Mutagenetix > Incidental Mutation

Incidental Mutation 'R0344:Slc24a5'

26408

Institutional Source

Beutler Lab

Gene Symbol

Slc24a5

Ensembl Gene

ENSMUSG00000035183

Gene Name

solute carrier family 24, member 5

Synonyms

Oca6, F630045L20Rik, NCX5, NCKX5

MMRRC Submission

038551-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0344 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

124910076-124930316 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 124927621 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 307 (I307V)

Ref Sequence

ENSEMBL: ENSMUSP00000063887 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067780] [ENSMUST00000070353] [ENSMUST00000110501] [ENSMUST00000142718] [ENSMUST00000152367] [ENSMUST00000147105]

AlphaFold

Q8C261

Predicted Effect

probably benign
Transcript: ENSMUST00000067780

SMART Domains

Protein: ENSMUSP00000066312
Gene: ENSMUSG00000027201

Domain	Start	End	E-Value	Type
RRM	92	165	1.84e-22	SMART
low complexity region	198	211	N/A	INTRINSIC
RRM	225	297	5.12e-21	SMART
low complexity region	318	335	N/A	INTRINSIC
low complexity region	430	450	N/A	INTRINSIC
RRM	498	569	6.15e-24	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000070353
AA Change: I307V

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000063887
Gene: ENSMUSG00000035183
AA Change: I307V

Domain	Start	End	E-Value	Type
transmembrane domain	13	32	N/A	INTRINSIC
Pfam:Na_Ca_ex	72	216	1.1e-24	PFAM
low complexity region	274	290	N/A	INTRINSIC
low complexity region	311	324	N/A	INTRINSIC
Pfam:Na_Ca_ex	334	485	7.6e-31	PFAM
low complexity region	488	500	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000089825

SMART Domains

Protein: ENSMUSP00000087258
Gene: ENSMUSG00000027201

Domain	Start	End	E-Value	Type
RRM	48	121	1.84e-22	SMART
low complexity region	154	167	N/A	INTRINSIC
RRM	181	253	5.12e-21	SMART
low complexity region	274	291	N/A	INTRINSIC
low complexity region	386	406	N/A	INTRINSIC
RRM	454	525	6.15e-24	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000110501

SMART Domains

Protein: ENSMUSP00000106127
Gene: ENSMUSG00000027201

Domain	Start	End	E-Value	Type
RRM	92	165	1.84e-22	SMART
low complexity region	198	211	N/A	INTRINSIC
RRM	225	297	5.12e-21	SMART
low complexity region	318	335	N/A	INTRINSIC
low complexity region	430	450	N/A	INTRINSIC
RRM	498	569	6.15e-24	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129945

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139615

Predicted Effect

probably benign
Transcript: ENSMUST00000142718

SMART Domains

Protein: ENSMUSP00000115519
Gene: ENSMUSG00000027201

Domain	Start	End	E-Value	Type
RRM	92	165	1.84e-22	SMART
low complexity region	198	211	N/A	INTRINSIC
RRM	225	297	5.12e-21	SMART
low complexity region	318	335	N/A	INTRINSIC
low complexity region	351	376	N/A	INTRINSIC
low complexity region	427	443	N/A	INTRINSIC
RRM	491	562	6.15e-24	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149963

Predicted Effect

probably benign
Transcript: ENSMUST00000152367

SMART Domains

Protein: ENSMUSP00000123088
Gene: ENSMUSG00000027201

Domain	Start	End	E-Value	Type
RRM	92	165	1.84e-22	SMART
low complexity region	198	211	N/A	INTRINSIC
RRM	225	297	5.12e-21	SMART
low complexity region	318	335	N/A	INTRINSIC
low complexity region	351	376	N/A	INTRINSIC
low complexity region	447	467	N/A	INTRINSIC
RRM	515	586	6.15e-24	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000147105

SMART Domains

Protein: ENSMUSP00000114817
Gene: ENSMUSG00000027201

Domain	Start	End	E-Value	Type
RRM	92	165	1.84e-22	SMART
low complexity region	198	211	N/A	INTRINSIC
RRM	225	297	5.12e-21	SMART
low complexity region	318	335	N/A	INTRINSIC
low complexity region	410	426	N/A	INTRINSIC
RRM	474	545	6.15e-24	SMART

Meta Mutation Damage Score

0.0915

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.3%
20x: 93.6%

Validation Efficiency

99% (81/82)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the potassium-dependent sodium/calcium exchanger family and encodes an intracellular membrane protein with 2 large hydrophilic loops and 2 sets of multiple transmembrane-spanning segments. Sequence variation in this gene has been associated with differences in skin pigmentation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit hypopigmentation and ocular albinism. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930553J12Rik	T	A	16: 88,617,189 (GRCm39)	C29*	probably null	Het
Abca4	G	A	3: 121,877,613 (GRCm39)	C324Y	probably damaging	Het
Ablim2	T	G	5: 35,994,277 (GRCm39)		probably benign	Het
Abr	A	T	11: 76,369,870 (GRCm39)	V115E	probably damaging	Het
Adgrl2	C	T	3: 148,571,231 (GRCm39)		probably null	Het
Aff3	A	T	1: 38,243,013 (GRCm39)	S936T	probably benign	Het
Agap3	T	C	5: 24,656,200 (GRCm39)		probably benign	Het
Ahrr	T	A	13: 74,362,705 (GRCm39)	S393C	probably damaging	Het
Amfr	T	C	8: 94,713,998 (GRCm39)		probably null	Het
Ankrd26	C	A	6: 118,484,598 (GRCm39)		probably null	Het
Asxl3	G	A	18: 22,650,668 (GRCm39)	V886I	probably benign	Het
Atp5f1a	C	A	18: 77,867,895 (GRCm39)	N356K	probably damaging	Het
AU021092	A	T	16: 5,040,031 (GRCm39)	M31K	possibly damaging	Het
Bicral	A	G	17: 47,124,978 (GRCm39)		probably benign	Het
Btbd9	C	T	17: 30,493,916 (GRCm39)	D492N	possibly damaging	Het
C3ar1	T	C	6: 122,827,731 (GRCm39)	D162G	probably benign	Het
Camkk2	C	T	5: 122,901,940 (GRCm39)	C123Y	probably benign	Het
Casp8ap2	A	T	4: 32,644,079 (GRCm39)	I1051F	probably damaging	Het
Catsperg1	A	T	7: 28,894,965 (GRCm39)	V544E	probably damaging	Het
Cdc27	G	A	11: 104,417,817 (GRCm39)		probably benign	Het
Colec12	C	T	18: 9,858,921 (GRCm39)	P568L	unknown	Het
Dennd6b	T	C	15: 89,080,432 (GRCm39)	Q56R	probably benign	Het
Dmac2l	T	C	12: 69,787,663 (GRCm39)		probably benign	Het
Fbxl17	G	A	17: 63,692,062 (GRCm39)		probably benign	Het
Fubp1	T	C	3: 151,925,350 (GRCm39)	V164A	probably damaging	Het
Gdap2	G	A	3: 100,085,572 (GRCm39)	G165S	probably damaging	Het
Gns	A	G	10: 121,219,328 (GRCm39)	K352E	probably benign	Het
Gtf2ird2	C	T	5: 134,220,088 (GRCm39)	T22M	probably damaging	Het
Herc3	A	G	6: 58,845,613 (GRCm39)		probably benign	Het
Hp1bp3	C	T	4: 137,964,520 (GRCm39)	S348F	probably damaging	Het
Inpp1	A	T	1: 52,838,513 (GRCm39)	F45L	probably damaging	Het
Ipo4	T	C	14: 55,863,399 (GRCm39)	Q1073R	possibly damaging	Het
Itgae	A	G	11: 73,008,973 (GRCm39)	K485E	probably benign	Het
Jak2	G	A	19: 29,261,029 (GRCm39)	V342I	probably damaging	Het
Kptn	C	A	7: 15,859,666 (GRCm39)	Q297K	probably damaging	Het
Lims2	A	G	18: 32,077,573 (GRCm39)	E103G	probably benign	Het
Mthfr	C	G	4: 148,139,885 (GRCm39)	S618W	probably damaging	Het
Nanos3	C	T	8: 84,902,763 (GRCm39)	R133Q	probably damaging	Het
Nup133	A	G	8: 124,644,185 (GRCm39)	V727A	possibly damaging	Het
Oas2	T	G	5: 120,881,152 (GRCm39)	E313A	probably damaging	Het
Or10d4c	G	A	9: 39,558,646 (GRCm39)	C208Y	probably damaging	Het
Or52b2	C	A	7: 104,986,814 (GRCm39)	M36I	probably benign	Het
Or5b105	G	A	19: 13,080,642 (GRCm39)	R3C	possibly damaging	Het
Or5m8	T	A	2: 85,822,726 (GRCm39)	C188*	probably null	Het
Or5p63	A	T	7: 107,810,949 (GRCm39)	Y262*	probably null	Het
Park7	A	G	4: 150,992,806 (GRCm39)	V20A	possibly damaging	Het
Pgap4	T	C	4: 49,586,566 (GRCm39)	T201A	probably benign	Het
Phldb1	C	A	9: 44,612,964 (GRCm39)	V919L	probably benign	Het
Pkhd1l1	C	A	15: 44,460,407 (GRCm39)	H4205Q	probably benign	Het
Plekhg3	G	T	12: 76,613,040 (GRCm39)	E449*	probably null	Het
Pramel26	A	T	4: 143,537,338 (GRCm39)	I331N	probably damaging	Het
Pstpip1	T	C	9: 56,033,929 (GRCm39)	V301A	probably benign	Het
Ptdss1	G	A	13: 67,081,636 (GRCm39)	R22H	probably damaging	Het
Ptprq	A	G	10: 107,541,443 (GRCm39)	V361A	probably benign	Het
Ralgapa2	A	T	2: 146,188,714 (GRCm39)	V1309E	possibly damaging	Het
Rere	T	C	4: 150,695,438 (GRCm39)		probably benign	Het
Sbk3	T	A	7: 4,970,404 (GRCm39)	T322S	possibly damaging	Het
Scn9a	T	A	2: 66,335,354 (GRCm39)	I1203L	probably damaging	Het
Setdb1	A	T	3: 95,233,442 (GRCm39)		probably benign	Het
Sik3	C	A	9: 46,120,109 (GRCm39)	Q683K	probably damaging	Het
Smg6	A	G	11: 74,820,647 (GRCm39)	D306G	probably damaging	Het
Snx13	G	A	12: 35,136,899 (GRCm39)	W120*	probably null	Het
Snx5	A	G	2: 144,099,128 (GRCm39)		probably benign	Het
Srsf5	T	C	12: 80,994,298 (GRCm39)	S76P	probably benign	Het
Stard6	A	G	18: 70,629,186 (GRCm39)	D31G	probably damaging	Het
Taf3	A	G	2: 9,956,709 (GRCm39)	M333T	probably benign	Het
Taf6	T	G	5: 138,179,409 (GRCm39)	I377L	probably benign	Het
Taf8	G	T	17: 47,804,505 (GRCm39)	N252K	probably benign	Het
Tfap2c	A	G	2: 172,393,423 (GRCm39)	T113A	probably benign	Het
Tmtc4	C	T	14: 123,215,572 (GRCm39)	V25M	probably damaging	Het
Topbp1	T	A	9: 103,205,886 (GRCm39)	D841E	probably damaging	Het
Topbp1	T	A	9: 103,185,932 (GRCm39)		probably benign	Het
Ttn	A	T	2: 76,542,833 (GRCm39)	D33384E	probably damaging	Het
Unc13c	T	C	9: 73,838,067 (GRCm39)	E928G	probably benign	Het
Vav1	T	C	17: 57,603,090 (GRCm39)	F81L	probably damaging	Het
Vmn2r63	A	G	7: 42,553,042 (GRCm39)	I738T	probably damaging	Het
Vmn2r87	C	T	10: 130,315,806 (GRCm39)	E87K	probably damaging	Het
Zfp229	A	T	17: 21,964,822 (GRCm39)	M351L	probably benign	Het

Other mutations in Slc24a5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00776:Slc24a5	APN	2	124,922,809 (GRCm39)	missense	probably damaging	1.00
IGL01307:Slc24a5	APN	2	124,922,800 (GRCm39)	missense	probably damaging	1.00
IGL01926:Slc24a5	APN	2	124,910,823 (GRCm39)	missense	probably benign	0.01
IGL02090:Slc24a5	APN	2	124,910,218 (GRCm39)	missense	probably benign	0.25
IGL02313:Slc24a5	APN	2	124,927,567 (GRCm39)	unclassified	probably benign
IGL02328:Slc24a5	APN	2	124,922,559 (GRCm39)	missense	probably damaging	1.00
IGL02743:Slc24a5	APN	2	124,930,154 (GRCm39)	missense	probably damaging	1.00
IGL02969:Slc24a5	APN	2	124,925,147 (GRCm39)	missense	probably damaging	1.00
IGL03212:Slc24a5	APN	2	124,922,750 (GRCm39)	missense	probably damaging	1.00
IGL03258:Slc24a5	APN	2	124,922,625 (GRCm39)	critical splice donor site	probably null
Scarce	UTSW	2	124,922,568 (GRCm39)	missense	probably damaging	1.00
R0811:Slc24a5	UTSW	2	124,910,724 (GRCm39)	missense	probably damaging	0.98
R0812:Slc24a5	UTSW	2	124,910,724 (GRCm39)	missense	probably damaging	0.98
R1018:Slc24a5	UTSW	2	124,910,827 (GRCm39)	missense	probably damaging	1.00
R1574:Slc24a5	UTSW	2	124,922,782 (GRCm39)	missense	probably damaging	0.96
R1574:Slc24a5	UTSW	2	124,922,782 (GRCm39)	missense	probably damaging	0.96
R1753:Slc24a5	UTSW	2	124,925,115 (GRCm39)	missense	possibly damaging	0.53
R2147:Slc24a5	UTSW	2	124,929,361 (GRCm39)	missense	probably damaging	1.00
R4934:Slc24a5	UTSW	2	124,929,940 (GRCm39)	missense	probably damaging	1.00
R4964:Slc24a5	UTSW	2	124,910,188 (GRCm39)	missense	probably benign	0.20
R4966:Slc24a5	UTSW	2	124,910,188 (GRCm39)	missense	probably benign	0.20
R5225:Slc24a5	UTSW	2	124,927,739 (GRCm39)	missense	probably damaging	0.99
R5275:Slc24a5	UTSW	2	124,927,781 (GRCm39)	missense	probably benign	0.09
R5438:Slc24a5	UTSW	2	124,910,785 (GRCm39)	missense	probably damaging	1.00
R5866:Slc24a5	UTSW	2	124,927,591 (GRCm39)	missense	probably damaging	1.00
R6038:Slc24a5	UTSW	2	124,927,651 (GRCm39)	missense	probably benign	0.04
R6038:Slc24a5	UTSW	2	124,927,651 (GRCm39)	missense	probably benign	0.04
R6114:Slc24a5	UTSW	2	124,925,012 (GRCm39)	missense	probably benign	0.01
R6211:Slc24a5	UTSW	2	124,930,171 (GRCm39)	missense	probably benign	0.23
R6516:Slc24a5	UTSW	2	124,930,027 (GRCm39)	missense	probably benign	0.01
R6675:Slc24a5	UTSW	2	124,922,615 (GRCm39)	missense	possibly damaging	0.82
R6677:Slc24a5	UTSW	2	124,922,615 (GRCm39)	missense	possibly damaging	0.82
R6826:Slc24a5	UTSW	2	124,910,778 (GRCm39)	missense	probably benign	0.00
R7100:Slc24a5	UTSW	2	124,922,591 (GRCm39)	missense	probably damaging	1.00
R7122:Slc24a5	UTSW	2	124,930,111 (GRCm39)	missense	probably benign	0.15
R7381:Slc24a5	UTSW	2	124,910,869 (GRCm39)	missense	probably benign	0.29
R7398:Slc24a5	UTSW	2	124,927,694 (GRCm39)	nonsense	probably null
R7401:Slc24a5	UTSW	2	124,930,111 (GRCm39)	missense	probably benign	0.15
R8219:Slc24a5	UTSW	2	124,927,575 (GRCm39)	critical splice acceptor site	probably null
R9227:Slc24a5	UTSW	2	124,922,568 (GRCm39)	missense	probably damaging	1.00
R9230:Slc24a5	UTSW	2	124,922,568 (GRCm39)	missense	probably damaging	1.00
X0067:Slc24a5	UTSW	2	124,929,423 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- GCACAGCTTATACTGTCTGCCTAGTTT -3'
(R):5'- TCCATACCTGTTACTGTGACCATCCAA -3'

Sequencing Primer
(F):5'- agaccgtttgacacagtcc -3'
(R):5'- GTTACTGTGACCATCCAAACTAGG -3'

Posted On

2013-04-16