Mutagenetix > Incidental Mutation

Incidental Mutation 'R6062:Rem1'

483830

Institutional Source

Beutler Lab

Gene Symbol

Rem1

Ensembl Gene

ENSMUSG00000000359

Gene Name

rad and gem related GTP binding protein 1

Synonyms

E030011C07Rik

MMRRC Submission

044227-MU

Accession Numbers

Essential gene?

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

Stock #

R6062 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

152468928-152477111 bp(+) (GRCm39)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

T to C at 152470017 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 1 (M1T)

Ref Sequence

ENSEMBL: ENSMUSP00000119532 (fasta)

Gene Model

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

AlphaFold

O35929

Predicted Effect

probably null
Transcript: ENSMUST00000000369
AA Change: M1T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000000369
Gene: ENSMUSG00000000359
AA Change: M1T

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

probably null
Transcript: ENSMUST00000150913
AA Change: M1T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Meta Mutation Damage Score

0.9518

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 92.9%

Validation Efficiency

98% (56/57)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atat1	T	A	17: 36,219,456 (GRCm39)	Q136L	probably damaging	Het
Atm	A	G	9: 53,399,887 (GRCm39)	L1531P	probably damaging	Het
Brca2	G	A	5: 150,480,354 (GRCm39)	R2708H	probably damaging	Het
Cand1	G	A	10: 119,053,915 (GRCm39)	A141V	possibly damaging	Het
Cdcp2	T	C	4: 106,959,689 (GRCm39)	S35P	probably damaging	Het
Ces4a	G	A	8: 105,864,806 (GRCm39)		probably null	Het
Colec10	T	A	15: 54,323,203 (GRCm39)	M142K	possibly damaging	Het
Crtc1	G	T	8: 70,858,839 (GRCm39)	D90E	probably damaging	Het
Csmd1	T	C	8: 16,142,319 (GRCm39)	E1528G	possibly damaging	Het
Csnk2a2	A	G	8: 96,184,097 (GRCm39)	V154A	possibly damaging	Het
Daglb	T	C	5: 143,480,358 (GRCm39)	I454T	probably benign	Het
Dtna	C	A	18: 23,755,113 (GRCm39)	N478K	possibly damaging	Het
E330034G19Rik	A	T	14: 24,343,448 (GRCm39)		probably benign	Het
Ecpas	G	T	4: 58,826,453 (GRCm39)	S1038Y	possibly damaging	Het
Eefsec	A	T	6: 88,332,611 (GRCm39)	S200T	probably benign	Het
Enthd1	T	A	15: 80,336,916 (GRCm39)	D506V	probably damaging	Het
Erbb2	A	G	11: 98,324,075 (GRCm39)	Y736C	probably damaging	Het
Gabrg1	A	G	5: 70,938,056 (GRCm39)	C183R	probably damaging	Het
Ginm1	T	A	10: 7,651,097 (GRCm39)	H103L	probably benign	Het
Golgb1	C	A	16: 36,735,033 (GRCm39)	Q1427K	possibly damaging	Het
Grb14	G	T	2: 64,852,964 (GRCm39)	Q9K	possibly damaging	Het
Hbp1	A	T	12: 31,987,246 (GRCm39)	M192K	probably damaging	Het
Herpud2	A	T	9: 25,020,284 (GRCm39)	D357E	probably damaging	Het
Idi1	A	G	13: 8,937,541 (GRCm39)	S111G	probably damaging	Het
Lrrc32	T	C	7: 98,147,748 (GRCm39)	V176A	probably benign	Het
Matn1	T	A	4: 130,679,277 (GRCm39)	D310E	probably benign	Het
Mbtps1	A	T	8: 120,257,830 (GRCm39)	L469Q	possibly damaging	Het
Muc4	A	G	16: 32,579,682 (GRCm39)	D2417G	unknown	Het
Myo7b	T	C	18: 32,101,043 (GRCm39)	T1551A	possibly damaging	Het
Neb	A	G	2: 52,075,293 (GRCm39)	M224T	probably benign	Het
Ola1	A	T	2: 73,029,842 (GRCm39)	D92E	probably damaging	Het
Or1e28-ps1	A	C	11: 73,615,386 (GRCm39)	C155G	unknown	Het
Or4l1	A	T	14: 50,166,119 (GRCm39)	M294K	probably damaging	Het
Or5ar1	T	G	2: 85,671,458 (GRCm39)	I226L	probably benign	Het
Or8b48	T	A	9: 38,450,440 (GRCm39)	M83K	probably damaging	Het
Otud4	T	C	8: 80,400,525 (GRCm39)	Y1080H	probably damaging	Het
Plce1	G	A	19: 38,513,195 (GRCm39)	A165T	probably benign	Het
Prelid2	T	C	18: 42,045,530 (GRCm39)	I127V	probably benign	Het
Rab35	A	G	5: 115,778,147 (GRCm39)	I38V	probably damaging	Het
Rab3d	T	C	9: 21,821,815 (GRCm39)	T209A	probably benign	Het
Rapgef1	A	G	2: 29,590,744 (GRCm39)	E321G	probably damaging	Het
Rgsl1	T	C	1: 153,675,618 (GRCm39)	K181R	possibly damaging	Het
Scel	C	A	14: 103,822,572 (GRCm39)	N395K	possibly damaging	Het
Septin9	A	G	11: 117,181,626 (GRCm39)	E142G	possibly damaging	Het
Shcbp1	A	C	8: 4,814,905 (GRCm39)	M191R	probably benign	Het
Slc22a19	T	C	19: 7,651,647 (GRCm39)	N520S	probably damaging	Het
Slc28a1	C	T	7: 80,765,311 (GRCm39)	R9*	probably null	Het
Slc2a7	T	C	4: 150,252,884 (GRCm39)	V508A	probably benign	Het
Slc8a3	G	A	12: 81,361,124 (GRCm39)	P565L	probably damaging	Het
Svil	T	G	18: 5,106,724 (GRCm39)	V1855G	probably damaging	Het
Tenm3	T	G	8: 48,796,441 (GRCm39)	I455L	possibly damaging	Het
Tmem267	T	C	13: 120,070,767 (GRCm39)	S141P	probably damaging	Het
Tnn	T	A	1: 159,925,848 (GRCm39)	D1383V	probably damaging	Het
Usp9y	G	T	Y: 1,454,199 (GRCm39)	Q23K	probably benign	Het
Vmn1r46	T	C	6: 89,953,241 (GRCm39)	I30T	possibly damaging	Het
Zfp382	T	C	7: 29,833,015 (GRCm39)	L222P	probably damaging	Het
Zfp950	T	A	19: 61,108,863 (GRCm39)	K73N	possibly damaging	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
R5853:Rem1	UTSW	2	152,470,200 (GRCm39)	missense	possibly damaging	0.92
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'- TTTAGGCCTGAAACCAGCAG -3'
(R):5'- GATTCAGAGGACCACCCATC -3'

Sequencing Primer
(F):5'- TGAAACCAGCAGCCCCGG -3'
(R):5'- GGCAGGGGAGGGTTTCC -3'

Posted On

2017-07-14