Mutagenetix > Incidental Mutation

Incidental Mutation 'P0040:Mov10'

8180

Institutional Source

Beutler Lab

Gene Symbol

Mov10

Ensembl Gene

ENSMUSG00000002227

Gene Name

Mov10 RISC complex RNA helicase

Synonyms

Mov-10

MMRRC Submission

038288-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.317) question?

Stock #

P0040 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

104702152-104725879 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 104711995 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 199 (V199M)

Ref Sequence

ENSEMBL: ENSMUSP00000126897 (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: V126M

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000002297
Gene: ENSMUSG00000002227
AA Change: V126M

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: V199M

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000102387
Gene: ENSMUSG00000002227
AA Change: V199M

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 damaging
Transcript: ENSMUST00000166979
AA Change: V199M

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000126897
Gene: ENSMUSG00000002227
AA Change: V199M

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: V126M

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000128246
Gene: ENSMUSG00000002227
AA Change: V126M

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

Meta Mutation Damage Score

0.0753

Coding Region Coverage

1x: 72.9%
3x: 54.5%
10x: 17.9%
20x: 3.9%

Validation Efficiency

84% (31/37)

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: 10 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arc	A	C	15: 74,543,188 (GRCm39)	L345R	probably damaging	Het
Fat2	A	T	11: 55,173,039 (GRCm39)	M2558K	possibly damaging	Het
Gper1	T	C	5: 139,412,243 (GRCm39)	V196A	probably benign	Het
Hars1	A	T	18: 36,906,628 (GRCm39)	I114N	probably damaging	Het
Mttp	T	G	3: 137,818,327 (GRCm39)	D377A	possibly damaging	Het
Nlgn2	C	T	11: 69,716,556 (GRCm39)	A662T	probably benign	Het
P3h3	A	G	6: 124,830,099 (GRCm39)	I372T	probably damaging	Het
Plxnb2	T	A	15: 89,047,138 (GRCm39)	S753C	probably damaging	Het
Sphk1	C	T	11: 116,425,891 (GRCm39)		probably benign	Het
Xylt2	C	A	11: 94,559,617 (GRCm39)	V342L	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
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

2012-11-20