Incidental Mutation 'R7998:Mov10l1'
| ID |
616221 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mov10l1
|
| Ensembl Gene |
ENSMUSG00000015365 |
| Gene Name |
Mov10 like RISC complex RNA helicase 1 |
| Synonyms |
CHAMP, Csm |
| MMRRC Submission |
046038-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.197)
|
| Stock # |
R7998 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
88867112-88939355 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 88937642 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 1147
(V1147E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118437
(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: V1095E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000015509
Gene: ENSMUSG00000015365
AA Change: V1095E
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000134200
Gene: ENSMUSG00000015365
AA Change: V217E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AAA_11
|
2 |
51 |
1e-14 |
PFAM |
|
Pfam:AAA_12
|
58 |
275 |
5.2e-45 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000146993
AA Change: V1147E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000118437
Gene: ENSMUSG00000015365
AA Change: V1147E
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930474N05Rik |
C |
T |
14: 35,818,649 (GRCm39) |
R216C |
probably benign |
Het |
| Acsl3 |
C |
T |
1: 78,671,988 (GRCm39) |
P294L |
probably damaging |
Het |
| Alox12b |
T |
C |
11: 69,059,663 (GRCm39) |
Y572H |
probably damaging |
Het |
| Arid1b |
A |
G |
17: 5,377,959 (GRCm39) |
D1236G |
probably damaging |
Het |
| Astl |
T |
C |
2: 127,192,419 (GRCm39) |
L254P |
probably damaging |
Het |
| Btbd7 |
A |
C |
12: 102,761,499 (GRCm39) |
L562R |
probably damaging |
Het |
| Chl1 |
T |
C |
6: 103,706,250 (GRCm39) |
V1195A |
probably benign |
Het |
| Ciao2b |
T |
A |
8: 105,367,668 (GRCm39) |
S94C |
probably damaging |
Het |
| Cib1 |
A |
T |
7: 79,878,162 (GRCm39) |
Y105* |
probably null |
Het |
| Cog3 |
G |
T |
14: 75,984,533 (GRCm39) |
S94Y |
possibly damaging |
Het |
| Cpne6 |
A |
C |
14: 55,753,751 (GRCm39) |
Q403P |
probably damaging |
Het |
| Csn1s1 |
A |
G |
5: 87,822,087 (GRCm39) |
N119S |
possibly damaging |
Het |
| Cux2 |
T |
C |
5: 122,006,648 (GRCm39) |
D874G |
possibly damaging |
Het |
| Dicer1 |
A |
T |
12: 104,670,328 (GRCm39) |
F1079Y |
probably damaging |
Het |
| Dsc2 |
T |
A |
18: 20,167,720 (GRCm39) |
Q724H |
possibly damaging |
Het |
| Fbxw16 |
A |
G |
9: 109,265,766 (GRCm39) |
V351A |
probably damaging |
Het |
| G2e3 |
A |
T |
12: 51,400,624 (GRCm39) |
E59D |
probably benign |
Het |
| Gm10800 |
A |
AC |
2: 98,497,378 (GRCm39) |
|
probably null |
Het |
| Gm10837 |
G |
T |
14: 122,728,053 (GRCm39) |
|
probably benign |
Het |
| Gpr137b |
T |
C |
13: 13,533,991 (GRCm39) |
Y355C |
|
Het |
| Gpr18 |
T |
C |
14: 122,149,393 (GRCm39) |
I211V |
probably benign |
Het |
| Gstm7 |
T |
A |
3: 107,837,657 (GRCm39) |
D98V |
probably damaging |
Het |
| Hspa8 |
A |
G |
9: 40,715,810 (GRCm39) |
Y525C |
probably damaging |
Het |
| Itga7 |
T |
C |
10: 128,770,020 (GRCm39) |
S55P |
probably damaging |
Het |
| Itpr1 |
T |
C |
6: 108,394,909 (GRCm39) |
V1674A |
possibly damaging |
Het |
| Itsn1 |
G |
T |
16: 91,647,824 (GRCm39) |
G893C |
unknown |
Het |
| Kcnc1 |
A |
G |
7: 46,047,223 (GRCm39) |
D41G |
probably benign |
Het |
| Larp6 |
A |
G |
9: 60,631,638 (GRCm39) |
K137E |
probably damaging |
Het |
| Leo1 |
G |
T |
9: 75,352,558 (GRCm39) |
G34C |
probably benign |
Het |
| Map4 |
G |
A |
9: 109,908,929 (GRCm39) |
V1050M |
probably damaging |
Het |
| Mast3 |
A |
G |
8: 71,236,214 (GRCm39) |
V722A |
probably benign |
Het |
| Med28 |
T |
A |
5: 45,682,541 (GRCm39) |
V69D |
probably damaging |
Het |
| Mier1 |
T |
C |
4: 103,019,812 (GRCm39) |
F512S |
probably benign |
Het |
| Mix23 |
T |
A |
16: 35,905,403 (GRCm39) |
V65D |
probably benign |
Het |
| Mroh7 |
T |
C |
4: 106,568,478 (GRCm39) |
E409G |
probably benign |
Het |
| Muc16 |
G |
T |
9: 18,551,188 (GRCm39) |
P5035Q |
probably benign |
Het |
| Nemp1 |
C |
A |
10: 127,529,358 (GRCm39) |
S213R |
probably damaging |
Het |
| Npffr2 |
T |
C |
5: 89,731,149 (GRCm39) |
Y360H |
probably damaging |
Het |
| Nrxn2 |
T |
C |
19: 6,559,905 (GRCm39) |
V1221A |
probably damaging |
Het |
| Nup107 |
A |
G |
10: 117,593,899 (GRCm39) |
F765L |
probably damaging |
Het |
| Nup188 |
T |
C |
2: 30,220,983 (GRCm39) |
L991P |
probably damaging |
Het |
| Or13f5 |
A |
T |
4: 52,825,970 (GRCm39) |
D191V |
possibly damaging |
Het |
| Or5ac23 |
T |
A |
16: 59,149,633 (GRCm39) |
M80L |
probably benign |
Het |
| Pla2g7 |
A |
T |
17: 43,922,209 (GRCm39) |
I363L |
probably benign |
Het |
| Ppp2r1a |
T |
C |
17: 21,181,901 (GRCm39) |
F473S |
possibly damaging |
Het |
| Prex1 |
A |
G |
2: 166,428,965 (GRCm39) |
|
probably null |
Het |
| Ptov1 |
A |
G |
7: 44,514,353 (GRCm39) |
V263A |
probably damaging |
Het |
| Reg3a |
T |
C |
6: 78,358,132 (GRCm39) |
V21A |
probably benign |
Het |
| Sdk2 |
T |
A |
11: 113,750,764 (GRCm39) |
I550F |
probably benign |
Het |
| Shprh |
T |
A |
10: 11,061,085 (GRCm39) |
W1133R |
probably damaging |
Het |
| Slc28a2b |
T |
C |
2: 122,324,839 (GRCm39) |
L137P |
probably damaging |
Het |
| Syne2 |
T |
C |
12: 76,134,632 (GRCm39) |
V1297A |
probably damaging |
Het |
| Themis2 |
A |
G |
4: 132,519,875 (GRCm39) |
I50T |
probably damaging |
Het |
| Tmprss15 |
C |
A |
16: 78,798,731 (GRCm39) |
L650F |
possibly damaging |
Het |
| Ttc41 |
C |
A |
10: 86,572,711 (GRCm39) |
N694K |
probably benign |
Het |
| Ttll9 |
T |
C |
2: 152,833,546 (GRCm39) |
Y215H |
possibly damaging |
Het |
| Ttn |
C |
A |
2: 76,733,653 (GRCm39) |
V4541L |
unknown |
Het |
| Usp32 |
G |
T |
11: 84,885,252 (GRCm39) |
A1265E |
probably damaging |
Het |
| Vcan |
T |
A |
13: 89,852,446 (GRCm39) |
D838V |
probably damaging |
Het |
| Vmn2r88 |
T |
C |
14: 51,651,565 (GRCm39) |
I293T |
|
Het |
| Wdr36 |
T |
G |
18: 32,985,572 (GRCm39) |
D496E |
probably damaging |
Het |
| Wrn |
T |
C |
8: 33,782,671 (GRCm39) |
N753S |
probably benign |
Het |
| Zmat3 |
T |
C |
3: 32,395,815 (GRCm39) |
R231G |
possibly 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 |
|
|
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 |
|
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'- CTACAGAGTGAGTTCCAGCACAG -3'
(R):5'- TTTGGAAACCCCGTGTCTGC -3'
Sequencing Primer
(F):5'- GGGCTACACAGTGAAACCCTG -3'
(R):5'- TGCAGTGCAGTCTGTTACAC -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation