Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00955:Mov10l1'

29085

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mov10l1

Ensembl Gene

ENSMUSG00000015365

Gene Name

Moloney leukemia virus 10-like 1

Synonyms

Csm, CHAMP

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.292) question?

Stock #

IGL00955

Quality Score

Status

Chromosome

Chromosomal Location

88982909-89055152 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 88994989 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 184 (Y184C)

Ref Sequence

ENSEMBL: ENSMUSP00000015509 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000015509] [ENSMUST00000146993]

Predicted Effect

probably damaging
Transcript: ENSMUST00000015509
AA Change: Y184C

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

SMART Domains

Protein: ENSMUSP00000015509
Gene: ENSMUSG00000015365
AA Change: Y184C

Domain	Start	End	E-Value	Type
low complexity region	52	65	N/A	INTRINSIC
low complexity region	338	349	N/A	INTRINSIC
Blast:AAA	444	526	2e-7	BLAST
internal_repeat_1	615	651	5.23e-10	PROSPERO
internal_repeat_1	648	696	5.23e-10	PROSPERO
Pfam:AAA_11	746	852	1.4e-17	PFAM
Pfam:AAA_30	746	933	5e-11	PFAM
Pfam:AAA_19	754	826	1.5e-10	PFAM
Pfam:AAA_11	855	928	1.3e-18	PFAM
Pfam:AAA_12	935	1152	3.7e-44	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000146993
AA Change: Y236C

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000118437
Gene: ENSMUSG00000015365
AA Change: Y236C

Domain	Start	End	E-Value	Type
low complexity region	104	117	N/A	INTRINSIC
low complexity region	390	401	N/A	INTRINSIC
Blast:AAA	496	578	2e-7	BLAST
internal_repeat_1	667	703	6.08e-10	PROSPERO
internal_repeat_1	700	748	6.08e-10	PROSPERO
Pfam:AAA_11	798	903	1e-15	PFAM
Pfam:AAA_30	798	985	1.8e-11	PFAM
Pfam:AAA_19	806	878	7e-11	PFAM
Pfam:AAA_11	907	980	3.2e-17	PFAM
Pfam:AAA_12	987	1204	1.4e-43	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156949

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is similar to a mouse gene that encodes a putative RNA helicase and shows testis-specific expression. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2009]
PHENOTYPE: Mice homozygous for a targeted allele lacking the helicase domain exhibit male infertility due to meiotic arrest, apoptosis, and derepression of retrotransposons in male germ cells. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arl11	A	T	14: 61,311,242	Q167L	probably benign	Het
Ces3a	T	A	8: 105,050,570	V175E	probably damaging	Het
Cherp	C	T	8: 72,470,194	E140K	probably damaging	Het
Clpx	A	T	9: 65,324,270	T546S	probably damaging	Het
Csgalnact2	A	G	6: 118,129,264	L31P	probably damaging	Het
Cxcr1	A	T	1: 74,192,220	F214L	probably benign	Het
Cyp2c67	T	A	19: 39,643,385	T123S	possibly damaging	Het
Dbt	G	A	3: 116,546,114	G384S	probably benign	Het
Dzank1	G	A	2: 144,490,174	T414I	probably benign	Het
Erich3	A	G	3: 154,748,519	I641V	probably benign	Het
Gtf2e1	A	T	16: 37,535,920	D83E	possibly damaging	Het
Hars2	T	C	18: 36,789,357		probably benign	Het
Hnrnpm	C	A	17: 33,649,902	R517L	probably damaging	Het
Kcnh2	T	C	5: 24,324,966	D372G	probably damaging	Het
Kcnk2	A	T	1: 189,243,014	I264N	probably damaging	Het
Kctd4	A	G	14: 75,963,228	D213G	probably damaging	Het
Lhx9	T	C	1: 138,828,680	T323A	possibly damaging	Het
Lilra6	C	A	7: 3,911,404		probably benign	Het
Meig1	T	C	2: 3,409,274	D63G	probably damaging	Het
Mrpl24	T	A	3: 87,922,219	L91*	probably null	Het
Mup11	C	T	4: 60,659,550	R175H	probably benign	Het
Nbea	T	C	3: 56,005,472	K965E	possibly damaging	Het
Olfr598	C	A	7: 103,329,321	H278Q	probably damaging	Het
Papss1	G	A	3: 131,599,949	E252K	probably benign	Het
Robo2	A	T	16: 74,015,972	L278Q	probably damaging	Het
Sned1	A	T	1: 93,274,403	I638F	probably damaging	Het
Spin1	T	C	13: 51,144,541		probably null	Het
Taar9	T	C	10: 24,109,531	T2A	probably benign	Het
Tbc1d8b	T	C	X: 139,725,880		probably null	Het

Other mutations in Mov10l1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01110:Mov10l1	APN	15	89021257	missense	probably benign	0.05
IGL01369:Mov10l1	APN	15	89024837	splice site	probably benign
IGL01531:Mov10l1	APN	15	89054352	missense	probably damaging	0.99
IGL01712:Mov10l1	APN	15	89024766	missense	probably damaging	0.98
IGL02330:Mov10l1	APN	15	89026490	missense	probably damaging	1.00
IGL02540:Mov10l1	APN	15	89018211	missense	probably benign
IGL02938:Mov10l1	APN	15	88988526	missense	probably damaging	1.00
R0382:Mov10l1	UTSW	15	88985593	missense	possibly damaging	0.96
R0437:Mov10l1	UTSW	15	89005312	missense	probably damaging	0.96
R0504:Mov10l1	UTSW	15	88998839	missense	probably damaging	1.00
R0538:Mov10l1	UTSW	15	88994860	missense	possibly damaging	0.73
R0577:Mov10l1	UTSW	15	89005727	missense	probably damaging	1.00
R0592:Mov10l1	UTSW	15	88998766	critical splice acceptor site	probably null
R0972:Mov10l1	UTSW	15	89021279	missense	probably damaging	0.99
R1386:Mov10l1	UTSW	15	89011386	missense	possibly damaging	0.87
R1737:Mov10l1	UTSW	15	89011404	missense	possibly damaging	0.79
R2120:Mov10l1	UTSW	15	89007627	missense	probably benign	0.30
R3740:Mov10l1	UTSW	15	89012142	missense	possibly damaging	0.92
R3741:Mov10l1	UTSW	15	89012142	missense	possibly damaging	0.92
R3846:Mov10l1	UTSW	15	89012142	missense	possibly damaging	0.92
R3850:Mov10l1	UTSW	15	89005695	critical splice acceptor site	probably null
R3964:Mov10l1	UTSW	15	89012163	missense	probably benign	0.00
R3965:Mov10l1	UTSW	15	89012163	missense	probably benign	0.00
R4049:Mov10l1	UTSW	15	88995032	splice site	probably benign
R4836:Mov10l1	UTSW	15	89020269	missense	possibly damaging	0.47
R5233:Mov10l1	UTSW	15	88983032	missense	probably benign
R5466:Mov10l1	UTSW	15	88985701	critical splice donor site	probably null
R5552:Mov10l1	UTSW	15	89054366	critical splice donor site	probably null
R5780:Mov10l1	UTSW	15	89011978	missense	probably benign
R6275:Mov10l1	UTSW	15	89026620	missense	probably damaging	0.99
R6326:Mov10l1	UTSW	15	88994895	missense	probably damaging	1.00
R6652:Mov10l1	UTSW	15	88993902	missense	probably damaging	1.00
R6793:Mov10l1	UTSW	15	88996184	missense	possibly damaging	0.86
R7278:Mov10l1	UTSW	15	88993868	missense	probably benign	0.18
R7733:Mov10l1	UTSW	15	89024801	missense	probably damaging	0.99
R7998:Mov10l1	UTSW	15	89053439	missense	probably damaging	1.00
R8260:Mov10l1	UTSW	15	89012110	missense	probably benign
R8426:Mov10l1	UTSW	15	88997405	critical splice donor site	probably null
Z1177:Mov10l1	UTSW	15	88996136	missense	probably benign	0.36
Z1177:Mov10l1	UTSW	15	89018168	missense	probably damaging	0.99
Z1177:Mov10l1	UTSW	15	89053411	missense	probably damaging	0.99

Posted On

2013-04-17