Mutagenetix > Incidental Mutations

Incidental Mutation 'R4287:Memo1'

322079

Institutional Source

Beutler Lab

Gene Symbol

Memo1

Ensembl Gene

ENSMUSG00000058704

Gene Name

mediator of cell motility 1

Synonyms

0610016J10Rik, D930048L02Rik

MMRRC Submission

041652-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R4287 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

74200706-74294883 bp(-) (GRCm38)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

T to C at 74255298 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000077553 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078459] [ENSMUST00000078459]

AlphaFold

Q91VH6

Predicted Effect

probably null
Transcript: ENSMUST00000078459

SMART Domains

Protein: ENSMUSP00000077553
Gene: ENSMUSG00000058704

Domain	Start	End	E-Value	Type
Pfam:Memo	9	293	3.7e-84	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000078459

SMART Domains

Protein: ENSMUSP00000077553
Gene: ENSMUSG00000058704

Domain	Start	End	E-Value	Type
Pfam:Memo	9	293	3.7e-84	PFAM

Meta Mutation Damage Score

0.9483

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.6%
20x: 95.9%

Validation Efficiency

98% (40/41)

MGI Phenotype

PHENOTYPE: Mice homozygous for a floxed allele activated postnatally exhibit a reduced life span, increased insulin sensitivity, small stature, graying hair, alopecia, kyphosis, loss of subcutaneous fat, loss of spermatozoa in the epididymis and increased active vitamin D. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anapc5	A	G	5: 122,800,601	V362A	probably benign	Het
Ash1l	T	A	3: 89,066,415	C2594S	probably damaging	Het
Ccdc82	C	A	9: 13,253,418	Q303K	probably benign	Het
Cog1	A	G	11: 113,654,027	Y345C	probably damaging	Het
Fpgt	T	C	3: 155,091,360		probably benign	Het
Glrb	A	T	3: 80,845,232	V408D	possibly damaging	Het
Gm7135	A	G	1: 97,400,398		noncoding transcript	Het
Il1rn	T	C	2: 24,349,545	L151P	probably damaging	Het
Itgav	G	T	2: 83,724,840	E36*	probably null	Het
Kidins220	G	A	12: 25,056,846	E1433K	possibly damaging	Het
Klk14	G	A	7: 43,692,077	C51Y	probably damaging	Het
Klra3	A	G	6: 130,334,302	C39R	probably benign	Het
Lce1i	A	G	3: 92,777,435	S145P	unknown	Het
Mpp3	G	A	11: 102,023,463	A102V	probably damaging	Het
Mug2	T	A	6: 122,063,673	D727E	probably benign	Het
Ndufb8	T	C	19: 44,552,691	I107V	probably benign	Het
Olfr186	A	T	16: 59,027,613	M98K	probably benign	Het
Pnn	C	T	12: 59,072,170	T513I	possibly damaging	Het
Ric8a	A	G	7: 140,861,422	Y210C	probably damaging	Het
Ripor2	G	A	13: 24,725,009	V1037M	probably damaging	Het
Rreb1	A	T	13: 37,931,931	T1089S	probably benign	Het
Rrs1	C	T	1: 9,546,215	S231L	probably damaging	Het
Rrs1	C	T	1: 9,546,223	R234C	possibly damaging	Het
Sec23ip	A	G	7: 128,777,333	D838G	probably benign	Het
Setbp1	T	C	18: 78,859,061	I464V	probably benign	Het
Slc25a51	C	T	4: 45,399,768	V141M	probably benign	Het
Slc41a3	A	T	6: 90,640,922	H310L	probably benign	Het
Smurf1	A	G	5: 144,891,458	S363P	probably benign	Het
Tln1	C	T	4: 43,543,509	R1269Q	probably benign	Het
Tmed3	A	G	9: 89,704,898	S10P	probably benign	Het
Tomm70a	T	G	16: 57,140,622	Y313D	probably damaging	Het
Umodl1	A	G	17: 30,988,065	E810G	probably benign	Het
Unc5c	T	C	3: 141,714,674	I52T	probably damaging	Het
Unc5d	T	A	8: 28,719,796	Y432F	probably benign	Het
Vmn2r97	A	T	17: 18,948,075		probably benign	Het
Zfp629	T	C	7: 127,611,938	Y233C	probably damaging	Het
Zfp986	T	C	4: 145,892,518		probably null	Het

Other mutations in Memo1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01410:Memo1	APN	17	74241981	nonsense	probably null
IGL01570:Memo1	APN	17	74217108	splice site	probably benign
IGL02709:Memo1	APN	17	74245032	missense	probably damaging	1.00
IGL03172:Memo1	APN	17	74245001	missense	probably damaging	1.00
R0067:Memo1	UTSW	17	74225458	missense	probably damaging	1.00
R1068:Memo1	UTSW	17	74225555	missense	probably damaging	1.00
R1962:Memo1	UTSW	17	74245008	missense	possibly damaging	0.54
R1964:Memo1	UTSW	17	74245008	missense	possibly damaging	0.54
R2029:Memo1	UTSW	17	74245054	missense	probably null	0.99
R3236:Memo1	UTSW	17	74202352	missense	probably damaging	1.00
R4284:Memo1	UTSW	17	74255298	critical splice acceptor site	probably null
R4285:Memo1	UTSW	17	74255298	critical splice acceptor site	probably null
R4427:Memo1	UTSW	17	74202307	missense	probably benign	0.01
R4583:Memo1	UTSW	17	74258461	nonsense	probably null
R4607:Memo1	UTSW	17	74258461	nonsense	probably null
R4608:Memo1	UTSW	17	74258461	nonsense	probably null
R6118:Memo1	UTSW	17	74202307	missense	possibly damaging	0.52
R6769:Memo1	UTSW	17	74201278	missense	probably damaging	1.00
R6771:Memo1	UTSW	17	74201278	missense	probably damaging	1.00
R7226:Memo1	UTSW	17	74202343	missense	probably damaging	1.00
R7996:Memo1	UTSW	17	74258496	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATGGTAGACTTTCAGACCAAGG -3'
(R):5'- AACAATTGCGTGTTCTCTACTACCTTG -3'

Sequencing Primer
(F):5'- GTGTCAGAATGAAACATTTGACAAC -3'
(R):5'- GCGTGTTCTCTACTACCTTGTAAAG -3'

Posted On

2015-06-20