Incidental Mutation 'IGL02642:Rapgef1'
ID301795
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 #IGL02642
Quality Score
Status
Chromosome2
Chromosomal Location29619720-29740978 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to C at 29700860 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000121615 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091146] [ENSMUST00000095087] [ENSMUST00000102872] [ENSMUST00000147755]
Predicted Effect probably benign
Transcript: ENSMUST00000091146
SMART Domains Protein: ENSMUSP00000088680
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 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
SMART Domains Protein: ENSMUSP00000092703
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
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 probably benign
Transcript: ENSMUST00000147488
SMART Domains Protein: ENSMUSP00000117631
Gene: ENSMUSG00000039844

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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadm T C 3: 153,939,083 D68G probably damaging Het
Aes A T 10: 81,561,292 Q34L possibly damaging Het
Amer3 A G 1: 34,586,680 probably benign Het
Ankrd11 A G 8: 122,890,651 L2133P probably damaging Het
Bcdin3d G T 15: 99,470,792 H175Q probably damaging Het
Brd8 C A 18: 34,608,064 probably benign Het
C1rl C A 6: 124,493,847 T38N possibly damaging Het
Cd160 T C 3: 96,800,611 T140A probably benign Het
Cdk16 T G X: 20,696,928 D381E probably benign Het
Cpq G A 15: 33,381,400 G303D probably damaging Het
Dmp1 T C 5: 104,211,670 S71P probably damaging Het
Enc1 A C 13: 97,245,534 D184A possibly damaging Het
Enkur T C 2: 21,194,387 D112G probably benign Het
Esrra A T 19: 6,912,850 V59E possibly damaging Het
F830016B08Rik A G 18: 60,299,986 N47S probably benign Het
Fads1 T A 19: 10,186,421 V189D probably damaging Het
Fam160b1 A G 19: 57,385,350 N681D possibly damaging Het
Fam167a T A 14: 63,452,272 I6N probably damaging Het
Fam98b A G 2: 117,260,312 T164A probably benign Het
Fryl T A 5: 73,095,466 I953L probably benign Het
Gm10610 T A 7: 83,549,605 noncoding transcript Het
Grik5 G T 7: 25,058,983 N338K possibly damaging Het
Gstt2 A G 10: 75,832,818 I72T probably benign Het
Gusb T C 5: 130,000,535 probably null Het
Hccs A G X: 169,315,592 probably benign Het
Hoxb4 A G 11: 96,320,224 K217E probably damaging Het
Hpd C T 5: 123,181,440 V22I possibly damaging Het
Ighv1-47 A G 12: 114,991,224 Y79H probably damaging Het
Il7r C A 15: 9,513,047 probably benign Het
Lama1 A T 17: 67,812,366 M2613L probably benign Het
Lama2 G A 10: 27,467,273 H68Y probably damaging Het
Lce1c C A 3: 92,680,538 probably benign Het
Lmx1a G T 1: 167,844,623 probably benign Het
Lrfn1 T C 7: 28,458,688 probably benign Het
Lrriq1 T A 10: 103,221,461 probably null Het
Mri1 A T 8: 84,257,073 L63Q probably damaging Het
Mrps11 G T 7: 78,788,774 probably null Het
Mtif2 C A 11: 29,544,395 Q666K probably benign Het
Mtr A T 13: 12,195,232 probably benign Het
Mug1 A G 6: 121,882,585 N1181S probably benign Het
Myom1 A T 17: 71,101,098 E1209V possibly damaging Het
Nhsl1 A G 10: 18,408,390 I26M possibly damaging Het
Nlrp1a T A 11: 71,123,532 K297N probably benign Het
Obox5 T C 7: 15,758,047 V129A probably benign Het
Pex16 C T 2: 92,376,636 A53V probably damaging Het
Pfpl T C 19: 12,429,743 F453L probably damaging Het
Pip5k1b G T 19: 24,346,367 H406N probably benign Het
Pip5k1c C A 10: 81,317,321 probably null Het
Plcxd3 T C 15: 4,516,640 F42S possibly damaging Het
Pnpla7 T C 2: 25,050,276 F1056L probably benign Het
Rdh11 G A 12: 79,185,336 probably benign Het
Serac1 A G 17: 6,045,746 F576S possibly damaging Het
Slc45a4 A T 15: 73,586,815 M295K probably benign Het
Taf1c T C 8: 119,599,057 T689A probably benign Het
Timm10b G T 7: 105,668,438 probably benign Het
Tnc A T 4: 63,965,579 probably benign Het
Toporsl T C 4: 52,611,114 W336R probably benign Het
Usp54 C A 14: 20,565,072 probably benign Het
Vmn1r233 T C 17: 20,994,029 R220G 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
IGL02974:Rapgef1 APN 2 29710216 missense possibly damaging 0.64
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 On2015-04-16