Incidental Mutation 'R4389:Mtfr1l'
| ID |
326330 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mtfr1l
|
| Ensembl Gene |
ENSMUSG00000046671 |
| Gene Name |
mitochondrial fission regulator 1-like |
| Synonyms |
2410166I05Rik, Fam54b |
| MMRRC Submission |
041126-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.146)
|
| Stock # |
R4389 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
134252866-134262698 bp(-) (GRCm39) |
| Type of Mutation |
utr 5 prime |
| DNA Base Change (assembly) |
T to C
at 134259953 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117943
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102550]
[ENSMUST00000116279]
[ENSMUST00000131613]
[ENSMUST00000146808]
[ENSMUST00000154769]
|
| AlphaFold |
Q9CWE0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102550
|
| SMART Domains |
Protein: ENSMUSP00000099609
Gene: ENSMUSG00000046671
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mito_fiss_reg
|
7 |
251 |
4.9e-71 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000116279
|
| SMART Domains |
Protein: ENSMUSP00000111983
Gene: ENSMUSG00000046671
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mito_fiss_reg
|
7 |
251 |
4.9e-71 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129836
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130187
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131613
|
| SMART Domains |
Protein: ENSMUSP00000123326
Gene: ENSMUSG00000046671
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mito_fiss_reg
|
5 |
201 |
2.3e-69 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146808
|
| SMART Domains |
Protein: ENSMUSP00000120200
Gene: ENSMUSG00000046671
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mito_fiss_reg
|
5 |
225 |
1.5e-82 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154769
|
| SMART Domains |
Protein: ENSMUSP00000117943
Gene: ENSMUSG00000046671
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mito_fiss_reg
|
5 |
237 |
1.5e-84 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.7%
- 10x: 96.6%
- 20x: 92.6%
|
| Validation Efficiency |
87% (26/30) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
C |
11: 9,247,878 (GRCm39) |
T2542P |
probably damaging |
Het |
| Adprm |
C |
T |
11: 66,929,019 (GRCm39) |
R324K |
probably benign |
Het |
| Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,619,782 (GRCm39) |
|
probably benign |
Het |
| Cd209b |
A |
G |
8: 3,975,960 (GRCm39) |
L67P |
probably damaging |
Het |
| Cfap54 |
T |
A |
10: 92,803,362 (GRCm39) |
K1560M |
probably benign |
Het |
| Ctps1 |
T |
C |
4: 120,415,987 (GRCm39) |
D212G |
probably damaging |
Het |
| Ercc6 |
T |
A |
14: 32,296,865 (GRCm39) |
L1285* |
probably null |
Het |
| Gzma |
G |
T |
13: 113,234,922 (GRCm39) |
|
probably null |
Het |
| Kng2 |
T |
C |
16: 22,843,618 (GRCm39) |
I120M |
possibly damaging |
Het |
| Lhx3 |
C |
T |
2: 26,091,102 (GRCm39) |
|
probably benign |
Het |
| Ndufb4 |
T |
C |
16: 37,468,032 (GRCm39) |
N126S |
probably benign |
Het |
| Nlrp4e |
A |
G |
7: 23,020,652 (GRCm39) |
I380V |
probably benign |
Het |
| Nptn |
A |
G |
9: 58,551,055 (GRCm39) |
K361E |
probably damaging |
Het |
| Or5an1c |
A |
G |
19: 12,218,503 (GRCm39) |
V174A |
probably damaging |
Het |
| Orc2 |
T |
C |
1: 58,514,020 (GRCm39) |
D332G |
probably benign |
Het |
| Pcdha4 |
T |
C |
18: 37,087,842 (GRCm39) |
V675A |
probably benign |
Het |
| Rpl7a-ps3 |
G |
A |
15: 36,308,429 (GRCm39) |
|
noncoding transcript |
Het |
| Slc13a1 |
A |
T |
6: 24,092,397 (GRCm39) |
|
probably null |
Het |
| Tec |
A |
G |
5: 72,939,350 (GRCm39) |
Y222H |
probably benign |
Het |
| Ttll2 |
T |
A |
17: 7,618,599 (GRCm39) |
R443* |
probably null |
Het |
| Vmn1r66 |
A |
T |
7: 10,008,715 (GRCm39) |
L106* |
probably null |
Het |
| Zfp189 |
A |
G |
4: 49,529,934 (GRCm39) |
R346G |
probably damaging |
Het |
|
| Other mutations in Mtfr1l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01011:Mtfr1l
|
APN |
4 |
134,256,511 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01868:Mtfr1l
|
APN |
4 |
134,258,018 (GRCm39) |
missense |
probably null |
1.00 |
|
IGL02218:Mtfr1l
|
APN |
4 |
134,256,491 (GRCm39) |
missense |
probably benign |
0.39 |
|
IGL02338:Mtfr1l
|
APN |
4 |
134,258,054 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02454:Mtfr1l
|
APN |
4 |
134,257,696 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03102:Mtfr1l
|
APN |
4 |
134,259,543 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1183:Mtfr1l
|
UTSW |
4 |
134,256,436 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6620:Mtfr1l
|
UTSW |
4 |
134,256,394 (GRCm39) |
splice site |
probably null |
|
|
R7363:Mtfr1l
|
UTSW |
4 |
134,256,577 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9517:Mtfr1l
|
UTSW |
4 |
134,256,515 (GRCm39) |
missense |
probably benign |
|
|
R9790:Mtfr1l
|
UTSW |
4 |
134,258,063 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9791:Mtfr1l
|
UTSW |
4 |
134,258,063 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1176:Mtfr1l
|
UTSW |
4 |
134,257,990 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACTAGAATTAGCAGGTGGTATGGC -3'
(R):5'- CCTTTAACCATTGGCGGTGC -3'
Sequencing Primer
(F):5'- GTATGGCTGTTCTGGCTCCC -3'
(R):5'- CGGTGCTGGTTTTAGTAATGGC -3'
|
| Posted On |
2015-07-06 |
Incidental Mutation