incidental Mutation 'R9339:Slc24a4'

707392

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 #

R9339 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

102094992-102233350 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 102230638 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 510 (V510M)

Ref Sequence

ENSEMBL: ENSMUSP00000078030 (fasta)

Gene Model

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

AlphaFold

Q8CGQ8

Predicted Effect

probably damaging
Transcript: ENSMUST00000079020
AA Change: V510M

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

SMART Domains

Protein: ENSMUSP00000078030
Gene: ENSMUSG00000041771
AA Change: V510M

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

probably damaging
Transcript: ENSMUST00000159329
AA Change: V508M

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

SMART Domains

Protein: ENSMUSP00000124513
Gene: ENSMUSG00000041771
AA Change: V508M

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: V507M

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

Meta Mutation Damage Score

0.1125

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

99% (77/78)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	A	G	16: 4,667,521 (GRCm39)	E304G	unknown	Het
4933436I01Rik	T	A	X: 66,964,689 (GRCm39)	K57*	probably null	Het
Aar2	T	C	2: 156,392,893 (GRCm39)	V94A	probably benign	Het
Abcb9	T	C	5: 124,228,176 (GRCm39)	T22A	possibly damaging	Het
Adam25	T	C	8: 41,206,911 (GRCm39)	V59A	probably damaging	Het
Ampd2	T	C	3: 107,987,616 (GRCm39)	D103G	probably damaging	Het
Ankrd12	A	G	17: 66,291,408 (GRCm39)	S1342P	probably benign	Het
Atp13a2	A	G	4: 140,730,571 (GRCm39)	T739A	probably benign	Het
Catsperg1	T	A	7: 28,894,885 (GRCm39)	N571Y	probably benign	Het
Cela3b	A	G	4: 137,152,355 (GRCm39)	I74T	probably damaging	Het
Cfhr1	A	G	1: 139,485,293 (GRCm39)	L51P	probably benign	Het
Cfhr4	T	A	1: 139,682,044 (GRCm39)	Y184F	probably benign	Het
Ckap5	T	A	2: 91,396,100 (GRCm39)	D534E	probably benign	Het
Cstf3	C	T	2: 104,493,778 (GRCm39)	P594L	probably damaging	Het
Ctdp1	A	G	18: 80,492,689 (GRCm39)	L602P	probably damaging	Het
Defa24	A	G	8: 22,224,559 (GRCm39)	T3A	probably damaging	Het
Dmgdh	A	G	13: 93,847,941 (GRCm39)	H546R	probably benign	Het
Dscam	A	G	16: 96,517,263 (GRCm39)	V882A	possibly damaging	Het
Dydc2	A	G	14: 40,771,260 (GRCm39)	*140Q	probably null	Het
Ehd4	T	C	2: 119,921,708 (GRCm39)	D516G	possibly damaging	Het
En1	T	C	1: 120,534,893 (GRCm39)	V394A	unknown	Het
Erich3	T	G	3: 154,468,872 (GRCm39)	L1108R	unknown	Het
Erp27	A	G	6: 136,896,945 (GRCm39)	S86P	probably benign	Het
Esr1	A	C	10: 4,696,798 (GRCm39)	S216R	probably damaging	Het
Fbxo40	A	T	16: 36,789,286 (GRCm39)	I608N	probably damaging	Het
Fcna	G	A	2: 25,517,782 (GRCm39)	Q23*	probably null	Het
Foxn4	C	T	5: 114,394,955 (GRCm39)	R324Q	probably benign	Het
Gata6	A	G	18: 11,054,520 (GRCm39)	T150A	probably damaging	Het
Gbp2b	T	A	3: 142,317,178 (GRCm39)	H511Q	probably benign	Het
Gpr171	C	A	3: 59,005,362 (GRCm39)	V138L	probably damaging	Het
Grhl2	G	A	15: 37,344,904 (GRCm39)	V509I	probably benign	Het
Gzmd	G	A	14: 56,367,869 (GRCm39)	P135S	probably damaging	Het
Hhatl	C	A	9: 121,618,862 (GRCm39)	C90F	probably benign	Het
