Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00901:Rasgrp1'

26828

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 #

IGL00901

Quality Score

Status

Chromosome

Chromosomal Location

117110464-117173358 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 117115611 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 659 (K659R)

Ref Sequence

ENSEMBL: ENSMUSP00000136423 (fasta)

Gene Model

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

AlphaFold

Q9Z1S3

Predicted Effect

probably damaging
Transcript: ENSMUST00000102534
AA Change: K659R

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000099593
Gene: ENSMUSG00000027347
AA Change: K659R

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 damaging
Transcript: ENSMUST00000173541
AA Change: K624R

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000134027
Gene: ENSMUSG00000027347
AA Change: K624R

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 damaging
Transcript: ENSMUST00000178884
AA Change: K659R

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000136423
Gene: ENSMUSG00000027347
AA Change: K659R

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot6	A	G	12: 84,153,250 (GRCm39)	Y164C	probably benign	Het
Anpep	A	G	7: 79,489,171 (GRCm39)	S334P	probably benign	Het
Arhgef1	A	G	7: 24,612,118 (GRCm39)	E129G	probably damaging	Het
Bmt2	G	T	6: 13,628,748 (GRCm39)	H312N	probably damaging	Het
Brme1	A	G	8: 84,893,400 (GRCm39)	D189G	probably damaging	Het
Ces2g	A	G	8: 105,691,761 (GRCm39)	Y272C	probably benign	Het
Cfap69	T	A	5: 5,669,162 (GRCm39)		probably benign	Het
Cftr	T	C	6: 18,268,429 (GRCm39)		probably null	Het
Clec2g	A	G	6: 128,925,655 (GRCm39)		probably benign	Het
Cyp2b9	A	T	7: 25,897,930 (GRCm39)	I245F	probably damaging	Het
Fbxo6	T	A	4: 148,230,600 (GRCm39)	I221F	probably damaging	Het
Fbxw21	A	C	9: 108,985,467 (GRCm39)	C104G	probably benign	Het
Flna	A	G	X: 73,273,534 (GRCm39)	S101P	probably damaging	Het
Hnrnpm	C	A	17: 33,868,876 (GRCm39)	R517L	probably damaging	Het
Ift88	T	A	14: 57,681,902 (GRCm39)	F229I	probably damaging	Het
Map2k3	T	C	11: 60,832,747 (GRCm39)	S31P	probably benign	Het
Mia2	A	G	12: 59,154,815 (GRCm39)	D176G	probably damaging	Het
Or12d2	T	G	17: 37,624,598 (GRCm39)	K226Q	possibly damaging	Het
Or12e10	A	G	2: 87,640,992 (GRCm39)	Y276C	probably damaging	Het
Or14j6	T	A	17: 38,215,148 (GRCm39)	V237D	probably damaging	Het
Pde7b	C	T	10: 20,494,875 (GRCm39)		probably null	Het
Polr3b	T	C	10: 84,467,660 (GRCm39)	I80T	possibly damaging	Het
Prpf4b	T	A	13: 35,078,465 (GRCm39)	Y692N	probably damaging	Het
Rabl2	T	C	15: 89,474,473 (GRCm39)		probably benign	Het
Ryr3	A	T	2: 112,716,934 (GRCm39)	S774T	probably damaging	Het
Sema5b	C	T	16: 35,471,685 (GRCm39)	T426M	probably damaging	Het
Serpinb10	A	G	1: 107,468,726 (GRCm39)	K123R	probably benign	Het
Slc33a1	T	C	3: 63,871,433 (GRCm39)	D60G	probably benign	Het
Tnks	A	T	8: 35,305,549 (GRCm39)	Y92*	probably null	Het
Tvp23b	T	A	11: 62,774,606 (GRCm39)		probably benign	Het
Wnk1	T	A	6: 119,937,669 (GRCm39)	Q1218L	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
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
IGL02684:Rasgrp1	APN	2	117,113,057 (GRCm39)	missense	probably benign	0.03
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

2013-04-17