Incidental Mutation 'R2138:Mov10'
| ID |
235936 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mov10
|
| Ensembl Gene |
ENSMUSG00000002227 |
| Gene Name |
Mov10 RISC complex RNA helicase |
| Synonyms |
Mov-10 |
| MMRRC Submission |
040141-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.344)
|
| Stock # |
R2138 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
104702152-104725879 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 104711558 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 316
(H316R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126897
(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: H243R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000002297
Gene: ENSMUSG00000002227
AA Change: H243R
| 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: H316R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000102387
Gene: ENSMUSG00000002227
AA Change: H316R
| 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 |
noncoding transcript
Transcript: ENSMUST00000145414
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166979
AA Change: H316R
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000126897
Gene: ENSMUSG00000002227
AA Change: H316R
| 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: H243R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000128246
Gene: ENSMUSG00000002227
AA Change: H243R
| 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: ENSMUST00000196161
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196211
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.3%
|
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aamp |
A |
G |
1: 74,323,122 (GRCm39) |
V6A |
probably benign |
Het |
| Abcc6 |
A |
G |
7: 45,630,475 (GRCm39) |
F1262L |
probably damaging |
Het |
| Acot13 |
A |
T |
13: 25,002,188 (GRCm39) |
|
probably null |
Het |
| Adgrv1 |
T |
C |
13: 81,593,439 (GRCm39) |
I4183V |
probably benign |
Het |
| Aff4 |
T |
G |
11: 53,263,339 (GRCm39) |
S120A |
possibly damaging |
Het |
| Afp |
A |
G |
5: 90,647,506 (GRCm39) |
E250G |
probably damaging |
Het |
| Ankrd34b |
A |
T |
13: 92,575,914 (GRCm39) |
D382V |
probably damaging |
Het |
| Arhgef19 |
A |
T |
4: 140,978,111 (GRCm39) |
I577F |
probably damaging |
Het |
| Arl6 |
A |
G |
16: 59,442,830 (GRCm39) |
|
probably benign |
Het |
| Atp2b2 |
A |
T |
6: 113,773,268 (GRCm39) |
M333K |
probably benign |
Het |
| Atp8b3 |
C |
A |
10: 80,362,939 (GRCm39) |
A635S |
possibly damaging |
Het |
| Baiap2 |
A |
G |
11: 119,847,928 (GRCm39) |
T19A |
possibly damaging |
Het |
| Bcar3 |
A |
G |
3: 122,306,645 (GRCm39) |
D206G |
probably damaging |
Het |
| Ccdc162 |
A |
T |
10: 41,457,293 (GRCm39) |
M85K |
probably benign |
Het |
| Clec4a4 |
A |
G |
6: 123,000,937 (GRCm39) |
N217D |
probably damaging |
Het |
| Csmd1 |
T |
C |
8: 15,979,088 (GRCm39) |
Y2832C |
probably damaging |
Het |
| Cubn |
A |
G |
2: 13,449,189 (GRCm39) |
I962T |
probably damaging |
Het |
| Dennd4a |
A |
G |
9: 64,796,619 (GRCm39) |
Y852C |
probably damaging |
Het |
| Dhcr24 |
G |
T |
4: 106,429,499 (GRCm39) |
E191* |
probably null |
Het |
| Dusp12 |
G |
A |
1: 170,708,166 (GRCm39) |
Q114* |
probably null |
Het |
| Elfn2 |
G |
T |
15: 78,558,238 (GRCm39) |
T103K |
probably benign |
Het |
| Eme1 |
A |
T |
11: 94,539,018 (GRCm39) |
V314E |
probably damaging |
Het |
| Epb41l3 |
A |
G |
17: 69,514,875 (GRCm39) |
E4G |
probably damaging |
Het |
| Exoc6b |
A |
T |
6: 84,966,464 (GRCm39) |
L170Q |
probably damaging |
Het |
| Fbln5 |
C |
T |
12: 101,728,179 (GRCm39) |
M261I |
probably benign |
Het |
| Fgf22 |
T |
C |
10: 79,592,435 (GRCm39) |
V64A |
probably damaging |
Het |
| Gak |
C |
T |
5: 108,754,743 (GRCm39) |
|
probably null |
Het |
| Gatad2b |
T |
A |
3: 90,259,420 (GRCm39) |
S401R |
probably damaging |
Het |
| Gen1 |
A |
T |
12: 11,291,622 (GRCm39) |
S722R |
