Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01083:Rasgrp1'

50446

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 #

IGL01083

Quality Score

Status

Chromosome

Chromosomal Location

117110464-117173358 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 117115549 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 680 (W680R)

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: W680R

PolyPhen 2 Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000099593
Gene: ENSMUSG00000027347
AA Change: W680R

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: W645R

PolyPhen 2 Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000134027
Gene: ENSMUSG00000027347
AA Change: W645R

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: W680R

PolyPhen 2 Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000136423
Gene: ENSMUSG00000027347
AA Change: W680R

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy8	T	C	15: 64,659,191 (GRCm39)	D533G	probably benign	Het
Adgb	A	G	10: 10,283,298 (GRCm39)	V136A	possibly damaging	Het
Aggf1	A	G	13: 95,492,917 (GRCm39)	V564A	probably damaging	Het
Atp1a2	T	C	1: 172,112,186 (GRCm39)	T570A	probably benign	Het
Bicdl2	A	G	17: 23,887,105 (GRCm39)	Q464R	probably damaging	Het
Cacng5	C	T	11: 107,772,531 (GRCm39)	V106I	probably benign	Het
Chd8	C	A	14: 52,458,877 (GRCm39)	R792L	probably damaging	Het
Crybg2	A	T	4: 133,802,755 (GRCm39)	I844F	possibly damaging	Het
Dock4	G	A	12: 40,838,380 (GRCm39)		probably benign	Het
Ergic2	T	C	6: 148,096,769 (GRCm39)	T166A	probably benign	Het
Flrt2	A	T	12: 95,747,121 (GRCm39)	R486S	probably benign	Het
Flt3	T	C	5: 147,291,680 (GRCm39)	Y590C	probably damaging	Het
Fubp1	A	G	3: 151,927,871 (GRCm39)	E441G	probably damaging	Het
Gfpt1	A	G	6: 87,031,678 (GRCm39)	S107G	probably damaging	Het
Klra9	A	G	6: 130,166,729 (GRCm39)	L45P	possibly damaging	Het
Mfsd5	A	G	15: 102,189,525 (GRCm39)	Y299C	probably damaging	Het
Myo5b	T	A	18: 74,866,974 (GRCm39)		probably benign	Het
Obscn	G	A	11: 58,926,919 (GRCm39)	T5532M	probably damaging	Het
Or5ac25	G	A	16: 59,182,198 (GRCm39)	P128S	probably damaging	Het
Palld	A	G	8: 61,991,841 (GRCm39)	S165P	probably benign	Het
Pramel17	T	A	4: 101,692,729 (GRCm39)	M424L	probably benign	Het
Prokr1	A	T	6: 87,565,766 (GRCm39)	H26Q	probably benign	Het
Prrc2a	G	T	17: 35,375,177 (GRCm39)	R1158S	possibly damaging	Het
Ryr3	A	G	2: 112,582,191 (GRCm39)		probably benign	Het
Sars1	A	G	3: 108,334,174 (GRCm39)	L528P	probably damaging	Het
Serpinb3b	T	A	1: 107,085,473 (GRCm39)	L89F	possibly damaging	Het
Slc38a6	T	C	12: 73,335,267 (GRCm39)	V70A	possibly damaging	Het
Son	G	A	16: 91,454,279 (GRCm39)	E1009K	probably damaging	Het
Thoc3	A	C	13: 54,615,633 (GRCm39)		probably benign	Het
Tlk2	T	A	11: 105,112,050 (GRCm39)	C88S	probably benign	Het
Tmem182	T	A	1: 40,844,977 (GRCm39)	F21Y	probably damaging	Het
Tmem214	G	A	5: 31,033,437 (GRCm39)	V557M	probably benign	Het
Zfp507	T	C	7: 35,493,463 (GRCm39)	T527A	probably benign	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
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

2013-06-21