Incidental Mutation 'R9602:Mov10'
| ID |
723717 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mov10
|
| Ensembl Gene |
ENSMUSG00000002227 |
| Gene Name |
Mov10 RISC complex RNA helicase |
| Synonyms |
Mov-10 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.344)
|
| Stock # |
R9602 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
104702152-104725879 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 104708284 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 488
(D488E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128246
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002297]
[ENSMUST00000106774]
[ENSMUST00000106775]
[ENSMUST00000136148]
[ENSMUST00000166979]
[ENSMUST00000168015]
|
| AlphaFold |
P23249 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000002297
AA Change: D488E
PolyPhen 2
Score 0.172 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000002297
Gene: ENSMUSG00000002227
AA Change: D488E
| 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: 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
AA Change: D561E
PolyPhen 2
Score 0.394 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000102387
Gene: ENSMUSG00000002227
AA Change: D561E
| 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: ENSMUST00000136148
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166979
AA Change: D561E
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000126897
Gene: ENSMUSG00000002227
AA Change: D561E
| 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
AA Change: D488E
PolyPhen 2
Score 0.176 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000128246
Gene: ENSMUSG00000002227
AA Change: D488E
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930563M21Rik |
G |
A |
9: 55,910,261 (GRCm39) |
S125L |
possibly damaging |
Het |
| Abca3 |
T |
C |
17: 24,617,378 (GRCm39) |
V1025A |
probably benign |
Het |
| Adam5 |
T |
C |
8: 25,303,402 (GRCm39) |
K175R |
probably damaging |
Het |
| Arhgap39 |
A |
C |
15: 76,610,954 (GRCm39) |
S885R |
probably damaging |
Het |
| Arhgef12 |
A |
G |
9: 42,895,676 (GRCm39) |
Y951H |
probably damaging |
Het |
| Bbs1 |
G |
A |
19: 4,941,083 (GRCm39) |
L544F |
probably damaging |
Het |
| Bcar1 |
C |
T |
8: 112,440,498 (GRCm39) |
E499K |
probably benign |
Het |
| Brinp3 |
C |
T |
1: 146,622,234 (GRCm39) |
T212I |
probably damaging |
Het |
| Cdh20 |
A |
T |
1: 104,868,823 (GRCm39) |
I105F |
probably benign |
Het |
| Cenpp |
T |
C |
13: 49,801,049 (GRCm39) |
E123G |
probably damaging |
Het |
| Col14a1 |
C |
A |
15: 55,351,345 (GRCm39) |
D1557E |
unknown |
Het |
| Col6a3 |
A |
T |
1: 90,731,497 (GRCm39) |
N1585K |
probably benign |
Het |
| Cox6a1 |
G |
A |
5: 115,486,934 (GRCm39) |
P26S |
unknown |
Het |
| Epb41l1 |
G |
T |
2: 156,367,068 (GRCm39) |
D646Y |
probably damaging |
Het |
| Fbxw10 |
G |
T |
11: 62,750,782 (GRCm39) |
R455L |
possibly damaging |
Het |
| Fmnl2 |
T |
C |
2: 53,013,587 (GRCm39) |
|
probably null |
Het |
| Gata3 |
T |
A |
2: 9,863,297 (GRCm39) |
I406F |
possibly damaging |
Het |
| Gm14406 |
C |
T |
2: 177,261,028 (GRCm39) |
G417D |
probably damaging |
Het |
| Gpr31b |
C |
T |
17: 13,270,771 (GRCm39) |
G133S |
possibly damaging |
Het |
| Gtf2h1 |
T |
A |
7: 46,456,219 (GRCm39) |
D196E |
possibly damaging |
Het |
| Hcn2 |
A |
G |
10: 79,562,128 (GRCm39) |
I375V |
probably benign |
Het |
| Kctd20 |
T |
C |
17: 29,180,442 (GRCm39) |
M72T |
probably benign |
Het |
| Klhl2 |
A |
T |
8: 65,205,696 (GRCm39) |
F408L |
probably damaging |
Het |
| Mllt10 |
T |
C |
2: 18,211,850 (GRCm39) |
V921A |
probably damaging |
Het |
| Mn1 |
A |
T |
5: 111,565,449 (GRCm39) |
|
probably benign |
Het |
| Muc5b |
G |
T |
7: 141,417,211 (GRCm39) |
D3386Y |
probably benign |
Het |
| Myo15b |
G |
A |
11: 115,769,269 (GRCm39) |
|
probably null |
Het |
| Nudt7 |
T |
C |
8: 114,878,499 (GRCm39) |
F176L |
probably damaging |
Het |
| Obscn |
A |
G |
11: 58,981,385 (GRCm39) |
Y1878H |
probably damaging |
Het |
| Or6c5b |
A |
T |
10: 129,245,802 (GRCm39) |
D189V |
probably damaging |
Het |
| Pabpn1l |
T |
A |
8: 123,347,101 (GRCm39) |
T250S |
probably benign |
Het |
| Prr11 |
C |
T |
11: 86,987,998 (GRCm39) |
D302N |
possibly damaging |
Het |
| Prx |
T |
A |
7: 27,218,445 (GRCm39) |
V1121D |
possibly damaging |
Het |
| Ptcd1 |
A |
G |
5: 145,096,448 (GRCm39) |
V215A |
probably benign |
Het |
| Rasa3 |
T |
C |
8: 13,681,844 (GRCm39) |
D35G |
probably benign |
Het |
| Rbm5 |
A |
G |
9: 107,629,152 (GRCm39) |
S348P |
probably benign |
Het |
| Rmdn2 |
G |
A |
17: 79,975,440 (GRCm39) |
G310R |
probably damaging |
Het |
| Rnf114 |
T |
A |
2: 167,353,162 (GRCm39) |
C144* |
probably null |
Het |
| Rreb1 |
T |
C |
13: 38,114,477 (GRCm39) |
I612T |
probably damaging |
Het |
| Sdk1 |
A |
T |
5: 142,071,353 (GRCm39) |
D1181V |
probably damaging |
Het |
| Secisbp2l |
A |
T |
2: 125,609,356 (GRCm39) |
M324K |
probably benign |
Het |
| Slc14a1 |
C |
A |
18: 78,152,807 (GRCm39) |
A367S |
probably damaging |
Het |
| Slc22a6 |
G |
T |
19: 8,598,560 (GRCm39) |
E206* |
probably null |
Het |
| Smg5 |
T |
C |
3: 88,250,214 (GRCm39) |
C109R |
probably damaging |
Het |
| Socs7 |
A |
G |
11: 97,267,837 (GRCm39) |
T323A |
probably benign |
Het |
| Spen |
T |
C |
4: 141,205,183 (GRCm39) |
N1148S |
unknown |
Het |
| Tek |
C |
G |
4: 94,715,968 (GRCm39) |
I463M |
possibly damaging |
Het |
| Ttn |
C |
T |
2: 76,715,357 (GRCm39) |
E7912K |
unknown |
Het |
| Ugt2b34 |
T |
C |
5: 87,054,163 (GRCm39) |
D206G |
probably damaging |
Het |
| Upk3a |
C |
T |
15: 84,905,464 (GRCm39) |
P191L |
probably benign |
Het |
| Vmn2r101 |
T |
A |
17: 19,831,780 (GRCm39) |
L592* |
probably null |
Het |
| Vmn2r82 |
A |
G |
10: 79,214,880 (GRCm39) |
I288V |
probably benign |
Het |
| Vmn2r88 |
T |
A |
14: 51,651,189 (GRCm39) |
S168T |
|
Het |
| Wnt5a |
C |
A |
14: 28,240,295 (GRCm39) |
N148K |
probably benign |
Het |
| Yipf5 |
T |
C |
18: 40,345,134 (GRCm39) |
Y82C |
probably damaging |
Het |
| Zfp655 |
T |
A |
5: 145,181,473 (GRCm39) |
C444S |
probably benign |
Het |
| Zpr1 |
A |
G |
9: 46,184,663 (GRCm39) |
N57D |
probably benign |
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 |
|
R5842:Mov10
|
UTSW |
3 |
104,706,695 (GRCm39) |
splice site |
probably benign |
|
|
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 |
|
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'- TGTGACAGTCTTGCCGGTAC -3'
(R):5'- AAGCCTCCTGAGCCGATTTG -3'
Sequencing Primer
(F):5'- CAATGTGCTTCATGGCCTGCAG -3'
(R):5'- GTGGATGGGCTGACCTTCAAG -3'
|
| Posted On |
2022-09-12 |
Incidental Mutation