Incidental Mutation 'IGL02680:Slc41a2'
| ID |
303338 |
| 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 # |
IGL02680
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
83066712-83173746 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 83119728 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 345
(Y345H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036690
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039956]
|
| AlphaFold |
Q8BYR8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039956
AA Change: Y345H
PolyPhen 2
Score 0.196 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000036690
Gene: ENSMUSG00000034591
AA Change: Y345H
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921524L21Rik |
T |
A |
18: 6,635,949 (GRCm39) |
|
probably benign |
Het |
| Aldh1a3 |
C |
A |
7: 66,055,895 (GRCm39) |
V299F |
probably damaging |
Het |
| Ankar |
A |
G |
1: 72,709,275 (GRCm39) |
Y747H |
probably damaging |
Het |
| Armc9 |
T |
C |
1: 86,180,000 (GRCm39) |
I107T |
probably damaging |
Het |
| Atmin |
A |
T |
8: 117,684,236 (GRCm39) |
D632V |
probably damaging |
Het |
| Atp5pd |
C |
A |
11: 115,306,840 (GRCm39) |
|
probably null |
Het |
| Cadps2 |
T |
C |
6: 23,838,895 (GRCm39) |
E81G |
probably damaging |
Het |
| Cep162 |
A |
G |
9: 87,128,797 (GRCm39) |
V67A |
possibly damaging |
Het |
| Cfap100 |
C |
T |
6: 90,389,217 (GRCm39) |
V335I |
probably benign |
Het |
| Dmtf1 |
A |
T |
5: 9,180,381 (GRCm39) |
D181E |
probably benign |
Het |
| Efcab14 |
T |
A |
4: 115,597,615 (GRCm39) |
I70N |
probably damaging |
Het |
| Frzb |
T |
C |
2: 80,254,970 (GRCm39) |
T189A |
possibly damaging |
Het |
| Fstl3 |
G |
A |
10: 79,614,506 (GRCm39) |
W69* |
probably null |
Het |
| Gjb3 |
C |
T |
4: 127,219,815 (GRCm39) |
C239Y |
probably damaging |
Het |
| Ifna1 |
A |
G |
4: 88,768,523 (GRCm39) |
D67G |
probably benign |
Het |
| Inpp5d |
A |
G |
1: 87,629,205 (GRCm39) |
T397A |
possibly damaging |
Het |
| Myh11 |
G |
T |
16: 14,027,384 (GRCm39) |
H1283Q |
probably benign |
Het |
| Naip6 |
A |
G |
13: 100,420,256 (GRCm39) |
V1338A |
probably benign |
Het |
| Obscn |
A |
G |
11: 58,890,846 (GRCm39) |
S7229P |
unknown |
Het |
| Or1l4b |
A |
T |
2: 37,036,427 (GRCm39) |
I68F |
probably damaging |
Het |
| Pfkp |
G |
A |
13: 6,650,708 (GRCm39) |
|
probably benign |
Het |
| Pop1 |
T |
A |
15: 34,502,619 (GRCm39) |
I102K |
probably damaging |
Het |
| Ppp1r21 |
A |
G |
17: 88,891,290 (GRCm39) |
M732V |
probably benign |
Het |
| Rsc1a1 |
A |
G |
4: 141,412,408 (GRCm39) |
V168A |
probably benign |
Het |
| Scd2 |
G |
A |
19: 44,289,685 (GRCm39) |
V227I |
probably benign |
Het |
| Scn10a |
T |
A |
9: 119,495,125 (GRCm39) |
Y372F |
probably damaging |
Het |
| Slc35c2 |
G |
T |
2: 165,124,055 (GRCm39) |
T94K |
probably damaging |
Het |
| Slc5a11 |
T |
C |
7: 122,864,854 (GRCm39) |
S387P |
probably damaging |
Het |
| Smg7 |
T |
A |
1: 152,721,145 (GRCm39) |
N727I |
probably benign |
Het |
| Steap2 |
A |
T |
5: 5,723,474 (GRCm39) |
F469I |
probably benign |
Het |
| Tex2 |
T |
A |
11: 106,459,058 (GRCm39) |
|
probably benign |
Het |
| Tmem79 |
A |
G |
3: 88,240,270 (GRCm39) |
L226P |
probably damaging |
Het |
| Tnfrsf14 |
G |
T |
4: 155,008,927 (GRCm39) |
C165* |
probably null |
Het |
| Trim21 |
A |
G |
7: 102,208,870 (GRCm39) |
V283A |
probably benign |
Het |
| Vmn2r16 |
A |
T |
5: 109,487,948 (GRCm39) |
M274L |
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 |
|
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