Incidental Mutation 'R4226:Dnm1l'
| ID |
320056 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dnm1l
|
| Ensembl Gene |
ENSMUSG00000022789 |
| Gene Name |
dynamin 1-like |
| Synonyms |
Drp1, python, 6330417M19Rik, Dnmlp1 |
| MMRRC Submission |
041046-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4226 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
16130094-16176823 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 16132251 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 653
(H653Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093945
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023477]
[ENSMUST00000059955]
[ENSMUST00000096229]
[ENSMUST00000115749]
[ENSMUST00000159683]
[ENSMUST00000230022]
[ENSMUST00000230980]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000023477
AA Change: H640Q
PolyPhen 2
Score 0.632 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000023477
Gene: ENSMUSG00000022789
AA Change: H640Q
| Domain | Start | End | E-Value | Type |
|---|
|
DYNc
|
1 |
255 |
9.83e-124 |
SMART |
|
low complexity region
|
556 |
571 |
N/A |
INTRINSIC |
|
GED
|
602 |
693 |
2.52e-45 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000059955
|
| SMART Domains |
Protein: ENSMUSP00000055277
Gene: ENSMUSG00000022792
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:tRNA-synt_1b
|
64 |
370 |
5.9e-74 |
PFAM |
|
Blast:S4
|
403 |
466 |
1e-10 |
BLAST |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000096229
AA Change: H653Q
PolyPhen 2
Score 0.801 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000093945
Gene: ENSMUSG00000022789
AA Change: H653Q
| Domain | Start | End | E-Value | Type |
|---|
|
DYNc
|
1 |
268 |
1.75e-120 |
SMART |
|
low complexity region
|
569 |
584 |
N/A |
INTRINSIC |
|
GED
|
615 |
706 |
2.52e-45 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000115749
AA Change: H528Q
PolyPhen 2
Score 0.736 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000111415
Gene: ENSMUSG00000022789
AA Change: H528Q
| Domain | Start | End | E-Value | Type |
|---|
|
DYNc
|
1 |
261 |
2.08e-122 |
SMART |
|
low complexity region
|
573 |
588 |
N/A |
INTRINSIC |
|
GED
|
619 |
710 |
2.52e-45 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159683
|
| SMART Domains |
Protein: ENSMUSP00000124606
Gene: ENSMUSG00000022792
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:tRNA-synt_1b
|
64 |
332 |
1.4e-63 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230022
AA Change: H553Q
PolyPhen 2
Score 0.261 (Sensitivity: 0.91; Specificity: 0.88)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230958
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000230980
AA Change: H657Q
PolyPhen 2
Score 0.763 (Sensitivity: 0.85; Specificity: 0.92)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a member of the dynamin family. The encoded protein is localized to the cytoplasm and mitochondrial membrane, is involved in mitochondrial and peroxisomal division, and is essential for mitochondrial fission. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 2. [provided by RefSeq, Feb 2013]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality at E11.5 with internal hemorrhage and small size. Mice heterozygous for an ENU induced allele have dilated cardiomyopathy and congestive heart failure, homozygous are embryonic lethal with posterior truncation at E11.5. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930449I24Rik |
T |
A |
5: 146,441,690 (GRCm39) |
V279E |
possibly damaging |
Het |
| Ache |
T |
C |
5: 137,289,152 (GRCm39) |
V286A |
possibly damaging |
Het |
| Amotl1 |
T |
C |
9: 14,504,974 (GRCm39) |
N115S |
probably benign |
Het |
| Aoah |
A |
T |
13: 21,163,696 (GRCm39) |
Y333F |
possibly damaging |
Het |
| Ap4m1 |
A |
T |
5: 138,171,079 (GRCm39) |
R74* |
probably null |
Het |
| Arhgef5 |
C |
T |
6: 43,256,432 (GRCm39) |
A1180V |
probably damaging |
Het |
| Birc6 |
T |
C |
17: 74,926,835 (GRCm39) |
|
probably null |
Het |
| Capn11 |
A |
G |
17: 45,953,392 (GRCm39) |
|
probably null |
Het |
| Ccdc146 |
T |
A |
5: 21,527,756 (GRCm39) |
I187L |
probably benign |
Het |
| Cfh |
A |
T |
1: 140,036,664 (GRCm39) |
C360S |
probably damaging |
Het |
| Csmd1 |
T |
C |
8: 16,050,490 (GRCm39) |
N2249D |
probably damaging |
Het |
| Cyb5r4 |
T |
G |
9: 86,939,282 (GRCm39) |
I355S |
probably damaging |
Het |
| Frmd4a |
C |
T |
2: 4,337,889 (GRCm39) |
R32C |
probably benign |
Het |
| Gm16503 |
C |
T |
4: 147,625,725 (GRCm39) |
S73L |
unknown |
Het |
| Hnrnpll |
A |
T |
17: 80,357,234 (GRCm39) |
|
probably null |
Het |
| Igf1r |
T |
A |
7: 67,844,826 (GRCm39) |
Y866* |
probably null |
Het |
| Lct |
T |
C |
1: 128,231,963 (GRCm39) |
M629V |
probably damaging |
Het |
| Mc1r |
A |
G |
8: 124,134,595 (GRCm39) |
N116S |
possibly damaging |
Het |
| Micu2 |
T |
C |
14: 58,169,742 (GRCm39) |
K203E |
possibly damaging |
