Incidental Mutation 'IGL01125:Slc49a3'
ID |
51156 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Slc49a3
|
Ensembl Gene |
ENSMUSG00000029490 |
Gene Name |
solute carrier family 49 member 3 |
Synonyms |
Mfsd7, 4732482E20Rik, Mfsd7a |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.075)
|
Stock # |
IGL01125
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
108588920-108596966 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to G
at 108592458 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031455
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031455]
|
AlphaFold |
Q8CE47 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000031455
|
SMART Domains |
Protein: ENSMUSP00000031455 Gene: ENSMUSG00000029490
Domain | Start | End | E-Value | Type |
Pfam:MFS_1
|
36 |
396 |
8.9e-23 |
PFAM |
transmembrane domain
|
423 |
445 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrg2 |
C |
T |
X: 159,275,704 (GRCm39) |
T931I |
probably damaging |
Het |
Atp5mc3 |
A |
G |
2: 73,741,293 (GRCm39) |
|
probably benign |
Het |
Btd |
T |
A |
14: 31,389,733 (GRCm39) |
F485I |
probably benign |
Het |
Camk2d |
A |
G |
3: 126,591,934 (GRCm39) |
|
probably benign |
Het |
Cd300lg |
A |
T |
11: 101,945,047 (GRCm39) |
|
probably benign |
Het |
Col9a1 |
A |
G |
1: 24,263,726 (GRCm39) |
|
probably null |
Het |
Cybb |
T |
A |
X: 9,312,983 (GRCm39) |
N367I |
possibly damaging |
Het |
Dcaf17 |
T |
C |
2: 70,920,149 (GRCm39) |
V479A |
probably benign |
Het |
Dscaml1 |
G |
T |
9: 45,660,930 (GRCm39) |
|
probably null |
Het |
Espl1 |
T |
C |
15: 102,231,373 (GRCm39) |
F51S |
probably damaging |
Het |
Gsdmc3 |
T |
A |
15: 63,733,306 (GRCm39) |
D258V |
probably benign |
Het |
Gvin-ps3 |
A |
T |
7: 105,682,021 (GRCm39) |
N411K |
unknown |
Het |
Ifngr1 |
C |
T |
10: 19,473,161 (GRCm39) |
|
probably benign |
Het |
Kcnip1 |
A |
T |
11: 33,583,202 (GRCm39) |
D194E |
probably damaging |
Het |
Lrrtm1 |
C |
T |
6: 77,221,436 (GRCm39) |
R298C |
probably damaging |
Het |
Map3k4 |
G |
A |
17: 12,490,849 (GRCm39) |
S194L |
probably damaging |
Het |
Mmp16 |
A |
G |
4: 18,112,066 (GRCm39) |
K481E |
possibly damaging |
Het |
Myh1 |
A |
T |
11: 67,111,486 (GRCm39) |
M1642L |
probably benign |
Het |
Nol9 |
G |
T |
4: 152,131,066 (GRCm39) |
C363F |
probably damaging |
Het |
Nsd1 |
T |
C |
13: 55,393,430 (GRCm39) |
S344P |
probably damaging |
Het |
Or52e5 |
A |
T |
7: 104,718,808 (GRCm39) |
I45F |
probably benign |
Het |
Phf20 |
G |
A |
2: 156,145,104 (GRCm39) |
|
probably null |
Het |
Ppp3cc |
G |
T |
14: 70,455,701 (GRCm39) |
H467Q |
probably damaging |
Het |
Rab28 |
A |
G |
5: 41,793,237 (GRCm39) |
M136T |
probably benign |
Het |
Rag1 |
A |
G |
2: 101,472,346 (GRCm39) |
I932T |
probably damaging |
Het |
Sez6 |
T |
C |
11: 77,868,115 (GRCm39) |
|
probably benign |
Het |
Sorcs1 |
T |
C |
19: 50,216,639 (GRCm39) |
T647A |
probably damaging |
Het |
Sspo |
T |
A |
6: 48,469,822 (GRCm39) |
C4507S |
probably damaging |
Het |
Traf3ip3 |
T |
C |
1: 192,866,772 (GRCm39) |
|
probably null |
Het |
Vmn2r121 |
T |
A |
X: 123,042,504 (GRCm39) |
I218F |
probably damaging |
Het |
Vmn2r61 |
A |
G |
7: 41,909,550 (GRCm39) |
Y25C |
probably damaging |
Het |
|
Other mutations in Slc49a3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
R0239:Slc49a3
|
UTSW |
5 |
108,591,882 (GRCm39) |
splice site |
probably benign |
|
R0551:Slc49a3
|
UTSW |
5 |
108,592,331 (GRCm39) |
splice site |
probably benign |
|
R2086:Slc49a3
|
UTSW |
5 |
108,593,487 (GRCm39) |
missense |
probably damaging |
1.00 |
R2240:Slc49a3
|
UTSW |
5 |
108,592,573 (GRCm39) |
missense |
probably benign |
0.04 |
R4663:Slc49a3
|
UTSW |
5 |
108,590,011 (GRCm39) |
missense |
probably benign |
0.01 |
R4713:Slc49a3
|
UTSW |
5 |
108,589,945 (GRCm39) |
missense |
probably damaging |
0.97 |
R5560:Slc49a3
|
UTSW |
5 |
108,596,729 (GRCm39) |
start codon destroyed |
probably null |
0.01 |
R5950:Slc49a3
|
UTSW |
5 |
108,593,351 (GRCm39) |
missense |
probably damaging |
0.98 |
R6618:Slc49a3
|
UTSW |
5 |
108,590,964 (GRCm39) |
missense |
probably benign |
0.16 |
R7107:Slc49a3
|
UTSW |
5 |
108,596,581 (GRCm39) |
splice site |
probably null |
|
R7273:Slc49a3
|
UTSW |
5 |
108,589,857 (GRCm39) |
missense |
probably benign |
|
R7369:Slc49a3
|
UTSW |
5 |
108,593,394 (GRCm39) |
missense |
probably benign |
0.09 |
R7384:Slc49a3
|
UTSW |
5 |
108,593,926 (GRCm39) |
missense |
probably damaging |
0.96 |
R7502:Slc49a3
|
UTSW |
5 |
108,591,646 (GRCm39) |
splice site |
probably null |
|
R7585:Slc49a3
|
UTSW |
5 |
108,596,685 (GRCm39) |
missense |
probably benign |
|
R7863:Slc49a3
|
UTSW |
5 |
108,593,400 (GRCm39) |
missense |
probably damaging |
1.00 |
R7908:Slc49a3
|
UTSW |
5 |
108,592,363 (GRCm39) |
missense |
probably benign |
0.09 |
R8909:Slc49a3
|
UTSW |
5 |
108,592,432 (GRCm39) |
missense |
probably benign |
0.00 |
R8976:Slc49a3
|
UTSW |
5 |
108,589,897 (GRCm39) |
missense |
probably benign |
0.01 |
R9063:Slc49a3
|
UTSW |
5 |
108,590,103 (GRCm39) |
missense |
probably damaging |
1.00 |
R9277:Slc49a3
|
UTSW |
5 |
108,589,864 (GRCm39) |
missense |
probably benign |
|
R9797:Slc49a3
|
UTSW |
5 |
108,593,403 (GRCm39) |
missense |
probably benign |
0.01 |
|
Posted On |
2013-06-21 |