Incidental Mutation 'R9606:Mov10'
| ID |
723858 |
| 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: 0.317)
|
| Stock # |
R9606 (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 104707664 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 570
(V570D)
|
| 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: V570D
PolyPhen 2
Score 0.096 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000002297
Gene: ENSMUSG00000002227
AA Change: V570D
| 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: V643D
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000102387
Gene: ENSMUSG00000002227
AA Change: V643D
| 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: V643D
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000126897
Gene: ENSMUSG00000002227
AA Change: V643D
| 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: V570D
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000128246
Gene: ENSMUSG00000002227
AA Change: V570D
| 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: 99.7%
- 20x: 99.1%
|
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6430548M08Rik |
A |
G |
8: 120,880,706 (GRCm39) |
Y286C |
probably damaging |
Het |
| Cacna1c |
T |
C |
6: 118,587,455 (GRCm39) |
T1657A |
|
Het |
| Ccs |
A |
T |
19: 4,882,897 (GRCm39) |
D151E |
probably benign |
Het |
| Cfap74 |
A |
G |
4: 155,509,133 (GRCm39) |
T295A |
|
Het |
| Chmp4c |
A |
T |
3: 10,432,222 (GRCm39) |
E44V |
probably damaging |
Het |
| Crybg2 |
A |
T |
4: 133,801,383 (GRCm39) |
K539* |
probably null |
Het |
| Dgkg |
T |
C |
16: 22,441,011 (GRCm39) |
M1V |
probably null |
Het |
| E2f2 |
T |
A |
4: 135,911,743 (GRCm39) |
Y251* |
probably null |
Het |
| Fat2 |
T |
C |
11: 55,180,093 (GRCm39) |
Y1416C |
probably damaging |
Het |
| Fgl2 |
T |
C |
5: 21,577,991 (GRCm39) |
S93P |
possibly damaging |
Het |
| Hivep3 |
C |
T |
4: 119,989,786 (GRCm39) |
T2079I |
probably damaging |
Het |
| Igfl3 |
A |
C |
7: 17,913,920 (GRCm39) |
K90T |
possibly damaging |
Het |
| Lsamp |
A |
G |
16: 41,709,292 (GRCm39) |
D74G |
probably benign |
Het |
| Mmrn2 |
C |
A |
14: 34,119,654 (GRCm39) |
T211K |
possibly damaging |
Het |
| Mrc1 |
A |
T |
2: 14,313,517 (GRCm39) |
Y916F |
probably benign |
Het |
| Myo10 |
CAGGTATAAAG |
CAG |
15: 25,776,401 (GRCm39) |
|
probably null |
Het |
| Ndc1 |
T |
A |
4: 107,246,686 (GRCm39) |
C370S |
probably damaging |
Het |
| Nln |
TGGTCCAGGTAAAACTGCCCCAGCCAATCAGGTACCTTGGATAGAGGTCCAGGTAAAACTGCCCCAGCCAATCAGGTACCTTGGATAGAGGTCCAGGTAGAACTGCCCCAGC |
TGGTCCAGGTAAAACTGCCCCAGCCAATCAGGTACCTTGGATAGAGGTCCAGGTAGAACTGCCCCAGC |
13: 104,186,924 (GRCm39) |
|
probably null |
Het |
| Nrcam |
A |
T |
12: 44,609,240 (GRCm39) |
N455I |
probably damaging |
Het |
| Nrp1 |
G |
A |
8: 129,229,029 (GRCm39) |
E836K |
probably benign |
Het |
| Or2t29 |
C |
T |
11: 58,433,753 (GRCm39) |
C196Y |
probably damaging |
Het |
| Or5b120 |
A |
T |
19: 13,479,943 (GRCm39) |
K79* |