Hspg2	A	G	4: 137,278,480 (GRCm39)	K3050R	probably benign	Het
Kcnh3	T	C	15: 99,130,786 (GRCm39)	Y468H	probably damaging	Het
Lhfpl6	A	G	3: 52,950,891 (GRCm39)	H55R	probably benign	Het
Lpgat1	T	C	1: 191,451,488 (GRCm39)	V38A	probably benign	Het
Lrrc49	A	G	9: 60,510,031 (GRCm39)	I479T	probably benign	Het
Map1b	A	T	13: 99,567,570 (GRCm39)	I1717N	unknown	Het
Map3k20	G	T	2: 72,272,216 (GRCm39)	R781S	possibly damaging	Het
Mcm3ap	A	G	10: 76,306,358 (GRCm39)	E157G	probably benign	Het
Mylk2	A	G	2: 152,755,370 (GRCm39)	E178G	probably damaging	Het
Naaladl2	A	G	3: 24,057,146 (GRCm39)	L605P	probably damaging	Het
Nox4	G	A	7: 87,025,448 (GRCm39)	R525Q	probably benign	Het
Nt5el	C	T	13: 105,246,114 (GRCm39)	T225I	probably benign	Het
Or10h28	T	C	17: 33,488,631 (GRCm39)	V311A	probably benign	Het
Or4a76	T	C	2: 89,460,555 (GRCm39)	E229G	probably damaging	Het
Padi3	A	T	4: 140,522,928 (GRCm39)	I348N	probably benign	Het
Pcdh18	T	C	3: 49,709,335 (GRCm39)	D660G	probably damaging	Het
Pdgfra	T	A	5: 75,355,635 (GRCm39)	S1048R	probably damaging	Het
Pkhd1l1	T	C	15: 44,452,949 (GRCm39)	V3958A	probably damaging	Het
Ppargc1b	C	A	18: 61,456,267 (GRCm39)	C80F	probably damaging	Het
Rbm28	T	C	6: 29,128,674 (GRCm39)	E590G	probably benign	Het
Rbm47	T	C	5: 66,183,826 (GRCm39)	E259G	possibly damaging	Het
Rint1	A	G	5: 23,993,355 (GRCm39)	*37W	probably null	Het
Sacs	G	A	14: 61,443,309 (GRCm39)	R1785Q	probably benign	Het
Samm50	T	C	15: 84,095,276 (GRCm39)	C421R	probably benign	Het
Scnn1b	G	T	7: 121,511,254 (GRCm39)	A314S	probably damaging	Het
Sf3b3	C	A	8: 111,542,854 (GRCm39)	V868L	probably benign	Het
Sirt5	G	T	13: 43,530,327 (GRCm39)	V136L	probably benign	Het
Slc1a7	T	C	4: 107,850,237 (GRCm39)	V116A	probably damaging	Het
Slc35f5	T	C	1: 125,517,628 (GRCm39)	I116T	probably benign	Het
Spata4	T	C	8: 55,053,899 (GRCm39)	S22P	probably benign	Het
Sqstm1	A	G	11: 50,091,725 (GRCm39)	V324A	probably benign	Het
Stmnd1	G	A	13: 46,453,079 (GRCm39)	A252T	probably benign	Het
Tbl1xr1	C	A	3: 22,258,150 (GRCm39)	N470K	possibly damaging	Het
Thap12	T	C	7: 98,364,323 (GRCm39)	S164P	possibly damaging	Het
Thsd1	A	G	8: 22,733,898 (GRCm39)	Y315C	probably damaging	Het
Tnni2	C	A	7: 141,997,672 (GRCm39)	D102E	probably damaging	Het
Trav7n-4	A	C	14: 53,328,849 (GRCm39)	N16T	probably benign	Het
Trpm7	T	C	2: 126,665,906 (GRCm39)	K900R	probably benign	Het
Tspoap1	T	A	11: 87,668,839 (GRCm39)	C1371S	probably benign	Het
Tssk5	A	G	15: 76,257,156 (GRCm39)	M242T	possibly damaging	Het
Ubn2	A	G	6: 38,460,079 (GRCm39)	I607V	probably benign	Het
Ubr2	A	T	17: 47,284,865 (GRCm39)	V551E	probably benign	Het
Vipr2	A	G	12: 116,058,344 (GRCm39)	N87S	probably damaging	Het
Vmn2r18	T	A	5: 151,485,132 (GRCm39)	K787N	probably damaging	Het
Wwc2	A	T	8: 48,353,859 (GRCm39)	W92R	probably damaging	Het
Zfp141	A	G	7: 42,125,639 (GRCm39)	Y278H	probably damaging	Het
Zfp827	T	C	8: 79,844,887 (GRCm39)	S686P	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
R9229:Slc24a4	UTSW	12	102,200,983 (GRCm39)	missense	possibly damaging	0.79
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'- TCAGGACATCCACGTACAGATC -3'
(R):5'- AAAGGGTAGCACATCTCCCC -3'

Sequencing Primer
(F):5'- CCTTTAGGTCTCATGAAAAGAAGG -3'
(R):5'- TCCCCAGAACTCCAGGCTG -3'

Posted On

2022-04-18