Incidental Mutation 'R5498:Slc45a2'
| ID |
432490 |
| Institutional Source |
Beutler Lab
|
| 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 |
| MMRRC Submission |
043059-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.094)
|
| Stock # |
R5498 (G1)
|
| Quality Score |
180 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
11000807-11029319 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 11027871 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 480
(T480I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112408
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000117100]
|
| AlphaFold |
P58355 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022851
AA Change: T480I
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000022851
Gene: ENSMUSG00000022243
AA Change: T480I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_2
|
34 |
262 |
2.4e-17 |
PFAM |
|
Pfam:MFS_1
|
36 |
363 |
3e-13 |
PFAM |
|
transmembrane domain
|
365 |
387 |
N/A |
INTRINSIC |
|
transmembrane domain
|
394 |
416 |
N/A |
INTRINSIC |
|
transmembrane domain
|
421 |
443 |
N/A |
INTRINSIC |
|
transmembrane domain
|
477 |
499 |
N/A |
INTRINSIC |
|
transmembrane domain
|
504 |
526 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000117100
AA Change: T480I
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000112408
Gene: ENSMUSG00000022243
AA Change: T480I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_2
|
1 |
457 |
2e-22 |
PFAM |
|
Pfam:MFS_1
|
2 |
292 |
2.6e-12 |
PFAM |
|
| Meta Mutation Damage Score |
0.1786 |
| Coding Region Coverage |
- 1x: 98.2%
- 3x: 97.2%
- 10x: 94.8%
- 20x: 89.2%
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930522L14Rik |
T |
A |
5: 109,885,413 (GRCm39) |
K148N |
probably benign |
Het |
| Abca6 |
T |
A |
11: 110,099,670 (GRCm39) |
D959V |
possibly damaging |
Het |
| Acot12 |
T |
C |
13: 91,929,352 (GRCm39) |
V393A |
probably damaging |
Het |
| Ano3 |
C |
A |
2: 110,527,448 (GRCm39) |
V587F |
possibly damaging |
Het |
| Bub1 |
T |
C |
2: 127,656,629 (GRCm39) |
D471G |
possibly damaging |
Het |
| Cdh15 |
G |
T |
8: 123,591,917 (GRCm39) |
V601F |
possibly damaging |
Het |
| Cdt1 |
C |
T |
8: 123,297,239 (GRCm39) |
R311W |
probably damaging |
Het |
| Cnot1 |
A |
T |
8: 96,483,983 (GRCm39) |
I706N |
possibly damaging |
Het |
| Fbn1 |
A |
G |
2: 125,202,096 (GRCm39) |
I1259T |
probably damaging |
Het |
| Furin |
A |
T |
7: 80,041,542 (GRCm39) |
W539R |
probably damaging |
Het |
| Hivep1 |
A |
T |
13: 42,276,634 (GRCm39) |
|
probably null |
Het |
| Igkv3-9 |
A |
G |
6: 70,565,727 (GRCm39) |
M109V |
probably benign |
Het |
| Klf10 |
G |
A |
15: 38,296,283 (GRCm39) |
R421W |
probably damaging |
Het |
| Mtor |
A |
T |
4: 148,624,821 (GRCm39) |
Y2144F |
possibly damaging |
Het |
| Mybpc2 |
T |
C |
7: 44,165,689 (GRCm39) |
Y297C |
probably damaging |
Het |
| Myom2 |
G |
A |
8: 15,179,142 (GRCm39) |
E1325K |
probably benign |
Het |
| Nsd1 |
A |
T |
13: 55,361,115 (GRCm39) |
K28* |
probably null |
Het |
| Or2r11 |
C |
T |
6: 42,437,228 (GRCm39) |
A242T |
probably benign |
Het |
| Or51b4 |
T |
G |
7: 103,530,839 (GRCm39) |
T204P |
probably damaging |
Het |
| Phc2 |
C |
A |
4: 128,602,787 (GRCm39) |
N120K |
probably benign |
Het |
| Pias3 |
A |
G |
3: 96,609,504 (GRCm39) |
T274A |
possibly damaging |
Het |
| Plcb4 |
T |
A |
2: 135,818,092 (GRCm39) |
I786N |
probably damaging |
Het |
| Plec |
G |
A |
15: 76,061,654 (GRCm39) |
S2626L |
probably damaging |
Het |
| Polg |
A |
G |
7: 79,104,418 (GRCm39) |
L819P |
probably damaging |
Het |
| Ppp2r3d |
T |
C |
9: 124,439,123 (GRCm38) |
|
probably benign |
Het |
| Resf1 |
A |
G |
6: 149,229,738 (GRCm39) |
D928G |
probably damaging |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Rnpc3 |
A |
G |
3: 113,404,856 (GRCm39) |
|
probably null |
Het |
| Sarnp |
T |
A |
10: 128,689,063 (GRCm39) |
D65E |
probably benign |
Het |
| Sh3bp5 |
C |
A |
14: 31,099,452 (GRCm39) |
R265L |
probably benign |
Het |
| Slc16a10 |
C |
T |
10: 39,913,323 (GRCm39) |
V462M |
probably damaging |
Het |
| Slfn5 |
A |
T |
11: 82,847,973 (GRCm39) |
H286L |
possibly damaging |
Het |
| Spag17 |
G |
A |
3: 100,010,661 (GRCm39) |
A2052T |
possibly damaging |
Het |
| Sptbn5 |
A |
T |
2: 119,907,119 (GRCm39) |
|
probably benign |
Het |
| Tlr3 |
C |
T |
8: 45,851,851 (GRCm39) |
D349N |
possibly damaging |
Het |
| Trim45 |
T |
C |
3: 100,832,457 (GRCm39) |
V230A |
possibly damaging |
Het |
| Ube3b |
T |
C |
5: 114,556,635 (GRCm39) |
F989L |
probably damaging |
Het |
| Vps51 |
T |
G |
19: 6,121,063 (GRCm39) |
E283D |
probably benign |
Het |
| Wdr24 |
A |
G |
17: 26,043,535 (GRCm39) |
H119R |
probably damaging |
Het |
| Yars2 |
T |
A |
16: 16,124,387 (GRCm39) |
H331Q |
possibly damaging |
Het |
| Zscan21 |
T |
C |
5: 138,131,522 (GRCm39) |
S349P |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGATCCTACGAAGCCCAGAG -3'
(R):5'- TGAGGCATACAGTCCCCAAC -3'
Sequencing Primer
(F):5'- CTACGAAGCCCAGAGGTAGTTAC -3'
(R):5'- AAAAGAGCGGTTTCTTGCCATG -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation