Incidental Mutation 'R0577:Mov10l1'
ID |
56276 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mov10l1
|
Ensembl Gene |
ENSMUSG00000015365 |
Gene Name |
Mov10 like RISC complex RNA helicase 1 |
Synonyms |
CHAMP, Csm |
MMRRC Submission |
038767-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.197)
|
Stock # |
R0577 (G1)
|
Quality Score |
161 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
88867112-88939355 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 88889930 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 533
(Y533C)
|
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: Y533C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000015509 Gene: ENSMUSG00000015365 AA Change: Y533C
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: Y585C
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000118437 Gene: ENSMUSG00000015365 AA Change: Y585C
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 |
|
Meta Mutation Damage Score |
0.1399 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.5%
- 20x: 95.2%
|
Validation Efficiency |
97% (30/31) |
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: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aars1 |
T |
A |
8: 111,769,910 (GRCm39) |
H336Q |
probably benign |
Het |
Abcc2 |
A |
T |
19: 43,807,840 (GRCm39) |
D827V |
probably damaging |
Het |
Asph |
G |
T |
4: 9,604,620 (GRCm39) |
A139E |
probably benign |
Het |
Bag3 |
T |
C |
7: 128,125,611 (GRCm39) |
M10T |
probably benign |
Het |
Bod1l |
T |
C |
5: 41,952,230 (GRCm39) |
D2894G |
probably damaging |
Het |
Cdk12 |
T |
C |
11: 98,094,332 (GRCm39) |
S47P |
probably damaging |
Het |
Dchs1 |
C |
T |
7: 105,413,462 (GRCm39) |
V1118I |
possibly damaging |
Het |
Ddi2 |
A |
T |
4: 141,411,818 (GRCm39) |
C365S |
possibly damaging |
Het |
Eef1g |
A |
G |
19: 8,950,406 (GRCm39) |
D264G |
probably benign |
Het |
Fbxw17 |
T |
C |
13: 50,585,619 (GRCm39) |
L274P |
probably benign |
Het |
Gpc6 |
A |
G |
14: 117,673,420 (GRCm39) |
T226A |
probably benign |
Het |
Klf12 |
T |
A |
14: 100,260,585 (GRCm39) |
Y48F |
probably damaging |
Het |
Klhdc4 |
C |
T |
8: 122,548,090 (GRCm39) |
A67T |
probably damaging |
Het |
Macir |
C |
T |
1: 97,589,551 (GRCm39) |
|
probably null |
Het |
Madd |
C |
T |
2: 90,968,740 (GRCm39) |
E1596K |
possibly damaging |
Het |
Mtif2 |
G |
T |
11: 29,490,862 (GRCm39) |
|
probably null |
Het |
Mtmr6 |
G |
A |
14: 60,534,087 (GRCm39) |
V442I |
possibly damaging |
Het |
Or4k15b |
C |
T |
14: 50,272,249 (GRCm39) |
G204R |
probably damaging |
Het |
Or5ac23 |
A |
T |
16: 59,149,061 (GRCm39) |
D270E |
probably benign |
Het |
Or9i16 |
T |
C |
19: 13,865,167 (GRCm39) |
T136A |
probably damaging |
Het |
Pdcd11 |
A |
G |
19: 47,087,271 (GRCm39) |
N277S |
probably benign |
Het |
Pias2 |
A |
T |
18: 77,184,977 (GRCm39) |
L12F |
probably damaging |
Het |
Potefam1 |
G |
T |
2: 111,024,694 (GRCm39) |
Q57K |
probably benign |
Het |
Rnf213 |
G |
T |
11: 119,334,106 (GRCm39) |
R3105L |
probably damaging |
Het |
Rps11 |
A |
G |
7: 44,772,274 (GRCm39) |
V111A |
probably benign |
Het |
Rrs1 |
C |
A |
1: 9,616,026 (GRCm39) |
|
probably null |
Het |
Thsd7a |
T |
C |
6: 12,321,047 (GRCm39) |
T1543A |
possibly damaging |
Het |
Vmn2r86 |
C |
A |
10: 130,288,444 (GRCm39) |
R352S |
probably benign |
Het |
Zfp141 |
T |
C |
7: 42,125,938 (GRCm39) |
N178S |
probably benign |
Het |
Zfp955a |
A |
T |
17: 33,461,068 (GRCm39) |
F355I |
probably damaging |
Het |
|
Other mutations in Mov10l1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00955:Mov10l1
|
APN |
15 |
88,879,192 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TCCCATTTCTGTCCTTGGAAGCAAC -3'
(R):5'- TCATCATGTACACAGTGCCCAAAGC -3'
Sequencing Primer
(F):5'- TGTCCTTGGAAGCAACATCTAC -3'
(R):5'- ACACGGCTTACGAGTAGTTC -3'
|
Posted On |
2013-07-11 |