Incidental Mutation 'R7633:Mov10'
| ID |
589747 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mov10
|
| Ensembl Gene |
ENSMUSG00000002227 |
| Gene Name |
Mov10 RISC complex RNA helicase |
| Synonyms |
Mov-10 |
| MMRRC Submission |
045721-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.344)
|
| Stock # |
R7633 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
104702152-104725879 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 104704381 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 806
(S806P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128246
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002297]
[ENSMUST00000002303]
[ENSMUST00000106774]
[ENSMUST00000106775]
[ENSMUST00000106787]
[ENSMUST00000166979]
[ENSMUST00000168015]
[ENSMUST00000176347]
[ENSMUST00000196817]
[ENSMUST00000199824]
|
| AlphaFold |
P23249 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000002297
AA Change: S806P
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000002297
Gene: ENSMUSG00000002227
AA Change: S806P
| 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: S879P
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000102387
Gene: ENSMUSG00000002227
AA Change: S879P
| 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 |
probably damaging
Transcript: ENSMUST00000166979
AA Change: S879P
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000126897
Gene: ENSMUSG00000002227
AA Change: S879P
| 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 |
possibly damaging
Transcript: ENSMUST00000168015
AA Change: S806P
PolyPhen 2
Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000128246
Gene: ENSMUSG00000002227
AA Change: S806P
| 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: ENSMUST00000196817
|
| SMART Domains |
Protein: ENSMUSP00000142697
Gene: ENSMUSG00000002233
| Domain | Start | End | E-Value | Type |
|---|
|
RHO
|
8 |
181 |
9.45e-130 |
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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (52/52) |
| 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 |
|---|
| A530084C06Rik |
G |
T |
13: 31,742,978 (GRCm39) |
R92S |
unknown |
Het |
| Acaca |
A |
G |
11: 84,263,465 (GRCm39) |
I2029V |
probably benign |
Het |
| Anks1b |
A |
C |
10: 90,784,446 (GRCm39) |
D1138A |
probably damaging |
Het |
| Atr |
T |
A |
9: 95,829,171 (GRCm39) |
V2508E |
probably damaging |
Het |
| C4b |
C |
T |
17: 34,948,373 (GRCm39) |
|
probably null |
Het |
| Calhm4 |
G |
A |
10: 33,919,904 (GRCm39) |
T121M |
possibly damaging |
Het |
| Cd46 |
A |
T |
1: 194,765,927 (GRCm39) |
M146K |
probably null |
Het |
| Chp1 |
A |
G |
2: 119,391,226 (GRCm39) |
I28V |
probably benign |
Het |
| Chrnb1 |
T |
A |
11: 69,683,699 (GRCm39) |
R216W |
probably damaging |
Het |
| Clmn |
G |
A |
12: 104,748,371 (GRCm39) |
T392M |
probably benign |
Het |
| Cracd |
A |
G |
5: 77,005,367 (GRCm39) |
E576G |
unknown |
Het |
| Dcxr |
A |
C |
11: 120,617,279 (GRCm39) |
L88R |
probably benign |
Het |
| Dedd |
C |
T |
1: 171,166,478 (GRCm39) |
P138L |
probably benign |
Het |
| Degs1 |
A |
G |
1: 182,107,263 (GRCm39) |
S35P |
probably damaging |
Het |
| Ehmt1 |
T |
C |
2: 24,705,792 (GRCm39) |
D851G |
possibly damaging |
Het |
| Fam117b |
A |
G |
1: 60,020,693 (GRCm39) |
D521G |
probably damaging |
Het |
| Gm6882 |
A |
G |
7: 21,161,577 (GRCm39) |
V97A |
probably damaging |
Het |
| Hgs |
A |
T |
11: 120,365,128 (GRCm39) |
Q172L |
probably damaging |
Het |
| Hormad2 |
T |
C |
11: 4,296,662 (GRCm39) |
Q274R |
probably benign |
Het |
| Igkv8-19 |
C |
T |
6: 70,318,383 (GRCm39) |
|
probably benign |
Het |
| Ikbkb |
T |
C |
8: 23,161,757 (GRCm39) |
N377S |
probably benign |
Het |
| Intu |
G |
A |
3: 40,608,683 (GRCm39) |
G232S |
probably damaging |
Het |
| Lypd9 |
C |
A |
11: 58,338,304 (GRCm39) |
M29I |
probably benign |
Het |
| Mrgprb1 |
A |
G |
7: 48,097,331 (GRCm39) |
F194L |
probably benign |
Het |
| Notch3 |
A |
T |
17: 32,377,596 (GRCm39) |
I160K |
probably benign |
Het |
| Nup155 |
C |
G |
15: 8,138,937 (GRCm39) |
S3W |
probably damaging |
Het |
| Or4k41 |
A |
G |
2: 111,279,967 (GRCm39) |
I161V |
probably benign |
Het |
| Or8s5 |
A |
G |
15: 98,237,967 (GRCm39) |
I301T |
probably damaging |
Het |
| Plxdc1 |
A |
T |
11: 97,846,977 (GRCm39) |
F147L |
possibly damaging |
Het |
| Ppfia1 |
T |
C |
7: 144,106,173 (GRCm39) |
D33G |
possibly damaging |
Het |
| Prdm11 |
G |
A |
2: 92,810,999 (GRCm39) |
A200V |
probably damaging |
Het |
| Qrich2 |
A |
T |
11: 116,347,455 (GRCm39) |
I1123K |
unknown |
Het |
| Rgs1 |
A |
G |
1: 144,124,215 (GRCm39) |
|
probably null |
Het |
| Skint7 |
T |
A |
4: 111,841,337 (GRCm39) |
V259E |
probably benign |
Het |
| Slc25a3 |
A |
T |
10: 90,953,904 (GRCm39) |
|
probably null |
Het |
| Slc28a2b |
A |
T |
2: 122,317,161 (GRCm39) |
R7S |
probably null |
Het |
| Slco1a6 |
A |
T |
6: 142,091,481 (GRCm39) |
I73N |
probably damaging |
Het |
| Sltm |
C |
G |
9: 70,493,955 (GRCm39) |
P802R |
possibly damaging |
Het |
| Smc4 |
CTA |
CTATA |
3: 68,925,400 (GRCm39) |
|
probably benign |
Het |
| Spock2 |
G |
A |
10: 59,962,002 (GRCm39) |
D206N |
probably damaging |
Het |
| Stard3nl |
T |
G |
13: 19,552,008 (GRCm39) |
R185S |
probably damaging |
Het |
| Supt16 |
A |
G |
14: 52,434,556 (GRCm39) |
Y18H |
probably benign |
Het |
| Synpo |
G |
A |
18: 60,736,500 (GRCm39) |
T482I |
probably damaging |
Het |
| Tcstv7b |
G |
A |
13: 120,702,376 (GRCm39) |
W57* |
probably null |
Het |
| Tmc6 |
G |
T |
11: 117,660,046 (GRCm39) |
T694K |
probably benign |
Het |
| Trim59 |
T |
A |
3: 68,945,259 (GRCm39) |
H27L |
probably damaging |
Het |
| Trpv2 |
G |
A |
11: 62,481,832 (GRCm39) |
|
probably null |
Het |
| Tyw5 |
A |
T |
1: 57,432,644 (GRCm39) |
D117E |
probably benign |
Het |
| Usp17la |
T |
C |
7: 104,510,354 (GRCm39) |
Y320H |
probably damaging |
Het |
| Usp31 |
T |
C |
7: 121,258,185 (GRCm39) |
D694G |
probably damaging |
Het |
| Vmn1r159 |
T |
A |
7: 22,542,448 (GRCm39) |
T195S |
probably damaging |
Het |
| Vmn2r57 |
C |
T |
7: 41,074,513 (GRCm39) |
V517M |
possibly damaging |
Het |
| Yipf1 |
A |
G |
4: 107,176,193 (GRCm39) |
N29S |
probably benign |
Het |
| Zfp954 |
A |
T |
7: 7,118,823 (GRCm39) |
F240L |
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 |
|
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 |
|
|
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'- ATAGGTGCCCTTCTCTTAGGC -3'
(R):5'- ACAGTCTGGAACCCCTGATTCTC -3'
Sequencing Primer
(F):5'- TTAGGCCATCCCCCTCACAC -3'
(R):5'- GGAACCCCTGATTCTCTAGCTGG -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation