Incidental Mutation 'IGL03202:Mtfmt'
| ID |
413010 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mtfmt
|
| Ensembl Gene |
ENSMUSG00000059183 |
| Gene Name |
mitochondrial methionyl-tRNA formyltransferase |
| Synonyms |
2310020P08Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL03202
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
65343064-65360336 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 65356008 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Glutamine
at position 303
(P303Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000074347
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074792]
|
| AlphaFold |
Q9D799 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000074792
AA Change: P303Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000074347
Gene: ENSMUSG00000059183
AA Change: P303Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
68 |
77 |
N/A |
INTRINSIC |
|
Pfam:Formyl_trans_N
|
105 |
215 |
1.5e-27 |
PFAM |
|
Pfam:Formyl_trans_C
|
238 |
345 |
1.6e-12 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130057
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132966
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140244
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214308
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this nuclear gene localizes to the mitochondrion, where it catalyzes the formylation of methionyl-tRNA. [provided by RefSeq, Jun 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700113H08Rik |
T |
C |
10: 86,909,911 (GRCm39) |
M1T |
probably null |
Het |
| Ace |
T |
A |
11: 105,867,788 (GRCm39) |
I168N |
probably damaging |
Het |
| Actr10 |
T |
G |
12: 70,987,605 (GRCm39) |
C37W |
probably damaging |
Het |
| Atp10b |
T |
C |
11: 43,125,268 (GRCm39) |
|
probably null |
Het |
| Bend5 |
A |
G |
4: 111,290,441 (GRCm39) |
N146D |
possibly damaging |
Het |
| Cacna1b |
A |
G |
2: 24,541,124 (GRCm39) |
F1347L |
probably damaging |
Het |
| Crybg3 |
T |
A |
16: 59,315,072 (GRCm39) |
I2910F |
probably damaging |
Het |
| Cspg4 |
T |
C |
9: 56,805,023 (GRCm39) |
S1945P |
possibly damaging |
Het |
| Cxcr4 |
T |
G |
1: 128,516,641 (GRCm39) |
K340T |
probably damaging |
Het |
| Dnah6 |
T |
A |
6: 73,121,683 (GRCm39) |
Y1433F |
probably damaging |
Het |
| Eif2ak4 |
T |
C |
2: 118,231,101 (GRCm39) |
V77A |
probably damaging |
Het |
| Fscn3 |
A |
T |
6: 28,434,451 (GRCm39) |
H342L |
probably benign |
Het |
| Gm9843 |
T |
C |
16: 76,200,234 (GRCm39) |
|
noncoding transcript |
Het |
| Hdac9 |
T |
C |
12: 34,423,950 (GRCm39) |
E520G |
probably damaging |
Het |
| Itm2b |
G |
A |
14: 73,603,229 (GRCm39) |
P120L |
probably damaging |
Het |
| Itpa |
T |
A |
2: 130,509,859 (GRCm39) |
|
probably benign |
Het |
| Lce1l |
A |
T |
3: 92,757,631 (GRCm39) |
C76S |
unknown |
Het |
| Lin54 |
A |
G |
5: 100,623,673 (GRCm39) |
S55P |
possibly damaging |
Het |
| Lrrc37 |
T |
A |
11: 103,506,199 (GRCm39) |
E1923V |
probably benign |
Het |
| Nae1 |
A |
T |
8: 105,244,811 (GRCm39) |
|
probably benign |
Het |
| Ncapd3 |
T |
A |
9: 26,983,011 (GRCm39) |
|
probably benign |
Het |
| Or13a19 |
A |
G |
7: 139,903,019 (GRCm39) |
M136V |
possibly damaging |
Het |
| Or1e22 |
G |
A |
11: 73,377,351 (GRCm39) |
Q100* |
probably null |
Het |
| Pcnx2 |
A |
C |
8: 126,498,783 (GRCm39) |
I1572S |
probably damaging |
Het |
| Piezo2 |
A |
T |
18: 63,144,669 (GRCm39) |
Y2809N |
probably damaging |
Het |
| Pygl |
G |
T |
12: 70,246,420 (GRCm39) |
Q376K |
probably benign |
Het |
| Resf1 |
G |
A |
6: 149,227,937 (GRCm39) |
V328I |
probably benign |
Het |
| Rrp12 |
T |
C |
19: 41,857,205 (GRCm39) |
|
probably null |
Het |
| Sephs1 |
A |
T |
2: 4,894,074 (GRCm39) |
I92F |
possibly damaging |
Het |
| Taar4 |
T |
C |
10: 23,836,692 (GRCm39) |
F101L |
probably damaging |
Het |
| Tenm2 |
A |
G |
11: 35,915,375 (GRCm39) |
I2053T |
probably damaging |
Het |
| Tgfbr3 |
T |
G |
5: 107,257,630 (GRCm39) |
|
probably benign |
Het |
| Vmn2r108 |
A |
T |
17: 20,691,319 (GRCm39) |
Y401* |
probably null |
Het |
| Vmn2r87 |
A |
G |
10: 130,333,091 (GRCm39) |
M53T |
probably benign |
Het |
| Zfp941 |
A |
G |
7: 140,392,966 (GRCm39) |
V131A |
probably benign |
Het |
|
| Other mutations in Mtfmt |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01728:Mtfmt
|
APN |
9 |
65,343,100 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01980:Mtfmt
|
APN |
9 |
65,344,356 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02200:Mtfmt
|
APN |
9 |
65,356,063 (GRCm39) |
splice site |
probably benign |
|
|
IGL02375:Mtfmt
|
APN |
9 |
65,346,849 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2697:Mtfmt
|
UTSW |
9 |
65,359,303 (GRCm39) |
missense |
probably benign |
0.15 |
|
R4898:Mtfmt
|
UTSW |
9 |
65,359,386 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4994:Mtfmt
|
UTSW |
9 |
65,351,133 (GRCm39) |
intron |
probably benign |
|
|
R5046:Mtfmt
|
UTSW |
9 |
65,346,897 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6110:Mtfmt
|
UTSW |
9 |
65,354,586 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6243:Mtfmt
|
UTSW |
9 |
65,351,182 (GRCm39) |
missense |
probably benign |
0.30 |
|
R8475:Mtfmt
|
UTSW |
9 |
65,359,469 (GRCm39) |
missense |
probably benign |
0.32 |
|
R8926:Mtfmt
|
UTSW |
9 |
65,344,414 (GRCm39) |
nonsense |
probably null |
|
|
R9480:Mtfmt
|
UTSW |
9 |
65,351,181 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R9506:Mtfmt
|
UTSW |
9 |
65,343,147 (GRCm39) |
missense |
probably benign |
|
|
R9509:Mtfmt
|
UTSW |
9 |
65,343,147 (GRCm39) |
missense |
probably benign |
|
|
R9510:Mtfmt
|
UTSW |
9 |
65,343,147 (GRCm39) |
missense |
probably benign |
|
|
R9511:Mtfmt
|
UTSW |
9 |
65,343,147 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation