Mutagenetix > Incidental Mutation

Incidental Mutation 'R7226:Mov10'

562142

Institutional Source

Beutler Lab

Gene Symbol

Mov10

Ensembl Gene

ENSMUSG00000002227

Gene Name

Moloney leukemia virus 10

Synonyms

Mov-10

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.483) question?

Stock #

R7226 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

104794836-104818563 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 104801012 bp (GRCm38)

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: 77,558,989	V17I	unknown	Het
Acad8	T	A	9: 26,978,430	K323*	probably null	Het
Adam18	A	T	8: 24,647,808	C339S	probably damaging	Het
Anxa7	A	G	14: 20,460,195	F396L	probably damaging	Het
Ap2m1	T	A	16: 20,539,451	V73D	probably damaging	Het
Asic2	A	T	11: 80,971,514	I270N	probably damaging	Het
Atrn	T	G	2: 130,986,744	C1070G	probably damaging	Het
Bag6	A	G	17: 35,142,945	N517S	unknown	Het
Cavin1	A	C	11: 100,970,458	D3E	probably benign	Het
Cc2d2b	T	C	19: 40,791,307	L571P	unknown	Het
Ccbe1	A	T	18: 66,083,128	C175S	probably damaging	Het
Cd19	A	G	7: 126,414,823	L5P	unknown	Het
Cd46	A	G	1: 195,042,006	S362P	possibly damaging	Het
Celf5	A	G	10: 81,468,029	S198P	probably damaging	Het
Cep170b	A	G	12: 112,737,925	R706G	possibly damaging	Het
Chd3	G	T	11: 69,369,211	R61S	unknown	Het
Cpsf6	A	C	10: 117,361,822	W253G	unknown	Het
Cyp27a1	G	A	1: 74,737,348	G481D	probably damaging	Het
Ddr1	C	T	17: 35,691,147	D218N	possibly damaging	Het
Dhx34	A	T	7: 16,198,876	V1046D	probably damaging	Het
Dhx9	A	T	1: 153,465,677	D608E	probably benign	Het
Dnajc6	C	A	4: 101,639,372	A912E	probably damaging	Het
Ehmt1	T	C	2: 24,804,782	D1051G	probably damaging	Het
Fam217b	C	A	2: 178,421,203	A320E	probably benign	Het
Farsa	T	A	8: 84,864,060	I169N	probably benign	Het
Fbn2	A	G	18: 58,037,070	C2210R	probably damaging	Het
Fbxo3	T	A	2: 104,050,297	S251T	probably benign	Het
Fer1l6	C	T	15: 58,590,535	T813I	probably benign	Het
Ftl1-ps1	A	T	13: 74,406,995	E131V	probably damaging	Het
Gins3	T	A	8: 95,637,871	I83N	probably damaging	Het
Gja3	T	C	14: 57,035,893	T341A	probably benign	Het
Gja5	A	G	3: 97,050,858	Y77C	probably damaging	Het
Gm14085	C	A	2: 122,522,532	R453S	probably benign	Het
Gm5096	A	G	18: 87,757,466	D371G	possibly damaging	Het
Gm7247	A	G	14: 51,365,351	K48R	probably damaging	Het
Gsx2	C	A	5: 75,075,960	S67*	probably null	Het
H2-Q5	T	A	17: 35,397,113	L217Q		Het
Impg2	T	A	16: 56,267,104	C1095*	probably null	Het
Itga7	G	T	10: 128,940,932	W222L	probably damaging	Het
Kdm2b	T	A	5: 122,921,449	D530V	possibly damaging	Het
Klhdc8a	A	T	1: 132,302,606	D153V	probably damaging	Het
Lin28a	C	T	4: 134,006,308	G143S	probably damaging	Het
Memo1	A	G	17: 74,202,343	L227S	probably damaging	Het
Mettl27	T	A	5: 134,935,803	V138E	probably damaging	Het
Nat10	T	C	2: 103,726,753	N852S	probably benign	Het
Nfkbie	T	C	17: 45,559,227	V166A	possibly damaging	Het
Nktr	T	C	9: 121,746,533	M369T	probably damaging	Het
Nlrp9a	A	T	7: 26,558,724	N589I	probably benign	Het
Nrn1	G	A	13: 36,730,603	R8C	probably benign	Het
Nrsn1	A	G	13: 25,253,468	I159T	probably damaging	Het
Olfr132	C	T	17: 38,130,433	G253D	probably benign	Het
Olfr389	A	G	11: 73,776,677	S217P	possibly damaging	Het
Olfr485	A	T	7: 108,158,957	D305E	probably benign	Het
Olfr794	G	A	10: 129,570,715	G20D	probably benign	Het
Osbp	T	A	19: 11,978,667	D385E	probably benign	Het
Pan3	T	A	5: 147,526,992	N547K	probably damaging	Het
Pum1	C	A	4: 130,771,981	T1036K	probably damaging	Het
Rad54l2	C	A	9: 106,713,472	R485L	probably damaging	Het
Rps26	A	T	10: 128,625,218	F101I	unknown	Het
Sdsl	T	C	5: 120,460,637	N138S	probably benign	Het
Slc39a6	A	T	18: 24,584,027	H649Q	probably damaging	Het
Snip1	T	A	4: 125,071,480	F226Y	probably benign	Het
Srrd	T	C	5: 112,337,456	T334A	unknown	Het
St14	C	T	9: 31,100,152	D448N	possibly damaging	Het
Tmem270	T	A	5: 134,901,684	Q241L	probably benign	Het
Tmem55a	T	A	4: 14,892,464	D109E	probably damaging	Het
Tubb4b	T	C	2: 25,224,168	D41G	probably benign	Het
Uhrf1bp1l	A	T	10: 89,808,641	Q1181L	probably benign	Het
Usf3	T	C	16: 44,220,005	M1616T	possibly damaging	Het
Vmn2r95	A	T	17: 18,451,983	I733F	possibly damaging	Het
Zfp976	A	T	7: 42,613,260	C385*	probably null	Het

