Mutagenetix > Incidental Mutations

Incidental Mutation 'R6038:Slc24a5'

479286

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

044208-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6038 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

125068124-125088677 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 125085731 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 317 (T317A)

Ref Sequence

ENSEMBL: ENSMUSP00000063887 (fasta)

Gene Model

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

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: T317A

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000063887
Gene: ENSMUSG00000035183
AA Change: T317A

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

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

Meta Mutation Damage Score

0.0717

Coding Region Coverage

1x: 99.8%
3x: 99.1%
10x: 93.7%
20x: 76.5%

Validation Efficiency

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc10	A	G	17: 46,304,360	C1327R	probably damaging	Het
Adcy7	A	G	8: 88,322,980	T704A	probably benign	Het
Adgra3	A	T	5: 49,999,145	Y414*	probably null	Het
Adgrf1	T	C	17: 43,295,209	S75P	probably benign	Het
Antxr1	C	A	6: 87,287,000		probably null	Het
Arid1b	A	T	17: 5,336,682	Y1470F	probably benign	Het
Baiap3	T	C	17: 25,246,334	D649G	probably damaging	Het
BC067074	G	A	13: 113,318,619	V400M	possibly damaging	Het
Cabin1	A	G	10: 75,739,366	V615A	probably benign	Het
Cntnap1	G	A	11: 101,184,636	R880Q	probably benign	Het
Col28a1	T	C	6: 8,013,140	T971A	probably benign	Het
Coro7	A	T	16: 4,679,550		probably null	Het
Defb19	T	G	2: 152,576,267		probably null	Het
Dnah17	T	C	11: 118,055,889	D3045G	probably benign	Het
Dock4	A	T	12: 40,733,351		probably null	Het
Egln3	A	G	12: 54,181,690	V210A	probably damaging	Het
Epb41l4a	T	C	18: 33,854,335	S330G	probably benign	Het
Epha7	G	A	4: 28,821,521	E229K	probably damaging	Het
Fam71a	C	T	1: 191,162,722	E575K	probably damaging	Het
Fam71e1	C	T	7: 44,500,295	R147W	probably damaging	Het
Fam71e2	T	C	7: 4,753,595		probably null	Het
Fetub	C	T	16: 22,932,331	R143C	probably damaging	Het
Gxylt2	T	A	6: 100,804,594	L410Q	probably damaging	Het
H2-M10.3	C	A	17: 36,368,395	C6F	probably benign	Het
Hecw1	G	T	13: 14,346,062	Q197K	probably benign	Het
Hk3	T	C	13: 55,006,560	M778V	probably benign	Het
Hydin	A	G	8: 110,599,031	T4691A	probably benign	Het
Kndc1	CT	C	7: 139,923,775		probably null	Het
Larp1	A	G	11: 58,041,605	E204G	possibly damaging	Het
Lrp12	A	C	15: 39,872,380	W738G	probably damaging	Het
March10	A	G	11: 105,402,051	S72P	probably damaging	Het
Mdga2	A	T	12: 66,630,053	D488E	probably damaging	Het
Mrc1	G	C	2: 14,257,071	W290C	probably damaging	Het
Nhp2	T	C	11: 51,620,085	V55A	probably benign	Het
Olfr1116	T	A	2: 87,269,267	I141N	possibly damaging	Het
Olfr58	A	G	9: 19,783,562	Y143C	probably benign	Het
Olfr741	T	C	14: 50,486,220	L254P	probably damaging	Het
Osbpl7	C	T	11: 97,050,716	P22S	probably benign	Het
Pebp1	A	T	5: 117,284,105	L124Q	probably benign	Het
Pfkp	G	T	13: 6,597,969	H524N	probably benign	Het
Pnmt	G	A	11: 98,387,768	D187N	probably damaging	Het
Ppl	A	T	16: 5,102,581	I355K	possibly damaging	Het
Prom1	A	T	5: 44,001,793	Y836N	probably damaging	Het
Rubcnl	T	C	14: 75,031,970	S23P	probably benign	Het
Sap130	T	A	18: 31,680,486	I532N	probably damaging	Het
Serpina1e	A	T	12: 103,946,836		probably null	Het
Skiv2l2	A	T	13: 112,891,290	S679T	probably benign	Het
Slc12a3	T	G	8: 94,330,472	S124R	probably benign	Het
Smarcad1	T	C	6: 65,073,248	S284P	possibly damaging	Het
Spag9	C	G	11: 94,112,092	R724G	probably damaging	Het
Speg	T	C	1: 75,418,459		probably null	Het
Steap3	A	G	1: 120,241,641	Y271H	probably damaging	Het
Syne2	C	T	12: 75,878,384	Q44*	probably null	Het
Syt16	G	A	12: 74,222,535		probably null	Het
Tas2r114	A	T	6: 131,689,481	C195S	possibly damaging	Het
Tcl1b4	T	C	12: 105,202,507	M10T	possibly damaging	Het
Tln1	G	C	4: 43,555,052	F259L	probably damaging	Het
Vmn2r60	C	A	7: 42,194,962	A583D	probably benign	Het
Wdhd1	T	C	14: 47,263,580	Q455R	possibly damaging	Het
Wdr17	A	G	8: 54,632,311		probably null	Het
Xbp1	T	C	11: 5,524,798	L233P	probably benign	Het
Zbtb17	A	G	4: 141,464,441	E288G	probably benign	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
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
R6114:Slc24a5	UTSW	2	125083092	missense	probably benign	0.01
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
X0067:Slc24a5	UTSW	2	125087503	missense	possibly damaging	0.95

Predicted Primers

Posted On

2017-06-26