Incidental Mutation 'R7226:Mov10'
| ID |
562142 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mov10
|
| Ensembl Gene |
ENSMUSG00000002227 |
| Gene Name |
Mov10 RISC complex RNA helicase |
| Synonyms |
Mov-10 |
| MMRRC Submission |
045298-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.344)
|
| Stock # |
R7226 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
104702152-104725879 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 104708328 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Isoleucine
at position 474
(L474I)
|
| 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: L474I
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000002297
Gene: ENSMUSG00000002227
AA Change: L474I
| 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: L547I
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000102387
Gene: ENSMUSG00000002227
AA Change: L547I
| 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: L547I
PolyPhen 2
Score 0.702 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000126897
Gene: ENSMUSG00000002227
AA Change: L547I
| 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: L474I
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000128246
Gene: ENSMUSG00000002227
AA Change: L474I
| 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: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700025B11Rik |
C |
T |
15: 77,443,189 (GRCm39) |
V17I |
unknown |
Het |
| Acad8 |
T |
A |
9: 26,889,726 (GRCm39) |
K323* |
probably null |
Het |
| Adam18 |
A |
T |
8: 25,137,824 (GRCm39) |
C339S |
probably damaging |
Het |
| Anxa7 |
A |
G |
14: 20,510,263 (GRCm39) |
F396L |
probably damaging |
Het |
| Ap2m1 |
T |
A |
16: 20,358,201 (GRCm39) |
V73D |
probably damaging |
Het |
| Asic2 |
A |
T |
11: 80,862,340 (GRCm39) |
I270N |
probably damaging |
Het |
| Atrn |
T |
G |
2: 130,828,664 (GRCm39) |
C1070G |
probably damaging |
Het |
| Bag6 |
A |
G |
17: 35,361,921 (GRCm39) |
N517S |
unknown |
Het |
| Bhmt1b |
A |
G |
18: 87,775,590 (GRCm39) |
D371G |
possibly damaging |
Het |
| Bltp3b |
A |
T |
10: 89,644,503 (GRCm39) |
Q1181L |
probably benign |
Het |
| Cavin1 |
A |
C |
11: 100,861,284 (GRCm39) |
D3E |
probably benign |
Het |
| Cc2d2b |
T |
C |
19: 40,779,751 (GRCm39) |
L571P |
unknown |
Het |
| Ccbe1 |
A |
T |
18: 66,216,199 (GRCm39) |
C175S |
probably damaging |
Het |
| Cd19 |
A |
G |
7: 126,013,995 (GRCm39) |
L5P |
unknown |
Het |
| Cd46 |
A |
G |
1: 194,724,314 (GRCm39) |
S362P |
possibly damaging |
Het |
| Celf5 |
A |
G |
10: 81,303,863 (GRCm39) |
S198P |
probably damaging |
Het |
| Cep170b |
A |
G |
12: 112,704,359 (GRCm39) |
R706G |
possibly damaging |
Het |
| Chd3 |
G |
T |
11: 69,260,037 (GRCm39) |
R61S |
unknown |
Het |
| Cpsf6 |
A |
C |
10: 117,197,727 (GRCm39) |
W253G |
unknown |
Het |
| Cyp27a1 |
G |
A |
1: 74,776,507 (GRCm39) |
G481D |
probably damaging |
Het |
| Ddr1 |
C |
T |
17: 36,002,039 (GRCm39) |
D218N |
possibly damaging |
Het |
| Dhx34 |
A |
T |
7: 15,932,801 (GRCm39) |
V1046D |
probably damaging |
Het |
| Dhx9 |
A |
T |
1: 153,341,423 (GRCm39) |
D608E |
probably benign |
Het |
| Dnajc6 |
C |
A |
4: 101,496,569 (GRCm39) |
A912E |
probably damaging |
Het |
| Ehmt1 |
T |
C |
2: 24,694,794 (GRCm39) |
D1051G |
probably damaging |
Het |
| Fam217b |
C |
A |
2: 178,062,996 (GRCm39) |
A320E |
probably benign |
Het |
| Farsa |
T |
A |
8: 85,590,689 (GRCm39) |
I169N |
probably benign |
Het |
| Fbn2 |
A |
G |
18: 58,170,142 (GRCm39) |
C2210R |
probably damaging |
Het |
| Fbxo3 |
T |
A |
2: 103,880,642 (GRCm39) |
S251T |
probably benign |
Het |
| Fer1l6 |
C |
T |
15: 58,462,384 (GRCm39) |
T813I |
probably benign |
Het |
| Ftl1-ps1 |
A |
T |
13: 74,555,114 (GRCm39) |
E131V |
probably damaging |
Het |
| Gins3 |
T |
A |
8: 96,364,499 (GRCm39) |
I83N |
probably damaging |
Het |
| Gja3 |
T |
C |
14: 57,273,350 (GRCm39) |
T341A |
probably benign |
Het |
| Gja5 |
A |
G |
3: 96,958,174 (GRCm39) |
Y77C |
probably damaging |
Het |
| Gm7247 |
A |
G |
14: 51,602,808 (GRCm39) |
K48R |
probably damaging |
Het |
| Gsx2 |
C |
A |
5: 75,236,621 (GRCm39) |
S67* |
probably null |
Het |
| H2-Q5 |
T |
A |
17: 35,616,089 (GRCm39) |
L217Q |
|
Het |
| Impg2 |
T |
A |
16: 56,087,467 (GRCm39) |
C1095* |
probably null |
Het |
| Itga7 |
G |
T |
10: 128,776,801 (GRCm39) |
W222L |
probably damaging |
Het |
| Kdm2b |
T |
A |
5: 123,059,512 (GRCm39) |
D530V |
possibly damaging |
Het |
| Klhdc8a |
A |
T |
1: 132,230,344 (GRCm39) |
D153V |
probably damaging |
Het |
| Lin28a |
C |
T |
4: 133,733,619 (GRCm39) |
G143S |
probably damaging |
Het |
| Memo1 |
A |
G |
17: 74,509,338 (GRCm39) |
L227S |
probably damaging |
Het |
| Mettl27 |
T |
A |
5: 134,964,657 (GRCm39) |
V138E |
probably damaging |
Het |
| Nat10 |
T |
C |
2: 103,557,098 (GRCm39) |
N852S |
probably benign |
Het |
| Nfkbie |
T |
C |
17: 45,870,153 (GRCm39) |
V166A |
possibly damaging |
Het |
| Nktr |
T |
C |
9: 121,575,599 (GRCm39) |
M369T |
probably damaging |
Het |
| Nlrp9a |
A |
T |
7: 26,258,149 (GRCm39) |
N589I |
probably benign |
Het |
| Nrn1 |
G |
A |
13: 36,914,577 (GRCm39) |
R8C |
probably benign |
Het |
| Nrsn1 |
A |
G |
13: 25,437,451 (GRCm39) |
I159T |
probably damaging |
Het |
| Or1e29 |
A |
G |
11: 73,667,503 (GRCm39) |
S217P |
possibly damaging |
Het |
| Or2h15 |
C |
T |
17: 38,441,324 (GRCm39) |
G253D |
probably benign |
Het |
| Or5p61 |
A |
T |
7: 107,758,164 (GRCm39) |
D305E |
probably benign |
Het |
| Or6c88 |
G |
A |
10: 129,406,584 (GRCm39) |
G20D |
probably benign |
Het |
| Osbp |
T |
A |
19: 11,956,031 (GRCm39) |
D385E |
probably benign |
Het |
| Pan3 |
T |
A |
5: 147,463,802 (GRCm39) |
N547K |
probably damaging |
Het |
| Pip4p2 |
T |
A |
4: 14,892,464 (GRCm39) |
D109E |
probably damaging |
Het |
| Pum1 |
C |
A |
4: 130,499,292 (GRCm39) |
T1036K |
probably damaging |
Het |
| Rad54l2 |
C |
A |
9: 106,590,671 (GRCm39) |
R485L |
probably damaging |
Het |
| Rps26 |
A |
T |
10: 128,461,087 (GRCm39) |
F101I |
unknown |
Het |
| Sdsl |
T |
C |
5: 120,598,702 (GRCm39) |
N138S |
probably benign |
Het |
| Slc28a2b |
C |
A |
2: 122,353,013 (GRCm39) |
R453S |
probably benign |
Het |
| Slc39a6 |
A |
T |
18: 24,717,084 (GRCm39) |
H649Q |
probably damaging |
Het |
| Snip1 |
T |
A |
4: 124,965,273 (GRCm39) |
F226Y |
probably benign |
Het |
| Srrd |
T |
C |
5: 112,485,322 (GRCm39) |
T334A |
unknown |
Het |
| St14 |
C |
T |
9: 31,011,448 (GRCm39) |
D448N |
possibly damaging |
Het |
| Tmem270 |
T |
A |
5: 134,930,538 (GRCm39) |
Q241L |
probably benign |
Het |
| Tubb4b |
T |
C |
2: 25,114,180 (GRCm39) |
D41G |
probably benign |
Het |
| Usf3 |
T |
C |
16: 44,040,368 (GRCm39) |
M1616T |
possibly damaging |
Het |
| Vmn2r95 |
A |
T |
17: 18,672,245 (GRCm39) |
I733F |
possibly damaging |
Het |
| Zfp976 |
A |
T |
7: 42,262,684 (GRCm39) |
C385* |
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 |
|
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 |
|
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'- TGCTCAGGGTTTGACTCCAG -3'
(R):5'- TGGCTTCTTCTCTCGGAGAAC -3'
Sequencing Primer
(F):5'- AGGGTTTGACTCCAGACTCC -3'
(R):5'- CTCTCGGAGAACTTTGTAAGGACC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation