Mutagenetix > Incidental Mutation

Incidental Mutation 'R0285:Garem1'

24705

Institutional Source

Beutler Lab

Gene Symbol

Garem1

Ensembl Gene

ENSMUSG00000042680

Gene Name

GRB2 associated regulator of MAPK1 subtype 1

Synonyms

LOC381126, Garem, Fam59a

MMRRC Submission

038506-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.154) question?

Stock #

R0285 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

21260399-21433196 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 21262669 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 715 (M715T)

Ref Sequence

ENSEMBL: ENSMUSP00000048914 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049260]

AlphaFold

Q3UFT3

Predicted Effect

probably benign
Transcript: ENSMUST00000049260
AA Change: M715T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000048914
Gene: ENSMUSG00000042680
AA Change: M715T

Domain	Start	End	E-Value	Type
Pfam:CABIT	32	318	3.4e-79	PFAM
low complexity region	484	499	N/A	INTRINSIC
low complexity region	512	518	N/A	INTRINSIC
PDB:2DKZ\|A	795	874	2e-40	PDB
Blast:SAM	808	875	2e-36	BLAST
SCOP:d1kw4a_	812	873	4e-4	SMART

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 96.1%
20x: 92.9%

Validation Efficiency

99% (80/81)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an adaptor protein which functions in the epidermal growth factor (EGF) receptor-mediated signaling pathway. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acy3	A	G	19: 4,038,193 (GRCm39)	E162G	probably benign	Het
Angptl1	T	C	1: 156,672,785 (GRCm39)	S204P	probably benign	Het
Atf6b	C	T	17: 34,869,370 (GRCm39)		probably benign	Het
Card11	G	A	5: 140,872,856 (GRCm39)	S619F	probably damaging	Het
Ccdc192	G	A	18: 57,666,937 (GRCm39)	G5S	probably damaging	Het
Ccl11	G	A	11: 81,953,084 (GRCm39)	V81I	probably damaging	Het
Cds1	T	C	5: 101,944,904 (GRCm39)	I126T	probably damaging	Het
Chd1	A	G	17: 17,594,942 (GRCm39)		probably benign	Het
Cndp1	C	A	18: 84,636,363 (GRCm39)	V384F	possibly damaging	Het
Cuta	A	G	17: 27,158,423 (GRCm39)		probably null	Het
Diaph3	G	A	14: 87,352,460 (GRCm39)	T47I	possibly damaging	Het
Dop1a	A	T	9: 86,394,692 (GRCm39)	S598C	probably damaging	Het
Dsp	A	G	13: 38,356,770 (GRCm39)	M217V	probably benign	Het
Entrep1	G	A	19: 23,956,749 (GRCm39)		probably benign	Het
Esyt1	T	A	10: 128,348,087 (GRCm39)	I898F	possibly damaging	Het
Fcsk	G	C	8: 111,620,349 (GRCm39)	H235Q	probably benign	Het
Fgd3	A	T	13: 49,417,424 (GRCm39)	W680R	possibly damaging	Het
Folh1	A	G	7: 86,391,373 (GRCm39)		probably benign	Het
Gadl1	C	A	9: 115,859,806 (GRCm39)		probably benign	Het
Gpd2	A	T	2: 57,228,967 (GRCm39)	D257V	probably benign	Het
Hdac7	A	G	15: 97,696,103 (GRCm39)		probably null	Het
Heatr5b	A	G	17: 79,115,882 (GRCm39)	M858T	probably benign	Het
Inpp4b	A	T	8: 82,761,145 (GRCm39)		probably benign	Het
Iqgap3	G	T	3: 88,004,297 (GRCm39)	C461F	probably benign	Het
Lamb1	C	A	12: 31,376,644 (GRCm39)	C559*	probably null	Het
Lratd2	T	C	15: 60,694,816 (GRCm39)	H310R	probably benign	Het
Lrrc31	T	C	3: 30,739,097 (GRCm39)	N308S	probably benign	Het
Ly75	T	C	2: 60,148,663 (GRCm39)	Y1222C	probably damaging	Het
Map3k10	C	A	7: 27,373,325 (GRCm39)	R42L	probably benign	Het
Meioc	A	G	11: 102,563,017 (GRCm39)	T72A	probably benign	Het
Miox	C	T	15: 89,220,477 (GRCm39)	L189F	possibly damaging	Het
Mmp11	T	C	10: 75,761,502 (GRCm39)	Y366C	probably damaging	Het
N4bp2	T	A	5: 65,963,902 (GRCm39)	D650E	probably benign	Het
Ncoa6	T	C	2: 155,257,621 (GRCm39)	M641V	probably damaging	Het
Ncoa6	TGC	TGCGC	2: 155,250,211 (GRCm39)		probably null	Het
Nol4l	G	A	2: 153,325,773 (GRCm39)		probably benign	Het
Notch1	T	G	2: 26,350,873 (GRCm39)	D2089A	possibly damaging	Het
Or10q3	A	G	19: 11,848,502 (GRCm39)	L26P	probably damaging	Het
Or13c7	G	A	4: 43,854,398 (GRCm39)	V30M	possibly damaging	Het
Or52h2	A	T	7: 103,838,531 (GRCm39)	Y294*	probably null	Het
Or5b24	A	T	19: 12,912,536 (GRCm39)	M145L	probably benign	Het
Or5l13	A	G	2: 87,780,475 (GRCm39)	I34T	probably damaging	Het
Or5p68	A	G	7: 107,945,706 (GRCm39)	S161P	probably benign	Het
Or8d23	T	A	9: 38,842,070 (GRCm39)	I201N	possibly damaging	Het
Otof	C	T	5: 30,536,877 (GRCm39)		probably null	Het
Paox	T	C	7: 139,709,053 (GRCm39)	F324L	probably damaging	Het
Pycr1	A	T	11: 120,531,142 (GRCm39)	I277N	probably benign	Het
R3hcc1l	A	T	19: 42,564,568 (GRCm39)	H627L	probably damaging	Het
Rab21	G	A	10: 115,126,768 (GRCm39)	S193L	probably benign	Het
Ralgds	T	G	2: 28,440,581 (GRCm39)		probably null	Het
Rbm42	A	G	7: 30,345,265 (GRCm39)	S169P	possibly damaging	Het
Rfpl4	A	G	7: 5,113,377 (GRCm39)	V262A	probably benign	Het
Rhobtb3	A	G	13: 76,025,628 (GRCm39)	I496T	possibly damaging	Het
Rnf31	G	A	14: 55,838,846 (GRCm39)	A901T	probably damaging	Het
Ryr2	T	C	13: 11,731,863 (GRCm39)	D2359G	probably damaging	Het
Sgo2b	A	C	8: 64,381,823 (GRCm39)	Y336*	probably null	Het
Slc16a7	T	A	10: 125,130,500 (GRCm39)	I62L	probably benign	Het
Slc22a21	A	T	11: 53,850,022 (GRCm39)		probably benign	Het
Slc25a21	A	G	12: 56,904,810 (GRCm39)		probably null	Het
Slc5a4b	T	C	10: 75,898,117 (GRCm39)	I532M	probably damaging	Het
Spata31f1a	G	A	4: 42,850,236 (GRCm39)	T640M	probably benign	Het
Srrm4	C	A	5: 116,605,848 (GRCm39)		probably benign	Het
Stxbp1	C	A	2: 32,713,554 (GRCm39)	E27D	probably benign	Het
Sult2a5	T	A	7: 13,362,685 (GRCm39)	Y131N	probably damaging	Het
Svopl	T	C	6: 37,961,457 (GRCm39)	Q492R	probably benign	Het
Tmem144	G	A	3: 79,746,580 (GRCm39)		probably benign	Het
Tmem87a	A	G	2: 120,224,905 (GRCm39)	S119P	probably benign	Het
Tmprss11c	A	G	5: 86,419,289 (GRCm39)	L90P	probably damaging	Het
Tmprss6	T	A	15: 78,337,068 (GRCm39)	D346V	probably damaging	Het
Ubr4	A	C	4: 139,168,112 (GRCm39)	S2820R	probably damaging	Het
Usp4	T	C	9: 108,255,763 (GRCm39)	V607A	probably benign	Het
Usp45	A	G	4: 21,798,603 (GRCm39)		probably null	Het
Vill	C	T	9: 118,899,895 (GRCm39)		probably benign	Het
Vmn1r13	C	A	6: 57,186,979 (GRCm39)	T46N	probably benign	Het
Vmn2r107	A	G	17: 20,565,873 (GRCm39)	T63A	probably benign	Het
Vmn2r82	T	A	10: 79,232,391 (GRCm39)	W797R	probably damaging	Het
Washc2	T	A	6: 116,198,800 (GRCm39)	D287E	probably damaging	Het
Xpc	G	A	6: 91,475,046 (GRCm39)	L660F	probably damaging	Het

Other mutations in Garem1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00504:Garem1	APN	18	21,281,714 (GRCm39)	missense	probably damaging	1.00
IGL01588:Garem1	APN	18	21,262,854 (GRCm39)	missense	probably damaging	0.99
IGL02171:Garem1	APN	18	21,262,298 (GRCm39)	missense	probably damaging	0.98
IGL02270:Garem1	APN	18	21,281,507 (GRCm39)	missense	probably damaging	1.00
IGL03149:Garem1	APN	18	21,264,523 (GRCm39)	missense	probably damaging	1.00
R0136:Garem1	UTSW	18	21,263,048 (GRCm39)	missense	probably damaging	0.96
R0361:Garem1	UTSW	18	21,432,801 (GRCm39)	nonsense	probably null
R1068:Garem1	UTSW	18	21,301,812 (GRCm39)	missense	probably benign	0.00
R1537:Garem1	UTSW	18	21,301,931 (GRCm39)	splice site	probably null
R1726:Garem1	UTSW	18	21,281,319 (GRCm39)	missense	probably damaging	0.99
R1826:Garem1	UTSW	18	21,262,509 (GRCm39)	missense	probably benign	0.00
R2140:Garem1	UTSW	18	21,262,431 (GRCm39)	missense	probably damaging	1.00
R3714:Garem1	UTSW	18	21,281,947 (GRCm39)	missense	probably damaging	1.00
R3937:Garem1	UTSW	18	21,281,863 (GRCm39)	nonsense	probably null
R4362:Garem1	UTSW	18	21,369,172 (GRCm39)	missense	possibly damaging	0.62
R4441:Garem1	UTSW	18	21,301,807 (GRCm39)	missense	possibly damaging	0.92
R4747:Garem1	UTSW	18	21,263,000 (GRCm39)	missense	probably benign
R4814:Garem1	UTSW	18	21,281,173 (GRCm39)	missense	probably damaging	1.00
R4831:Garem1	UTSW	18	21,262,825 (GRCm39)	missense	probably benign	0.01
R4838:Garem1	UTSW	18	21,280,950 (GRCm39)	missense	probably benign	0.00
R5805:Garem1	UTSW	18	21,281,492 (GRCm39)	missense	probably benign	0.04
R5963:Garem1	UTSW	18	21,262,487 (GRCm39)	missense	probably benign	0.45
R5982:Garem1	UTSW	18	21,281,408 (GRCm39)	missense	possibly damaging	0.64
R6134:Garem1	UTSW	18	21,262,881 (GRCm39)	missense	probably benign	0.00
R6242:Garem1	UTSW	18	21,262,229 (GRCm39)	missense	possibly damaging	0.72
R6453:Garem1	UTSW	18	21,281,796 (GRCm39)	missense	probably damaging	0.99
R6485:Garem1	UTSW	18	21,262,894 (GRCm39)	missense	probably benign	0.00
R6596:Garem1	UTSW	18	21,281,796 (GRCm39)	missense	probably damaging	0.99
R6662:Garem1	UTSW	18	21,281,304 (GRCm39)	missense	probably benign	0.45
R6883:Garem1	UTSW	18	21,262,769 (GRCm39)	missense	probably benign
R6937:Garem1	UTSW	18	21,280,827 (GRCm39)	missense	probably benign	0.00
R7027:Garem1	UTSW	18	21,263,051 (GRCm39)	missense	probably benign
R7256:Garem1	UTSW	18	21,281,811 (GRCm39)	missense	probably damaging	1.00
R7534:Garem1	UTSW	18	21,432,973 (GRCm39)	start gained	probably benign
R7620:Garem1	UTSW	18	21,262,898 (GRCm39)	missense	probably benign
R7869:Garem1	UTSW	18	21,432,757 (GRCm39)	missense	probably damaging	1.00
R7963:Garem1	UTSW	18	21,281,844 (GRCm39)	missense	probably damaging	0.98
R8058:Garem1	UTSW	18	21,281,621 (GRCm39)	missense	probably damaging	1.00
R8953:Garem1	UTSW	18	21,264,388 (GRCm39)	critical splice donor site	probably null
R9273:Garem1	UTSW	18	21,281,274 (GRCm39)	missense	probably damaging	0.99
R9411:Garem1	UTSW	18	21,369,057 (GRCm39)	critical splice donor site	probably null
R9475:Garem1	UTSW	18	21,281,370 (GRCm39)	missense	probably benign	0.00
R9789:Garem1	UTSW	18	21,262,985 (GRCm39)	missense	possibly damaging	0.81
Z1176:Garem1	UTSW	18	21,281,382 (GRCm39)	missense	probably damaging	1.00
Z1176:Garem1	UTSW	18	21,262,849 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAATACTGGTCCTCCGAGAGGTCC -3'
(R):5'- AAGTCCTTCCGCTGAAGCTCTGTC -3'

Sequencing Primer
(F):5'- TCCAGTGACCCTGCTGTG -3'
(R):5'- CAGACAAGGAGTGACTTTCTGC -3'

Posted On

2013-04-16