Mutagenetix > Incidental Mutations

Incidental Mutation 'R0284:Slc24a4'

24627

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

038505-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0284 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

102128733-102267091 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 102260481 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 492 (V492A)

Ref Sequence

ENSEMBL: ENSMUSP00000078030 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000079020
AA Change: V492A

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

SMART Domains

Protein: ENSMUSP00000078030
Gene: ENSMUSG00000041771
AA Change: V492A

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: V490A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000124513
Gene: ENSMUSG00000041771
AA Change: V490A

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

unknown
Transcript: ENSMUST00000161325
AA Change: V489A

SMART Domains

Protein: ENSMUSP00000125012
Gene: ENSMUSG00000041771
AA Change: V489A

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

0.2376

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.9%
20x: 92.4%

Validation Efficiency

100% (61/61)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110017D15Rik	T	G	4: 41,507,538	E150A	probably damaging	Het
Akap2	T	C	4: 57,855,207	F220L	probably damaging	Het
Alkbh6	A	G	7: 30,313,988	T161A	probably benign	Het
Alox12e	A	G	11: 70,320,899		probably benign	Het
Ap1g2	A	G	14: 55,101,692		probably benign	Het
Arid2	A	T	15: 96,378,967		probably benign	Het
Bmp2k	A	T	5: 97,068,455	H604L	unknown	Het
Cacna1a	A	T	8: 84,612,285	M1705L	probably damaging	Het
Cacna1d	A	T	14: 30,072,105	D1526E	probably damaging	Het
Ccdc171	A	G	4: 83,549,738	R107G	possibly damaging	Het
Cklf	T	C	8: 104,261,575		probably benign	Het
Crabp1	A	G	9: 54,764,926	K9E	probably benign	Het
Cspg4	A	G	9: 56,886,139	D386G	probably damaging	Het
Cyp3a41b	G	A	5: 145,578,204		probably benign	Het
Dsg1a	T	A	18: 20,331,627	V393E	probably damaging	Het
Ednrb	C	T	14: 103,820,013	G371D	probably damaging	Het
Efcab5	T	C	11: 77,103,527		probably benign	Het
Exoc2	A	T	13: 30,877,625		probably benign	Het
Fbn2	G	A	18: 58,050,290		probably benign	Het
Foxo6	T	C	4: 120,269,002	S199G	probably benign	Het
Fpr1	T	A	17: 17,877,356	I124F	probably damaging	Het
Gk5	A	T	9: 96,181,770		probably null	Het
Gys1	A	T	7: 45,436,719		probably benign	Het
Igfbp1	T	C	11: 7,198,103	S49P	probably damaging	Het
Incenp	A	T	19: 9,893,993	S91T	unknown	Het
Itpkc	G	A	7: 27,214,543	R498*	probably null	Het
Kat6a	A	G	8: 22,939,803	T1725A	unknown	Het
Kiz	T	A	2: 146,863,810	C97S	probably benign	Het
Kri1	A	G	9: 21,276,552		probably benign	Het
Lipn	A	G	19: 34,080,706	S276G	possibly damaging	Het
Llgl1	A	G	11: 60,712,141	T881A	probably damaging	Het
Man1a2	T	C	3: 100,684,786	H26R	probably damaging	Het
Map3k5	T	A	10: 20,000,613	F173I	probably damaging	Het
Miox	C	T	15: 89,336,274	L189F	possibly damaging	Het
Mipol1	A	G	12: 57,457,069	Q341R	probably damaging	Het
Mllt6	G	T	11: 97,678,605	A928S	probably benign	Het
Ncoa6	TGC	TGCGC	2: 155,408,291		probably null	Het
Nipsnap3a	C	T	4: 52,997,178	T150I	probably benign	Het
Nsl1	A	G	1: 191,065,230	E97G	probably damaging	Het
Olfr1278	T	C	2: 111,292,586	V106A	probably benign	Het
Olfr251	G	A	9: 38,378,584	M234I	probably benign	Het
Olfr736	G	A	14: 50,392,995	V80M	probably damaging	Het
Olfr830	A	T	9: 18,875,552	Y72F	probably benign	Het
Pdcd6ip	A	G	9: 113,662,504	L552S	probably damaging	Het
Plekhf2	T	C	4: 10,990,595		probably benign	Het
Prdm1	T	C	10: 44,456,626	E96G	probably damaging	Het
Prpf40a	T	A	2: 53,150,647	E608D	probably damaging	Het
Prpf40b	A	T	15: 99,316,393		probably benign	Het
Rag2	T	C	2: 101,630,119	V258A	probably damaging	Het
S100a5	A	G	3: 90,611,574	I68V	probably benign	Het
Serpinb8	G	A	1: 107,602,918		probably null	Het
Spag6l	T	A	16: 16,780,766	Q287L	probably damaging	Het
Synpo2	C	T	3: 123,079,734	W211*	probably null	Het
Tgtp1	A	G	11: 48,987,143	V245A	probably benign	Het
Tmem144	G	A	3: 79,839,273		probably benign	Het
Trerf1	A	G	17: 47,319,545		noncoding transcript	Het
Ttn	G	C	2: 76,846,704		probably benign	Het
Vmn1r28	G	A	6: 58,265,717	A182T	probably benign	Het
Vps13d	A	T	4: 145,144,802	M1900K	probably benign	Het
Vps41	A	T	13: 18,853,440	D691V	probably damaging	Het
Zfp518b	T	C	5: 38,671,740	Y974C	probably damaging	Het
Zscan29	A	T	2: 121,166,733		probably benign	Het

Other mutations in Slc24a4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01358:Slc24a4	APN	12	102223635	missense	probably benign	0.09
IGL01724:Slc24a4	APN	12	102218960	missense	possibly damaging	0.78
IGL01767:Slc24a4	APN	12	102223687	splice site	probably benign
IGL01814:Slc24a4	APN	12	102254618	missense	probably benign	0.00
IGL02047:Slc24a4	APN	12	102254623	missense	probably damaging	1.00
IGL02449:Slc24a4	APN	12	102227082	missense	probably benign	0.00
IGL02632:Slc24a4	APN	12	102234682	missense	probably benign	0.15
IGL03251:Slc24a4	APN	12	102222825	missense	probably damaging	0.98
spindly	UTSW	12	102264944	critical splice donor site	probably null
R0207:Slc24a4	UTSW	12	102228951	critical splice donor site	probably null
R0506:Slc24a4	UTSW	12	102131623	critical splice donor site	probably null
R1903:Slc24a4	UTSW	12	102131617	missense	probably benign	0.00
R2004:Slc24a4	UTSW	12	102213907	missense	probably damaging	1.00
R2126:Slc24a4	UTSW	12	102222759	missense	probably damaging	1.00
R2518:Slc24a4	UTSW	12	102222051	missense	probably benign	0.02
R3498:Slc24a4	UTSW	12	102234692	missense	probably benign
R3620:Slc24a4	UTSW	12	102218963	missense	probably damaging	1.00
R3621:Slc24a4	UTSW	12	102218963	missense	probably damaging	1.00
R4917:Slc24a4	UTSW	12	102264944	critical splice donor site	probably null
R5028:Slc24a4	UTSW	12	102264370	missense	probably damaging	1.00
R5886:Slc24a4	UTSW	12	102260415	missense	probably damaging	1.00
R5914:Slc24a4	UTSW	12	102234790	missense	probably damaging	1.00
R6257:Slc24a4	UTSW	12	102254510	missense	probably benign	0.00
R6305:Slc24a4	UTSW	12	102222101	missense	possibly damaging	0.84
R6313:Slc24a4	UTSW	12	102254510	missense	probably benign	0.00
R6734:Slc24a4	UTSW	12	102219000	missense	probably damaging	1.00
R7378:Slc24a4	UTSW	12	102239176	missense	probably benign	0.06
R7419:Slc24a4	UTSW	12	102227091	critical splice donor site	probably null
R7529:Slc24a4	UTSW	12	102264448	missense	probably benign	0.01
R7715:Slc24a4	UTSW	12	102218960	missense	possibly damaging	0.89
R7781:Slc24a4	UTSW	12	102234853	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- GGCCGTTACATTCTAAGTTGGCCC -3'
(R):5'- GCGACGAAATGAGTGCAGTACATTG -3'

Sequencing Primer
(F):5'- AAGTTGGCCCTGATCCCTG -3'
(R):5'- ctcctccacaccccccc -3'

Posted On

2013-04-16