Het |
| Mybpc1 |
C |
T |
10: 88,409,387 (GRCm39) |
W36* |
probably null |
Het |
| Nsd1 |
C |
T |
13: 55,408,214 (GRCm39) |
T1286I |
probably damaging |
Het |
| Or2a56 |
A |
G |
6: 42,932,689 (GRCm39) |
T86A |
probably benign |
Het |
| Or51l14 |
T |
C |
7: 103,100,784 (GRCm39) |
M80T |
probably benign |
Het |
| Pnpla3 |
C |
A |
15: 84,063,391 (GRCm39) |
N256K |
probably benign |
Het |
| Polh |
A |
G |
17: 46,483,520 (GRCm39) |
S582P |
probably benign |
Het |
| Rnaseh2a |
G |
A |
8: 85,686,702 (GRCm39) |
T149I |
possibly damaging |
Het |
| Ryr1 |
A |
C |
7: 28,761,576 (GRCm39) |
Y3190* |
probably null |
Het |
| Sec31b |
T |
A |
19: 44,520,149 (GRCm39) |
M212L |
probably benign |
Het |
| Smc4 |
A |
G |
3: 68,938,800 (GRCm39) |
E950G |
probably benign |
Het |
| Tlr1 |
A |
T |
5: 65,083,060 (GRCm39) |
S506T |
probably damaging |
Het |
| Tmem181a |
T |
A |
17: 6,346,061 (GRCm39) |
L185H |
probably damaging |
Het |
| Tmem236 |
G |
T |
2: 14,179,437 (GRCm39) |
E13* |
probably null |
Het |
| Tmprss6 |
C |
T |
15: 78,330,899 (GRCm39) |
V43M |
probably damaging |
Het |
| Vegfc |
A |
G |
8: 54,612,445 (GRCm39) |
Y156C |
probably damaging |
Het |
| Vmn1r39 |
T |
C |
6: 66,781,703 (GRCm39) |
H205R |
possibly damaging |
Het |
| Wnk2 |
C |
T |
13: 49,244,313 (GRCm39) |
D508N |
probably damaging |
Het |
| Zan |
T |
C |
5: 137,422,240 (GRCm39) |
N2793D |
unknown |
Het |
|
| Other mutations in Dnm1l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00675:Dnm1l
|
APN |
16 |
16,151,691 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL00696:Dnm1l
|
APN |
16 |
16,160,579 (GRCm39) |
missense |
probably benign |
|
|
IGL01146:Dnm1l
|
APN |
16 |
16,132,189 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01385:Dnm1l
|
APN |
16 |
16,159,317 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01694:Dnm1l
|
APN |
16 |
16,134,515 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL02250:Dnm1l
|
APN |
16 |
16,139,550 (GRCm39) |
splice site |
probably benign |
|
|
IGL02335:Dnm1l
|
APN |
16 |
16,160,604 (GRCm39) |
intron |
probably benign |
|
|
IGL02345:Dnm1l
|
APN |
16 |
16,147,758 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
IGL02403:Dnm1l
|
APN |
16 |
16,154,840 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
IGL02684:Dnm1l
|
APN |
16 |
16,139,521 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02869:Dnm1l
|
APN |
16 |
16,159,288 (GRCm39) |
nonsense |
probably null |
|
|
IGL03388:Dnm1l
|
APN |
16 |
16,131,916 (GRCm39) |
splice site |
probably benign |
|
|
welter
|
UTSW |
16 |
16,139,510 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0068:Dnm1l
|
UTSW |
16 |
16,141,883 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0068:Dnm1l
|
UTSW |
16 |
16,141,883 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1259:Dnm1l
|
UTSW |
16 |
16,141,870 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R1554:Dnm1l
|
UTSW |
16 |
16,159,290 (GRCm39) |
missense |
probably benign |
0.13 |
|
R1756:Dnm1l
|
UTSW |
16 |
16,160,559 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1913:Dnm1l
|
UTSW |
16 |
16,147,830 (GRCm39) |
missense |
probably benign |
0.45 |
|
R2906:Dnm1l
|
UTSW |
16 |
16,132,175 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2907:Dnm1l
|
UTSW |
16 |
16,132,175 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R3756:Dnm1l
|
UTSW |
16 |
16,139,476 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4414:Dnm1l
|
UTSW |
16 |
16,160,559 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5287:Dnm1l
|
UTSW |
16 |
16,151,732 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5574:Dnm1l
|
UTSW |
16 |
16,147,685 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5653:Dnm1l
|
UTSW |
16 |
16,137,353 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6113:Dnm1l
|
UTSW |
16 |
16,158,867 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6320:Dnm1l
|
UTSW |
16 |
16,149,952 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6644:Dnm1l
|
UTSW |
16 |
16,147,737 (GRCm39) |
missense |
probably benign |
0.14 |
|
R6995:Dnm1l
|
UTSW |
16 |
16,147,671 (GRCm39) |
nonsense |
probably null |
|
|
R7309:Dnm1l
|
UTSW |
16 |
16,139,510 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7422:Dnm1l
|
UTSW |
16 |
16,136,338 (GRCm39) |
missense |
probably benign |
|
|
R8399:Dnm1l
|
UTSW |
16 |
16,139,536 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8444:Dnm1l
|
UTSW |
16 |
16,158,906 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8536:Dnm1l
|
UTSW |
16 |
16,176,639 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9151:Dnm1l
|
UTSW |
16 |
16,176,668 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TATGTGTACATCCCAGGGAGAAAG -3'
(R):5'- CAAGGATTTTGACTTTGCTTATTGC -3'
Sequencing Primer
(F):5'- AGATTGAGAACAATTTCACAGTTACC -3'
(R):5'- ACTTTGTTTGGACCCATTATCACAG -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation