Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02283:Slc45a2'

289919

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc45a2

Ensembl Gene

ENSMUSG00000022243

Gene Name

solute carrier family 45, member 2

Synonyms

Aim1, Dbr, blanc-sale, dominant brown, Aim-1, Matp, bls, Oca4

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

IGL02283

Quality Score

Status

Chromosome

Chromosomal Location

11000807-11029319 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 11001268 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 122 (N122K)

Ref Sequence

ENSEMBL: ENSMUSP00000112408 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070877] [ENSMUST00000117100]

AlphaFold

P58355

Predicted Effect

probably benign
Transcript: ENSMUST00000070877

SMART Domains

Protein: ENSMUSP00000066915
Gene: ENSMUSG00000022244

Domain	Start	End	E-Value	Type
Pfam:CoA_transf_3	3	349	1.6e-82	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000117100
AA Change: N122K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000112408
Gene: ENSMUSG00000022243
AA Change: N122K

Domain	Start	End	E-Value	Type
Pfam:MFS_2	1	457	2e-22	PFAM
Pfam:MFS_1	2	292	2.6e-12	PFAM

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 encodes a transporter protein that mediates melanin synthesis. The protein is expressed in a high percentage of melanoma cell lines. Mutations in this gene are a cause of oculocutaneous albinism type 4, and polymorphisms in this gene are associated with variations in skin and hair color. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
PHENOTYPE: Homozygotes for spontaneous mutations exhibit varied degrees of hypopigmentation of the eyes, skin, and hair, especially the underfur. Eyes are very light at birth but darken with age. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh1l2	T	C	10: 83,331,759 (GRCm39)	Y682C	probably benign	Het
Ank1	G	A	8: 23,609,450 (GRCm39)		probably null	Het
Arhgap1	A	G	2: 91,501,121 (GRCm39)	N399S	probably damaging	Het
Atp8a2	A	T	14: 60,254,248 (GRCm39)	I511N	possibly damaging	Het
Birc6	T	A	17: 74,906,935 (GRCm39)	C1428S	probably benign	Het
Col18a1	T	C	10: 76,948,943 (GRCm39)	T190A	possibly damaging	Het
Cpd	A	T	11: 76,731,251 (GRCm39)	D318E	probably benign	Het
Dync2h1	A	T	9: 7,125,912 (GRCm39)	V1898E	probably damaging	Het
Gon4l	T	C	3: 88,802,671 (GRCm39)	M1095T	probably damaging	Het
Gypa	G	A	8: 81,220,721 (GRCm39)		probably benign	Het
Irf9	G	A	14: 55,845,196 (GRCm39)	R352H	probably damaging	Het
Macf1	T	C	4: 123,365,168 (GRCm39)	T1633A	probably benign	Het
Mars2	T	C	1: 55,277,933 (GRCm39)	V512A	probably damaging	Het
Myo9a	A	G	9: 59,778,956 (GRCm39)	N1571D	probably benign	Het
Myrfl	T	C	10: 116,613,265 (GRCm39)	D846G	probably benign	Het
Or2ak6	A	T	11: 58,593,102 (GRCm39)	T192S	probably damaging	Het
Or2y1b	A	G	11: 49,209,162 (GRCm39)	D263G	probably benign	Het
Or4d11	A	G	19: 12,013,219 (GRCm39)	S296P	possibly damaging	Het
Or7a41	T	C	10: 78,871,379 (GRCm39)	S250P	probably damaging	Het
Rprd2	A	T	3: 95,672,815 (GRCm39)	S863T	probably damaging	Het
Sdf4	T	A	4: 156,093,293 (GRCm39)	N208K	probably benign	Het
Sftpd	A	T	14: 40,894,423 (GRCm39)	V332D	probably benign	Het
Sh2b3	T	C	5: 121,956,718 (GRCm39)	D321G	probably benign	Het
Slk	T	A	19: 47,630,432 (GRCm39)	F1170Y	probably damaging	Het
Spata7	A	C	12: 98,624,517 (GRCm39)	T140P	probably damaging	Het
Vmn2r117	A	G	17: 23,694,356 (GRCm39)	L497S	probably damaging	Het

Other mutations in Slc45a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02074:Slc45a2	APN	15	11,000,903 (GRCm39)	start codon destroyed	probably null	0.80
IGL02634:Slc45a2	APN	15	11,023,440 (GRCm39)	missense	probably benign	0.21
IGL03039:Slc45a2	APN	15	11,012,773 (GRCm39)	missense	probably benign
IGL03123:Slc45a2	APN	15	11,012,741 (GRCm39)	missense	probably benign	0.01
IGL03226:Slc45a2	APN	15	11,022,278 (GRCm39)	missense	probably damaging	1.00
cardigan	UTSW	15	11,022,257 (GRCm39)	synonymous	probably benign
cheng	UTSW	15	11,025,954 (GRCm39)	missense	probably damaging	0.99
Draco2	UTSW	15	11,000,903 (GRCm39)	start codon destroyed	probably benign	0.05
galak	UTSW	15	11,012,752 (GRCm39)	missense	probably benign
goku	UTSW	15	11,000,941 (GRCm39)	nonsense	probably null
grey_goose	UTSW	15	11,003,067 (GRCm39)	missense	probably damaging	1.00
june_gloom	UTSW	15	11,023,529 (GRCm39)	missense	possibly damaging	0.94
nilla	UTSW	15	0 ()	splice donor site
Olaf	UTSW	15	0 ()	unclassified
sweater	UTSW	15	11,012,696 (GRCm39)	missense	probably damaging	1.00
voldemort	UTSW	15	0 ()	unclassified
yuki	UTSW	15	11,001,178 (GRCm39)	missense	probably damaging	1.00
zuckerkuss	UTSW	15	11,026,020 (GRCm39)	critical splice donor site	probably benign
R0148:Slc45a2	UTSW	15	11,025,954 (GRCm39)	missense	probably damaging	0.99
R0433:Slc45a2	UTSW	15	11,025,831 (GRCm39)	missense	probably benign	0.17
R0440:Slc45a2	UTSW	15	11,000,903 (GRCm39)	start codon destroyed	probably benign	0.05
R0675:Slc45a2	UTSW	15	11,025,864 (GRCm39)	missense	probably damaging	1.00
R1384:Slc45a2	UTSW	15	11,025,832 (GRCm39)	missense	probably benign	0.04
R1616:Slc45a2	UTSW	15	11,022,214 (GRCm39)	missense	probably null	0.01
R1824:Slc45a2	UTSW	15	11,022,172 (GRCm39)	missense	probably damaging	0.99
R2244:Slc45a2	UTSW	15	11,003,087 (GRCm39)	missense	probably benign	0.21
R3761:Slc45a2	UTSW	15	11,012,800 (GRCm39)	missense	probably benign	0.07
R4631:Slc45a2	UTSW	15	11,012,662 (GRCm39)	missense	probably benign	0.13
R4756:Slc45a2	UTSW	15	11,028,016 (GRCm39)	nonsense	probably null
R4990:Slc45a2	UTSW	15	11,001,236 (GRCm39)	missense	probably benign	0.00
R5066:Slc45a2	UTSW	15	11,012,693 (GRCm39)	missense	probably benign	0.31
R5209:Slc45a2	UTSW	15	11,027,871 (GRCm39)	missense	probably damaging	0.98
R5210:Slc45a2	UTSW	15	11,027,871 (GRCm39)	missense	probably damaging	0.98
R5211:Slc45a2	UTSW	15	11,027,871 (GRCm39)	missense	probably damaging	0.98
R5212:Slc45a2	UTSW	15	11,027,871 (GRCm39)	missense	probably damaging	0.98
R5213:Slc45a2	UTSW	15	11,027,871 (GRCm39)	missense	probably damaging	0.98
R5259:Slc45a2	UTSW	15	11,027,871 (GRCm39)	missense	probably damaging	0.98
R5261:Slc45a2	UTSW	15	11,027,871 (GRCm39)	missense	probably damaging	0.98
R5390:Slc45a2	UTSW	15	11,027,871 (GRCm39)	missense	probably damaging	0.98
R5394:Slc45a2	UTSW	15	11,027,871 (GRCm39)	missense	probably damaging	0.98
R5395:Slc45a2	UTSW	15	11,027,871 (GRCm39)	missense	probably damaging	0.98
R5422:Slc45a2	UTSW	15	11,027,871 (GRCm39)	missense	probably damaging	0.98
R5496:Slc45a2	UTSW	15	11,027,871 (GRCm39)	missense	probably damaging	0.98
R5498:Slc45a2	UTSW	15	11,027,871 (GRCm39)	missense	probably damaging	0.98
R5499:Slc45a2	UTSW	15	11,027,871 (GRCm39)	missense	probably damaging	0.98
R5500:Slc45a2	UTSW	15	11,027,871 (GRCm39)	missense	probably damaging	0.98
R5501:Slc45a2	UTSW	15	11,027,871 (GRCm39)	missense	probably damaging	0.98
R5649:Slc45a2	UTSW	15	11,012,693 (GRCm39)	missense	probably benign	0.00
R5662:Slc45a2	UTSW	15	11,022,169 (GRCm39)	missense	probably benign	0.31
R5696:Slc45a2	UTSW	15	11,001,219 (GRCm39)	missense	probably damaging	1.00
R5896:Slc45a2	UTSW	15	11,000,941 (GRCm39)	nonsense	probably null
R6236:Slc45a2	UTSW	15	11,022,158 (GRCm39)	missense	probably benign	0.00
R6709:Slc45a2	UTSW	15	11,001,216 (GRCm39)	missense	possibly damaging	0.46
R7243:Slc45a2	UTSW	15	11,023,436 (GRCm39)	missense	possibly damaging	0.94
R7839:Slc45a2	UTSW	15	11,027,835 (GRCm39)	missense	probably benign
R8221:Slc45a2	UTSW	15	11,001,233 (GRCm39)	missense	probably benign	0.02
R8404:Slc45a2	UTSW	15	11,027,958 (GRCm39)	missense	possibly damaging	0.62
R8502:Slc45a2	UTSW	15	11,027,958 (GRCm39)	missense	possibly damaging	0.62
R8680:Slc45a2	UTSW	15	11,000,972 (GRCm39)	missense	probably benign	0.00
R8724:Slc45a2	UTSW	15	11,012,610 (GRCm39)	missense	probably benign	0.00
R8966:Slc45a2	UTSW	15	11,001,122 (GRCm39)	missense	probably damaging	1.00
R9431:Slc45a2	UTSW	15	11,026,005 (GRCm39)	missense	possibly damaging	0.94

Posted On

2015-04-16