Incidental Mutation 'IGL00955:Mov10l1'
| ID |
29085 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mov10l1
|
| Ensembl Gene |
ENSMUSG00000015365 |
| Gene Name |
Mov10 like RISC complex RNA helicase 1 |
| Synonyms |
CHAMP, Csm |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.222)
|
| Stock # |
IGL00955
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
88867112-88939355 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 88879192 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 184
(Y184C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000015509
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000015509]
[ENSMUST00000146993]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000015509
AA Change: Y184C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000015509
Gene: ENSMUSG00000015365
AA Change: Y184C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
52 |
65 |
N/A |
INTRINSIC |
|
low complexity region
|
338 |
349 |
N/A |
INTRINSIC |
|
Blast:AAA
|
444 |
526 |
2e-7 |
BLAST |
|
internal_repeat_1
|
615 |
651 |
5.23e-10 |
PROSPERO |
|
internal_repeat_1
|
648 |
696 |
5.23e-10 |
PROSPERO |
|
Pfam:AAA_11
|
746 |
852 |
1.4e-17 |
PFAM |
|
Pfam:AAA_30
|
746 |
933 |
5e-11 |
PFAM |
|
Pfam:AAA_19
|
754 |
826 |
1.5e-10 |
PFAM |
|
Pfam:AAA_11
|
855 |
928 |
1.3e-18 |
PFAM |
|
Pfam:AAA_12
|
935 |
1152 |
3.7e-44 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000146993
AA Change: Y236C
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000118437
Gene: ENSMUSG00000015365
AA Change: Y236C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
104 |
117 |
N/A |
INTRINSIC |
|
low complexity region
|
390 |
401 |
N/A |
INTRINSIC |
|
Blast:AAA
|
496 |
578 |
2e-7 |
BLAST |
|
internal_repeat_1
|
667 |
703 |
6.08e-10 |
PROSPERO |
|
internal_repeat_1
|
700 |
748 |
6.08e-10 |
PROSPERO |
|
Pfam:AAA_11
|
798 |
903 |
1e-15 |
PFAM |
|
Pfam:AAA_30
|
798 |
985 |
1.8e-11 |
PFAM |
|
Pfam:AAA_19
|
806 |
878 |
7e-11 |
PFAM |
|
Pfam:AAA_11
|
907 |
980 |
3.2e-17 |
PFAM |
|
Pfam:AAA_12
|
987 |
1204 |
1.4e-43 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156949
|
| 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 is similar to a mouse gene that encodes a putative RNA helicase and shows testis-specific expression. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2009]
PHENOTYPE: Mice homozygous for a targeted allele lacking the helicase domain exhibit male infertility due to meiotic arrest, apoptosis, and derepression of retrotransposons in male germ cells. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arl11 |
A |
T |
14: 61,548,691 (GRCm39) |
Q167L |
probably benign |
Het |
| Ces3a |
T |
A |
8: 105,777,202 (GRCm39) |
V175E |
probably damaging |
Het |
| Cherp |
C |
T |
8: 73,224,038 (GRCm39) |
E140K |
probably damaging |
Het |
| Clpx |
A |
T |
9: 65,231,552 (GRCm39) |
T546S |
probably damaging |
Het |
| Csgalnact2 |
A |
G |
6: 118,106,225 (GRCm39) |
L31P |
probably damaging |
Het |
| Cxcr1 |
A |
T |
1: 74,231,379 (GRCm39) |
F214L |
probably benign |
Het |
| Cyp2c67 |
T |
A |
19: 39,631,829 (GRCm39) |
T123S |
possibly damaging |
Het |
| Dbt |
G |
A |
3: 116,339,763 (GRCm39) |
G384S |
probably benign |
Het |
| Dzank1 |
G |
A |
2: 144,332,094 (GRCm39) |
T414I |
probably benign |
Het |
| Erich3 |
A |
G |
3: 154,454,156 (GRCm39) |
I641V |
probably benign |
Het |
| Gtf2e1 |
A |
T |
16: 37,356,282 (GRCm39) |
D83E |
possibly damaging |
Het |
| Hars2 |
T |
C |
18: 36,922,410 (GRCm39) |
|
probably benign |
Het |
| Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
| Kcnh2 |
T |
C |
5: 24,529,964 (GRCm39) |
D372G |
probably damaging |
Het |
| Kcnk2 |
A |
T |
1: 188,975,211 (GRCm39) |
I264N |
probably damaging |
Het |
| Kctd4 |
A |
G |
14: 76,200,668 (GRCm39) |
D213G |
probably damaging |
Het |
| Lhx9 |
T |
C |
1: 138,756,418 (GRCm39) |
T323A |
possibly damaging |
Het |
| Lilra6 |
C |
A |
7: 3,914,403 (GRCm39) |
|
probably benign |
Het |
| Meig1 |
T |
C |
2: 3,410,311 (GRCm39) |
D63G |
probably damaging |
Het |
| Mrpl24 |
T |
A |
3: 87,829,526 (GRCm39) |
L91* |
probably null |
Het |
| Mup11 |
C |
T |
4: 60,615,549 (GRCm39) |
R175H |
probably benign |
Het |
| Nbea |
T |
C |
3: 55,912,893 (GRCm39) |
K965E |
possibly damaging |
Het |
| Or52ab7 |
C |
A |
7: 102,978,528 (GRCm39) |
H278Q |
probably damaging |
Het |
| Papss1 |
G |
A |
3: 131,305,710 (GRCm39) |
E252K |
probably benign |
Het |
| Robo2 |
A |
T |
16: 73,812,860 (GRCm39) |
L278Q |
probably damaging |
Het |
| Sned1 |
A |
T |
1: 93,202,125 (GRCm39) |
I638F |
probably damaging |
Het |
| Spin1 |
T |
C |
13: 51,298,577 (GRCm39) |
|
probably null |
