Incidental Mutation 'IGL03039:Slc41a2'
| ID |
408826 |
| 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: 0.136)
|
| Stock # |
IGL03039
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
83066712-83173746 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 83119722 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 347
(Y347H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036690
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039956]
|
| AlphaFold |
Q8BYR8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039956
AA Change: Y347H
PolyPhen 2
Score 0.370 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000036690
Gene: ENSMUSG00000034591
AA Change: Y347H
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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 |
| Slc45a2 |
T |
C |
15: 11,012,773 (GRCm39) |
S259P |
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 Slc41a2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00821:Slc41a2
|
APN |
10 |
83,149,394 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02263:Slc41a2
|
APN |
10 |
83,149,364 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation