Incidental Mutation 'R1434:Mov10'
| ID |
159366 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mov10
|
| Ensembl Gene |
ENSMUSG00000002227 |
| Gene Name |
Mov10 RISC complex RNA helicase |
| Synonyms |
Mov-10 |
| MMRRC Submission |
039489-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.317)
|
| Stock # |
R1434 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
104702152-104725879 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 104702490 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 997
(E997G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128246
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002297]
[ENSMUST00000002303]
[ENSMUST00000106774]
[ENSMUST00000106775]
[ENSMUST00000106787]
[ENSMUST00000166979]
[ENSMUST00000168015]
[ENSMUST00000176347]
[ENSMUST00000196817]
[ENSMUST00000199824]
|
| AlphaFold |
P23249 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000002297
AA Change: E997G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000002297
Gene: ENSMUSG00000002227
AA Change: E997G
| 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 damaging
Transcript: ENSMUST00000106775
AA Change: E1070G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102387
Gene: ENSMUSG00000002227
AA Change: E1070G
| 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: ENSMUST00000106787
|
| SMART Domains |
Protein: ENSMUSP00000102399
Gene: ENSMUSG00000002233
| Domain | Start | End | E-Value | Type |
|---|
|
RHO
|
8 |
181 |
9.45e-130 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132721
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000166979
AA Change: E1070G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000126897
Gene: ENSMUSG00000002227
AA Change: E1070G
| 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 damaging
Transcript: ENSMUST00000168015
AA Change: E997G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000128246
Gene: ENSMUSG00000002227
AA Change: E997G
| 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: ENSMUST00000176347
|
| SMART Domains |
Protein: ENSMUSP00000135659
Gene: ENSMUSG00000002233
| Domain | Start | End | E-Value | Type |
|---|
|
RHO
|
8 |
148 |
7.45e-87 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000196817
|
| SMART Domains |
Protein: ENSMUSP00000142697
Gene: ENSMUSG00000002233
| Domain | Start | End | E-Value | Type |
|---|
|
RHO
|
8 |
181 |
9.45e-130 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199824
|
| SMART Domains |
Protein: ENSMUSP00000142855
Gene: ENSMUSG00000002233
| Domain | Start | End | E-Value | Type |
|---|
|
RHO
|
8 |
118 |
1.4e-68 |
SMART |
|
| Meta Mutation Damage Score |
0.0969 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 90.4%
|
| Validation Efficiency |
99% (73/74) |
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
G |
T |
1: 71,348,959 (GRCm39) |
H851N |
probably benign |
Het |
| Adamtsl4 |
T |
C |
3: 95,588,094 (GRCm39) |
Y631C |
probably damaging |
Het |
| Ankhd1 |
A |
G |
18: 36,758,212 (GRCm39) |
I969V |
probably benign |
Het |
| Apob |
A |
G |
12: 8,059,715 (GRCm39) |
I2699M |
probably damaging |
Het |
| Aqr |
A |
T |
2: 113,980,890 (GRCm39) |
L297Q |
probably damaging |
Het |
| Arb2a |
A |
T |
13: 77,910,041 (GRCm39) |
Y98F |
probably damaging |
Het |
| Camsap1 |
A |
G |
2: 25,835,190 (GRCm39) |
Y301H |
probably damaging |
Het |
| Ccdc88c |
A |
G |
12: 100,905,425 (GRCm39) |
|
probably benign |
Het |
| Cd209b |
T |
A |
8: 3,973,367 (GRCm39) |
I106F |
possibly damaging |
Het |
| Cdkn1b |
T |
A |
6: 134,898,060 (GRCm39) |
W60R |
probably damaging |
Het |
| Coasy |
A |
G |
11: 100,975,822 (GRCm39) |
|
probably benign |
Het |
| Col2a1 |
T |
A |
15: 97,877,532 (GRCm39) |
Q1017L |
probably damaging |
Het |
| Cspg4b |
G |
A |
13: 113,505,026 (GRCm39) |
V510I |
possibly damaging |
Het |
| Ctnnal1 |
T |
A |
4: 56,847,971 (GRCm39) |
N56I |
probably damaging |
Het |
| Cyb561d2 |
T |
A |
9: 107,418,842 (GRCm39) |
|
probably benign |
Het |
| Dcst1 |
G |
T |
3: 89,259,826 (GRCm39) |
T632N |
probably damaging |
Het |
| Ddx1 |
C |
T |
12: 13,287,232 (GRCm39) |
V267I |
probably benign |
Het |
| Dnah10 |
A |
T |
5: 124,852,050 (GRCm39) |
M1736L |
probably benign |
Het |
| Eln |
G |
A |
5: 134,758,291 (GRCm39) |
|
probably benign |
Het |
| Elp1 |
T |
A |
4: 56,781,193 (GRCm39) |
E493D |
probably benign |
Het |
| Enpp2 |
A |
T |
15: 54,726,077 (GRCm39) |
D566E |
probably damaging |
Het |
| Ezh1 |
T |
C |
11: 101,085,743 (GRCm39) |
K638R |
probably damaging |
Het |
| Fdx2 |
C |
A |
9: 20,984,694 (GRCm39) |
G37W |
probably benign |
Het |
| Grin2b |
T |
C |
6: 135,820,193 (GRCm39) |
I340V |
probably benign |
Het |
| Il16 |
T |
C |
7: 83,304,520 (GRCm39) |
T671A |
probably benign |
Het |
| Kcnd2 |
T |
A |
6: 21,216,356 (GRCm39) |
M20K |
probably damaging |
Het |
| Kndc1 |
C |
T |
7: 139,502,600 (GRCm39) |
S962F |
probably damaging |
Het |
| L1td1 |
A |
G |
4: 98,626,054 (GRCm39) |
S750G |
possibly damaging |
Het |
| Lama2 |
A |
G |
10: 27,084,366 (GRCm39) |
C935R |
probably damaging |
Het |
| Lgalsl |
T |
C |
11: 20,776,418 (GRCm39) |
D158G |
possibly damaging |
Het |
| Lman1 |
A |
T |
18: 66,126,144 (GRCm39) |
|
probably null |
Het |
| Lmtk2 |
A |
G |
5: 144,111,407 (GRCm39) |
E709G |
probably damaging |
Het |
| Lrfn3 |
T |
C |
7: 30,055,352 (GRCm39) |
H531R |
possibly damaging |
Het |
| Mark3 |
A |
G |
12: 111,589,759 (GRCm39) |
|
probably benign |
Het |
| Myo15a |
T |
A |
11: 60,395,157 (GRCm39) |
W2484R |
probably benign |
Het |
| Myo1g |
G |
T |
11: 6,459,372 (GRCm39) |
Q833K |
probably benign |
Het |
| Ncoa3 |
T |
A |
2: 165,897,430 (GRCm39) |
D740E |
probably benign |
Het |
| Nol12 |
A |
G |
15: 78,822,153 (GRCm39) |
|
probably benign |
Het |
| Nrxn2 |
T |
A |
19: 6,493,642 (GRCm39) |
|
probably null |
Het |
| Nsfl1c |
A |
C |
2: 151,342,666 (GRCm39) |
I79L |
probably benign |
Het |
| Or52b2 |
T |
C |
7: 104,986,468 (GRCm39) |
I152V |
probably benign |
Het |
| Or5b108 |
A |
G |
19: 13,168,662 (GRCm39) |
I210M |
probably benign |
Het |
| Or5k1 |
G |
T |
16: 58,617,811 (GRCm39) |
H133N |
probably benign |
Het |
| Osbpl8 |
A |
C |
10: 111,127,442 (GRCm39) |
E842A |
probably benign |
Het |
| Pdxk |
G |
T |
10: 78,276,645 (GRCm39) |
T310K |
probably benign |
Het |
| Phip |
T |
G |
9: 82,841,658 (GRCm39) |
K54Q |
probably damaging |
Het |
| Pklr |
A |
T |
3: 89,050,342 (GRCm39) |
D366V |
probably damaging |
Het |
| Plxna2 |
T |
A |
1: 194,433,848 (GRCm39) |
|
probably benign |
Het |
| Ppp4r3a |
A |
T |
12: 101,009,783 (GRCm39) |
V618E |
probably damaging |
Het |
| Prdm12 |
A |
T |
2: 31,530,319 (GRCm39) |
Q70L |
possibly damaging |
Het |
| Ptgr3 |
A |
G |
18: 84,112,596 (GRCm39) |
K91E |
probably benign |
Het |
| Ptpn21 |
A |
T |
12: 98,654,849 (GRCm39) |
M706K |
probably damaging |
Het |
| Ptprq |
A |
T |
10: 107,422,575 (GRCm39) |
F1606I |
probably damaging |
Het |
| Rasgrp4 |
T |
C |
7: 28,837,152 (GRCm39) |
|
probably null |
Het |
| Rlbp1 |
C |
A |
7: 79,029,661 (GRCm39) |
|
probably null |
Het |
| Rtp2 |
T |
C |
16: 23,746,193 (GRCm39) |
D166G |
probably benign |
Het |
| Ryr3 |
A |
C |
2: 112,475,604 (GRCm39) |
F4481V |
probably damaging |
Het |
| Scn2a |
A |
G |
2: 65,532,335 (GRCm39) |
D649G |
possibly damaging |
Het |
| Slc30a5 |
T |
A |
13: 100,939,950 (GRCm39) |
D655V |
probably damaging |
Het |
| Slco5a1 |
G |
A |
1: 12,942,132 (GRCm39) |
A838V |
probably benign |
Het |
| Spata6l |
G |
T |
19: 28,905,039 (GRCm39) |
|
probably benign |
Het |
| Srprb |
A |
G |
9: 103,067,501 (GRCm39) |
V239A |
probably damaging |
Het |
| Tceanc2 |
T |
C |
4: 107,004,837 (GRCm39) |
T104A |
probably benign |
Het |
| Tcp1 |
T |
C |
17: 13,141,493 (GRCm39) |
|
probably null |
Het |
| Unc13b |
C |
T |
4: 43,239,385 (GRCm39) |
R1056* |
probably null |
Het |
| Wdr19 |
G |
A |
5: 65,380,847 (GRCm39) |
|
probably benign |
Het |
| Zfhx4 |
T |
A |
3: 5,306,919 (GRCm39) |
H48Q |
probably benign |
Het |
| Zfp787 |
T |
A |
7: 6,135,234 (GRCm39) |
H339L |
probably damaging |
Het |
| Zfp839 |
G |
T |
12: 110,827,333 (GRCm39) |
R408L |
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 |
|
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 |
|
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'- AGGTCATGTTTGGCAGACTGCCTG -3'
(R):5'- CTCCAAGGTCTGAGCAAACTCAGC -3'
Sequencing Primer
(F):5'- agcactgcaaaggagagg -3'
(R):5'- AGCCCCTCTACCTCAGGTATG -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation