Incidental Mutation 'IGL02618:Rapgef1'
ID 300735
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rapgef1
Ensembl Gene ENSMUSG00000039844
Gene Name Rap guanine nucleotide exchange factor (GEF) 1
Synonyms C3G, Grf2, 4932418O06Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02618
Quality Score
Status
Chromosome 2
Chromosomal Location 29509732-29630376 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 29627955 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 1045 (D1045G)
Ref Sequence ENSEMBL: ENSMUSP00000099936 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091146] [ENSMUST00000095087] [ENSMUST00000102872] [ENSMUST00000147755]
AlphaFold Q3UHC1
Predicted Effect noncoding transcript
Transcript: ENSMUST00000051212
Predicted Effect possibly damaging
Transcript: ENSMUST00000091146
AA Change: D1177G

PolyPhen 2 Score 0.577 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000088680
Gene: ENSMUSG00000039844
AA Change: D1177G

DomainStartEndE-ValueType
low complexity region 191 206 N/A INTRINSIC
low complexity region 309 324 N/A INTRINSIC
low complexity region 468 478 N/A INTRINSIC
low complexity region 510 521 N/A INTRINSIC
low complexity region 592 603 N/A INTRINSIC
low complexity region 664 682 N/A INTRINSIC
low complexity region 689 700 N/A INTRINSIC
low complexity region 727 741 N/A INTRINSIC
RasGEFN 828 970 8.04e-37 SMART
RasGEF 977 1206 5.85e-102 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000095087
AA Change: D1183G

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000092703
Gene: ENSMUSG00000039844
AA Change: D1183G

DomainStartEndE-ValueType
low complexity region 229 244 N/A INTRINSIC
low complexity region 347 362 N/A INTRINSIC
low complexity region 506 516 N/A INTRINSIC
low complexity region 548 559 N/A INTRINSIC
low complexity region 630 641 N/A INTRINSIC
low complexity region 702 720 N/A INTRINSIC
low complexity region 727 738 N/A INTRINSIC
RasGEFN 834 976 8.04e-37 SMART
RasGEF 983 1212 5.85e-102 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000102872
AA Change: D1045G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000099936
Gene: ENSMUSG00000039844
AA Change: D1045G

DomainStartEndE-ValueType
low complexity region 229 244 N/A INTRINSIC
low complexity region 347 362 N/A INTRINSIC
low complexity region 506 516 N/A INTRINSIC
low complexity region 548 559 N/A INTRINSIC
RasGEFN 696 838 8.04e-37 SMART
RasGEF 845 1074 5.85e-102 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123953
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137719
Predicted Effect unknown
Transcript: ENSMUST00000147488
AA Change: D601G
SMART Domains Protein: ENSMUSP00000117631
Gene: ENSMUSG00000039844
AA Change: D601G

DomainStartEndE-ValueType
low complexity region 12 22 N/A INTRINSIC
low complexity region 54 65 N/A INTRINSIC
low complexity region 135 146 N/A INTRINSIC
RasGEFN 253 395 8.04e-37 SMART
RasGEF 402 631 5.85e-102 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000147755
SMART Domains Protein: ENSMUSP00000121615
Gene: ENSMUSG00000039844

DomainStartEndE-ValueType
low complexity region 191 206 N/A INTRINSIC
low complexity region 309 324 N/A INTRINSIC
low complexity region 468 478 N/A INTRINSIC
low complexity region 510 521 N/A INTRINSIC
low complexity region 591 602 N/A INTRINSIC
low complexity region 663 681 N/A INTRINSIC
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 encodes a human guanine nucleotide exchange factor. It transduces signals from CRK by binding the SH3 domain of CRK, and activating several members of the Ras family of GTPases. This signaling cascade that may be involved in apoptosis, integrin-mediated signal transduction, and cell transformation. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some variants has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele die before E7.5. Mice homozygous for a hypomorphic gene trap allele show embryonic lethality during organogenesis, altered neuroepithelium morphology, vascular maturation defects, hemorrhage, and reduced cell migration and adhesion. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700097O09Rik G A 12: 55,104,086 (GRCm39) Q178* probably null Het
Adgre1 T A 17: 57,751,021 (GRCm39) V565E possibly damaging Het
Arfgef2 C A 2: 166,695,233 (GRCm39) N535K probably damaging Het
Bbx A G 16: 50,068,161 (GRCm39) L161S probably damaging Het
Bclaf1 T C 10: 20,199,274 (GRCm39) S224P probably damaging Het
Car2 A G 3: 14,963,032 (GRCm39) D189G probably benign Het
Catsperb A T 12: 101,446,983 (GRCm39) probably benign Het
Ccdc88c C T 12: 100,879,812 (GRCm39) V1770I probably benign Het
Cebpe T C 14: 54,948,234 (GRCm39) D203G probably damaging Het
Chn2 A G 6: 54,197,422 (GRCm39) N104S probably damaging Het
Clec2i G A 6: 128,873,464 (GRCm39) C231Y probably damaging Het
Col4a5 C T X: 140,466,678 (GRCm39) P1557S probably damaging Het
Creb3l1 T C 2: 91,813,543 (GRCm39) N498S probably benign Het
Ctnnal1 A T 4: 56,817,060 (GRCm39) D587E probably benign Het
Dnmt3l T C 10: 77,889,856 (GRCm39) probably benign Het
Dock7 A G 4: 98,971,265 (GRCm39) V100A probably benign Het
Frk C T 10: 34,459,960 (GRCm39) T185I possibly damaging Het
Frmd4b G A 6: 97,285,066 (GRCm39) Q340* probably null Het
Lima1 C A 15: 99,700,097 (GRCm39) probably benign Het
Mtcl2 A G 2: 156,882,486 (GRCm39) L522P probably damaging Het
Ndrg1 G A 15: 66,812,086 (GRCm39) H202Y probably benign Het
Nxpe2 T G 9: 48,237,634 (GRCm39) N207T probably damaging Het
Or5ac19 A T 16: 59,089,290 (GRCm39) S247T probably damaging Het
Pdzph1 T C 17: 59,186,068 (GRCm39) probably benign Het
Pinx1 A G 14: 64,105,969 (GRCm39) D75G probably damaging Het
Plxdc1 A T 11: 97,823,130 (GRCm39) D370E probably benign Het
Polb A T 8: 23,127,109 (GRCm39) L228Q probably damaging Het
Rab3gap2 T A 1: 184,983,938 (GRCm39) I521N possibly damaging Het
Rbks A T 5: 31,781,863 (GRCm39) Y312* probably null Het
Ror2 C T 13: 53,264,764 (GRCm39) S764N probably damaging Het
Src A T 2: 157,306,698 (GRCm39) K234* probably null Het
Stk36 C A 1: 74,670,834 (GRCm39) probably benign Het
Ttll6 G T 11: 96,038,388 (GRCm39) C412F probably benign Het
Zfp58 A G 13: 67,639,475 (GRCm39) F339L possibly damaging Het
Other mutations in Rapgef1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00156:Rapgef1 APN 2 29,612,281 (GRCm39) missense probably benign
IGL00917:Rapgef1 APN 2 29,592,535 (GRCm39) missense probably benign 0.00
