Incidental Mutation 'R5842:Mov10'
| ID |
450484 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mov10
|
| Ensembl Gene |
ENSMUSG00000002227 |
| Gene Name |
Mov10 RISC complex RNA helicase |
| Synonyms |
Mov-10 |
| MMRRC Submission |
043223-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.317)
|
| Stock # |
R5842 (G1)
|
| Quality Score |
147 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
104702152-104725879 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
G to A
at 104706695 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128246
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002297]
[ENSMUST00000002297]
[ENSMUST00000002303]
[ENSMUST00000106774]
[ENSMUST00000106775]
[ENSMUST00000106775]
[ENSMUST00000166979]
[ENSMUST00000166979]
[ENSMUST00000168015]
[ENSMUST00000168015]
|
| AlphaFold |
P23249 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000002297
|
| SMART Domains |
Protein: ENSMUSP00000002297
Gene: ENSMUSG00000002227
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
297 |
312 |
N/A |
INTRINSIC |
|
low complexity region
|
338 |
353 |
N/A |
INTRINSIC |
|
AAA
|
517 |
699 |
5.72e-3 |
SMART |
|
low complexity region
|
953 |
970 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000002297
|
| SMART Domains |
Protein: ENSMUSP00000002297
Gene: ENSMUSG00000002227
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
297 |
312 |
N/A |
INTRINSIC |
|
low complexity region
|
338 |
353 |
N/A |
INTRINSIC |
|
AAA
|
517 |
699 |
5.72e-3 |
SMART |
|
low complexity region
|
953 |
970 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000002303
|
| SMART Domains |
Protein: ENSMUSP00000002303
Gene: ENSMUSG00000002233
| Domain | Start | End | E-Value | Type |
|---|
|
RHO
|
8 |
181 |
9.45e-130 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106774
|
| SMART Domains |
Protein: ENSMUSP00000102386
Gene: ENSMUSG00000002227
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
297 |
312 |
N/A |
INTRINSIC |
|
low complexity region
|
338 |
353 |
N/A |
INTRINSIC |
|
AAA
|
517 |
699 |
5.72e-3 |
SMART |
|
low complexity region
|
953 |
970 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106775
|
| SMART Domains |
Protein: ENSMUSP00000102387
Gene: ENSMUSG00000002227
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
297 |
312 |
N/A |
INTRINSIC |
|
low complexity region
|
338 |
353 |
N/A |
INTRINSIC |
|
AAA
|
517 |
699 |
5.72e-3 |
SMART |
|
low complexity region
|
953 |
970 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106775
|
| SMART Domains |
Protein: ENSMUSP00000102387
Gene: ENSMUSG00000002227
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
297 |
312 |
N/A |
INTRINSIC |
|
low complexity region
|
338 |
353 |
N/A |
INTRINSIC |
|
AAA
|
517 |
699 |
5.72e-3 |
SMART |
|
low complexity region
|
953 |
970 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166979
|
| SMART Domains |
Protein: ENSMUSP00000126897
Gene: ENSMUSG00000002227
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
61 |
75 |
N/A |
INTRINSIC |
|
low complexity region
|
370 |
385 |
N/A |
INTRINSIC |
|
low complexity region
|
411 |
426 |
N/A |
INTRINSIC |
|
AAA
|
590 |
772 |
5.72e-3 |
SMART |
|
low complexity region
|
1026 |
1043 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166979
|
| SMART Domains |
Protein: ENSMUSP00000126897
Gene: ENSMUSG00000002227
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
61 |
75 |
N/A |
INTRINSIC |
|
low complexity region
|
370 |
385 |
N/A |
INTRINSIC |
|
low complexity region
|
411 |
426 |
N/A |
INTRINSIC |
|
AAA
|
590 |
772 |
5.72e-3 |
SMART |
|
low complexity region
|
1026 |
1043 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168015
|
| SMART Domains |
Protein: ENSMUSP00000128246
Gene: ENSMUSG00000002227
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
297 |
312 |
N/A |
INTRINSIC |
|
low complexity region
|
338 |
353 |
N/A |
INTRINSIC |
|
AAA
|
517 |
699 |
5.72e-3 |
SMART |
|
low complexity region
|
953 |
970 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168015
|
| SMART Domains |
Protein: ENSMUSP00000128246
