Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00776:Slc24a5'

14064

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc24a5

Ensembl Gene

ENSMUSG00000035183

Gene Name

solute carrier family 24, member 5

Synonyms

Oca6, F630045L20Rik, NCX5, NCKX5

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00776

Quality Score

Status

Chromosome

Chromosomal Location

124910076-124930316 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 124922809 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 161 (S161P)

Ref Sequence

ENSEMBL: ENSMUSP00000063887 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070353]

AlphaFold

Q8C261

Predicted Effect

probably damaging
Transcript: ENSMUST00000070353
AA Change: S161P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000063887
Gene: ENSMUSG00000035183
AA Change: S161P

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

noncoding transcript
Transcript: ENSMUST00000129945

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139615

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149963

Coding Region Coverage

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: 15 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921504E06Rik	A	T	2: 19,545,182 (GRCm39)	D90E	probably benign	Het
Abcb5	T	C	12: 118,883,589 (GRCm39)	S560G	probably damaging	Het
Ankrd24	A	C	10: 81,478,979 (GRCm39)		probably benign	Het
Atp8a1	A	T	5: 67,906,486 (GRCm39)	I461N	probably benign	Het
Eif4a1	G	A	11: 69,559,922 (GRCm39)	L166F	probably damaging	Het
Herc1	T	A	9: 66,328,320 (GRCm39)	H1542Q	probably benign	Het
Itih4	G	A	14: 30,611,561 (GRCm39)	V95I	probably benign	Het
Kcnh7	A	G	2: 62,680,720 (GRCm39)	I289T	probably benign	Het
Krt86	C	T	15: 101,371,741 (GRCm39)	H104Y	probably benign	Het
Mterf1a	A	C	5: 3,941,809 (GRCm39)	W20G	possibly damaging	Het
Slc25a21	G	A	12: 56,816,990 (GRCm39)	T99I	probably benign	Het
Smurf1	A	G	5: 144,818,584 (GRCm39)	S619P	probably benign	Het
Sorbs1	C	T	19: 40,332,795 (GRCm39)		probably null	Het
Strn4	C	T	7: 16,564,377 (GRCm39)	R185C	probably damaging	Het
Tctn3	A	G	19: 40,585,865 (GRCm39)	F560S	probably damaging	Het

Other mutations in Slc24a5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2012-12-06