Incidental Mutation 'IGL01829:Sfxn4'
| ID |
154735 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Sfxn4
|
| Ensembl Gene |
ENSMUSG00000063698 |
| Gene Name |
sideroflexin 4 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01829
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
60825715-60849917 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 60847172 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Isoleucine
at position 37
(S37I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118708
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080806]
[ENSMUST00000124921]
[ENSMUST00000135808]
|
| AlphaFold |
Q925N1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000080806
AA Change: S37I
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000124921
AA Change: S37I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000135808
AA Change: S37I
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000118743
Gene: ENSMUSG00000063698
AA Change: S37I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mtc
|
11 |
313 |
2.1e-67 |
PFAM |
|
| 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 encodes a member of the sideroflexin family. The encoded protein is a transmembrane protein of the inner mitochondrial membrane, and is required for mitochondrial respiratory homeostasis and erythropoiesis. Mutations in this gene are associated with mitochondriopathy and macrocytic anemia. Alternatively spliced transcript variants have been found in this gene. [provided by RefSeq, Jan 2014]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bod1l |
A |
G |
5: 41,977,811 (GRCm39) |
S1168P |
probably benign |
Het |
| Csn1s2a |
A |
T |
5: 87,934,569 (GRCm39) |
T173S |
unknown |
Het |
| Dchs1 |
T |
A |
7: 105,404,604 (GRCm39) |
D2646V |
probably damaging |
Het |
| Dennd4a |
C |
T |
9: 64,749,843 (GRCm39) |
R145* |
probably null |
Het |
| Dnah7a |
G |
T |
1: 53,657,227 (GRCm39) |
R850S |
possibly damaging |
Het |
| Dock2 |
T |
C |
11: 34,596,668 (GRCm39) |
D396G |
probably damaging |
Het |
| E2f7 |
A |
G |
10: 110,614,955 (GRCm39) |
Y553C |
probably benign |
Het |
| Elf2 |
A |
G |
3: 51,215,521 (GRCm39) |
M63T |
probably damaging |
Het |
| Hydin |
A |
C |
8: 111,316,154 (GRCm39) |
T4349P |
possibly damaging |
Het |
| Kcnk13 |
T |
A |
12: 100,027,257 (GRCm39) |
|
probably benign |
Het |
| Nr1h5 |
T |
A |
3: 102,856,395 (GRCm39) |
I295L |
probably benign |
Het |
| Or9s23 |
A |
T |
1: 92,501,051 (GRCm39) |
I53F |
probably benign |
Het |
| Ptprk |
A |
G |
10: 28,449,383 (GRCm39) |
H986R |
probably damaging |
Het |
| Rufy1 |
T |
A |
11: 50,307,071 (GRCm39) |
R300* |
probably null |
Het |
| Slc12a9 |
A |
T |
5: 137,325,627 (GRCm39) |
|
probably benign |
Het |
| Slc37a1 |
T |
C |
17: 31,541,180 (GRCm39) |
I224T |
possibly damaging |
Het |
| Slc6a6 |
T |
C |
6: 91,712,170 (GRCm39) |
F233S |
probably damaging |
Het |
| Stard9 |
A |
G |
2: 120,536,927 (GRCm39) |
K4233E |
possibly damaging |
Het |
| Trp53bp1 |
A |
T |
2: 121,046,377 (GRCm39) |
M1141K |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,612,011 (GRCm39) |
D17297G |
probably damaging |
Het |
| Vmn1r12 |
T |
C |
6: 57,136,649 (GRCm39) |
Y205H |
probably damaging |
Het |
| Vmn1r77 |
A |
G |
7: 11,775,358 (GRCm39) |
K45E |
probably damaging |
Het |
| Vmn2r129 |
T |
C |
4: 156,685,614 (GRCm39) |
|
noncoding transcript |
Het |
| Vps13a |
T |
C |
19: 16,596,807 (GRCm39) |
T3104A |
probably benign |
Het |
|
| Other mutations in Sfxn4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01141:Sfxn4
|
APN |
19 |
60,839,452 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL01567:Sfxn4
|
APN |
19 |
60,842,336 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01903:Sfxn4
|
APN |
19 |
60,847,118 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01965:Sfxn4
|
APN |
19 |
60,847,182 (GRCm39) |
splice site |
probably benign |
|
|
IGL03290:Sfxn4
|
APN |
19 |
60,848,508 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0346:Sfxn4
|
UTSW |
19 |
60,847,111 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0550:Sfxn4
|
UTSW |
19 |
60,839,383 (GRCm39) |
splice site |
probably benign |
|
|
R2228:Sfxn4
|
UTSW |
19 |
60,839,458 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2229:Sfxn4
|
UTSW |
19 |
60,839,458 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3949:Sfxn4
|
UTSW |
19 |
60,840,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5074:Sfxn4
|
UTSW |
19 |
60,839,450 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6534:Sfxn4
|
UTSW |
19 |
60,827,461 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7120:Sfxn4
|
UTSW |
19 |
60,840,477 (GRCm39) |
nonsense |
probably null |
|
|
R7375:Sfxn4
|
UTSW |
19 |
60,847,112 (GRCm39) |
missense |
probably benign |
0.38 |
|
R7438:Sfxn4
|
UTSW |
19 |
60,845,799 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7440:Sfxn4
|
UTSW |
19 |
60,830,642 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7479:Sfxn4
|
UTSW |
19 |
60,847,112 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R7577:Sfxn4
|
UTSW |
19 |
60,842,324 (GRCm39) |
missense |
probably benign |
0.21 |
|
R7883:Sfxn4
|
UTSW |
19 |
60,847,187 (GRCm39) |
splice site |
probably null |
|
|
R8058:Sfxn4
|
UTSW |
19 |
60,832,690 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9335:Sfxn4
|
UTSW |
19 |
60,839,494 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9523:Sfxn4
|
UTSW |
19 |
60,845,807 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Posted On |
2014-02-04 |
Incidental Mutation