Incidental Mutation 'IGL02263:Slc41a2'
| ID |
286814 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Slc41a2
|
| Ensembl Gene |
ENSMUSG00000034591 |
| Gene Name |
solute carrier family 41, member 2 |
| Synonyms |
A230035L05Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.143)
|
| Stock # |
IGL02263
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
83066712-83173746 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 83149364 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 193
(V193A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036690
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039956]
[ENSMUST00000126617]
[ENSMUST00000154730]
[ENSMUST00000154926]
|
| AlphaFold |
Q8BYR8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000039956
AA Change: V193A
PolyPhen 2
Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000036690
Gene: ENSMUSG00000034591
AA Change: V193A
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
159 |
181 |
N/A |
INTRINSIC |
|
Pfam:MgtE
|
200 |
334 |
8.7e-24 |
PFAM |
|
transmembrane domain
|
346 |
368 |
N/A |
INTRINSIC |
|
transmembrane domain
|
375 |
397 |
N/A |
INTRINSIC |
|
Pfam:MgtE
|
414 |
557 |
2.9e-32 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126617
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154730
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154926
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aff3 |
A |
G |
1: 38,574,680 (GRCm39) |
V100A |
probably damaging |
Het |
| Agmo |
T |
A |
12: 37,407,696 (GRCm39) |
N193K |
probably damaging |
Het |
| Dnah8 |
A |
G |
17: 30,948,139 (GRCm39) |
I1910V |
probably benign |
Het |
| Dsg2 |
T |
A |
18: 20,723,077 (GRCm39) |
S368T |
possibly damaging |
Het |
| Eif2ak4 |
A |
G |
2: 118,292,259 (GRCm39) |
T1270A |
probably benign |
Het |
| Ina |
T |
C |
19: 47,003,926 (GRCm39) |
S245P |
probably damaging |
Het |
| Katnb1 |
A |
G |
8: 95,816,703 (GRCm39) |
K96R |
probably damaging |
Het |
| Kcnj4 |
A |
G |
15: 79,369,988 (GRCm39) |
|
probably benign |
Het |
| Kcnn3 |
A |
G |
3: 89,568,525 (GRCm39) |
H601R |
possibly damaging |
Het |
| Lrrc25 |
C |
A |
8: 71,070,472 (GRCm39) |
F84L |
probably benign |
Het |
| Ltb |
A |
G |
17: 35,414,977 (GRCm39) |
Y259C |
probably damaging |
Het |
| Macc1 |
T |
G |
12: 119,409,752 (GRCm39) |
N173K |
possibly damaging |
Het |
| Med17 |
A |
T |
9: 15,178,772 (GRCm39) |
N466K |
probably damaging |
Het |
| Ncoa2 |
A |
T |
1: 13,244,987 (GRCm39) |
N570K |
probably damaging |
Het |
| Or52ae9 |
A |
T |
7: 103,390,262 (GRCm39) |
F62I |
probably damaging |
Het |
| Or5w1 |
A |
T |
2: 87,486,543 (GRCm39) |
C241S |
probably damaging |
Het |
| Or8k20 |
T |
A |
2: 86,106,546 (GRCm39) |
Y95F |
probably benign |
Het |
| Plb1 |
T |
C |
5: 32,478,692 (GRCm39) |
|
probably benign |
Het |
| Ptprk |
G |
A |
10: 27,951,110 (GRCm39) |
V12I |
unknown |
Het |
| Rabggta |
G |
A |
14: 55,956,418 (GRCm39) |
|
probably benign |
Het |
| Thbs1 |
A |
G |
2: 117,950,361 (GRCm39) |
N665D |
probably benign |
Het |
| Tm9sf1 |
T |
C |
14: 55,880,392 (GRCm39) |
T2A |
possibly damaging |
Het |
| Traf7 |
C |
A |
17: 24,732,020 (GRCm39) |
C193F |
possibly damaging |
Het |
| Vmn1r91 |
A |
G |
7: 19,835,768 (GRCm39) |
D229G |
probably benign |
Het |
| Vmn2r7 |
A |
C |
3: 64,598,868 (GRCm39) |
V654G |
probably damaging |
Het |
|
| Other mutations in Slc41a2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00821:Slc41a2
|
APN |
10 |
83,149,394 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02338:Slc41a2
|
APN |
10 |
83,152,455 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
IGL02680:Slc41a2
|
APN |
10 |
83,119,728 (GRCm39) |
missense |
probably benign |
0.20 |
|
IGL02703:Slc41a2
|
APN |
10 |
83,090,711 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03039:Slc41a2
|
APN |
10 |
83,119,722 (GRCm39) |
missense |
probably benign |
0.37 |
|
PIT4508001:Slc41a2
|
UTSW |
10 |
83,090,744 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0326:Slc41a2
|
UTSW |
10 |
83,119,610 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0470:Slc41a2
|
UTSW |
10 |
83,152,086 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0610:Slc41a2
|
UTSW |
10 |
83,119,592 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R1708:Slc41a2
|
UTSW |
10 |
83,069,596 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1765:Slc41a2
|
UTSW |
10 |
83,137,130 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1870:Slc41a2
|
UTSW |
10 |
83,137,029 (GRCm39) |
nonsense |
probably null |
|
|
R1875:Slc41a2
|
UTSW |
10 |
83,091,949 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2008:Slc41a2
|
UTSW |
10 |
83,140,167 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2172:Slc41a2
|
UTSW |
10 |
83,119,638 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4193:Slc41a2
|
UTSW |
10 |
83,137,085 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4789:Slc41a2
|
UTSW |
10 |
83,152,320 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4861:Slc41a2
|
UTSW |
10 |
83,152,322 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4861:Slc41a2
|
UTSW |
10 |
83,152,322 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4913:Slc41a2
|
UTSW |
10 |
83,149,284 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5012:Slc41a2
|
UTSW |
10 |
83,137,127 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5140:Slc41a2
|
UTSW |
10 |
83,133,155 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5189:Slc41a2
|
UTSW |
10 |
83,149,275 (GRCm39) |
splice site |
probably null |
|
|
R5410:Slc41a2
|
UTSW |
10 |
83,117,232 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5748:Slc41a2
|
UTSW |
10 |
83,133,023 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5808:Slc41a2
|
UTSW |
10 |
83,149,362 (GRCm39) |
missense |
probably benign |
0.29 |
|
R6124:Slc41a2
|
UTSW |
10 |
83,133,116 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6292:Slc41a2
|
UTSW |
10 |
83,090,790 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6511:Slc41a2
|
UTSW |
10 |
83,119,652 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6793:Slc41a2
|
UTSW |
10 |
83,137,022 (GRCm39) |
splice site |
probably null |
|
|
R6970:Slc41a2
|
UTSW |
10 |
83,151,960 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R7584:Slc41a2
|
UTSW |
10 |
83,152,653 (GRCm39) |
splice site |
probably benign |
|
|
R7752:Slc41a2
|
UTSW |
10 |
83,091,905 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R8289:Slc41a2
|
UTSW |
10 |
83,137,044 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8700:Slc41a2
|
UTSW |
10 |
83,152,097 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9607:Slc41a2
|
UTSW |
10 |
83,119,631 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation