Mutagenetix > Incidental Mutation

Incidental Mutation 'R2518:Slc24a4'

254101

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

040422-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2518 (G1)

Quality Score

187

Status

Not validated

Chromosome

Chromosomal Location

102094992-102233350 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 102188310 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 134 (H134Q)

Ref Sequence

ENSEMBL: ENSMUSP00000124513 (fasta)

Gene Model

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

AlphaFold

Q8CGQ8

Predicted Effect

probably benign
Transcript: ENSMUST00000079020
AA Change: H117Q

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000078030
Gene: ENSMUSG00000041771
AA Change: H117Q

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 benign
Transcript: ENSMUST00000159329
AA Change: H134Q

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000124513
Gene: ENSMUSG00000041771
AA Change: H134Q

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: H133Q

SMART Domains

Protein: ENSMUSP00000125012
Gene: ENSMUSG00000041771
AA Change: H133Q

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: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.7%

Validation Efficiency

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam18	A	G	8: 25,127,157 (GRCm39)	C480R	probably damaging	Het
Aftph	G	T	11: 20,675,797 (GRCm39)	T604K	probably damaging	Het
Bivm	T	C	1: 44,168,775 (GRCm39)	V279A	probably damaging	Het
C2cd2	G	A	16: 97,723,286 (GRCm39)	T77I	probably benign	Het
Ccdc146	T	C	5: 21,510,526 (GRCm39)	H527R	probably benign	Het
Cd226	A	G	18: 89,225,451 (GRCm39)	N116S	probably benign	Het
Cit	A	G	5: 116,125,105 (GRCm39)	K1612E	probably damaging	Het
Cmtr1	T	A	17: 29,900,954 (GRCm39)	Y663*	probably null	Het
Col3a1	T	A	1: 45,376,672 (GRCm39)		probably benign	Het
Copa	A	G	1: 171,947,468 (GRCm39)	N1095D	probably benign	Het
Cpne1	G	T	2: 155,915,891 (GRCm39)	A433E	probably damaging	Het
Cyfip1	C	T	7: 55,578,032 (GRCm39)	L1181F	probably damaging	Het
Dnajc6	T	A	4: 101,470,127 (GRCm39)	I220N	probably damaging	Het
Duxbl1	G	C	14: 25,988,172 (GRCm39)		probably benign	Het
Fam135b	C	T	15: 71,335,760 (GRCm39)	R478H	probably benign	Het
Fam91a1	T	A	15: 58,322,449 (GRCm39)	S734T	possibly damaging	Het
Fut10	T	G	8: 31,726,495 (GRCm39)	S417A	probably benign	Het
Gm9945	C	T	11: 53,371,163 (GRCm39)		probably benign	Het
Golga4	A	G	9: 118,385,680 (GRCm39)	E934G	probably damaging	Het
Gpat2	G	A	2: 127,270,211 (GRCm39)	V75M	probably damaging	Het
Hdac5	A	G	11: 102,087,962 (GRCm39)	V949A	probably damaging	Het
Hdgfl1	G	T	13: 26,953,732 (GRCm39)	L114I	probably benign	Het
Ifi27l2b	T	A	12: 103,422,083 (GRCm39)	M94L	unknown	Het
Irs2	C	A	8: 11,055,352 (GRCm39)	A1027S	probably benign	Het
Itga2	A	T	13: 115,017,578 (GRCm39)	C111S	probably damaging	Het
Khdrbs1	T	C	4: 129,614,540 (GRCm39)	T338A	probably benign	Het
Klk1	T	C	7: 43,870,161 (GRCm39)		probably null	Het
Kmt2b	T	C	7: 30,275,493 (GRCm39)	N1822S	probably benign	Het
Lrig3	T	C	10: 125,830,310 (GRCm39)	I136T	probably benign	Het
Lyar	T	A	5: 38,385,276 (GRCm39)	D105E	probably benign	Het
Mat1a	T	A	14: 40,844,469 (GRCm39)	D366E	probably benign	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Naip1	A	T	13: 100,559,727 (GRCm39)	D1092E	probably benign	Het
Neb	T	A	2: 52,139,523 (GRCm39)	K95*	probably null	Het
Nectin4	A	G	1: 171,207,776 (GRCm39)	D56G	probably benign	Het
Nup58	A	T	14: 60,470,109 (GRCm39)	F334Y	probably damaging	Het
Or14a256	A	T	7: 86,265,395 (GRCm39)	F153I	probably benign	Het
Or9i1	A	G	19: 13,839,673 (GRCm39)	N172S	probably damaging	Het
Pde8a	C	A	7: 80,967,170 (GRCm39)	T437K	probably benign	Het
Ppp1r3a	A	T	6: 14,719,377 (GRCm39)	N512K	possibly damaging	Het
Pramel12	A	G	4: 143,144,473 (GRCm39)	Q273R	possibly damaging	Het
Rad51ap2	A	G	12: 11,507,068 (GRCm39)	D330G	probably damaging	Het
Ren1	G	A	1: 133,287,862 (GRCm39)	A399T	probably damaging	Het
Rnft2	G	T	5: 118,332,670 (GRCm39)		probably benign	Het
Septin14	A	T	5: 129,776,099 (GRCm39)	S27T	probably benign	Het
Shld1	T	A	2: 132,592,447 (GRCm39)	S165T	probably damaging	Het
Shox2	T	C	3: 66,885,692 (GRCm39)	K128E	possibly damaging	Het
Skint1	T	C	4: 111,882,678 (GRCm39)	W241R	probably benign	Het
Slc25a36	A	T	9: 96,961,124 (GRCm39)	L165Q	possibly damaging	Het
Slc35f1	A	G	10: 52,949,630 (GRCm39)	I240V	probably benign	Het
Slc66a1	A	G	4: 139,029,810 (GRCm39)	F74L	probably damaging	Het
Tab2	G	A	10: 7,783,245 (GRCm39)	P679L	probably damaging	Het
Tarbp2	A	G	15: 102,426,992 (GRCm39)	E3G	possibly damaging	Het
Tas2r130	A	T	6: 131,607,036 (GRCm39)	I253K	probably damaging	Het
Timm44	A	C	8: 4,316,588 (GRCm39)	C319G	probably null	Het
Tjap1	A	T	17: 46,571,021 (GRCm39)	N165K	probably damaging	Het
Tmem63b	A	G	17: 45,977,080 (GRCm39)	I429T	probably benign	Het
Trabd2b	A	T	4: 114,457,100 (GRCm39)	D339V	probably damaging	Het
Tst	T	C	15: 78,290,033 (GRCm39)	M1V	probably null	Het
Ube4a	A	T	9: 44,859,435 (GRCm39)	N335K	probably benign	Het
Vps54	C	T	11: 21,256,394 (GRCm39)	T633M	probably benign	Het
Zfhx4	C	T	3: 5,468,418 (GRCm39)	P2859S	probably benign	Het
Zfp953	A	G	13: 67,496,003 (GRCm39)	Y13H	probably damaging	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
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
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'- AGCACATTCAGCAAGCAGAG -3'
(R):5'- ACTTGGAGCTGGTAAATGCC -3'

Sequencing Primer
(F):5'- TTCCTCAAGGGTCGTGGACAG -3'
(R):5'- AGCTGGTAAATGCCCCACTG -3'

Posted On

2014-12-04