Incidental Mutation 'R5466:Mov10l1'
ID |
433256 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mov10l1
|
Ensembl Gene |
ENSMUSG00000015365 |
Gene Name |
Mov10 like RISC complex RNA helicase 1 |
Synonyms |
CHAMP, Csm |
MMRRC Submission |
043027-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.197)
|
Stock # |
R5466 (G1)
|
Quality Score |
190 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
88867112-88939355 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to C
at 88869904 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000118437
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000015509]
[ENSMUST00000015509]
[ENSMUST00000146993]
[ENSMUST00000146993]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably null
Transcript: ENSMUST00000015509
|
SMART Domains |
Protein: ENSMUSP00000015509 Gene: ENSMUSG00000015365
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 |
probably null
Transcript: ENSMUST00000015509
|
SMART Domains |
Protein: ENSMUSP00000015509 Gene: ENSMUSG00000015365
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 |
probably null
Transcript: ENSMUST00000146993
|
SMART Domains |
Protein: ENSMUSP00000118437 Gene: ENSMUSG00000015365
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 |
probably null
Transcript: ENSMUST00000146993
|
SMART Domains |
Protein: ENSMUSP00000118437 Gene: ENSMUSG00000015365
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 |
- 1x: 98.2%
- 3x: 97.3%
- 10x: 95.1%
- 20x: 90.5%
|
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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4932414N04Rik |
C |
A |
2: 68,541,733 (GRCm39) |
A17E |
probably benign |
Het |
Actc1 |
T |
C |
2: 113,880,979 (GRCm39) |
D82G |
probably damaging |
Het |
Aox1 |
G |
C |
1: 58,080,619 (GRCm39) |
E23Q |
probably damaging |
Het |
Arap3 |
A |
G |
18: 38,129,789 (GRCm39) |
V124A |
probably benign |
Het |
Armc5 |
A |
G |
7: 127,839,336 (GRCm39) |
N218S |
probably damaging |
Het |
Cacna2d1 |
T |
A |
5: 16,451,712 (GRCm39) |
V192E |
probably damaging |
Het |
Col6a5 |
T |
A |
9: 105,808,282 (GRCm39) |
E922V |
unknown |
Het |
Dennd4b |
G |
A |
3: 90,175,807 (GRCm39) |
|
probably null |
Het |
Dnah12 |
A |
G |
14: 26,493,007 (GRCm39) |
D1256G |
probably damaging |
Het |
Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
Dpy19l1 |
T |
C |
9: 24,325,684 (GRCm39) |
E707G |
probably damaging |
Het |
Farp1 |
C |
T |
14: 121,472,489 (GRCm39) |
P208L |
probably damaging |
Het |
Fgf11 |
T |
C |
11: 69,690,267 (GRCm39) |
I107V |
probably damaging |
Het |
Fuca2 |
C |
T |
10: 13,388,441 (GRCm39) |
Q406* |
probably null |
Het |
Gm10428 |
A |
G |
11: 62,643,932 (GRCm39) |
|
probably benign |
Het |
Gm17430 |
A |
G |
18: 9,726,228 (GRCm39) |
V148A |
probably benign |
Het |
Gm5930 |
A |
T |
14: 44,575,014 (GRCm39) |
N57K |
probably damaging |
Het |
Gucy2c |
T |
A |
6: 136,758,463 (GRCm39) |
K48* |
probably null |
Het |
Ip6k2 |
C |
T |
9: 108,675,661 (GRCm39) |
R109C |
probably damaging |
Het |
Kif21b |
T |
A |
1: 136,075,263 (GRCm39) |
F159I |
probably damaging |
Het |
Macf1 |
A |
T |
4: 123,346,658 (GRCm39) |
S1981T |
possibly damaging |
Het |
Mga |
T |
A |
2: 119,733,178 (GRCm39) |
L9M |
probably damaging |
Het |
Msrb1 |
A |
T |
17: 24,958,533 (GRCm39) |
H39L |
possibly damaging |
Het |
Or4c117 |
A |
T |
2: 88,955,477 (GRCm39) |
F199L |
probably benign |
Het |
Or6b1 |
A |
T |
6: 42,815,027 (GRCm39) |
T71S |
probably benign |
Het |
Pcdha1 |
G |
A |
18: 37,065,312 (GRCm39) |
A659T |
possibly damaging |
Het |
Pcm1 |
T |
A |
8: 41,725,499 (GRCm39) |
|
probably null |
Het |
Rfpl4b |
C |
A |
10: 38,697,394 (GRCm39) |
C69F |
probably damaging |
Het |
Tnn |
G |
A |
1: 159,948,106 (GRCm39) |
T869I |
possibly damaging |
Het |
Trp53i11 |
C |
A |
2: 93,029,728 (GRCm39) |
L121I |
possibly damaging |
Het |
Uimc1 |
A |
G |
13: 55,223,661 (GRCm39) |
S204P |
probably damaging |
Het |
Usp43 |
A |
T |
11: 67,804,709 (GRCm39) |
N169K |
probably damaging |
Het |
Vldlr |
A |
G |
19: 27,217,243 (GRCm39) |
|
probably null |
Het |
Vmn2r115 |
A |
G |
17: 23,579,030 (GRCm39) |
I834M |
probably damaging |
Het |
Zbtb21 |
A |
G |
16: 97,751,698 (GRCm39) |
S690P |
possibly damaging |
Het |
Zfp703 |
C |
T |
8: 27,469,233 (GRCm39) |
P299L |
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 |
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 |
|
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'- ACACCAGGTTGAAAACGGTG -3'
(R):5'- TACGCCATAGCATAAACTTATAGGGAG -3'
Sequencing Primer
(F):5'- TGCAGGGCGTTGTGACAAG -3'
(R):5'- AGGGAGACTTTACTTTTTGAATTCC -3'
|
Posted On |
2016-10-06 |