IGL02642:Rapgef1 APN 2 29,590,872 (GRCm39) splice site probably benign
IGL02974:Rapgef1 APN 2 29,600,228 (GRCm39) missense possibly damaging 0.64
R0034:Rapgef1 UTSW 2 29,614,780 (GRCm39) splice site probably benign
R0034:Rapgef1 UTSW 2 29,614,780 (GRCm39) splice site probably benign
R0241:Rapgef1 UTSW 2 29,592,682 (GRCm39) missense possibly damaging 0.53
R0241:Rapgef1 UTSW 2 29,592,682 (GRCm39) missense possibly damaging 0.53
R0279:Rapgef1 UTSW 2 29,616,239 (GRCm39) missense probably damaging 1.00
R0432:Rapgef1 UTSW 2 29,569,828 (GRCm39) missense possibly damaging 0.86
R1817:Rapgef1 UTSW 2 29,576,268 (GRCm39) missense probably damaging 1.00
R1837:Rapgef1 UTSW 2 29,627,438 (GRCm39) missense probably damaging 1.00
R1970:Rapgef1 UTSW 2 29,623,723 (GRCm39) missense probably damaging 1.00
R1980:Rapgef1 UTSW 2 29,612,239 (GRCm39) missense probably benign
R2076:Rapgef1 UTSW 2 29,592,520 (GRCm39) missense probably benign 0.00
R2363:Rapgef1 UTSW 2 29,626,608 (GRCm39) missense possibly damaging 0.63
R3016:Rapgef1 UTSW 2 29,597,405 (GRCm39) missense probably damaging 1.00
R3053:Rapgef1 UTSW 2 29,614,868 (GRCm39) missense probably damaging 1.00
R3777:Rapgef1 UTSW 2 29,609,701 (GRCm39) missense possibly damaging 0.67
R3980:Rapgef1 UTSW 2 29,609,662 (GRCm39) missense probably benign 0.33
R4491:Rapgef1 UTSW 2 29,609,668 (GRCm39) missense possibly damaging 0.93
R4524:Rapgef1 UTSW 2 29,569,258 (GRCm39) missense probably benign 0.00
R4732:Rapgef1 UTSW 2 29,579,172 (GRCm39) missense probably damaging 1.00
R4733:Rapgef1 UTSW 2 29,579,172 (GRCm39) missense probably damaging 1.00
R5391:Rapgef1 UTSW 2 29,627,977 (GRCm39) missense probably damaging 1.00
R5395:Rapgef1 UTSW 2 29,627,977 (GRCm39) missense probably damaging 1.00
R5611:Rapgef1 UTSW 2 29,592,448 (GRCm39) missense probably damaging 0.96
R6062:Rapgef1 UTSW 2 29,590,744 (GRCm39) missense probably damaging 0.96
R6145:Rapgef1 UTSW 2 29,626,678 (GRCm39) missense probably damaging 1.00
R6580:Rapgef1 UTSW 2 29,620,621 (GRCm39) missense possibly damaging 0.95
R6892:Rapgef1 UTSW 2 29,589,852 (GRCm39) critical splice donor site probably null
R6897:Rapgef1 UTSW 2 29,592,514 (GRCm39) missense probably damaging 1.00
R6957:Rapgef1 UTSW 2 29,623,710 (GRCm39) missense possibly damaging 0.62
R7039:Rapgef1 UTSW 2 29,616,226 (GRCm39) missense probably damaging 0.97
R7149:Rapgef1 UTSW 2 29,610,712 (GRCm39) missense probably damaging 0.98
R7253:Rapgef1 UTSW 2 29,589,733 (GRCm39) missense possibly damaging 0.72
R7315:Rapgef1 UTSW 2 29,624,504 (GRCm39) missense probably damaging 0.98
R7956:Rapgef1 UTSW 2 29,589,027 (GRCm39) missense probably benign 0.03
R8161:Rapgef1 UTSW 2 29,569,210 (GRCm39) missense probably benign 0.08
R8162:Rapgef1 UTSW 2 29,626,011 (GRCm39) missense probably damaging 0.99
R8372:Rapgef1 UTSW 2 29,600,243 (GRCm39) missense probably damaging 0.99
R8373:Rapgef1 UTSW 2 29,600,243 (GRCm39) missense probably damaging 0.99
R8485:Rapgef1 UTSW 2 29,600,186 (GRCm39) missense probably damaging 1.00
R8838:Rapgef1 UTSW 2 29,627,458 (GRCm39) missense possibly damaging 0.77
R9484:Rapgef1 UTSW 2 29,625,821 (GRCm39) missense possibly damaging 0.95
R9521:Rapgef1 UTSW 2 29,624,291 (GRCm39) missense probably benign 0.16
RF005:Rapgef1 UTSW 2 29,597,207 (GRCm39) splice site probably null
Posted On 2015-04-16