Mutagenetix > Incidental Mutation

Incidental Mutation 'R6114:Slc24a5'

484994

Institutional Source

Beutler Lab

Gene Symbol

Slc24a5

Ensembl Gene

ENSMUSG00000035183

Gene Name

solute carrier family 24, member 5

Synonyms

Oca6, NCX5, F630045L20Rik, NCKX5

MMRRC Submission

044263-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6114 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

125068124-125088677 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 125083092 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 218 (T218A)

Ref Sequence

ENSEMBL: ENSMUSP00000063887 (fasta)

Gene Model

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

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: T218A

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000063887
Gene: ENSMUSG00000035183
AA Change: T218A

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: 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

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

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.0%

Validation Efficiency

94% (60/64)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamdec1	C	A	14: 68,571,803	V237L	probably benign	Het
Aff1	T	C	5: 103,842,297	S878P	probably damaging	Het
Ahcy	A	C	2: 155,062,159	L386R	probably damaging	Het
Ank2	T	C	3: 127,011,051	N607D	probably damaging	Het
Arid5b	T	C	10: 68,097,744	D776G	possibly damaging	Het
Art4	T	A	6: 136,857,213	T11S	unknown	Het
Blm	T	C	7: 80,513,487	T39A	probably damaging	Het
Cabin1	T	A	10: 75,747,971	M221L	probably benign	Het
Cacna1c	T	C	6: 118,596,140	T1675A	probably benign	Het
Cacnb2	A	T	2: 14,975,201	H285L	possibly damaging	Het
Cchcr1	A	G	17: 35,525,330	E339G	probably damaging	Het
Cd14	A	G	18: 36,725,953	W150R	probably damaging	Het
Cep162	A	G	9: 87,203,710	I1187T	probably benign	Het
Cntnap4	A	G	8: 112,841,753	H807R	probably damaging	Het
Copb1	T	A	7: 114,246,801	H178L	probably benign	Het
Cpxm2	A	G	7: 132,154,306	V103A	probably benign	Het
Egfr	A	G	11: 16,904,374	T849A	possibly damaging	Het
Endou	T	A	15: 97,713,876	K294*	probably null	Het
Fam208b	G	A	13: 3,590,081	T352M	probably damaging	Het
Gm884	T	A	11: 103,617,791		probably benign	Het
Hoxd9	A	G	2: 74,699,365	N322D	probably damaging	Het
Hsph1	C	A	5: 149,627,387	V416L	possibly damaging	Het
Igkv4-78	T	A	6: 69,059,759	T97S	possibly damaging	Het
Itga10	G	T	3: 96,649,035	C162F	probably damaging	Het
Lmod2	A	G	6: 24,603,692	E222G	probably damaging	Het
Lpar5	A	G	6: 125,081,676	N120S	probably damaging	Het
Lrrk2	A	G	15: 91,747,826	I1318V	probably benign	Het
Lst1	T	C	17: 35,188,360	T11A	possibly damaging	Het
Mfn1	C	A	3: 32,563,836	A106D	probably damaging	Het
Ms4a12	G	T	19: 11,215,290	N227K	probably benign	Het
Nr1h4	T	A	10: 89,478,816	N273Y	possibly damaging	Het
Nrd1	A	T	4: 109,044,585	K617M	probably damaging	Het
Olfr355	A	T	2: 36,927,689	C142S	possibly damaging	Het
Olfr516	A	T	7: 108,845,386	M208K	possibly damaging	Het
Olfr771	T	A	10: 129,160,333	H217L	probably benign	Het
Pcdhgc3	C	G	18: 37,807,872	T442R	probably benign	Het
Pcnx2	T	C	8: 125,773,947	N1468S	probably damaging	Het
Pde2a	A	T	7: 101,511,112		probably null	Het
Pitx2	C	G	3: 129,204,413		probably null	Het
Reck	T	A	4: 43,922,895	I390N	probably damaging	Het
Rora	A	G	9: 69,371,323	N254S	probably benign	Het
Samd4b	A	G	7: 28,522,792		probably null	Het
Scn8a	A	G	15: 101,040,596	T1949A	probably damaging	Het
Slc22a15	A	T	3: 101,860,852	Y346*	probably null	Het
Slc38a10	G	A	11: 120,129,312	Q305*	probably null	Het
Slc45a4	G	A	15: 73,605,604	P28S	probably damaging	Het
Smyd5	A	T	6: 85,440,262		probably benign	Het
Sox8	T	C	17: 25,567,520	D403G	probably damaging	Het
Stx7	A	G	10: 24,184,985		probably null	Het
Svil	T	C	18: 5,108,639	S1522P	probably damaging	Het
Sycp2	G	C	2: 178,348,245	R1403G	probably benign	Het
Tcf25	A	T	8: 123,384,375	K192M	probably damaging	Het
Tecpr1	C	T	5: 144,204,640	G804S	possibly damaging	Het
Teddm1a	C	G	1: 153,891,868	S26C	probably damaging	Het
Usp13	C	T	3: 32,854,669	P155S	probably damaging	Het
Usp17lb	T	A	7: 104,840,364	D451V	possibly damaging	Het
Vmn1r173	A	G	7: 23,702,829	N163S	possibly damaging	Het
Vmn2r103	G	T	17: 19,812,325	C787F	probably damaging	Het
Vmn2r106	G	A	17: 20,268,376	P587L	probably benign	Het
Wdr24	C	T	17: 25,824,605	H134Y	probably benign	Het
Zbtb40	T	A	4: 136,988,691	I988F	probably damaging	Het
Zfp536	A	T	7: 37,479,736	I84N	probably damaging	Het
Zfp651	T	A	9: 121,765,595	F540Y	probably damaging	Het

Other mutations in Slc24a5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00776:Slc24a5	APN	2	125080889	missense	probably damaging	1.00
IGL01307:Slc24a5	APN	2	125080880	missense	probably damaging	1.00
IGL01926:Slc24a5	APN	2	125068903	missense	probably benign	0.01
IGL02090:Slc24a5	APN	2	125068298	missense	probably benign	0.25
IGL02313:Slc24a5	APN	2	125085647	unclassified	probably benign
IGL02328:Slc24a5	APN	2	125080639	missense	probably damaging	1.00
IGL02743:Slc24a5	APN	2	125088234	missense	probably damaging	1.00
IGL02969:Slc24a5	APN	2	125083227	missense	probably damaging	1.00
IGL03212:Slc24a5	APN	2	125080830	missense	probably damaging	1.00
IGL03258:Slc24a5	APN	2	125080705	critical splice donor site	probably null
Scarce	UTSW	2	125080648	missense	probably damaging	1.00
R0344:Slc24a5	UTSW	2	125085701	missense	probably benign	0.03
R0811:Slc24a5	UTSW	2	125068804	missense	probably damaging	0.98
R0812:Slc24a5	UTSW	2	125068804	missense	probably damaging	0.98
R1018:Slc24a5	UTSW	2	125068907	missense	probably damaging	1.00
R1574:Slc24a5	UTSW	2	125080862	missense	probably damaging	0.96
R1574:Slc24a5	UTSW	2	125080862	missense	probably damaging	0.96
R1753:Slc24a5	UTSW	2	125083195	missense	possibly damaging	0.53
R2147:Slc24a5	UTSW	2	125087441	missense	probably damaging	1.00
R4934:Slc24a5	UTSW	2	125088020	missense	probably damaging	1.00
R4964:Slc24a5	UTSW	2	125068268	missense	probably benign	0.20
R4966:Slc24a5	UTSW	2	125068268	missense	probably benign	0.20
R5225:Slc24a5	UTSW	2	125085819	missense	probably damaging	0.99
R5275:Slc24a5	UTSW	2	125085861	missense	probably benign	0.09
R5438:Slc24a5	UTSW	2	125068865	missense	probably damaging	1.00
R5866:Slc24a5	UTSW	2	125085671	missense	probably damaging	1.00
R6038:Slc24a5	UTSW	2	125085731	missense	probably benign	0.04
R6038:Slc24a5	UTSW	2	125085731	missense	probably benign	0.04
R6211:Slc24a5	UTSW	2	125088251	missense	probably benign	0.23
R6516:Slc24a5	UTSW	2	125088107	missense	probably benign	0.01
R6675:Slc24a5	UTSW	2	125080695	missense	possibly damaging	0.82
R6677:Slc24a5	UTSW	2	125080695	missense	possibly damaging	0.82
R6826:Slc24a5	UTSW	2	125068858	missense	probably benign	0.00
R7100:Slc24a5	UTSW	2	125080671	missense	probably damaging	1.00
R7122:Slc24a5	UTSW	2	125088191	missense	probably benign	0.15
R7381:Slc24a5	UTSW	2	125068949	missense	probably benign	0.29
R7398:Slc24a5	UTSW	2	125085774	nonsense	probably null
R7401:Slc24a5	UTSW	2	125088191	missense	probably benign	0.15
R8219:Slc24a5	UTSW	2	125085655	critical splice acceptor site	probably null
R9227:Slc24a5	UTSW	2	125080648	missense	probably damaging	1.00
R9230:Slc24a5	UTSW	2	125080648	missense	probably damaging	1.00
X0067:Slc24a5	UTSW	2	125087503	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- TGTAACCATACTATAACCAAAACTGGG -3'
(R):5'- CCATGCAAGCTTAGAGAAAGTTG -3'

Sequencing Primer
(F):5'- TGGGTAAATAAAAGCATTTAGGAGTG -3'
(R):5'- TGGGAGTAACCGGAATCTTCC -3'

Posted On

2017-08-16