Mutagenetix > Incidental Mutation

Incidental Mutation 'R7401:Slc24a5'

574148

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

045483-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7401 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

124910076-124930316 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 124930111 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 471 (V471I)

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: V471I

PolyPhen 2 Score 0.149 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000063887
Gene: ENSMUSG00000035183
AA Change: V471I

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

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

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610318N02Rik	A	T	16: 16,936,268 (GRCm39)	L152Q	probably benign	Het
Abcg3	A	T	5: 105,114,640 (GRCm39)	N292K	probably damaging	Het
Adamts3	T	A	5: 89,855,309 (GRCm39)		probably null	Het
Adgrg7	T	C	16: 56,562,781 (GRCm39)	N519D	probably benign	Het
Adsl	A	G	15: 80,846,983 (GRCm39)	H263R	probably damaging	Het
Ak9	A	T	10: 41,299,000 (GRCm39)	D1567V	unknown	Het
Bscl2	T	C	19: 8,823,914 (GRCm39)	F280L	possibly damaging	Het
Cacna1b	T	A	2: 24,569,306 (GRCm39)	T873S	probably benign	Het
Cacna1c	T	C	6: 119,029,669 (GRCm39)		probably null	Het
Cast	G	T	13: 74,956,577 (GRCm39)	A18E	unknown	Het
Cd207	A	C	6: 83,654,830 (GRCm39)		probably benign	Het
Cd79b	A	G	11: 106,203,678 (GRCm39)	S130P	probably benign	Het
Cfap52	A	T	11: 67,840,459 (GRCm39)	N157K	probably benign	Het
Cfap57	C	T	4: 118,472,128 (GRCm39)	V84I	probably benign	Het
Chaf1b	G	T	16: 93,681,268 (GRCm39)		probably benign	Het
Cntn1	A	G	15: 92,215,870 (GRCm39)	I968V	probably benign	Het
Cntn5	C	T	9: 9,833,466 (GRCm39)	V362I	probably benign	Het
Crem	A	G	18: 3,295,329 (GRCm39)	S80P	probably damaging	Het
Csnk1g3	C	T	18: 54,063,390 (GRCm39)	T267I	probably damaging	Het
Cyth1	A	T	11: 118,073,077 (GRCm39)	N274K	possibly damaging	Het
Dicer1	C	T	12: 104,678,537 (GRCm39)	G594S	probably benign	Het
Enpp1	C	T	10: 24,521,180 (GRCm39)	C849Y	probably damaging	Het
Fam193a	A	G	5: 34,622,979 (GRCm39)	E1189G	possibly damaging	Het
Fermt1	C	A	2: 132,759,479 (GRCm39)	V426L	probably benign	Het
Fes	A	G	7: 80,028,524 (GRCm39)		probably null	Het
Gmeb1	C	A	4: 131,953,085 (GRCm39)	L560F	probably damaging	Het
Hace1	T	C	10: 45,546,722 (GRCm39)	L452P	probably damaging	Het
Hecw2	T	A	1: 53,943,502 (GRCm39)	H975L	probably damaging	Het
Idh2	GGTCCCAG	GG	7: 79,748,077 (GRCm39)		probably benign	Het
Il1r2	T	A	1: 40,162,370 (GRCm39)	C338S	probably damaging	Het
Iqcn	T	C	8: 71,169,921 (GRCm39)	I1337T	probably benign	Het
Kcnb1	T	C	2: 167,030,204 (GRCm39)	S114G	probably damaging	Het
Lce1c	A	T	3: 92,587,623 (GRCm39)	T17S	unknown	Het
Lhfpl4	C	A	6: 113,153,627 (GRCm39)	L141F	possibly damaging	Het
Ms4a14	T	C	19: 11,279,594 (GRCm39)	E988G	possibly damaging	Het
Naip5	G	T	13: 100,356,205 (GRCm39)	Q1137K	not run	Het
Naip5	T	C	13: 100,356,204 (GRCm39)	Q1137R	probably benign	Het
Neurod1	T	A	2: 79,285,290 (GRCm39)	D31V	probably benign	Het
Neurod4	A	G	10: 130,106,927 (GRCm39)	C116R	probably damaging	Het
Nisch	A	G	14: 30,928,537 (GRCm39)	V28A	probably benign	Het
Odad1	A	C	7: 45,592,189 (GRCm39)	Q323P	probably damaging	Het
Or4a72	A	G	2: 89,405,449 (GRCm39)	V207A	probably benign	Het
Or5d44	T	G	2: 88,141,772 (GRCm39)	M123L	probably benign	Het
Pabpc4l	T	A	3: 46,401,024 (GRCm39)	R207W	probably damaging	Het
Pabpc4l	A	T	3: 46,400,687 (GRCm39)	I319N	probably damaging	Het
Pcm1	G	A	8: 41,762,568 (GRCm39)	D1371N	probably damaging	Het
Peg10	G	GGTC	6: 4,756,452 (GRCm39)		probably benign	Het
Plxnc1	C	T	10: 94,706,867 (GRCm39)	A557T	probably benign	Het
Prkdc	T	A	16: 15,466,602 (GRCm39)	V58D	probably damaging	Het
Prpf40a	A	G	2: 53,046,959 (GRCm39)	V259A	probably benign	Het
Psmd3	A	T	11: 98,576,466 (GRCm39)	T123S	probably benign	Het
Ptgr2	G	T	12: 84,339,103 (GRCm39)		probably benign	Het
Ptprr	A	G	10: 115,884,141 (GRCm39)	H66R	probably benign	Het
Rftn2	A	G	1: 55,233,401 (GRCm39)		probably null	Het
Rsph14	T	A	10: 74,865,628 (GRCm39)	E70V	possibly damaging	Het
Sorbs1	G	C	19: 40,365,244 (GRCm39)	R180G	probably benign	Het
Spag9	A	T	11: 93,988,515 (GRCm39)	T862S	probably benign	Het
Ssbp2	T	A	13: 91,839,002 (GRCm39)	D291E	probably benign	Het
Supt5	T	C	7: 28,023,197 (GRCm39)	K329E	probably damaging	Het
Syne2	G	T	12: 76,014,155 (GRCm39)	K3115N	probably damaging	Het
Tars1	A	T	15: 11,392,095 (GRCm39)	L239*	probably null	Het
Tbxa2r	T	C	10: 81,168,625 (GRCm39)	Y105H	probably benign	Het
Tesk1	T	A	4: 43,445,743 (GRCm39)	D265E	probably damaging	Het
Tril	T	C	6: 53,795,266 (GRCm39)	D652G	possibly damaging	Het
Tsga10	T	C	1: 37,873,268 (GRCm39)	R204G	probably null	Het
Twnk	A	G	19: 45,000,219 (GRCm39)	D645G	probably benign	Het
Umodl1	A	T	17: 31,217,122 (GRCm39)	D1118V	probably damaging	Het
Unc119	T	C	11: 78,238,071 (GRCm39)	I83T	probably benign	Het
Unc80	T	C	1: 66,685,574 (GRCm39)	W2233R	possibly damaging	Het
Vmn1r45	T	A	6: 89,910,416 (GRCm39)	T185S	possibly damaging	Het
Vmn2r111	G	T	17: 22,790,067 (GRCm39)	T313K	possibly damaging	Het
Wdr4	A	G	17: 31,728,806 (GRCm39)	L123S	probably damaging	Het
Zfpm2	A	G	15: 40,966,386 (GRCm39)	E957G	possibly damaging	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
R0344:Slc24a5	UTSW	2	124,927,621 (GRCm39)	missense	probably benign	0.03
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
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'- TATGCCTAGGTCTTCCCTGG -3'
(R):5'- CGACCTTGGTGTAAGCTCAC -3'

Sequencing Primer
(F):5'- AGGTCTTCCCTGGTTTATTAAGAC -3'
(R):5'- GACCTTGGTGTAAGCTCACAGATAC -3'

Posted On

2019-09-13