Mutagenetix > Incidental Mutation

Incidental Mutation 'R5853:Rem1'

454748

Institutional Source

Beutler Lab

Gene Symbol

Rem1

Ensembl Gene

ENSMUSG00000000359

Gene Name

rad and gem related GTP binding protein 1

Synonyms

E030011C07Rik

MMRRC Submission

044068-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

R5853 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

152468928-152477111 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 152470200 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glycine at position 62 (A62G)

Ref Sequence

ENSEMBL: ENSMUSP00000119532 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000369] [ENSMUST00000150913]

AlphaFold

O35929

Predicted Effect

possibly damaging
Transcript: ENSMUST00000000369
AA Change: A62G

PolyPhen 2 Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000000369
Gene: ENSMUSG00000000359
AA Change: A62G

Domain	Start	End	E-Value	Type
low complexity region	64	77	N/A	INTRINSIC
Pfam:Roc	82	198	1e-10	PFAM
Pfam:Ras	82	244	2.6e-32	PFAM
low complexity region	258	290	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139370

Predicted Effect

possibly damaging
Transcript: ENSMUST00000150913
AA Change: A62G

PolyPhen 2 Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a GTPase and member of the RAS-like GTP-binding protein family. The encoded protein is expressed in endothelial cells, where it promotes reorganization of the actin cytoskeleton and morphological changes in the cells. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	G	A	7: 119,939,806 (GRCm39)	V303I	probably benign	Het
Abca4	G	T	3: 121,897,180 (GRCm39)	V620L	probably benign	Het
Ankk1	A	T	9: 49,329,995 (GRCm39)	V320E	possibly damaging	Het
Aoah	G	T	13: 21,184,072 (GRCm39)	A379S	probably benign	Het
Apol7e	A	G	15: 77,598,667 (GRCm39)	D44G	probably benign	Het
Atf2	T	C	2: 73,658,813 (GRCm39)		probably null	Het
Cd209b	T	C	8: 3,976,549 (GRCm39)		probably null	Het
Chek1	G	A	9: 36,624,983 (GRCm39)	S366L	probably damaging	Het
Chpf2	T	C	5: 24,797,190 (GRCm39)	L712P	probably damaging	Het
Clmn	C	A	12: 104,750,161 (GRCm39)		probably null	Het
Cnksr3	T	C	10: 7,092,977 (GRCm39)	D178G	probably benign	Het
Cpox	T	C	16: 58,495,780 (GRCm39)	Y366H	probably damaging	Het
Dnah3	A	G	7: 119,538,056 (GRCm39)	F3632S	probably damaging	Het
Eif5b	T	A	1: 38,076,388 (GRCm39)	D645E	probably damaging	Het
Emilin1	G	A	5: 31,075,966 (GRCm39)	E736K	probably damaging	Het
Gcnt4	G	A	13: 97,083,160 (GRCm39)	R152Q	probably benign	Het
Il6st	T	C	13: 112,618,071 (GRCm39)	S162P	probably damaging	Het
Iqub	T	C	6: 24,491,601 (GRCm39)	K362E	probably benign	Het
Kif22	G	T	7: 126,632,539 (GRCm39)	P257Q	possibly damaging	Het
Lhx2	T	C	2: 38,259,053 (GRCm39)	V378A	probably damaging	Het
Lipo3	A	G	19: 33,759,630 (GRCm39)	V202A	probably benign	Het
Lrp1b	T	A	2: 40,553,738 (GRCm39)	N366I	unknown	Het
Mbip	T	C	12: 56,382,662 (GRCm39)	D268G	probably damaging	Het
Mc5r	A	G	18: 68,472,564 (GRCm39)	M308V	probably benign	Het
Mndal	C	A	1: 173,690,070 (GRCm39)	G420V	probably damaging	Het
Nbea	A	T	3: 55,899,822 (GRCm39)	N1442K	probably damaging	Het
Ndufv1	A	T	19: 4,058,811 (GRCm39)		probably null	Het
Ofcc1	A	G	13: 40,360,193 (GRCm39)	S279P	probably benign	Het
Or4k2	A	T	14: 50,424,326 (GRCm39)	M116K	possibly damaging	Het
Or6b2b	T	C	1: 92,419,439 (GRCm39)	I13V	probably benign	Het
Pabpc1l	A	T	2: 163,891,438 (GRCm39)	H552L	probably benign	Het
Pigr	T	A	1: 130,774,341 (GRCm39)	C440*	probably null	Het
Pramel11	A	G	4: 143,623,490 (GRCm39)	V228A	probably benign	Het
Prss30	C	T	17: 24,191,820 (GRCm39)	V271I	probably damaging	Het
Psme4	T	A	11: 30,741,234 (GRCm39)		probably null	Het
Qrich1	T	A	9: 108,410,807 (GRCm39)		probably benign	Het
Rftn1	T	C	17: 50,354,354 (GRCm39)	N58S	probably damaging	Het
Rp9	G	A	9: 22,360,065 (GRCm39)		probably benign	Het
Rrp1b	G	A	17: 32,275,658 (GRCm39)	V402I	possibly damaging	Het
Slc25a33	A	T	4: 149,838,349 (GRCm39)	Y108N	probably benign	Het
Slc3a1	A	G	17: 85,340,008 (GRCm39)	M189V	probably damaging	Het
Slc44a1	A	C	4: 53,528,682 (GRCm39)	K144T	probably benign	Het
Tbc1d13	T	A	2: 30,027,393 (GRCm39)	H100Q	probably damaging	Het
Timm29	T	C	9: 21,504,749 (GRCm39)	V139A	probably damaging	Het
Tmem70	T	C	1: 16,735,556 (GRCm39)	W9R	possibly damaging	Het
Tspan1	A	G	4: 116,020,502 (GRCm39)		probably null	Het
Unc13a	T	C	8: 72,107,773 (GRCm39)		probably null	Het
Uroc1	T	C	6: 90,323,738 (GRCm39)	F395S	probably damaging	Het
Uvrag	A	C	7: 98,537,284 (GRCm39)	L637R	possibly damaging	Het
Vmn1r213	T	G	13: 23,195,684 (GRCm39)	L3W	probably benign	Het
Zfp280d	C	T	9: 72,238,224 (GRCm39)	T528I	probably benign	Het
Zfp526	C	T	7: 24,924,601 (GRCm39)	Q287*	probably null	Het

