Incidental Mutation 'IGL03104:Mov10'
ID |
418888 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Mov10
|
Ensembl Gene |
ENSMUSG00000002227 |
Gene Name |
Mov10 RISC complex RNA helicase |
Synonyms |
Mov-10 |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.344)
|
Stock # |
IGL03104
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
104702152-104725879 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 104704623 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Tryptophan
at position 763
(R763W)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000002297
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002297]
[ENSMUST00000002303]
[ENSMUST00000106774]
[ENSMUST00000106775]
[ENSMUST00000106787]
[ENSMUST00000166979]
[ENSMUST00000168015]
[ENSMUST00000176347]
[ENSMUST00000199824]
[ENSMUST00000196817]
|
AlphaFold |
P23249 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000002297
AA Change: R763W
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000002297 Gene: ENSMUSG00000002227 AA Change: R763W
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: R836W
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000102387 Gene: ENSMUSG00000002227 AA Change: R836W
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: R836W
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000126897 Gene: ENSMUSG00000002227 AA Change: R836W
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: R763W
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000128246 Gene: ENSMUSG00000002227 AA Change: R763W
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: ENSMUST00000199824
|
SMART Domains |
Protein: ENSMUSP00000142855 Gene: ENSMUSG00000002233
Domain | Start | End | E-Value | Type |
RHO
|
8 |
118 |
1.4e-68 |
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 |
|
Coding Region Coverage |
|
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aox1 |
C |
A |
1: 58,321,918 (GRCm39) |
T70K |
probably benign |
Het |
Armt1 |
T |
A |
10: 4,389,615 (GRCm39) |
Y91N |
possibly damaging |
Het |
Atp1a2 |
A |
G |
1: 172,120,934 (GRCm39) |
L46S |
probably damaging |
Het |
Baz1a |
A |
G |
12: 54,941,743 (GRCm39) |
S1488P |
probably damaging |
Het |
Coro7 |
T |
A |
16: 4,446,990 (GRCm39) |
E793V |
probably damaging |
Het |
Ctnnbl1 |
G |
T |
2: 157,732,885 (GRCm39) |
R555L |
probably damaging |
Het |
Dclk2 |
A |
G |
3: 86,743,666 (GRCm39) |
C268R |
probably damaging |
Het |
Dock7 |
A |
T |
4: 98,847,260 (GRCm39) |
M1684K |
possibly damaging |
Het |
Dock8 |
T |
A |
19: 25,178,384 (GRCm39) |
C2092* |
probably null |
Het |
Dtx1 |
T |
A |
5: 120,833,030 (GRCm39) |
Q136L |
possibly damaging |
Het |
Egln3 |
C |
T |
12: 54,249,981 (GRCm39) |
|
probably benign |
Het |
Eml5 |
A |
T |
12: 98,827,504 (GRCm39) |
Y575* |
probably null |
Het |
Entpd5 |
A |
T |
12: 84,431,022 (GRCm39) |
V310E |
probably damaging |
Het |
Fkbp5 |
A |
G |
17: 28,634,946 (GRCm39) |
F188L |
probably damaging |
Het |
Frrs1 |
T |
C |
3: 116,675,431 (GRCm39) |
S120P |
probably benign |
Het |
Gadl1 |
T |
C |
9: 115,903,108 (GRCm39) |
I479T |
possibly damaging |
Het |
Gfra2 |
A |
T |
14: 71,205,725 (GRCm39) |
M106L |
probably benign |
Het |
Gm17455 |
T |
A |
10: 60,239,060 (GRCm39) |
C108* |
probably null |
Het |
Grhpr |
A |
G |
4: 44,983,867 (GRCm39) |
|
probably benign |
Het |
Hsp90ab1 |
G |
A |
17: 45,882,449 (GRCm39) |
R82C |
probably damaging |
Het |
Igsf10 |
T |
C |
3: 59,226,905 (GRCm39) |
Y2256C |
probably damaging |
Het |
Ivd |
A |
T |
2: 118,703,384 (GRCm39) |
I160F |
probably benign |
Het |
Krtap5-5 |
A |
G |
7: 141,783,450 (GRCm39) |
C67R |
unknown |
Het |
Lhx4 |
A |
T |
1: 155,580,967 (GRCm39) |
V186E |
probably damaging |
Het |
Lrrk2 |
T |
C |
15: 91,631,958 (GRCm39) |
I1294T |
possibly damaging |
Het |
Map3k5 |
C |
T |
10: 20,007,801 (GRCm39) |
S1202L |
probably benign |
Het |
Mdfic |
T |
A |
6: 15,770,319 (GRCm39) |
N108K |
probably damaging |
Het |
Mto1 |
T |
C |
9: 78,356,802 (GRCm39) |
S106P |
probably damaging |
Het |
Naca |
C |
T |
10: 127,876,233 (GRCm39) |
|
probably benign |
Het |
Or10j27 |
A |
G |
1: 172,958,526 (GRCm39) |
V86A |
probably benign |
Het |
Or8s10 |
A |
G |
15: 98,336,127 (GRCm39) |
Y259C |
possibly damaging |
Het |
Pan2 |
T |
C |
10: 128,151,532 (GRCm39) |
|
probably benign |
Het |
Pold1 |
T |
C |
7: 44,190,004 (GRCm39) |
Y394C |
probably damaging |
Het |
Sipa1l1 |
T |
A |
12: 82,388,904 (GRCm39) |
S377T |
probably benign |
Het |
Sirpd |
G |
T |
3: 15,397,283 (GRCm39) |
|
probably benign |
Het |
Slc36a3 |
A |
G |
11: 55,015,946 (GRCm39) |
S403P |
probably damaging |
Het |
Slc4a4 |
A |
G |
5: 89,297,231 (GRCm39) |
T480A |
probably damaging |
Het |
Slu7 |
G |
A |
11: 43,332,883 (GRCm39) |
V315I |
probably benign |
Het |
St6galnac3 |
T |
C |
3: 152,911,115 (GRCm39) |
E282G |
probably damaging |
Het |
Tlr12 |
A |
G |
4: 128,509,685 (GRCm39) |
V855A |
probably benign |
Het |
Tut7 |
T |
C |
13: 59,962,717 (GRCm39) |
D350G |
probably benign |
Het |
Vmn1r53 |
T |
A |
6: 90,200,944 (GRCm39) |
K127* |
probably null |
Het |
Vmn1r72 |
T |
G |
7: 11,403,812 (GRCm39) |
H212P |
probably damaging |
Het |
Vmn2r86 |
T |
A |
10: 130,282,501 (GRCm39) |
Q705L |
probably damaging |
Het |
Vps33b |
C |
T |
7: 79,925,831 (GRCm39) |
R93C |
probably damaging |
Het |
Wdr91 |
T |
A |
6: 34,882,491 (GRCm39) |
E219D |
probably benign |
Het |
Zan |
G |
A |
5: 137,461,762 (GRCm39) |
T1139I |
unknown |
Het |
Zc3hav1 |
T |
A |
6: 38,317,278 (GRCm39) |
K107N |
probably damaging |
Het |
Zmym2 |
A |
G |
14: 57,187,784 (GRCm39) |
E1150G |
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 |
|
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 |
R9606:Mov10
|
UTSW |
3 |
104,707,664 (GRCm39) |
missense |
probably benign |
0.00 |
R9708:Mov10
|
UTSW |
3 |
104,704,613 (GRCm39) |
missense |
probably benign |
|
|
Posted On |
2016-08-02 |