Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02684:Rasgrp1'

303489

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rasgrp1

Ensembl Gene

ENSMUSG00000027347

Gene Name

RAS guanyl releasing protein 1

Synonyms

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.270) question?

Stock #

IGL02684

Quality Score

Status

Chromosome

Chromosomal Location

117110464-117173358 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 117113057 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 785 (V785A)

Ref Sequence

ENSEMBL: ENSMUSP00000136423 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102534] [ENSMUST00000172901] [ENSMUST00000173252] [ENSMUST00000173541] [ENSMUST00000174770] [ENSMUST00000178884]

AlphaFold

Q9Z1S3

Predicted Effect

probably benign
Transcript: ENSMUST00000102534
AA Change: V785A

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000099593
Gene: ENSMUSG00000027347
AA Change: V785A

Domain	Start	End	E-Value	Type
RasGEFN	52	176	1.65e-33	SMART
RasGEF	201	437	1.64e-96	SMART
Pfam:EF-hand_5	474	499	3.2e-6	PFAM
Pfam:EF-hand_6	474	502	5e-6	PFAM
C1	542	591	5.77e-16	SMART
PDB:4L9U\|B	740	791	2e-23	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000172901

SMART Domains

Protein: ENSMUSP00000133449
Gene: ENSMUSG00000027347

Domain	Start	End	E-Value	Type
RasGEFN	52	176	1.65e-33	SMART
RasGEF	201	437	1.64e-96	SMART
Pfam:EF-hand_6	442	467	1.2e-5	PFAM
C1	507	556	5.77e-16	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000173252

SMART Domains

Protein: ENSMUSP00000134592
Gene: ENSMUSG00000027347

Domain	Start	End	E-Value	Type
RasGEFN	52	176	1.65e-33	SMART
RasGEF	201	437	1.64e-96	SMART
Pfam:EF-hand_6	442	467	1.1e-5	PFAM
Pfam:C1_1	507	539	3.4e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000173541
AA Change: V750A

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000134027
Gene: ENSMUSG00000027347
AA Change: V750A

Domain	Start	End	E-Value	Type
RasGEFN	52	176	1.65e-33	SMART
RasGEF	201	437	1.64e-96	SMART
Pfam:EF-hand_5	441	464	1.6e-5	PFAM
Pfam:EF-hand_6	442	467	1.6e-5	PFAM
C1	507	556	5.77e-16	SMART
PDB:4L9U\|B	705	756	2e-23	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000174770

SMART Domains

Protein: ENSMUSP00000134167
Gene: ENSMUSG00000027347

Domain	Start	End	E-Value	Type
RasGEFN	52	176	1.65e-33	SMART
RasGEF	201	437	1.64e-96	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000178884
AA Change: V785A

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000136423
Gene: ENSMUSG00000027347
AA Change: V785A

Domain	Start	End	E-Value	Type
RasGEFN	52	176	1.65e-33	SMART
RasGEF	201	437	1.64e-96	SMART
Pfam:EF-hand_5	474	499	3.2e-6	PFAM
C1	542	591	5.77e-16	SMART
PDB:4L9U\|B	740	791	2e-23	PDB

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of a family of genes characterized by the presence of a Ras superfamily guanine nucleotide exchange factor (GEF) domain. It functions as a diacylglycerol (DAG)-regulated nucleotide exchange factor specifically activating Ras through the exchange of bound GDP for GTP. It activates the Erk/MAP kinase cascade and regulates T-cells and B-cells development, homeostasis and differentiation. Alternatively spliced transcript variants encoding different isoforms have been identified. Altered expression of the different isoforms of this protein may be a cause of susceptibility to systemic lupus erythematosus (SLE). [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for spontaneous and targeted null mutations exhibit a lymphoproliferative autoimmune syndrome in which T cells fail to activate Ras or proliferate after antigen exposure, defects in positive selection, and enlarged spleen and lymph nodes. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930596D02Rik	A	T	14: 35,532,020 (GRCm39)	L185*	probably null	Het
Aadacl4fm5	A	G	4: 144,504,755 (GRCm39)		probably benign	Het
Actrt3	A	T	3: 30,653,840 (GRCm39)	D53E	probably benign	Het
Ankrd34b	T	C	13: 92,575,016 (GRCm39)	S83P	probably damaging	Het
Asap1	A	G	15: 63,966,018 (GRCm39)	V1029A	probably benign	Het
Blk	T	C	14: 63,617,143 (GRCm39)	E288G	probably benign	Het
Cep192	T	G	18: 67,967,634 (GRCm39)	V706G	probably damaging	Het
Chd2	T	C	7: 73,125,097 (GRCm39)	K908E	probably damaging	Het
Dnm1l	A	T	16: 16,139,521 (GRCm39)	I391N	possibly damaging	Het
Fmn1	A	G	2: 113,355,622 (GRCm39)	R688G	unknown	Het
Gdap2	A	G	3: 100,078,336 (GRCm39)	D100G	probably benign	Het
Gm43638	T	C	5: 87,610,769 (GRCm39)	I522V	possibly damaging	Het
Gsap	A	T	5: 21,447,801 (GRCm39)		probably null	Het
Hoxd12	A	G	2: 74,505,905 (GRCm39)	S159G	probably benign	Het
Ints7	A	G	1: 191,345,749 (GRCm39)		probably null	Het
Iqsec3	G	A	6: 121,389,900 (GRCm39)	Q524*	probably null	Het
Klra10	T	A	6: 130,258,845 (GRCm39)	H14L	possibly damaging	Het
Lratd1	T	C	12: 14,200,646 (GRCm39)	D27G	probably damaging	Het
Mettl15	T	C	2: 108,961,925 (GRCm39)	E228G	probably damaging	Het
Or51v8	T	C	7: 103,319,591 (GRCm39)	M216V	probably benign	Het
Or9s18	G	A	13: 65,300,210 (GRCm39)	M57I	probably damaging	Het
Pabpc1l	A	G	2: 163,873,197 (GRCm39)	N156D	probably benign	Het
Pkhd1l1	G	T	15: 44,379,605 (GRCm39)		probably null	Het
Pm20d1	T	A	1: 131,732,697 (GRCm39)	N345K	probably benign	Het
Sos2	A	G	12: 69,643,440 (GRCm39)	L980S	probably damaging	Het
Stam2	A	T	2: 52,609,947 (GRCm39)	H56Q	probably damaging	Het
Trpm6	T	A	19: 18,779,571 (GRCm39)		probably benign	Het
Trpm7	A	T	2: 126,688,079 (GRCm39)	D249E	probably damaging	Het
Vmn1r203	A	T	13: 22,708,539 (GRCm39)	T107S	possibly damaging	Het
Vmn2r55	A	G	7: 12,404,887 (GRCm39)	L172P	probably damaging	Het
Vrtn	A	G	12: 84,696,923 (GRCm39)	R558G	probably benign	Het
Zfp977	A	T	7: 42,232,439 (GRCm39)	D7E	probably damaging	Het

Other mutations in Rasgrp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00504:Rasgrp1	APN	2	117,136,272 (GRCm39)	nonsense	probably null
IGL00901:Rasgrp1	APN	2	117,115,611 (GRCm39)	missense	probably damaging	0.96
IGL01083:Rasgrp1	APN	2	117,115,549 (GRCm39)	missense	probably benign	0.22
IGL01325:Rasgrp1	APN	2	117,129,010 (GRCm39)	missense	probably damaging	1.00
IGL01520:Rasgrp1	APN	2	117,119,144 (GRCm39)	missense	probably damaging	1.00
IGL01776:Rasgrp1	APN	2	117,117,321 (GRCm39)	critical splice donor site	probably null
IGL01780:Rasgrp1	APN	2	117,115,359 (GRCm39)	missense	probably benign	0.00
IGL01859:Rasgrp1	APN	2	117,119,899 (GRCm39)	missense	probably benign	0.00
IGL01892:Rasgrp1	APN	2	117,124,323 (GRCm39)	missense	probably damaging	1.00
IGL02068:Rasgrp1	APN	2	117,131,059 (GRCm39)	splice site	probably benign
bukhansan	UTSW	2	117,122,178 (GRCm39)	missense	possibly damaging	0.78
Commendatore	UTSW	2	117,113,132 (GRCm39)	missense	probably benign	0.03
dragged	UTSW	2	117,129,026 (GRCm39)	missense	probably damaging	1.00
grouper	UTSW	2	117,132,485 (GRCm39)	nonsense	probably null
Gyeryandsan	UTSW	2	117,118,424 (GRCm39)	missense	probably damaging	1.00
Haddock	UTSW	2	117,122,376 (GRCm39)	missense	probably damaging	0.99
jovial	UTSW	2	117,119,158 (GRCm39)	missense	probably benign	0.01
mercurial	UTSW	2	117,118,314 (GRCm39)	nonsense	probably null
naejangsan	UTSW	2	117,122,273 (GRCm39)	nonsense	probably null
sea_bass	UTSW	2	117,113,135 (GRCm39)	missense	probably benign	0.02
venutian	UTSW	2	117,115,410 (GRCm39)	nonsense	probably null
R0067:Rasgrp1	UTSW	2	117,125,301 (GRCm39)	missense	probably damaging	1.00
R0067:Rasgrp1	UTSW	2	117,125,301 (GRCm39)	missense	probably damaging	1.00
R0538:Rasgrp1	UTSW	2	117,115,428 (GRCm39)	missense	probably benign	0.42
R0786:Rasgrp1	UTSW	2	117,130,980 (GRCm39)	missense	probably benign
R1068:Rasgrp1	UTSW	2	117,113,057 (GRCm39)	missense	probably benign	0.03
R1165:Rasgrp1	UTSW	2	117,115,420 (GRCm39)	missense	possibly damaging	0.49
R1491:Rasgrp1	UTSW	2	117,113,100 (GRCm39)	nonsense	probably null
R1707:Rasgrp1	UTSW	2	117,129,028 (GRCm39)	missense	probably damaging	1.00
R1869:Rasgrp1	UTSW	2	117,120,828 (GRCm39)	missense	probably damaging	1.00
R2214:Rasgrp1	UTSW	2	117,115,646 (GRCm39)	missense	probably damaging	0.98
R2425:Rasgrp1	UTSW	2	117,119,931 (GRCm39)	critical splice acceptor site	probably null
R3236:Rasgrp1	UTSW	2	117,122,293 (GRCm39)	missense	probably benign	0.00
R3915:Rasgrp1	UTSW	2	117,119,122 (GRCm39)	missense	probably damaging	1.00
R4079:Rasgrp1	UTSW	2	117,115,510 (GRCm39)	missense	probably benign	0.19
R4163:Rasgrp1	UTSW	2	117,113,135 (GRCm39)	missense	probably benign	0.02
R4781:Rasgrp1	UTSW	2	117,122,190 (GRCm39)	missense	probably benign	0.04
R4782:Rasgrp1	UTSW	2	117,115,356 (GRCm39)	missense	probably benign	0.00
R5028:Rasgrp1	UTSW	2	117,132,485 (GRCm39)	nonsense	probably null
R6019:Rasgrp1	UTSW	2	117,122,376 (GRCm39)	missense	probably damaging	0.99
R6220:Rasgrp1	UTSW	2	117,115,410 (GRCm39)	nonsense	probably null
R6294:Rasgrp1	UTSW	2	117,122,273 (GRCm39)	nonsense	probably null
R6335:Rasgrp1	UTSW	2	117,124,351 (GRCm39)	missense	probably damaging	0.99
R6948:Rasgrp1	UTSW	2	117,129,085 (GRCm39)	missense	probably damaging	0.99
R7165:Rasgrp1	UTSW	2	117,168,885 (GRCm39)	missense	probably benign	0.02
R7246:Rasgrp1	UTSW	2	117,168,835 (GRCm39)	nonsense	probably null
R7372:Rasgrp1	UTSW	2	117,115,635 (GRCm39)	missense	probably benign	0.01
R7400:Rasgrp1	UTSW	2	117,129,026 (GRCm39)	missense	probably damaging	1.00
R7432:Rasgrp1	UTSW	2	117,118,424 (GRCm39)	missense	probably damaging	1.00
R7448:Rasgrp1	UTSW	2	117,122,178 (GRCm39)	missense	possibly damaging	0.78
R7448:Rasgrp1	UTSW	2	117,118,424 (GRCm39)	missense	probably damaging	1.00
R7449:Rasgrp1	UTSW	2	117,118,424 (GRCm39)	missense	probably damaging	1.00
R7450:Rasgrp1	UTSW	2	117,118,424 (GRCm39)	missense	probably damaging	1.00
R7475:Rasgrp1	UTSW	2	117,116,589 (GRCm39)	missense	probably benign
R7487:Rasgrp1	UTSW	2	117,118,424 (GRCm39)	missense	probably damaging	1.00
R7573:Rasgrp1	UTSW	2	117,118,424 (GRCm39)	missense	probably damaging	1.00
R7672:Rasgrp1	UTSW	2	117,118,424 (GRCm39)	missense	probably damaging	1.00
R8016:Rasgrp1	UTSW	2	117,118,314 (GRCm39)	nonsense	probably null
R8199:Rasgrp1	UTSW	2	117,124,293 (GRCm39)	missense	probably damaging	1.00
R8527:Rasgrp1	UTSW	2	117,168,785 (GRCm39)	missense	probably benign	0.07
R8692:Rasgrp1	UTSW	2	117,115,353 (GRCm39)	missense	probably damaging	0.97
R8725:Rasgrp1	UTSW	2	117,119,158 (GRCm39)	missense	probably benign	0.01
R8727:Rasgrp1	UTSW	2	117,119,158 (GRCm39)	missense	probably benign	0.01
R8880:Rasgrp1	UTSW	2	117,115,425 (GRCm39)	missense	probably benign	0.01
R9280:Rasgrp1	UTSW	2	117,113,132 (GRCm39)	missense	probably benign	0.03
R9675:Rasgrp1	UTSW	2	117,173,190 (GRCm39)	start codon destroyed	probably benign	0.00
R9792:Rasgrp1	UTSW	2	117,118,429 (GRCm39)	missense	probably benign	0.32
R9793:Rasgrp1	UTSW	2	117,118,429 (GRCm39)	missense	probably benign	0.32
R9795:Rasgrp1	UTSW	2	117,118,429 (GRCm39)	missense	probably benign	0.32
Z1176:Rasgrp1	UTSW	2	117,132,455 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16