probably null |
Het |
| Or6c216 |
A |
T |
10: 129,678,625 (GRCm39) |
C95* |
probably null |
Het |
| Or8b1d |
A |
G |
9: 38,558,620 (GRCm39) |
S67P |
probably damaging |
Het |
| Pcca |
T |
C |
14: 122,901,717 (GRCm39) |
S287P |
probably damaging |
Het |
| Pitpnm3 |
T |
A |
11: 71,955,069 (GRCm39) |
T482S |
probably benign |
Het |
| Pld2 |
C |
T |
11: 70,445,893 (GRCm39) |
R676* |
probably null |
Het |
| Ppm1k |
T |
C |
6: 57,491,057 (GRCm39) |
Y286C |
possibly damaging |
Het |
| Rb1 |
T |
C |
14: 73,517,573 (GRCm39) |
N278D |
probably damaging |
Het |
| Sema3g |
T |
C |
14: 30,943,783 (GRCm39) |
L221P |
probably damaging |
Het |
| Skint2 |
C |
T |
4: 112,483,147 (GRCm39) |
T184I |
probably benign |
Het |
| Slc38a2 |
A |
G |
15: 96,591,172 (GRCm39) |
F232S |
probably damaging |
Het |
| Snx6 |
T |
C |
12: 54,814,811 (GRCm39) |
N170S |
probably benign |
Het |
| Sox9 |
T |
A |
11: 112,673,416 (GRCm39) |
N2K |
probably damaging |
Het |
| Sp140l1 |
G |
C |
1: 85,075,344 (GRCm39) |
|
probably null |
Het |
| Srpk2 |
T |
C |
5: 23,729,604 (GRCm39) |
E345G |
probably benign |
Het |
| Tbc1d21 |
T |
C |
9: 58,268,487 (GRCm39) |
M291V |
possibly damaging |
Het |
| Tekt2 |
T |
C |
4: 126,218,693 (GRCm39) |
N20S |
probably benign |
Het |
| Tnxb |
T |
G |
17: 34,914,578 (GRCm39) |
I1888S |
possibly damaging |
Het |
| Tsnaxip1 |
G |
A |
8: 106,566,685 (GRCm39) |
E174K |
probably damaging |
Het |
| Ttc28 |
G |
A |
5: 111,433,140 (GRCm39) |
R2058Q |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,715,357 (GRCm39) |
E7912K |
unknown |
Het |
| Ttyh2 |
T |
A |
11: 114,601,667 (GRCm39) |
D430E |
probably benign |
Het |
| Ubr2 |
C |
T |
17: 47,245,020 (GRCm39) |
G1669R |
probably damaging |
Het |
| Vcan |
A |
T |
13: 89,853,491 (GRCm39) |
S490T |
probably damaging |
Het |
| Vmn1r86 |
T |
A |
7: 12,836,741 (GRCm39) |
D45V |
probably damaging |
Het |
| Wdr12 |
A |
G |
1: 60,127,226 (GRCm39) |
V143A |
possibly damaging |
Het |
| Zbtb18 |
T |
A |
1: 177,274,989 (GRCm39) |
Y116* |
probably null |
Het |
| Zdbf2 |
C |
T |
1: 63,342,536 (GRCm39) |
T305I |
possibly damaging |
Het |
| Zfp384 |
T |
A |
6: 125,007,802 (GRCm39) |
M244K |
possibly damaging |
Het |
| Zfp423 |
A |
T |
8: 88,414,595 (GRCm39) |
V1241D |
probably damaging |
Het |
| Zfp574 |
A |
G |
7: 24,780,640 (GRCm39) |
Y554C |
probably damaging |
Het |
| Zfp616 |
T |
C |
11: 73,976,220 (GRCm39) |
S830P |
probably damaging |
Het |
| Zfp839 |
A |
G |
12: 110,834,776 (GRCm39) |
Y677C |
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 |
|
R9602:Mov10
|
UTSW |
3 |
104,708,284 (GRCm39) |
missense |
probably benign |
0.18 |
|
R9708:Mov10
|
UTSW |
3 |
104,704,613 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCCCCTTGGCTATGAACCAC -3'
(R):5'- GACTAGCAGACATCTGGAAGGC -3'
Sequencing Primer
(F):5'- CTCCTTTTGCAGACAAGGAAACTG -3'
(R):5'- AGGCAAACGCAGTCTGAGTCC -3'
|
| Posted On |
2022-09-12 |
Incidental Mutation