Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00504:Rasgrp1'

13765

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: 0.264) question?

Stock #

IGL00504

Quality Score

Status

Chromosome

Chromosomal Location

117110464-117173358 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 117136272 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 105 (K105*)

Ref Sequence

ENSEMBL: ENSMUSP00000136423 (fasta)

Gene Model

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

AlphaFold

Q9Z1S3

Predicted Effect

probably null
Transcript: ENSMUST00000102534
AA Change: K105*

SMART Domains

Protein: ENSMUSP00000099593
Gene: ENSMUSG00000027347
AA Change: K105*

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

noncoding transcript
Transcript: ENSMUST00000110898

Predicted Effect

probably null
Transcript: ENSMUST00000172901
AA Change: K105*

SMART Domains

Protein: ENSMUSP00000133449
Gene: ENSMUSG00000027347
AA Change: K105*

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 null
Transcript: ENSMUST00000173252
AA Change: K105*

SMART Domains

Protein: ENSMUSP00000134592
Gene: ENSMUSG00000027347
AA Change: K105*

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 null
Transcript: ENSMUST00000173541
AA Change: K105*

SMART Domains

Protein: ENSMUSP00000134027
Gene: ENSMUSG00000027347
AA Change: K105*

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 null
Transcript: ENSMUST00000174770
AA Change: K105*

SMART Domains

Protein: ENSMUSP00000134167
Gene: ENSMUSG00000027347
AA Change: K105*

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

Predicted Effect

probably null
Transcript: ENSMUST00000178884
AA Change: K105*

SMART Domains

Protein: ENSMUSP00000136423
Gene: ENSMUSG00000027347
AA Change: K105*

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: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atpaf2	T	C	11: 60,296,629 (GRCm39)	D168G	probably damaging	Het
Bcorl1	T	G	X: 47,494,919 (GRCm39)	V1730G	probably damaging	Het
Cela3b	A	T	4: 137,150,592 (GRCm39)	V202E	probably damaging	Het
Col3a1	A	G	1: 45,386,295 (GRCm39)	D145G	probably damaging	Het
Cpsf6	A	T	10: 117,202,034 (GRCm39)		probably benign	Het
Dock5	A	G	14: 68,024,338 (GRCm39)		probably benign	Het
Folh1	T	G	7: 86,383,351 (GRCm39)	R465S	probably damaging	Het
Garem1	T	A	18: 21,281,714 (GRCm39)	Q214L	probably damaging	Het
Ldb2	T	A	5: 44,699,026 (GRCm39)		probably null	Het
Lmln	A	G	16: 32,903,435 (GRCm39)	N283S	probably benign	Het
Mical2	A	G	7: 111,981,352 (GRCm39)	N508S	possibly damaging	Het
Obsl1	C	A	1: 75,467,518 (GRCm39)	G1419C	probably benign	Het
Pafah1b3	T	A	7: 24,995,614 (GRCm39)	T115S	probably benign	Het
Pcdhb5	C	A	18: 37,455,162 (GRCm39)	A514E	probably damaging	Het
Prl8a8	G	T	13: 27,693,593 (GRCm39)	T144K	probably damaging	Het
Rin1	T	C	19: 5,102,438 (GRCm39)	S316P	probably benign	Het
Serpinb3b	A	T	1: 107,085,411 (GRCm39)	F110Y	probably benign	Het
Sh3bgrl2	C	T	9: 83,459,607 (GRCm39)	P55L	probably benign	Het
Slc10a2	T	A	8: 5,141,668 (GRCm39)	S239C	probably damaging	Het
Slc10a2	C	A	8: 5,141,667 (GRCm39)	S239I	probably benign	Het
Slc6a15	T	C	10: 103,225,002 (GRCm39)	V30A	probably benign	Het
Sncaip	T	G	18: 53,018,035 (GRCm39)		probably null	Het
Tcerg1l	T	C	7: 137,811,533 (GRCm39)	R554G	probably damaging	Het
Tfap2b	A	G	1: 19,284,250 (GRCm39)	S35G	possibly damaging	Het
Tor1a	A	G	2: 30,857,202 (GRCm39)	I116T	probably damaging	Het
Tprg1l	A	G	4: 154,242,890 (GRCm39)	S188P	probably damaging	Het
Tut4	G	A	4: 108,407,925 (GRCm39)	R1398H	probably damaging	Het
Vcan	A	T	13: 89,839,394 (GRCm39)	V2050E	possibly damaging	Het
Zfp280d	T	C	9: 72,229,853 (GRCm39)	C362R	probably damaging	Het

Other mutations in Rasgrp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

2012-12-06