Incidental Mutation 'IGL02974:Rapgef1'
ID406266
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rapgef1
Ensembl Gene ENSMUSG00000039844
Gene NameRap guanine nucleotide exchange factor (GEF) 1
SynonymsGrf2, 4932418O06Rik, C3G
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02974
Quality Score
Status
Chromosome2
Chromosomal Location29619720-29740978 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 29710216 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 611 (F611L)
Ref Sequence ENSEMBL: ENSMUSP00000121615 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091146] [ENSMUST00000095087] [ENSMUST00000102872] [ENSMUST00000147755]
Predicted Effect probably benign
Transcript: ENSMUST00000091146
AA Change: F612L

PolyPhen 2 Score 0.387 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000088680
Gene: ENSMUSG00000039844
AA Change: F612L

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 probably benign
Transcript: ENSMUST00000095087
AA Change: F650L

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000092703
Gene: ENSMUSG00000039844
AA Change: F650L

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 benign
Transcript: ENSMUST00000102872
SMART Domains Protein: ENSMUSP00000099936
Gene: ENSMUSG00000039844

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 unknown
Transcript: ENSMUST00000147488
AA Change: F154L
SMART Domains Protein: ENSMUSP00000117631
Gene: ENSMUSG00000039844
AA Change: F154L

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 possibly damaging
Transcript: ENSMUST00000147755
AA Change: F611L

PolyPhen 2 Score 0.637 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000121615
Gene: ENSMUSG00000039844
AA Change: F611L

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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730480H06Rik C T 5: 48,388,137 T242M probably damaging Het
Abcg3 A T 5: 104,968,263 I235N probably damaging Het
Agbl3 T C 6: 34,799,822 L416S probably damaging Het
Alcam T C 16: 52,295,716 D165G probably benign Het
Aldh18a1 T A 19: 40,569,084 I341F probably damaging Het
Amn T C 12: 111,271,141 V7A probably benign Het
Apc C T 18: 34,268,383 probably benign Het
Arg2 T C 12: 79,150,792 Y195H probably damaging Het
Bdp1 A T 13: 100,055,292 M22K probably benign Het
Cacna1s T G 1: 136,092,617 N797K possibly damaging Het
Chd8 T A 14: 52,201,701 probably null Het
Clstn2 G A 9: 97,532,707 T378M probably damaging Het
Elf2 A G 3: 51,257,689 V298A probably damaging Het
Fbn1 C T 2: 125,346,330 D1530N probably null Het
Fcrls A T 3: 87,257,397 I274N possibly damaging Het
Fmo3 C T 1: 162,983,050 E24K probably damaging Het
Fndc3b A T 3: 27,488,276 N408K probably damaging Het
Foxn2 A T 17: 88,463,115 N130I probably damaging Het
Fscb T A 12: 64,471,525 I1056F unknown Het
Gimap5 A C 6: 48,753,377 T294P possibly damaging Het
Gm20489 T C X: 101,263,714 Q11R probably damaging Het
Gpr3 T C 4: 133,210,909 T151A possibly damaging Het
Gzmc T A 14: 56,233,994 H30L probably damaging Het
Ints6l C A X: 56,506,936 S845Y probably benign Het
Iqcf3 A T 9: 106,553,645 C101* probably null Het
Krt82 G A 15: 101,550,585 Q7* probably null Het
L3mbtl1 A T 2: 162,970,183 H716L possibly damaging Het
Lefty1 C A 1: 180,935,277 H56Q probably benign Het
Lrp1 T C 10: 127,555,016 Y3004C probably damaging Het
Lrp10 C A 14: 54,467,884 S177* probably null Het
Naa15 A G 3: 51,461,207 K576R possibly damaging Het
Naip2 A G 13: 100,161,678 S617P probably damaging Het
Olfm1 T G 2: 28,229,689 N445K probably damaging Het
Olfr1187-ps1 C T 2: 88,540,235 silent Het
Olfr1449 T G 19: 12,935,035 V99G probably benign Het
Ostm1 T A 10: 42,683,162 N139K probably damaging Het
Ovol1 A G 19: 5,551,149 Y205H probably damaging Het
Pappa C T 4: 65,204,935 L836F probably damaging Het
Pcdhb15 C A 18: 37,475,014 T433N probably damaging Het
Ppfia2 A G 10: 106,800,776 K229E probably benign Het
Ppm1b T A 17: 84,993,824 V44E possibly damaging Het
Rev3l T A 10: 39,862,747 Y2832* probably null Het
Robo1 T A 16: 73,006,862 Y1099N probably benign Het
Sf3b1 T C 1: 55,007,707 H226R probably benign Het
Slc26a4 C T 12: 31,529,554 V570I probably damaging Het
Slc27a1 C A 8: 71,584,203 A361D probably damaging Het
Srp68 T C 11: 116,246,225 N549D probably benign Het
Terb1 G T 8: 104,494,968 S202* probably null Het
Tmc1 T A 19: 20,900,844 M96L probably benign Het
Tmprss11d A G 5: 86,306,376 V190A probably damaging Het
Ttll6 G A 11: 96,156,702 C709Y probably benign Het
Uba1 A G X: 20,678,720 H712R probably benign Het
Unc80 A C 1: 66,525,658 T835P possibly damaging Het
Vmn2r14 G A 5: 109,221,426 P94S possibly damaging Het
Yes1 C T 5: 32,660,768 A383V probably damaging Het
Other mutations in Rapgef1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00156:Rapgef1 APN 2 29722269 missense probably benign
IGL00917:Rapgef1 APN 2 29702523 missense probably benign 0.00
IGL02618:Rapgef1 APN 2 29737943 missense probably damaging 1.00
IGL02642:Rapgef1 APN 2 29700860 splice site probably benign
R0034:Rapgef1 UTSW 2 29724768 splice site probably benign
R0034:Rapgef1 UTSW 2 29724768 splice site probably benign
R0241:Rapgef1 UTSW 2 29702670 missense possibly damaging 0.53
R0241:Rapgef1 UTSW 2 29702670 missense possibly damaging 0.53
R0279:Rapgef1 UTSW 2 29726227 missense probably damaging 1.00
R0432:Rapgef1 UTSW 2 29679816 missense possibly damaging 0.86
R1817:Rapgef1 UTSW 2 29686256 missense probably damaging 1.00
R1837:Rapgef1 UTSW 2 29737426 missense probably damaging 1.00
R1970:Rapgef1 UTSW 2 29733711 missense probably damaging 1.00
R1980:Rapgef1 UTSW 2 29722227 missense probably benign
R2076:Rapgef1 UTSW 2 29702508 missense probably benign 0.00
R2363:Rapgef1 UTSW 2 29736596 missense possibly damaging 0.63
R3016:Rapgef1 UTSW 2 29707393 missense probably damaging 1.00
R3053:Rapgef1 UTSW 2 29724856 missense probably damaging 1.00
R3777:Rapgef1 UTSW 2 29719689 missense possibly damaging 0.67
R3980:Rapgef1 UTSW 2 29719650 missense probably benign 0.33
R4491:Rapgef1 UTSW 2 29719656 missense possibly damaging 0.93
R4524:Rapgef1 UTSW 2 29679246 missense probably benign 0.00
R4732:Rapgef1 UTSW 2 29689160 missense probably damaging 1.00
R4733:Rapgef1 UTSW 2 29689160 missense probably damaging 1.00
R5391:Rapgef1 UTSW 2 29737965 missense probably damaging 1.00
R5395:Rapgef1 UTSW 2 29737965 missense probably damaging 1.00
R5611:Rapgef1 UTSW 2 29702436 missense probably damaging 0.96
R6062:Rapgef1 UTSW 2 29700732 missense probably damaging 0.96
R6145:Rapgef1 UTSW 2 29736666 missense probably damaging 1.00
R6580:Rapgef1 UTSW 2 29730609 missense possibly damaging 0.95
R6892:Rapgef1 UTSW 2 29699840 critical splice donor site probably null
R6897:Rapgef1 UTSW 2 29702502 missense probably damaging 1.00
R6957:Rapgef1 UTSW 2 29733698 missense possibly damaging 0.62
R7039:Rapgef1 UTSW 2 29726214 missense probably damaging 0.97
R7149:Rapgef1 UTSW 2 29720700 missense probably damaging 0.98
R7253:Rapgef1 UTSW 2 29699721 missense possibly damaging 0.72
R7315:Rapgef1 UTSW 2 29734492 missense probably damaging 0.98
R7956:Rapgef1 UTSW 2 29699015 missense probably benign 0.03
R8161:Rapgef1 UTSW 2 29679198 missense probably benign 0.08
R8162:Rapgef1 UTSW 2 29735999 missense probably damaging 0.99
R8372:Rapgef1 UTSW 2 29710231 missense probably damaging 0.99
R8373:Rapgef1 UTSW 2 29710231 missense probably damaging 0.99
RF005:Rapgef1 UTSW 2 29707195 splice site probably null
Posted On2016-08-02