Incidental Mutation 'IGL00927:Slc41a1'
ID |
26647 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Slc41a1
|
Ensembl Gene |
ENSMUSG00000013275 |
Gene Name |
solute carrier family 41, member 1 |
Synonyms |
B230315F01Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL00927
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
131755236-131776601 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 131766914 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Histidine
at position 144
(L144H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000083747
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086559]
|
AlphaFold |
Q8BJA2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000086559
AA Change: L144H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000083747 Gene: ENSMUSG00000013275 AA Change: L144H
Domain | Start | End | E-Value | Type |
transmembrane domain
|
97 |
119 |
N/A |
INTRINSIC |
Pfam:MgtE
|
138 |
272 |
1.9e-25 |
PFAM |
transmembrane domain
|
283 |
305 |
N/A |
INTRINSIC |
transmembrane domain
|
314 |
336 |
N/A |
INTRINSIC |
Pfam:MgtE
|
352 |
496 |
1.3e-32 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146360
|
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 |
2310033P09Rik |
A |
G |
11: 59,099,674 (GRCm39) |
T92A |
probably damaging |
Het |
Ankhd1 |
A |
G |
18: 36,765,125 (GRCm39) |
S1007G |
probably benign |
Het |
Cabp4 |
A |
T |
19: 4,189,406 (GRCm39) |
S50R |
possibly damaging |
Het |
Camp |
A |
T |
9: 109,678,336 (GRCm39) |
L56Q |
probably damaging |
Het |
Cblb |
A |
G |
16: 51,986,461 (GRCm39) |
N568S |
probably benign |
Het |
Ccr6 |
C |
A |
17: 8,474,825 (GRCm39) |
T10K |
probably benign |
Het |
Chit1 |
T |
C |
1: 134,072,992 (GRCm39) |
F106S |
probably damaging |
Het |
Cyb561d1 |
A |
G |
3: 108,106,943 (GRCm39) |
L34P |
probably damaging |
Het |
Dcun1d1 |
A |
T |
3: 35,975,114 (GRCm39) |
|
probably benign |
Het |
Deup1 |
A |
G |
9: 15,521,967 (GRCm39) |
|
probably benign |
Het |
Erich1 |
A |
G |
8: 14,083,518 (GRCm39) |
F184S |
probably damaging |
Het |
Fmnl3 |
A |
G |
15: 99,235,509 (GRCm39) |
|
probably null |
Het |
Grk2 |
T |
C |
19: 4,337,982 (GRCm39) |
N508S |
probably benign |
Het |
Herc4 |
A |
G |
10: 63,109,316 (GRCm39) |
I184V |
probably benign |
Het |
Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
Ift56 |
T |
C |
6: 38,359,155 (GRCm39) |
|
probably benign |
Het |
Kif3b |
G |
A |
2: 153,158,381 (GRCm39) |
A61T |
possibly damaging |
Het |
Kmt2d |
G |
A |
15: 98,742,890 (GRCm39) |
|
probably benign |
Het |
Lrrc7 |
C |
A |
3: 157,866,727 (GRCm39) |
V1005L |
possibly damaging |
Het |
Lrrtm1 |
A |
T |
6: 77,221,046 (GRCm39) |
M168L |
probably benign |
Het |
Ndc1 |
C |
T |
4: 107,241,977 (GRCm39) |
|
probably benign |
Het |
Nphs1 |
A |
G |
7: 30,160,164 (GRCm39) |
|
probably benign |
Het |
Or52w1 |
A |
T |
7: 105,018,454 (GRCm39) |
Y298F |
probably damaging |
Het |
Pbld2 |
T |
C |
10: 62,907,734 (GRCm39) |
V200A |
probably benign |
Het |
Pcdhb21 |
A |
G |
18: 37,647,606 (GRCm39) |
Y245C |
probably damaging |
Het |
Pcm1 |
A |
G |
8: 41,740,918 (GRCm39) |
T1055A |
probably damaging |
Het |
Plcl2 |
C |
T |
17: 50,913,948 (GRCm39) |
S319L |
probably benign |
Het |
Plekha8 |
C |
A |
6: 54,606,822 (GRCm39) |
Y372* |
probably null |
Het |
Ralb |
T |
A |
1: 119,399,506 (GRCm39) |
N184I |
probably benign |
Het |
Robo3 |
C |
T |
9: 37,339,050 (GRCm39) |
|
probably null |
Het |
Smg1 |
C |
T |
7: 117,739,855 (GRCm39) |
G3364D |
probably damaging |
Het |
Spmap2 |
A |
G |
10: 79,412,433 (GRCm39) |
S329P |
probably damaging |
Het |
Vmn1r123 |
T |
A |
7: 20,896,216 (GRCm39) |
V36D |
possibly damaging |
Het |
Zbtb7c |
T |
C |
18: 76,278,921 (GRCm39) |
S460P |
possibly damaging |
Het |
Zscan30 |
T |
C |
18: 24,104,834 (GRCm39) |
|
noncoding transcript |
Het |
|
Other mutations in Slc41a1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01368:Slc41a1
|
APN |
1 |
131,766,862 (GRCm39) |
missense |
probably damaging |
0.99 |
R0255:Slc41a1
|
UTSW |
1 |
131,771,650 (GRCm39) |
splice site |
probably benign |
|
R0737:Slc41a1
|
UTSW |
1 |
131,768,690 (GRCm39) |
missense |
probably damaging |
1.00 |
R1367:Slc41a1
|
UTSW |
1 |
131,771,746 (GRCm39) |
missense |
probably benign |
|
R1474:Slc41a1
|
UTSW |
1 |
131,774,319 (GRCm39) |
missense |
probably damaging |
0.98 |
R1927:Slc41a1
|
UTSW |
1 |
131,768,938 (GRCm39) |
missense |
probably damaging |
0.99 |
R4518:Slc41a1
|
UTSW |
1 |
131,766,863 (GRCm39) |
missense |
probably damaging |
0.99 |
R4790:Slc41a1
|
UTSW |
1 |
131,758,690 (GRCm39) |
missense |
probably damaging |
1.00 |
R4851:Slc41a1
|
UTSW |
1 |
131,758,508 (GRCm39) |
missense |
probably benign |
0.02 |
R5180:Slc41a1
|
UTSW |
1 |
131,772,115 (GRCm39) |
missense |
probably damaging |
0.99 |
R5633:Slc41a1
|
UTSW |
1 |
131,774,325 (GRCm39) |
missense |
possibly damaging |
0.68 |
R6060:Slc41a1
|
UTSW |
1 |
131,767,972 (GRCm39) |
missense |
probably benign |
0.04 |
R6526:Slc41a1
|
UTSW |
1 |
131,768,887 (GRCm39) |
missense |
probably damaging |
1.00 |
R6787:Slc41a1
|
UTSW |
1 |
131,770,487 (GRCm39) |
splice site |
probably null |
|
R7038:Slc41a1
|
UTSW |
1 |
131,769,795 (GRCm39) |
missense |
possibly damaging |
0.60 |
R7258:Slc41a1
|
UTSW |
1 |
131,769,780 (GRCm39) |
missense |
probably benign |
0.27 |
R7382:Slc41a1
|
UTSW |
1 |
131,774,370 (GRCm39) |
missense |
probably damaging |
1.00 |
R7405:Slc41a1
|
UTSW |
1 |
131,766,884 (GRCm39) |
missense |
probably damaging |
1.00 |
R7432:Slc41a1
|
UTSW |
1 |
131,758,694 (GRCm39) |
missense |
probably damaging |
1.00 |
R7574:Slc41a1
|
UTSW |
1 |
131,766,889 (GRCm39) |
missense |
probably damaging |
1.00 |
R7873:Slc41a1
|
UTSW |
1 |
131,758,561 (GRCm39) |
missense |
possibly damaging |
0.62 |
R7942:Slc41a1
|
UTSW |
1 |
131,768,635 (GRCm39) |
missense |
probably damaging |
0.99 |
R7956:Slc41a1
|
UTSW |
1 |
131,771,766 (GRCm39) |
missense |
possibly damaging |
0.53 |
R9040:Slc41a1
|
UTSW |
1 |
131,768,623 (GRCm39) |
missense |
probably damaging |
0.98 |
R9435:Slc41a1
|
UTSW |
1 |
131,766,896 (GRCm39) |
missense |
probably damaging |
1.00 |
R9723:Slc41a1
|
UTSW |
1 |
131,772,103 (GRCm39) |
missense |
possibly damaging |
0.94 |
Z1177:Slc41a1
|
UTSW |
1 |
131,771,724 (GRCm39) |
missense |
probably benign |
|
Z1189:Slc41a1
|
UTSW |
1 |
131,767,972 (GRCm39) |
missense |
probably benign |
0.04 |
Z1192:Slc41a1
|
UTSW |
1 |
131,767,972 (GRCm39) |
missense |
probably benign |
0.04 |
|
Posted On |
2013-04-17 |