Other mutations in Mov10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00498:Mov10	APN	3	104800947	splice site	probably benign
IGL01111:Mov10	APN	3	104801405	missense	possibly damaging	0.71
IGL01315:Mov10	APN	3	104795945	missense	probably damaging	0.98
IGL01463:Mov10	APN	3	104800324	missense	probably damaging	1.00
IGL02114:Mov10	APN	3	104795318	unclassified	probably benign
IGL02354:Mov10	APN	3	104804121	splice site	probably benign
IGL02361:Mov10	APN	3	104804121	splice site	probably benign
IGL02692:Mov10	APN	3	104800803	nonsense	probably null
IGL03104:Mov10	APN	3	104797307	missense	probably damaging	1.00
IGL03121:Mov10	APN	3	104801002	missense	probably benign
P0040:Mov10	UTSW	3	104804679	missense	probably damaging	1.00
R0025:Mov10	UTSW	3	104804603	missense	probably damaging	1.00
R0270:Mov10	UTSW	3	104795405	missense	probably benign	0.09
R0747:Mov10	UTSW	3	104802496	missense	probably benign	0.41
R1434:Mov10	UTSW	3	104795174	missense	probably damaging	1.00
R1482:Mov10	UTSW	3	104804546	missense	probably damaging	0.98
R1594:Mov10	UTSW	3	104795411	missense	probably damaging	1.00
R1656:Mov10	UTSW	3	104799596	missense	probably benign	0.03
R1739:Mov10	UTSW	3	104800282	missense	probably damaging	0.98
R1785:Mov10	UTSW	3	104818116	missense	possibly damaging	0.73
R1786:Mov10	UTSW	3	104818116	missense	possibly damaging	0.73
R1911:Mov10	UTSW	3	104801560	splice site	probably benign
R1962:Mov10	UTSW	3	104796977	missense	probably damaging	1.00
R1993:Mov10	UTSW	3	104799419	missense	probably damaging	1.00
R2095:Mov10	UTSW	3	104801531	missense	probably damaging	1.00
R2138:Mov10	UTSW	3	104804242	missense	probably benign	0.00
R3107:Mov10	UTSW	3	104799724	missense	probably damaging	1.00
R4241:Mov10	UTSW	3	104797276	missense	probably benign	0.45
R4280:Mov10	UTSW	3	104799779	missense	probably damaging	0.98
R4474:Mov10	UTSW	3	104818465	missense	probably damaging	1.00
R5227:Mov10	UTSW	3	104802578	missense	probably benign
R5391:Mov10	UTSW	3	104802533	missense	probably benign	0.12
R5704:Mov10	UTSW	3	104799596	missense	probably benign	0.03
R5819:Mov10	UTSW	3	104801512	missense	probably damaging	1.00
R5842:Mov10	UTSW	3	104799379	splice site	probably benign
R6059:Mov10	UTSW	3	104817950	utr 3 prime	probably benign
R6692:Mov10	UTSW	3	104818044	missense	probably damaging	0.97
R7426:Mov10	UTSW	3	104800052	splice site	probably null
R7633:Mov10	UTSW	3	104797065	missense	possibly damaging	0.93
R7637:Mov10	UTSW	3	104795885	missense	probably benign	0.26
R7869:Mov10	UTSW	3	104804678	missense	probably damaging	1.00
R8684:Mov10	UTSW	3	104804374	missense	probably benign
R9008:Mov10	UTSW	3	104800016	missense	probably benign	0.09
R9127:Mov10	UTSW	3	104804343	nonsense	probably null
R9559:Mov10	UTSW	3	104800961	missense
R9587:Mov10	UTSW	3	104804583	missense	probably benign	0.11
R9602:Mov10	UTSW	3	104800968	missense	probably benign	0.18
R9606:Mov10	UTSW	3	104800348	missense	probably benign	0.00
R9708:Mov10	UTSW	3	104797297	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