Gene: ENSMUSG00000002227
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
297 |
312 |
N/A |
INTRINSIC |
|
low complexity region
|
338 |
353 |
N/A |
INTRINSIC |
|
AAA
|
517 |
699 |
5.72e-3 |
SMART |
|
low complexity region
|
953 |
970 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.4%
- 10x: 97.1%
- 20x: 90.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygous knockout is embryonic lethal. Heterozygous knockout leads to reduced dendritic branching of neurons, which affects anxiety- and/or activity-related behavior. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alpk1 |
G |
A |
3: 127,474,618 (GRCm39) |
H462Y |
probably damaging |
Het |
| Atp12a |
T |
C |
14: 56,615,747 (GRCm39) |
I503T |
probably damaging |
Het |
| Bmp6 |
T |
A |
13: 38,530,543 (GRCm39) |
V212D |
probably damaging |
Het |
| Col7a1 |
A |
G |
9: 108,794,883 (GRCm39) |
D1479G |
unknown |
Het |
| Eea1 |
A |
G |
10: 95,853,986 (GRCm39) |
D548G |
probably damaging |
Het |
| Eif5a2 |
T |
C |
3: 28,848,546 (GRCm39) |
V135A |
probably benign |
Het |
| Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
| Fstl5 |
T |
G |
3: 76,229,590 (GRCm39) |
N130K |
possibly damaging |
Het |
| Gatm |
T |
C |
2: 122,434,108 (GRCm39) |
I147V |
probably benign |
Het |
| Jakmip1 |
C |
T |
5: 37,264,612 (GRCm39) |
R418C |
probably damaging |
Het |
| Kmt2d |
G |
A |
15: 98,749,990 (GRCm39) |
|
probably benign |
Het |
| Matn2 |
A |
T |
15: 34,399,202 (GRCm39) |
D363V |
probably damaging |
Het |
| Mtpn |
C |
T |
6: 35,489,225 (GRCm39) |
D100N |
probably benign |
Het |
| Nbas |
T |
C |
12: 13,319,267 (GRCm39) |
|
probably null |
Het |
| Nlgn1 |
A |
T |
3: 26,187,892 (GRCm39) |
|
probably null |
Het |
| Nnt |
T |
A |
13: 119,531,283 (GRCm39) |
I155F |
probably damaging |
Het |
| Or5p80 |
A |
G |
7: 108,229,859 (GRCm39) |
Y220C |
probably benign |
Het |
| Pacc1 |
G |
T |
1: 191,078,986 (GRCm39) |
C223F |
probably damaging |
Het |
| Parp9 |
A |
G |
16: 35,763,778 (GRCm39) |
I19V |
possibly damaging |
Het |
| Pcdha11 |
T |
A |
18: 37,144,337 (GRCm39) |
S143T |
possibly damaging |
Het |
| Pdzph1 |
T |
G |
17: 59,281,407 (GRCm39) |
S292R |
possibly damaging |
Het |
| Pmvk |
T |
A |
3: 89,374,927 (GRCm39) |
V108D |
probably damaging |
Het |
| Rc3h2 |
T |
C |
2: 37,268,383 (GRCm39) |
T916A |
possibly damaging |
Het |
| Slc23a1 |
T |
A |
18: 35,755,935 (GRCm39) |
I393F |
probably damaging |
Het |
| Slc4a7 |
T |
A |
14: 14,778,866 (GRCm38) |
M925K |
probably damaging |
Het |
| Spag17 |
A |
G |
3: 99,846,566 (GRCm39) |
D30G |
possibly damaging |
Het |
| Syde2 |
A |
G |
3: 145,704,775 (GRCm39) |
I576V |
probably benign |
Het |
| Tgm2 |
C |
T |
2: 157,985,001 (GRCm39) |
R35H |
probably damaging |
Het |
| Tiam1 |
A |
G |
16: 89,652,887 (GRCm39) |
V745A |
probably benign |
Het |
| Timeless |
T |
C |
10: 128,083,328 (GRCm39) |
|
probably null |
Het |
| Trp53tg5 |
T |
C |
2: 164,313,289 (GRCm39) |
K129E |
possibly damaging |
Het |
| Ttc6 |
T |
C |
12: 57,783,802 (GRCm39) |
Y1754H |
probably damaging |
Het |
| Ube4b |
G |
T |
4: 149,415,887 (GRCm39) |
T1069N |
probably benign |
Het |
| Ugcg |
C |
T |
4: 59,219,545 (GRCm39) |
S294L |
possibly damaging |
Het |
| Vgll2 |
T |
C |
10: 51,901,388 (GRCm39) |
L106P |
probably damaging |
Het |
| Vsig10l |
T |
A |
7: 43,118,396 (GRCm39) |
V798E |
probably benign |
Het |
| Wdr73 |
A |
T |
7: 80,541,458 (GRCm39) |
H361Q |
probably damaging |
Het |
| Xrcc3 |
A |
T |
12: 111,770,964 (GRCm39) |
F322I |
possibly damaging |
Het |
| Ypel1 |
T |
C |
16: 16,912,851 (GRCm39) |
T26A |
possibly damaging |
Het |
|
| Other mutations in Mov10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00498:Mov10
|
APN |
3 |
104,708,263 (GRCm39) |
splice site |
probably benign |
|
|
IGL01111:Mov10
|
APN |
3 |
104,708,721 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
IGL01315:Mov10
|
APN |
3 |
104,703,261 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01463:Mov10
|
APN |
3 |
104,707,640 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02114:Mov10
|
APN |
3 |
104,702,634 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02354:Mov10
|
APN |
3 |
104,711,437 (GRCm39) |
splice site |
probably benign |
|
|
IGL02361:Mov10
|
APN |
3 |
104,711,437 (GRCm39) |
splice site |
probably benign |
|
|
IGL02692:Mov10
|
APN |
3 |
104,708,119 (GRCm39) |
nonsense |
probably null |
|
|
IGL03104:Mov10
|
APN |
3 |
104,704,623 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03121:Mov10
|
APN |
3 |
104,708,318 (GRCm39) |
missense |
probably benign |
|
|
P0040:Mov10
|
UTSW |
3 |
104,711,995 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0025:Mov10
|
UTSW |
3 |
104,711,919 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0270:Mov10
|
UTSW |
3 |
104,702,721 (GRCm39) |
missense |
probably benign |
0.09 |
|
R0747:Mov10
|
UTSW |
3 |
104,709,812 (GRCm39) |
missense |
probably benign |
0.41 |
|
R1434:Mov10
|
UTSW |
3 |
104,702,490 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1482:Mov10
|
UTSW |
3 |
104,711,862 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1594:Mov10
|
UTSW |
3 |
104,702,727 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1656:Mov10
|
UTSW |
3 |
104,706,912 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1739:Mov10
|
UTSW |
3 |
104,707,598 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1785:Mov10
|
UTSW |
3 |
104,725,432 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R1786:Mov10
|
UTSW |
3 |
104,725,432 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R1911:Mov10
|
UTSW |
3 |
104,708,876 (GRCm39) |
splice site |
probably benign |
|
|
R1962:Mov10
|
UTSW |
3 |
104,704,293 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1993:Mov10
|
UTSW |
3 |
104,706,735 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2095:Mov10
|
UTSW |
3 |
104,708,847 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2138:Mov10
|
UTSW |
3 |
104,711,558 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3107:Mov10
|
UTSW |
3 |
104,707,040 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4241:Mov10
|
UTSW |
3 |
104,704,592 (GRCm39) |
missense |
probably benign |
0.45 |
|
R4280:Mov10
|
UTSW |
3 |
104,707,095 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4474:Mov10
|
UTSW |
3 |
104,725,781 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5227:Mov10
|
UTSW |
3 |
104,709,894 (GRCm39) |
missense |
probably benign |
|
|
R5391:Mov10
|
UTSW |
3 |
104,709,849 (GRCm39) |
missense |
probably benign |
0.12 |
|
R5704:Mov10
|
UTSW |
3 |
104,706,912 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5819:Mov10
|
UTSW |
3 |
104,708,828 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6059:Mov10
|
UTSW |
3 |
104,725,266 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R6692:Mov10
|
UTSW |
3 |
104,725,360 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7226:Mov10
|
UTSW |
3 |
104,708,328 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7426:Mov10
|
UTSW |
3 |
104,707,368 (GRCm39) |
splice site |
probably null |
|
|
R7633:Mov10
|
UTSW |
3 |
104,704,381 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7637:Mov10
|
UTSW |
3 |
104,703,201 (GRCm39) |
missense |
probably benign |
0.26 |
|
R7869:Mov10
|
UTSW |
3 |
104,711,994 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8684:Mov10
|
UTSW |
3 |
104,711,690 (GRCm39) |
missense |
probably benign |
|
|
R9008:Mov10
|
UTSW |
3 |
104,707,332 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9127:Mov10
|
UTSW |
3 |
104,711,659 (GRCm39) |
nonsense |
probably null |
|
|
R9559:Mov10
|
UTSW |
3 |
104,708,277 (GRCm39) |
missense |
|
|
|
R9587:Mov10
|
UTSW |
3 |
104,711,899 (GRCm39) |
missense |
probably benign |
0.11 |
|
R9602:Mov10
|
UTSW |
3 |
104,708,284 (GRCm39) |
missense |
probably benign |
0.18 |
|
R9606:Mov10
|
UTSW |
3 |
104,707,664 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9708:Mov10
|
UTSW |
3 |
104,704,613 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGATCCATCCAGACACTCTTTGC -3'
(R):5'- CCAGGACTGATGGATGTCAAGG -3'
Sequencing Primer
(F):5'- GCTCTGGTGACCTTCAATATGCAG -3'
(R):5'- TGGTACTGGCAGGAGACC -3'
|
| Posted On |
2016-12-20 |
Incidental Mutation