Incidental Mutation 'R3107:Mov10'
ID |
263611 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mov10
|
Ensembl Gene |
ENSMUSG00000002227 |
Gene Name |
Mov10 RISC complex RNA helicase |
Synonyms |
Mov-10 |
MMRRC Submission |
040581-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.317)
|
Stock # |
R3107 (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 104707040 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 653
(E653G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000128246
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002297]
[ENSMUST00000106774]
[ENSMUST00000106775]
[ENSMUST00000136148]
[ENSMUST00000166979]
[ENSMUST00000168015]
|
AlphaFold |
P23249 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000002297
AA Change: E653G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000002297 Gene: ENSMUSG00000002227 AA Change: E653G
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 damaging
Transcript: ENSMUST00000106775
AA Change: E726G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000102387 Gene: ENSMUSG00000002227 AA Change: E726G
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 damaging
Transcript: ENSMUST00000166979
AA Change: E726G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000126897 Gene: ENSMUSG00000002227 AA Change: E726G
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: E653G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000128246 Gene: ENSMUSG00000002227 AA Change: E653G
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
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.3%
|
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrf4 |
A |
T |
17: 42,977,758 (GRCm39) |
Y528* |
probably null |
Het |
Ankrd26 |
A |
T |
6: 118,533,204 (GRCm39) |
F198L |
probably benign |
Het |
Arnt2 |
A |
G |
7: 83,911,652 (GRCm39) |
S607P |
possibly damaging |
Het |
Brd10 |
A |
T |
19: 29,700,847 (GRCm39) |
L814H |
probably damaging |
Het |
Ccdc17 |
T |
C |
4: 116,455,464 (GRCm39) |
V269A |
probably benign |
Het |
Cers1 |
T |
A |
8: 70,775,286 (GRCm39) |
H233Q |
probably benign |
Het |
Cfap54 |
T |
C |
10: 92,830,545 (GRCm39) |
N1197S |
probably benign |
Het |
Cfb |
A |
G |
17: 35,080,800 (GRCm39) |
Y66H |
possibly damaging |
Het |
Clspn |
A |
G |
4: 126,485,452 (GRCm39) |
D1247G |
probably benign |
Het |
Cnnm1 |
T |
C |
19: 43,430,000 (GRCm39) |
C373R |
probably damaging |
Het |
Col19a1 |
T |
C |
1: 24,377,017 (GRCm39) |
T443A |
possibly damaging |
Het |
Cubn |
T |
C |
2: 13,367,158 (GRCm39) |
S1571G |
possibly damaging |
Het |
Ddt |
C |
T |
10: 75,608,597 (GRCm39) |
E42K |
probably benign |
Het |
Dmrt2 |
C |
A |
19: 25,655,055 (GRCm39) |
T218N |
probably benign |
Het |
Dnah7b |
G |
A |
1: 46,392,033 (GRCm39) |
G3798E |
probably benign |
Het |
Espl1 |
A |
G |
15: 102,221,424 (GRCm39) |
I944V |
probably damaging |
Het |
Fam114a2 |
C |
A |
11: 57,390,561 (GRCm39) |
K317N |
probably benign |
Het |
Fyn |
G |
C |
10: 39,427,451 (GRCm39) |
D445H |
probably damaging |
Het |
Gprasp1 |
A |
T |
X: 134,700,508 (GRCm39) |
M234L |
probably benign |
Het |
Ibtk |
T |
C |
9: 85,592,467 (GRCm39) |
Y997C |
probably damaging |
Het |
Il12rb2 |
A |
G |
6: 67,337,782 (GRCm39) |
V33A |
probably damaging |
Het |
Ints6 |
T |
C |
14: 62,998,041 (GRCm39) |
T23A |
possibly damaging |
Het |
Itk |
C |
A |
11: 46,218,291 (GRCm39) |
G624V |
probably benign |
Het |
Lama2 |
C |
T |
10: 26,877,231 (GRCm39) |
E2652K |
probably benign |
Het |
Mab21l3 |
T |
A |
3: 101,734,112 (GRCm39) |
I109F |
probably damaging |
Het |
Or8b51 |
C |
T |
9: 38,569,307 (GRCm39) |
C127Y |
possibly damaging |
Het |
Plg |
T |
C |
17: 12,603,316 (GRCm39) |
V74A |
probably benign |
Het |
Ptprn2 |
A |
G |
12: 116,839,800 (GRCm39) |
D441G |
probably benign |
Het |
Rbmxl2 |
G |
A |
7: 106,809,624 (GRCm39) |
G303E |
probably damaging |
Het |
Satb1 |
A |
T |
17: 52,089,810 (GRCm39) |
Y346N |
possibly damaging |
Het |
Serpina1a |
A |
T |
12: 103,820,100 (GRCm39) |
I382N |
probably damaging |
Het |
Slc6a2 |
C |
A |
8: 93,687,906 (GRCm39) |
Q11K |
probably benign |
Het |
Slc6a20a |
A |
C |
9: 123,470,773 (GRCm39) |
|
probably null |
Het |
Sorcs1 |
T |
C |
19: 50,199,088 (GRCm39) |
E825G |
possibly damaging |
Het |
Sval1 |
C |
G |
6: 41,932,876 (GRCm39) |
P145A |
probably damaging |
Het |
Trhde |
C |
T |
10: 114,427,971 (GRCm39) |
E442K |
probably damaging |
Het |
Vmn2r61 |
A |
T |
7: 41,916,491 (GRCm39) |
D368V |
possibly 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 |
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'- AGTCCATGCTTCAGGGCTAG -3'
(R):5'- CTGCCAGCAGGTACATATAGG -3'
Sequencing Primer
(F):5'- CTTCAGGGCTAGTGGCGAG -3'
(R):5'- CCAGCAGGTACATATAGGGTTTG -3'
|
Posted On |
2015-02-05 |