Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01892:Rasgrp1'

179270

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 #

IGL01892

Quality Score

Status

Chromosome

Chromosomal Location

117110464-117173358 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 117124323 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 293 (T293M)

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: T293M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000099593
Gene: ENSMUSG00000027347
AA Change: T293M

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 damaging
Transcript: ENSMUST00000172901
AA Change: T293M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000133449
Gene: ENSMUSG00000027347
AA Change: T293M

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 damaging
Transcript: ENSMUST00000173252
AA Change: T293M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000134592
Gene: ENSMUSG00000027347
AA Change: T293M

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: T293M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000134027
Gene: ENSMUSG00000027347
AA Change: T293M

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 damaging
Transcript: ENSMUST00000174770
AA Change: T293M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000134167
Gene: ENSMUSG00000027347
AA Change: T293M

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: T293M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000136423
Gene: ENSMUSG00000027347
AA Change: T293M

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: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cplane1	A	T	15: 8,271,749 (GRCm39)		probably benign	Het
Cyp2c68	T	A	19: 39,722,788 (GRCm39)	E253D	probably benign	Het
Gbp2b	A	G	3: 142,309,381 (GRCm39)	D164G	probably benign	Het
Gm10717	C	T	9: 3,025,616 (GRCm39)	S67L	probably benign	Het
Gm21738	G	A	14: 19,416,979 (GRCm38)	S144L	probably benign	Het
Lct	G	T	1: 128,235,342 (GRCm39)	T555N	probably damaging	Het
Ncam2	T	A	16: 81,386,587 (GRCm39)	H655Q	possibly damaging	Het
Or52a24	A	T	7: 103,381,687 (GRCm39)	M185L	possibly damaging	Het
Or8b57	C	A	9: 40,004,114 (GRCm39)	L45F	probably damaging	Het
Pglyrp4	A	G	3: 90,646,348 (GRCm39)	N293S	probably benign	Het
Pofut2	C	A	10: 77,101,717 (GRCm39)	D251E	probably benign	Het
Prdm2	T	C	4: 142,860,974 (GRCm39)	E772G	probably damaging	Het
Prkd3	A	T	17: 79,279,930 (GRCm39)	D254E	probably benign	Het
Prr36	G	A	8: 4,265,243 (GRCm39)	P169L	probably damaging	Het
Pwp2	T	C	10: 78,014,841 (GRCm39)	Y381C	probably damaging	Het
Snd1	G	A	6: 28,888,123 (GRCm39)		probably null	Het
Suclg2	A	T	6: 95,556,169 (GRCm39)	D237E	probably damaging	Het
Tenm3	T	C	8: 48,729,431 (GRCm39)	N1509S	probably benign	Het
Thbd	A	T	2: 148,248,988 (GRCm39)	H293Q	possibly damaging	Het
Tie1	T	A	4: 118,333,115 (GRCm39)	Y871F	probably benign	Het
Vmn1r38	A	T	6: 66,753,360 (GRCm39)	V252D	probably benign	Het
Vmn1r60	C	A	7: 5,547,309 (GRCm39)	V264F	probably benign	Het
Vmn1r68	T	C	7: 10,261,334 (GRCm39)	T255A	possibly damaging	Het
Vmn2r49	A	T	7: 9,718,690 (GRCm39)	V458E	probably benign	Het
Vmn2r9	A	T	5: 108,995,700 (GRCm39)	V316D	probably damaging	Het
Wfdc15b	A	T	2: 164,057,388 (GRCm39)	M1K	probably null	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
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

2014-05-07