Incidental Mutation 'R6620:Mtfr1l'
| ID |
528126 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mtfr1l
|
| Ensembl Gene |
ENSMUSG00000046671 |
| Gene Name |
mitochondrial fission regulator 1-like |
| Synonyms |
2410166I05Rik, Fam54b |
| MMRRC Submission |
044743-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.146)
|
| Stock # |
R6620 (G1)
|
| Quality Score |
153.008 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
134252866-134262698 bp(-) (GRCm39) |
| Type of Mutation |
splice site (6 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 134256394 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111983
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102550]
[ENSMUST00000116279]
[ENSMUST00000131613]
[ENSMUST00000146808]
[ENSMUST00000154769]
|
| AlphaFold |
Q9CWE0 |
| Predicted Effect |
probably null
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 null
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 |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.7%
|
| Validation Efficiency |
100% (35/35) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad9 |
G |
T |
3: 36,120,294 (GRCm39) |
A13S |
possibly damaging |
Het |
| Ahnak |
G |
A |
19: 8,992,674 (GRCm39) |
E4653K |
possibly damaging |
Het |
| Apc2 |
C |
T |
10: 80,149,401 (GRCm39) |
P1485L |
probably damaging |
Het |
| Atp9b |
A |
T |
18: 80,851,902 (GRCm39) |
L397* |
probably null |
Het |
| Ces1e |
C |
A |
8: 93,950,546 (GRCm39) |
K79N |
probably damaging |
Het |
| Col12a1 |
A |
C |
9: 79,527,331 (GRCm39) |
I2666M |
probably damaging |
Het |
| Dock10 |
T |
A |
1: 80,570,355 (GRCm39) |
N361I |
probably benign |
Het |
| Dock3 |
C |
A |
9: 106,815,125 (GRCm39) |
M1247I |
probably benign |
Het |
| Evi5l |
C |
A |
8: 4,256,674 (GRCm39) |
A720E |
possibly damaging |
Het |
| F5 |
T |
C |
1: 164,014,375 (GRCm39) |
F549L |
probably damaging |
Het |
| Gpx2 |
T |
C |
12: 76,839,674 (GRCm39) |
N108S |
possibly damaging |
Het |
| Ifnar1 |
T |
C |
16: 91,293,155 (GRCm39) |
|
probably null |
Het |
| Kcnj16 |
T |
C |
11: 110,915,473 (GRCm39) |
V45A |
probably damaging |
Het |
| Kng1 |
T |
C |
16: 22,900,232 (GRCm39) |
L402P |
possibly damaging |
Het |
| Lct |
C |
A |
1: 128,222,809 (GRCm39) |
|
probably null |
Het |
| Lmo7 |
G |
T |
14: 102,112,888 (GRCm39) |
K106N |
probably benign |
Het |
| Map3k13 |
A |
T |
16: 21,711,061 (GRCm39) |
I115F |
possibly damaging |
Het |
| Mapre2 |
T |
C |
18: 23,991,002 (GRCm39) |
V123A |
probably benign |
Het |
| Or10g6 |
T |
A |
9: 39,934,225 (GRCm39) |
C179S |
probably damaging |
Het |
| Or4c99 |
A |
G |
2: 88,356,743 (GRCm39) |
Y272C |
probably damaging |
Het |
| Pbxip1 |
G |
A |
3: 89,355,133 (GRCm39) |
V551I |
probably benign |
Het |
| Pcdha8 |
T |
C |
18: 37,125,581 (GRCm39) |
I21T |
probably benign |
Het |
| Plekha5 |
G |
A |
6: 140,518,601 (GRCm39) |
R296Q |
probably damaging |
Het |
| Psme2 |
A |
C |
14: 55,825,928 (GRCm39) |
D126E |
probably damaging |
Het |
| Psmg2 |
T |
C |
18: 67,774,807 (GRCm39) |
|
probably null |
Het |
| Ranbp2 |
A |
T |
10: 58,291,629 (GRCm39) |
|
probably null |
Het |
| Sdr39u1 |
C |
T |
14: 56,135,172 (GRCm39) |
R257H |
probably damaging |
Het |
| Sorbs2 |
G |
T |
8: 46,249,213 (GRCm39) |
R802S |
probably damaging |
Het |
| Spata31 |
A |
G |
13: 65,067,571 (GRCm39) |
N78D |
possibly damaging |
Het |
| Spatc1l |
A |
G |
10: 76,405,756 (GRCm39) |
D320G |
probably damaging |
Het |
| Ttc8 |
T |
C |
12: 98,923,579 (GRCm39) |
Y212H |
possibly damaging |
Het |
| Vmn2r112 |
G |
A |
17: 22,822,082 (GRCm39) |
M253I |
probably benign |
Het |
| Zbed5 |
A |
G |
5: 129,932,130 (GRCm39) |
E693G |
possibly damaging |
Het |
| Zfp808 |
T |
A |
13: 62,320,638 (GRCm39) |
N622K |
probably benign |
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 |
|
R4389:Mtfr1l
|
UTSW |
4 |
134,259,953 (GRCm39) |
utr 5 prime |
probably benign |
|
|
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'- GCTGCAGTCTTAACACTCGAC -3'
(R):5'- AAGTTCGAATGTCTCTTCGCC -3'
Sequencing Primer
(F):5'- GTCACTCAGCAAGCTTTG -3'
(R):5'- AGGTCCCTGAGCTCCCAAC -3'
|
| Posted On |
2018-07-24 |
Incidental Mutation