Incidental Mutation 'R6059:Mov10'
| ID |
502000 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mov10
|
| Ensembl Gene |
ENSMUSG00000002227 |
| Gene Name |
Mov10 RISC complex RNA helicase |
| Synonyms |
Mov-10 |
| MMRRC Submission |
044225-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.344)
|
| Stock # |
R6059 (G1)
|
| Quality Score |
74.0075 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
104702152-104725879 bp(-) (GRCm39) |
| Type of Mutation |
utr 3 prime |
| DNA Base Change (assembly) |
G to A
at 104725266 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102386
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002297]
[ENSMUST00000094028]
[ENSMUST00000106774]
[ENSMUST00000106775]
[ENSMUST00000136148]
[ENSMUST00000166979]
[ENSMUST00000168015]
|
| AlphaFold |
P23249 |
| Predicted Effect |
silent
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: ENSMUST00000094028
|
| SMART Domains |
Protein: ENSMUSP00000102381
Gene: ENSMUSG00000070372
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:F-actin_cap_A
|
14 |
282 |
3.1e-109 |
PFAM |
|
| 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 |
silent
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 |
unknown
Transcript: ENSMUST00000136148
AA Change: T126M
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145414
|
| Predicted Effect |
silent
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 |
silent
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 |
noncoding transcript
Transcript: ENSMUST00000196211
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196161
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.3%
|
| Validation Efficiency |
95% (54/57) |
| 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 |
|---|
| 1700067P10Rik |
C |
A |
17: 48,400,847 (GRCm39) |
T44K |
probably benign |
Het |
| Ablim2 |
A |
G |
5: 36,014,508 (GRCm39) |
D189G |
probably benign |
Het |
| Abo |
A |
G |
2: 26,733,365 (GRCm39) |
V278A |
possibly damaging |
Het |
| Anxa1 |
A |
G |
19: 20,355,064 (GRCm39) |
F237L |
possibly damaging |
Het |
| Atp11b |
A |
G |
3: 35,868,326 (GRCm39) |
Y466C |
possibly damaging |
Het |
| Cfh |
T |
A |
1: 140,046,428 (GRCm39) |
K531N |
possibly damaging |
Het |
| Cgref1 |
G |
T |
5: 31,102,728 (GRCm39) |
P31Q |
probably damaging |
Het |
| Clca3a2 |
G |
A |
3: 144,516,531 (GRCm39) |
A355V |
probably damaging |
Het |
| Cntnap5c |
T |
A |
17: 58,620,707 (GRCm39) |
C929S |
probably damaging |
Het |
| Col6a6 |
A |
T |
9: 105,661,116 (GRCm39) |
V331D |
probably damaging |
Het |
| Cyp4a12b |
T |
A |
4: 115,295,301 (GRCm39) |
V469E |
possibly damaging |
Het |
| Dchs2 |
A |
G |
3: 83,263,043 (GRCm39) |
S3104G |
probably benign |
Het |
| Ddx24 |
G |
T |
12: 103,374,559 (GRCm39) |
A875E |
probably damaging |
Het |
| Dsc1 |
A |
T |
18: 20,243,299 (GRCm39) |
N51K |
probably damaging |
Het |
| Efcab3 |
T |
C |
11: 104,927,595 (GRCm39) |
I4788T |
probably benign |
Het |
| Epb41l3 |
C |
T |
17: 69,593,793 (GRCm39) |
T537I |
probably damaging |
Het |
| Epb41l3 |
A |
G |
17: 69,591,637 (GRCm39) |
E708G |
probably damaging |
Het |
| Fam162b |
A |
T |
10: 51,466,403 (GRCm39) |
C39S |
probably benign |
Het |
| Garre1 |
G |
A |
7: 33,944,888 (GRCm39) |
A452V |
possibly damaging |
Het |
| Gbf1 |
T |
C |
19: 46,253,687 (GRCm39) |
I531T |
probably damaging |
Het |
| Glipr1l2 |
T |
C |
10: 111,919,423 (GRCm39) |
V48A |
probably benign |
Het |
| Gorasp1 |
A |
G |
9: 119,759,072 (GRCm39) |
V177A |
probably damaging |
Het |
| Gys1 |
A |
G |
7: 45,104,712 (GRCm39) |
|
probably null |
Het |
| Hif1a |
T |
A |
12: 73,988,574 (GRCm39) |
V523E |
probably damaging |
Het |
| Hnrnph3 |
A |
T |
10: 62,854,641 (GRCm39) |
|
probably benign |
Het |
| Lcn9 |
C |
A |
2: 25,714,737 (GRCm39) |
L159I |
possibly damaging |
Het |
| Luzp1 |
C |
T |
4: 136,268,791 (GRCm39) |
A338V |
probably benign |
Het |
| Map3k10 |
A |
T |
7: 27,356,247 (GRCm39) |
S891T |
probably damaging |
Het |
| Mmrn2 |
C |
T |
14: 34,119,548 (GRCm39) |
Q97* |
probably null |
Het |
| Ncam1 |
A |
C |
9: 49,455,966 (GRCm39) |
Y551D |
probably damaging |
Het |
| Ncf1 |
A |
T |
5: 134,252,341 (GRCm39) |
Y237N |
probably damaging |
Het |
| Nipbl |
A |
T |
15: 8,325,052 (GRCm39) |
I2537N |
probably damaging |
Het |
| Nlrp1b |
A |
T |
11: 71,107,836 (GRCm39) |
V555E |
possibly damaging |
Het |
| Nod2 |
T |
C |
8: 89,391,042 (GRCm39) |
Y428H |
probably damaging |
Het |
| Nup133 |
C |
A |
8: 124,641,335 (GRCm39) |
A862S |
probably damaging |
Het |
| Pcdhgb2 |
T |
A |
18: 37,823,078 (GRCm39) |
L23* |
probably null |
Het |
| Pclo |
A |
G |
5: 14,861,714 (GRCm39) |
E4889G |
unknown |
Het |
| Plcd3 |
T |
A |
11: 102,971,227 (GRCm39) |
I110F |
possibly damaging |
Het |
| Plxna2 |
C |
A |
1: 194,493,279 (GRCm39) |
N1851K |
possibly damaging |
Het |
| Ppp2r5c |
C |
A |
12: 110,541,222 (GRCm39) |
A457E |
probably benign |
Het |
| Ppp5c |
C |
T |
7: 16,761,832 (GRCm39) |
|
probably benign |
Het |
| Pramel25 |
T |
G |
4: 143,520,550 (GRCm39) |
S101A |
possibly damaging |
Het |
| Prg4 |
T |
A |
1: 150,325,748 (GRCm39) |
Y1009F |
possibly damaging |
Het |
| Rcor3 |
A |
T |
1: 191,804,240 (GRCm39) |
M303K |
probably benign |
Het |
| Rrn3 |
G |
A |
16: 13,624,468 (GRCm39) |
M433I |
probably benign |
Het |
| Serpinb9e |
G |
A |
13: 33,441,757 (GRCm39) |
V230M |
probably benign |
Het |
| Shisa6 |
T |
A |
11: 66,115,800 (GRCm39) |
H279L |
probably damaging |
Het |
| Slc38a11 |
A |
T |
2: 65,165,089 (GRCm39) |
I234N |
probably damaging |
Het |
| Socs1 |
G |
C |
16: 10,602,394 (GRCm39) |
F114L |
probably damaging |
Het |
| Ssc5d |
C |
T |
7: 4,945,743 (GRCm39) |
T925M |
possibly damaging |
Het |
| Stc1 |
T |
C |
14: 69,269,887 (GRCm39) |
S156P |
probably damaging |
Het |
| Ttc5 |
C |
G |
14: 51,015,303 (GRCm39) |
V103L |
probably damaging |
Het |
| Vmn1r73 |
A |
G |
7: 11,490,538 (GRCm39) |
T119A |
probably benign |
Het |
| Vmn2r99 |
G |
A |
17: 19,599,242 (GRCm39) |
D309N |
probably benign |
Het |
| Vps53 |
T |
C |
11: 75,957,693 (GRCm39) |
H353R |
possibly damaging |
Het |
| Ythdf3 |
T |
A |
3: 16,257,356 (GRCm39) |
Y47* |
probably null |
Het |
| Zfp276 |
T |
C |
8: 123,994,562 (GRCm39) |
M543T |
probably 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 |
|
R5842:Mov10
|
UTSW |
3 |
104,706,695 (GRCm39) |
splice site |
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'- GGCAGTCCTCCCTTAACAAG -3'
(R):5'- AGTTTCATTTCCGCGGACCC -3'
Sequencing Primer
(F):5'- CCTTAACAAGGGGGCGG -3'
(R):5'- ATTTCCGCGGACCCTCCTG -3'
|
| Posted On |
2018-02-15 |
Incidental Mutation