probably damaging |
Het |
| Gm10754 |
A |
T |
10: 97,518,132 (GRCm39) |
|
probably benign |
Het |
| Grid2 |
G |
A |
6: 64,322,782 (GRCm39) |
R594Q |
probably damaging |
Het |
| Grm7 |
C |
A |
6: 110,623,098 (GRCm39) |
N90K |
probably damaging |
Het |
| Herc1 |
G |
A |
9: 66,377,589 (GRCm39) |
V3452M |
possibly damaging |
Het |
| Il22ra2 |
T |
A |
10: 19,508,618 (GRCm39) |
F215L |
probably benign |
Het |
| Kank1 |
G |
A |
19: 25,389,117 (GRCm39) |
G930D |
probably benign |
Het |
| Klra3 |
A |
T |
6: 130,310,121 (GRCm39) |
V133D |
probably benign |
Het |
| Lims2 |
A |
G |
18: 32,088,460 (GRCm39) |
E220G |
possibly damaging |
Het |
| Mbd3l2 |
A |
T |
9: 18,356,254 (GRCm39) |
D193V |
probably damaging |
Het |
| Mbl1 |
T |
A |
14: 40,875,648 (GRCm39) |
I34K |
possibly damaging |
Het |
| Mgam |
C |
T |
6: 40,733,384 (GRCm39) |
P839S |
probably damaging |
Het |
| Mmp9 |
G |
T |
2: 164,794,387 (GRCm39) |
E460* |
probably null |
Het |
| Ms4a18 |
A |
T |
19: 10,974,695 (GRCm39) |
V332D |
possibly damaging |
Het |
| Myo15b |
T |
C |
11: 115,774,633 (GRCm39) |
S2082P |
probably benign |
Het |
| Myrfl |
G |
A |
10: 116,631,443 (GRCm39) |
T706I |
probably benign |
Het |
| Nampt |
C |
A |
12: 32,888,421 (GRCm39) |
H191N |
possibly damaging |
Het |
| Niban1 |
G |
A |
1: 151,572,002 (GRCm39) |
V316M |
probably damaging |
Het |
| Nphp3 |
A |
G |
9: 103,903,102 (GRCm39) |
E693G |
possibly damaging |
Het |
| Obscn |
A |
T |
11: 58,894,491 (GRCm39) |
Y1191* |
probably null |
Het |
| Or10z1 |
A |
T |
1: 174,078,302 (GRCm39) |
|
probably null |
Het |
| Or1r1 |
A |
T |
11: 73,875,129 (GRCm39) |
Y102N |
probably damaging |
Het |
| Or7a40 |
A |
G |
16: 16,491,069 (GRCm39) |
Y259H |
probably damaging |
Het |
| Osbpl10 |
A |
G |
9: 115,061,202 (GRCm39) |
N760S |
probably benign |
Het |
| Otof |
A |
G |
5: 30,619,114 (GRCm39) |
V10A |
probably benign |
Het |
| Pkhd1l1 |
A |
C |
15: 44,364,853 (GRCm39) |
E664A |
probably damaging |
Het |
| Pnp2 |
T |
C |
14: 51,201,161 (GRCm39) |
S178P |
probably damaging |
Het |
| Pvr |
G |
A |
7: 19,650,927 (GRCm39) |
T199I |
probably damaging |
Het |
| Rbp3 |
C |
T |
14: 33,677,975 (GRCm39) |
T641M |
probably damaging |
Het |
| Rnaseh2b |
T |
C |
14: 62,598,794 (GRCm39) |
V173A |
probably benign |
Het |
| Septin12 |
C |
T |
16: 4,810,070 (GRCm39) |
R155H |
probably damaging |
Het |
| Slco6d1 |
G |
T |
1: 98,371,385 (GRCm39) |
R290L |
probably benign |
Het |
| Snx32 |
A |
G |
19: 5,546,157 (GRCm39) |
V335A |
probably damaging |
Het |
| Son |
T |
C |
16: 91,456,260 (GRCm39) |
V1669A |
possibly damaging |
Het |
| Speer1f |
A |
T |
5: 11,469,052 (GRCm39) |
R68* |
probably null |
Het |
| Tbata |
C |
T |
10: 61,015,063 (GRCm39) |
T116I |
probably benign |
Het |
| Tdrd1 |
T |
A |
19: 56,831,021 (GRCm39) |
S279T |
probably benign |
Het |
| Thsd7a |
A |
T |
6: 12,471,072 (GRCm39) |
Y515* |
probably null |
Het |
| Tmem102 |
T |
G |
11: 69,695,940 (GRCm39) |
L40F |
probably damaging |
Het |
| Tmem169 |
A |
G |
1: 72,340,155 (GRCm39) |
N195S |
probably damaging |
Het |
| Tmem201 |
A |
T |
4: 149,802,537 (GRCm39) |
S613T |
probably damaging |
Het |
| Tnfaip6 |
A |
T |
2: 51,942,344 (GRCm39) |
I218F |
possibly damaging |
Het |
| Tube1 |
C |
A |
10: 39,023,347 (GRCm39) |
H331Q |
probably benign |
Het |
| Wwc1 |
G |
A |
11: 35,732,714 (GRCm39) |
T998I |
possibly damaging |
Het |
| Xpc |
A |
T |
6: 91,475,104 (GRCm39) |
Y638* |
probably null |
Het |
| Zdhhc4 |
A |
T |
5: 143,310,017 (GRCm39) |
Y80* |
probably null |
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 |
|
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'- ACCTTGCTCCTCTGATATGAAAG -3'
(R):5'- AGGTTGCTCCTTCACTCAGC -3'
Sequencing Primer
(F):5'- GCTCCTCTGATATGAAAGGGATG -3'
(R):5'- CAGCTAACTTTTTCCAGGTGAAAGC -3'
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| Posted On |
2014-10-01 |
Incidental Mutation