Incidental Mutation 'IGL01712:Mov10l1'
ID |
104830 |
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: 0.197)
|
Stock # |
IGL01712
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
88867112-88939355 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 88908969 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 997
(S997P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000118437
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000015509]
[ENSMUST00000146993]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000015509
AA Change: S945P
PolyPhen 2
Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000015509 Gene: ENSMUSG00000015365 AA Change: S945P
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 |
unknown
Transcript: ENSMUST00000143030
AA Change: S67P
|
SMART Domains |
Protein: ENSMUSP00000134200 Gene: ENSMUSG00000015365 AA Change: S67P
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: S997P
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000118437 Gene: ENSMUSG00000015365 AA Change: S997P
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: ENSMUST00000148198
|
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl2fm3 |
T |
A |
3: 59,776,321 (GRCm39) |
I164N |
possibly damaging |
Het |
Adgrb3 |
A |
G |
1: 25,865,360 (GRCm39) |
V161A |
probably benign |
Het |
Arhgdib |
G |
A |
6: 136,901,195 (GRCm39) |
T178M |
probably damaging |
Het |
Atp11a |
T |
A |
8: 12,901,138 (GRCm39) |
I989K |
probably benign |
Het |
Bcam |
T |
C |
7: 19,492,692 (GRCm39) |
S498G |
probably damaging |
Het |
Bcas3 |
A |
G |
11: 85,471,874 (GRCm39) |
I728V |
probably damaging |
Het |
Cep57 |
G |
T |
9: 13,724,713 (GRCm39) |
P119Q |
possibly damaging |
Het |
Cimip2a |
T |
C |
2: 25,108,804 (GRCm39) |
|
probably benign |
Het |
Clip4 |
T |
A |
17: 72,106,036 (GRCm39) |
I73N |
probably damaging |
Het |
Cpa4 |
A |
G |
6: 30,590,815 (GRCm39) |
D371G |
possibly damaging |
Het |
Dnah7a |
A |
G |
1: 53,462,429 (GRCm39) |
S3721P |
probably benign |
Het |
Fcrla |
T |
C |
1: 170,749,192 (GRCm39) |
|
probably null |
Het |
Foxg1 |
T |
C |
12: 49,432,403 (GRCm39) |
S379P |
possibly damaging |
Het |
Gatm |
T |
A |
2: 122,431,306 (GRCm39) |
Y227F |
possibly damaging |
Het |
Grid2 |
A |
T |
6: 64,642,899 (GRCm39) |
D887V |
possibly damaging |
Het |
Gtpbp6 |
A |
T |
5: 110,252,245 (GRCm39) |
I429N |
probably benign |
Het |
Ighmbp2 |
A |
G |
19: 3,323,038 (GRCm39) |
|
probably benign |
Het |
Irs4 |
T |
C |
X: 140,505,395 (GRCm39) |
N934D |
unknown |
Het |
Kif16b |
T |
A |
2: 142,490,391 (GRCm39) |
N1257I |
probably damaging |
Het |
L1cam |
T |
C |
X: 72,908,044 (GRCm39) |
Y169C |
probably damaging |
Het |
L3mbtl3 |
A |
T |
10: 26,152,133 (GRCm39) |
M821K |
probably damaging |
Het |
Lig3 |
A |
G |
11: 82,680,367 (GRCm39) |
|
probably benign |
Het |
Lpin2 |
T |
A |
17: 71,522,063 (GRCm39) |
D32E |
probably damaging |
Het |
Mcoln3 |
T |
C |
3: 145,834,019 (GRCm39) |
|
probably benign |
Het |
Mgst2 |
T |
C |
3: 51,571,992 (GRCm39) |
V40A |
probably damaging |
Het |
Mycbpap |
G |
T |
11: 94,403,481 (GRCm39) |
H187Q |
possibly damaging |
Het |
Onecut2 |
T |
A |
18: 64,519,673 (GRCm39) |
S478T |
probably damaging |
Het |
Or2n1d |
A |
T |
17: 38,646,848 (GRCm39) |
T267S |
probably benign |
Het |
Or52h7 |
T |
C |
7: 104,214,226 (GRCm39) |
V266A |
probably benign |
Het |
Pcdhb5 |
A |
T |
18: 37,454,306 (GRCm39) |
I229F |
probably damaging |
Het |
Pfas |
A |
G |
11: 68,881,886 (GRCm39) |
V933A |
probably benign |
Het |
Phldb2 |
A |
T |
16: 45,571,792 (GRCm39) |
I1200N |
probably damaging |
Het |
Pla2g4e |
C |
A |
2: 120,019,884 (GRCm39) |
|
probably null |
Het |
Prr36 |
G |
A |
8: 4,265,243 (GRCm39) |
P169L |
probably damaging |
Het |
Rhot2 |
A |
G |
17: 26,060,334 (GRCm39) |
|
probably null |
Het |
Serpina3f |
C |
T |
12: 104,184,657 (GRCm39) |
P267L |
probably damaging |
Het |
Sppl2a |
C |
T |
2: 126,746,823 (GRCm39) |
|
probably benign |
Het |
Tas2r122 |
A |
T |
6: 132,688,725 (GRCm39) |
M56K |
possibly damaging |
Het |
Tbxas1 |
A |
G |
6: 39,057,994 (GRCm39) |
T450A |
probably benign |
Het |
Tex16 |
T |
C |
X: 111,003,451 (GRCm39) |
S87P |
probably damaging |
Het |
Them7 |
T |
A |
2: 105,209,230 (GRCm39) |
F183L |
possibly damaging |
Het |
Tmbim7 |
A |
G |
5: 3,720,074 (GRCm39) |
T116A |
probably damaging |
Het |
Tomm40 |
G |
T |
7: 19,437,288 (GRCm39) |
S224R |
probably benign |
Het |
Top3a |
A |
T |
11: 60,652,562 (GRCm39) |
I84N |
probably damaging |
Het |
Vmn1r28 |
A |
G |
6: 58,242,393 (GRCm39) |
T79A |
probably benign |
Het |
Vmn2r61 |
A |
T |
7: 41,909,661 (GRCm39) |
Y62F |
probably damaging |
Het |
Zbtb42 |
T |
C |
12: 112,646,718 (GRCm39) |
C298R |
probably benign |
Het |
Zfp395 |
G |
A |
14: 65,623,836 (GRCm39) |
E102K |
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 |
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 |
2014-01-21 |