Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01463:Mov10'

88042

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: 0.317) question?

Stock #

IGL01463

Quality Score

Status

Chromosome

Chromosomal Location

104702152-104725879 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 104707640 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 578 (R578H)

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: R578H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000002297
Gene: ENSMUSG00000002227
AA Change: R578H

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: R651H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000102387
Gene: ENSMUSG00000002227
AA Change: R651H

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: R651H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000126897
Gene: ENSMUSG00000002227
AA Change: R651H

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: R578H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000128246
Gene: ENSMUSG00000002227
AA Change: R578H

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

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: 13 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam22	T	C	5: 8,142,790 (GRCm39)	D773G	probably damaging	Het
Clvs1	A	G	4: 9,429,818 (GRCm39)	T274A	probably benign	Het
Cyp2c50	G	T	19: 40,079,422 (GRCm39)	C172F	probably damaging	Het
Fam83h	G	T	15: 75,875,637 (GRCm39)	R567S	possibly damaging	Het
Fastkd1	A	G	2: 69,520,405 (GRCm39)		probably null	Het
Gmds	A	T	13: 32,418,341 (GRCm39)	Y48N	probably damaging	Het
Pcna	A	T	2: 132,093,349 (GRCm39)	Y133N	probably damaging	Het
Rhag	T	C	17: 41,139,646 (GRCm39)	I126T	probably damaging	Het
Sdr16c6	C	T	4: 4,063,238 (GRCm39)	G179D	probably damaging	Het
Sv2b	C	T	7: 74,786,203 (GRCm39)	G406S	probably damaging	Het
Tiparp	G	T	3: 65,460,030 (GRCm39)	G442*	probably null	Het
Vmn2r4	A	T	3: 64,313,816 (GRCm39)	N388K	probably damaging	Het
Vmn2r93	T	A	17: 18,525,150 (GRCm39)	N269K	probably 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
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
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

2013-11-18