Het |
| Taar9 |
T |
C |
10: 23,985,429 (GRCm39) |
T2A |
probably benign |
Het |
| Tbc1d8b |
T |
C |
X: 138,626,629 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Mov10l1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01110:Mov10l1
|
APN |
15 |
88,905,460 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL01369:Mov10l1
|
APN |
15 |
88,909,040 (GRCm39) |
splice site |
probably benign |
|
|
IGL01531:Mov10l1
|
APN |
15 |
88,938,555 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01712:Mov10l1
|
APN |
15 |
88,908,969 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02330:Mov10l1
|
APN |
15 |
88,910,693 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02540:Mov10l1
|
APN |
15 |
88,902,414 (GRCm39) |
missense |
probably benign |
|
|
IGL02938:Mov10l1
|
APN |
15 |
88,872,729 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0382:Mov10l1
|
UTSW |
15 |
88,869,796 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R0437:Mov10l1
|
UTSW |
15 |
88,889,515 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0504:Mov10l1
|
UTSW |
15 |
88,883,042 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0538:Mov10l1
|
UTSW |
15 |
88,879,063 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R0577:Mov10l1
|
UTSW |
15 |
88,889,930 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0592:Mov10l1
|
UTSW |
15 |
88,882,969 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0972:Mov10l1
|
UTSW |
15 |
88,905,482 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1386:Mov10l1
|
UTSW |
15 |
88,895,589 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R1737:Mov10l1
|
UTSW |
15 |
88,895,607 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R2120:Mov10l1
|
UTSW |
15 |
88,891,830 (GRCm39) |
missense |
probably benign |
0.30 |
|
R3740:Mov10l1
|
UTSW |
15 |
88,896,345 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R3741:Mov10l1
|
UTSW |
15 |
88,896,345 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R3846:Mov10l1
|
UTSW |
15 |
88,896,345 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R3850:Mov10l1
|
UTSW |
15 |
88,889,898 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R3964:Mov10l1
|
UTSW |
15 |
88,896,366 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3965:Mov10l1
|
UTSW |
15 |
88,896,366 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4049:Mov10l1
|
UTSW |
15 |
88,879,235 (GRCm39) |
splice site |
probably benign |
|
|
R4836:Mov10l1
|
UTSW |
15 |
88,904,472 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R5233:Mov10l1
|
UTSW |
15 |
88,867,235 (GRCm39) |
missense |
probably benign |
|
|
R5466:Mov10l1
|
UTSW |
15 |
88,869,904 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5552:Mov10l1
|
UTSW |
15 |
88,938,569 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5780:Mov10l1
|
UTSW |
15 |
88,896,181 (GRCm39) |
missense |
probably benign |
|
|
R6275:Mov10l1
|
UTSW |
15 |
88,910,823 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6326:Mov10l1
|
UTSW |
15 |
88,879,098 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6652:Mov10l1
|
UTSW |
15 |
88,878,105 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6793:Mov10l1
|
UTSW |
15 |
88,880,387 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7278:Mov10l1
|
UTSW |
15 |
88,878,071 (GRCm39) |
missense |
probably benign |
0.18 |
|
R7733:Mov10l1
|
UTSW |
15 |
88,909,004 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7998:Mov10l1
|
UTSW |
15 |
88,937,642 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8260:Mov10l1
|
UTSW |
15 |
88,896,313 (GRCm39) |
missense |
probably benign |
|
|
R8426:Mov10l1
|
UTSW |
15 |
88,881,608 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8855:Mov10l1
|
UTSW |
15 |
88,896,169 (GRCm39) |
missense |
probably benign |
0.13 |
|
R8866:Mov10l1
|
UTSW |
15 |
88,896,169 (GRCm39) |
missense |
probably benign |
0.13 |
|
R9154:Mov10l1
|
UTSW |
15 |
88,896,118 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R9164:Mov10l1
|
UTSW |
15 |
88,896,361 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9194:Mov10l1
|
UTSW |
15 |
88,931,023 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9353:Mov10l1
|
UTSW |
15 |
88,872,622 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R9470:Mov10l1
|
UTSW |
15 |
88,904,518 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Mov10l1
|
UTSW |
15 |
88,937,614 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Mov10l1
|
UTSW |
15 |
88,902,371 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Mov10l1
|
UTSW |
15 |
88,880,339 (GRCm39) |
missense |
probably benign |
0.36 |
|
| Posted On |
2013-04-17 |
Incidental Mutation