Other mutations in Rem1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1121:Rem1	UTSW	2	152,476,455 (GRCm39)	missense	probably damaging	0.96
R1122:Rem1	UTSW	2	152,476,455 (GRCm39)	missense	probably damaging	0.96
R1126:Rem1	UTSW	2	152,476,455 (GRCm39)	missense	probably damaging	0.96
R1233:Rem1	UTSW	2	152,476,455 (GRCm39)	missense	probably damaging	0.96
R1235:Rem1	UTSW	2	152,476,455 (GRCm39)	missense	probably damaging	0.96
R1378:Rem1	UTSW	2	152,476,455 (GRCm39)	missense	probably damaging	0.96
R1709:Rem1	UTSW	2	152,476,455 (GRCm39)	missense	probably damaging	0.96
R1713:Rem1	UTSW	2	152,476,455 (GRCm39)	missense	probably damaging	0.96
R1911:Rem1	UTSW	2	152,476,455 (GRCm39)	missense	probably damaging	0.96
R1912:Rem1	UTSW	2	152,476,455 (GRCm39)	missense	probably damaging	0.96
R5442:Rem1	UTSW	2	152,469,977 (GRCm39)	critical splice acceptor site	probably null
R6062:Rem1	UTSW	2	152,470,017 (GRCm39)	start codon destroyed	probably null	1.00
R6072:Rem1	UTSW	2	152,476,437 (GRCm39)	missense	probably benign
R7215:Rem1	UTSW	2	152,470,069 (GRCm39)	missense	probably damaging	1.00
R7635:Rem1	UTSW	2	152,476,585 (GRCm39)	missense	probably damaging	1.00
R9276:Rem1	UTSW	2	152,469,969 (GRCm39)	splice site	probably benign
X0057:Rem1	UTSW	2	152,471,111 (GRCm39)	missense	probably benign	0.32

Predicted Primers

PCR Primer
(F):5'- GAGGATGACTCTTAACACCCAGC -3'
(R):5'- CAGACAGGCTTTTCAATCCTATGG -3'

Sequencing Primer
(F):5'- TGACTCTTAACACCCAGCAGGAAG -3'
(R):5'- GGCTTTTCAATCCTATGGCCACAG -3'

Posted On

2017-02-10