Incidental Mutation 'R9587:Mov10'
| ID |
722822 |
| 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 # |
R9587 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
104702152-104725879 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 104711899 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Serine
at position 158
(G158S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128246
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002297]
[ENSMUST00000106774]
[ENSMUST00000106775]
[ENSMUST00000136148]
[ENSMUST00000166979]
[ENSMUST00000168015]
|
| AlphaFold |
P23249 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000002297
AA Change: G158S
PolyPhen 2
Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000002297
Gene: ENSMUSG00000002227
AA Change: G158S
| 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: G231S
PolyPhen 2
Score 0.110 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000102387
Gene: ENSMUSG00000002227
AA Change: G231S
| 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 |
possibly damaging
Transcript: ENSMUST00000166979
AA Change: G231S
PolyPhen 2
Score 0.804 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000126897
Gene: ENSMUSG00000002227
AA Change: G231S
| 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: G158S
PolyPhen 2
Score 0.110 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000128246
Gene: ENSMUSG00000002227
AA Change: G158S
| 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: 99.0%
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap9 |
T |
A |
5: 4,119,149 (GRCm39) |
L3552Q |
probably damaging |
Het |
| Atat1 |
T |
C |
17: 36,209,182 (GRCm39) |
E353G |
probably benign |
Het |
| Banf2 |
A |
G |
2: 143,907,452 (GRCm39) |
K42R |
probably damaging |
Het |
| Cabp7 |
T |
A |
11: 4,688,865 (GRCm39) |
M202L |
probably damaging |
Het |
| Cage1 |
T |
C |
13: 38,207,233 (GRCm39) |
E204G |
probably damaging |
Het |
| Caprin2 |
A |
G |
6: 148,770,500 (GRCm39) |
V498A |
probably benign |
Het |
| Cfap161 |
A |
G |
7: 83,440,878 (GRCm39) |
F150L |
probably damaging |
Het |
| Cyb5r1 |
G |
A |
1: 134,335,387 (GRCm39) |
G141R |
probably damaging |
Het |
| Dnah8 |
CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT |
CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT |
17: 30,979,841 (GRCm39) |
|
probably null |
Het |
| Dnah9 |
T |
C |
11: 65,999,217 (GRCm39) |
Q974R |
probably null |
Het |
| Eps8l3 |
G |
A |
3: 107,798,683 (GRCm39) |
R523Q |
probably benign |
Het |
| Ext1 |
T |
C |
15: 52,955,808 (GRCm39) |
I430V |
possibly damaging |
Het |
| Gga3 |
T |
C |
11: 115,481,717 (GRCm39) |
K202R |
probably damaging |
Het |
| Gm11567 |
T |
C |
11: 99,770,136 (GRCm39) |
W25R |
unknown |
Het |
| Gpr3 |
G |
A |
4: 132,937,988 (GRCm39) |
A228V |
probably damaging |
Het |
| Krt10 |
T |
C |
11: 99,277,420 (GRCm39) |
D426G |
possibly damaging |
Het |
| Krt24 |
T |
A |
11: 99,174,453 (GRCm39) |
I205F |
probably damaging |
Het |
| Krt33a |
T |
C |
11: 99,906,733 (GRCm39) |
N81D |
probably damaging |
Het |
| Mapkbp1 |
T |
C |
2: 119,847,277 (GRCm39) |
S505P |
possibly damaging |
Het |
| Matr3 |
A |
G |
18: 35,717,876 (GRCm39) |
D696G |
probably null |
Het |
| Myh1 |
T |
A |
11: 67,102,196 (GRCm39) |
M829K |
probably benign |
Het |
| Ncam2 |
T |
C |
16: 81,262,501 (GRCm39) |
V318A |
probably benign |
Het |
| Ndufv3 |
A |
G |
17: 31,747,106 (GRCm39) |
E332G |
probably benign |
Het |
| Ngdn |
C |
T |
14: 55,254,578 (GRCm39) |
T43M |
probably benign |
Het |
| Nop2 |
T |
A |
6: 125,117,785 (GRCm39) |
D445E |
probably damaging |
Het |
| Or2y17 |
C |
T |
11: 49,232,007 (GRCm39) |
S216F |
probably benign |
Het |
| Or3a10 |
G |
A |
11: 73,935,360 (GRCm39) |
H247Y |
probably damaging |
Het |
| Or5w17 |
A |
T |
2: 87,584,184 (GRCm39) |
M51K |
possibly damaging |
Het |
| Or8u8 |
A |
T |
2: 86,011,564 (GRCm39) |
V297E |
probably damaging |
Het |
| Prl2b1 |
G |
A |
13: 27,567,601 (GRCm39) |
A181V |
probably benign |
Het |
| Ptprg |
T |
A |
14: 12,215,992 (GRCm38) |
L1147Q |
probably damaging |
Het |
| Rubcn |
T |
C |
16: 32,663,679 (GRCm39) |
D319G |
probably damaging |
Het |
| Sfswap |
G |
A |
5: 129,618,427 (GRCm39) |
D454N |
probably benign |
Het |
| Slc38a6 |
G |
T |
12: 73,388,513 (GRCm39) |
K242N |
probably benign |
Het |
| Tmigd3 |
A |
G |
3: 105,824,088 (GRCm39) |
D19G |
probably damaging |
Het |
| Trim36 |
T |
C |
18: 46,308,722 (GRCm39) |
E380G |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,624,976 (GRCm39) |
I15201F |
probably damaging |
Het |
| Vmn2r12 |
A |
G |
5: 109,239,322 (GRCm39) |
S414P |
probably damaging |
Het |
| Vmn2r82 |
A |
T |
10: 79,214,936 (GRCm39) |
K306N |
possibly damaging |
Het |
| Wdfy4 |
A |
T |
14: 32,769,230 (GRCm39) |
Y2232* |
probably null |
Het |
| Wdr53 |
A |
G |
16: 32,075,830 (GRCm39) |
D345G |
probably damaging |
Het |
| Zfp26 |
G |
A |
9: 20,348,213 (GRCm39) |
R784C |
probably damaging |
Het |
| Zfp58 |
A |
T |
13: 67,639,823 (GRCm39) |
C223S |
probably damaging |
Het |
| Zfp618 |
A |
G |
4: 63,051,916 (GRCm39) |
H899R |
|
Het |
| Zfp963 |
A |
G |
8: 70,195,692 (GRCm39) |
Y254H |
probably benign |
Het |
| Zfp994 |
T |
C |
17: 22,421,764 (GRCm39) |
D17G |
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 |
|
|
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 |
|
|
|
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'- GTGGAGTTCATAGCTTTCACCTG -3'
(R):5'- TCAGGGCAATTTCAGTCCAAGG -3'
Sequencing Primer
(F):5'- GCTTTCACCTGGAAAAAGTTAGCTG -3'
(R):5'- GGCAATTTCAGTCCAAGGTTCCC -3'
|
| Posted On |
2022-08-09 |
Incidental Mutation