Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03039:Slc45a2'

408821

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: 0.094) question?

Stock #

IGL03039

Quality Score

Status

Chromosome

Chromosomal Location

11000807-11029319 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 11012773 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 259 (S259P)

Ref Sequence

ENSEMBL: ENSMUSP00000112408 (fasta)

Gene Model

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

AlphaFold

P58355

Predicted Effect

probably benign
Transcript: ENSMUST00000117100
AA Change: S259P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000112408
Gene: ENSMUSG00000022243
AA Change: S259P

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam6b	T	C	12: 113,454,502 (GRCm39)	C440R	probably damaging	Het
Agbl2	A	G	2: 90,631,566 (GRCm39)	D308G	possibly damaging	Het
Cfh	G	T	1: 140,063,999 (GRCm39)	Q408K	possibly damaging	Het
Chrna7	A	G	7: 62,798,340 (GRCm39)	L114P	probably damaging	Het
Defa35	G	A	8: 21,555,839 (GRCm39)	C66Y	probably damaging	Het
Dnah12	C	A	14: 26,445,667 (GRCm39)	Q743K	probably benign	Het
Elapor2	A	G	5: 9,468,055 (GRCm39)	E241G	probably benign	Het
Esco2	T	C	14: 66,068,867 (GRCm39)	K148E	probably damaging	Het
Gm17079	T	A	14: 51,930,518 (GRCm39)	E109V	probably damaging	Het
Herc2	T	A	7: 55,818,769 (GRCm39)		probably benign	Het
Igkv1-88	T	C	6: 68,839,276 (GRCm39)	Y112C	possibly damaging	Het
Igkv4-50	T	C	6: 69,678,042 (GRCm39)	R21G	probably benign	Het
Kbtbd11	A	G	8: 15,077,467 (GRCm39)	D22G	probably benign	Het
Kcnb2	A	G	1: 15,781,435 (GRCm39)	D769G	probably benign	Het
Kdm2b	C	A	5: 123,019,734 (GRCm39)	W817L	probably benign	Het
Myo18b	A	G	5: 112,988,637 (GRCm39)	V983A	probably damaging	Het
Nr1d2	A	T	14: 18,215,184 (GRCm38)	M276K	probably benign	Het
Or10ag59	T	A	2: 87,405,536 (GRCm39)	M36K	probably benign	Het
Or2ak7	T	A	11: 58,574,837 (GRCm39)	V46D	probably damaging	Het
Phf20	T	C	2: 156,140,461 (GRCm39)	Y712H	probably damaging	Het
Phkg2	T	A	7: 127,178,866 (GRCm39)	Y27*	probably null	Het
Pomt2	C	A	12: 87,157,140 (GRCm39)	L726F	probably benign	Het
Setd3	T	C	12: 108,129,229 (GRCm39)		probably null	Het
Skint4	T	C	4: 111,981,847 (GRCm39)	V272A	probably benign	Het
Slc41a2	A	G	10: 83,119,722 (GRCm39)	Y347H	probably benign	Het
Tgfbr3	A	C	5: 107,325,665 (GRCm39)		probably benign	Het
Tgfbrap1	A	T	1: 43,115,088 (GRCm39)	I4N	possibly damaging	Het
Trh	C	A	6: 92,220,709 (GRCm39)	R51L	probably damaging	Het
Vars2	A	T	17: 35,975,013 (GRCm39)	V312E	probably damaging	Het
Wdfy2	T	C	14: 63,186,169 (GRCm39)	V268A	probably benign	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
IGL02283:Slc45a2	APN	15	11,001,268 (GRCm39)	missense	probably damaging	1.00
IGL02634:Slc45a2	APN	15	11,023,440 (GRCm39)	missense	probably benign	0.21
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

2016-08-02