Incidental Mutation 'IGL00913:Slc25a38'
| ID |
28142 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Slc25a38
|
| Ensembl Gene |
ENSMUSG00000032519 |
| Gene Name |
solute carrier family 25, member 38 |
| Synonyms |
appoptosin |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.505)
|
| Stock # |
IGL00913
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
119939440-119953570 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 119949373 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 108
(Y108*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121747
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035106]
[ENSMUST00000135514]
[ENSMUST00000144768]
[ENSMUST00000150093]
|
| AlphaFold |
Q91XD8 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000035106
AA Change: Y129*
|
| SMART Domains |
Protein: ENSMUSP00000035106
Gene: ENSMUSG00000032519
AA Change: Y129*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mito_carr
|
44 |
139 |
4.1e-23 |
PFAM |
|
Pfam:Mito_carr
|
139 |
229 |
2.5e-19 |
PFAM |
|
Pfam:Mito_carr
|
237 |
326 |
4.8e-18 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000135514
AA Change: Y108*
|
| SMART Domains |
Protein: ENSMUSP00000121747
Gene: ENSMUSG00000032519
AA Change: Y108*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mito_carr
|
22 |
118 |
2.8e-23 |
PFAM |
|
Pfam:Mito_carr
|
118 |
208 |
1e-21 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137522
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000144768
AA Change: F154I
|
| SMART Domains |
Protein: ENSMUSP00000121454
Gene: ENSMUSG00000032519
AA Change: F154I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mito_carr
|
44 |
114 |
1.2e-16 |
PFAM |
|
low complexity region
|
163 |
182 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150093
|
| SMART Domains |
Protein: ENSMUSP00000123357
Gene: ENSMUSG00000032519
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mito_carr
|
44 |
114 |
5.5e-17 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154969
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the mitochondrial carrier family. The encoded protein is required during erythropoiesis and is important for the biosynthesis of heme. Mutations in this gene are the cause of autosomal congenital sideroblastic anemia.[provided by RefSeq, Mar 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrf4 |
A |
G |
17: 42,977,793 (GRCm39) |
S517P |
possibly damaging |
Het |
| Arl4c |
T |
C |
1: 88,629,106 (GRCm39) |
D94G |
probably damaging |
Het |
| Bag5 |
T |
C |
12: 111,677,766 (GRCm39) |
E19G |
probably damaging |
Het |
| Carf |
T |
A |
1: 60,187,114 (GRCm39) |
D537E |
probably benign |
Het |
| Cd177 |
C |
A |
7: 24,455,620 (GRCm39) |
D301Y |
probably damaging |
Het |
| Csmd1 |
C |
T |
8: 16,121,301 (GRCm39) |
V1799I |
probably benign |
Het |
| Cyp4x1 |
T |
A |
4: 114,970,060 (GRCm39) |
I356F |
probably benign |
Het |
| F5 |
A |
T |
1: 164,032,465 (GRCm39) |
H1804L |
probably damaging |
Het |
| Fras1 |
G |
T |
5: 96,842,935 (GRCm39) |
G1718C |
probably damaging |
Het |
| Ganc |
T |
C |
2: 120,269,933 (GRCm39) |
|
probably benign |
Het |
| Hs3st5 |
A |
G |
10: 36,708,846 (GRCm39) |
D127G |
probably damaging |
Het |
| Inpp5a |
A |
G |
7: 139,096,637 (GRCm39) |
D154G |
probably benign |
Het |
| Kif16b |
T |
A |
2: 142,545,927 (GRCm39) |
R1134* |
probably null |
Het |
| Lrrc66 |
C |
T |
5: 73,765,499 (GRCm39) |
A515T |
possibly damaging |
Het |
| Map3k10 |
C |
T |
7: 27,362,640 (GRCm39) |
|
probably benign |
Het |
| Mideas |
T |
A |
12: 84,219,632 (GRCm39) |
I441L |
probably benign |
Het |
| Mrpl12 |
G |
A |
11: 120,376,202 (GRCm39) |
D71N |
possibly damaging |
Het |
| Nfix |
A |
T |
8: 85,453,106 (GRCm39) |
V316E |
probably damaging |
Het |
| Nop2 |
A |
G |
6: 125,116,784 (GRCm39) |
Y346C |
probably damaging |
Het |
| Nrbp1 |
A |
G |
5: 31,408,403 (GRCm39) |
E513G |
possibly damaging |
Het |
| Ogfrl1 |
T |
C |
1: 23,409,171 (GRCm39) |
I352V |
probably benign |
Het |
| Or7a35 |
A |
G |
10: 78,854,085 (GRCm39) |
T310A |
probably benign |
Het |
| Or8b48 |
T |
A |
9: 38,492,672 (GRCm39) |
V33E |
probably damaging |
Het |
| Oxr1 |
G |
A |
15: 41,683,539 (GRCm39) |
V15I |
possibly damaging |
Het |
| Pik3r6 |
T |
G |
11: 68,442,147 (GRCm39) |
F697C |
probably damaging |
Het |
| Ptk2 |
A |
G |
15: 73,167,238 (GRCm39) |
|
probably benign |
Het |
| Rnft2 |
G |
A |
5: 118,339,280 (GRCm39) |
T380M |
probably damaging |
Het |
| Scel |
A |
G |
14: 103,819,245 (GRCm39) |
N346S |
probably benign |
Het |
| Sema4a |
T |
A |
3: 88,357,117 (GRCm39) |
T153S |
probably damaging |
Het |
| Serinc2 |
A |
T |
4: 130,158,201 (GRCm39) |
L82Q |
possibly damaging |
Het |
| Sin3a |
A |
G |
9: 57,005,402 (GRCm39) |
T392A |
probably benign |
Het |
| Tmc8 |
G |
A |
11: 117,677,330 (GRCm39) |
G317R |
probably damaging |
Het |
| Trpc3 |
A |
G |
3: 36,694,788 (GRCm39) |
V722A |
possibly damaging |
Het |
| Unc93a2 |
A |
T |
17: 7,637,138 (GRCm39) |
V130D |
probably damaging |
Het |
|
| Other mutations in Slc25a38 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01012:Slc25a38
|
APN |
9 |
119,945,560 (GRCm39) |
splice site |
probably benign |
|
|
IGL02084:Slc25a38
|
APN |
9 |
119,949,512 (GRCm39) |
splice site |
probably benign |
|
|
IGL02203:Slc25a38
|
APN |
9 |
119,949,878 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02281:Slc25a38
|
APN |
9 |
119,946,598 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0482:Slc25a38
|
UTSW |
9 |
119,949,899 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0532:Slc25a38
|
UTSW |
9 |
119,949,772 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0550:Slc25a38
|
UTSW |
9 |
119,952,709 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1523:Slc25a38
|
UTSW |
9 |
119,952,769 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4908:Slc25a38
|
UTSW |
9 |
119,949,354 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5171:Slc25a38
|
UTSW |
9 |
119,951,181 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5976:Slc25a38
|
UTSW |
9 |
119,945,613 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6092:Slc25a38
|
UTSW |
9 |
119,945,658 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7379:Slc25a38
|
UTSW |
9 |
119,949,902 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8007:Slc25a38
|
UTSW |
9 |
119,951,208 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8841:Slc25a38
|
UTSW |
9 |
119,949,845 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-04-17 |
Incidental Mutation