Incidental Mutation 'IGL01080:Rangap1'
ID52776
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rangap1
Ensembl Gene ENSMUSG00000022391
Gene NameRAN GTPase activating protein 1
SynonymsFug1
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01080
Quality Score
Status
Chromosome15
Chromosomal Location81704248-81745530 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) C to T at 81705752 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000130046 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052374] [ENSMUST00000170134] [ENSMUST00000171115]
Predicted Effect probably benign
Transcript: ENSMUST00000052374
SMART Domains Protein: ENSMUSP00000057771
Gene: ENSMUSG00000022391

DomainStartEndE-ValueType
LRR 48 75 3.34e-2 SMART
LRR 111 138 4.79e-3 SMART
LRR 141 168 8.34e-3 SMART
Blast:LRR 179 206 6e-8 BLAST
LRR 207 234 9.24e1 SMART
LRR 235 262 1.13e-4 SMART
LRR 263 290 8.37e1 SMART
LRR 292 319 4.74e0 SMART
LRR 320 347 3.21e-4 SMART
low complexity region 359 399 N/A INTRINSIC
Pfam:RanGAP1_C 407 587 5.9e-79 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000170134
SMART Domains Protein: ENSMUSP00000126849
Gene: ENSMUSG00000022391

DomainStartEndE-ValueType
LRR 48 75 3.34e-2 SMART
LRR 111 138 4.79e-3 SMART
LRR 141 168 8.34e-3 SMART
Blast:LRR 179 206 6e-8 BLAST
LRR 207 234 9.24e1 SMART
LRR 235 262 1.13e-4 SMART
LRR 263 290 8.37e1 SMART
LRR 292 319 4.74e0 SMART
LRR 320 347 3.21e-4 SMART
low complexity region 359 399 N/A INTRINSIC
Pfam:RanGAP1_C 406 588 7.4e-92 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000171115
SMART Domains Protein: ENSMUSP00000130046
Gene: ENSMUSG00000022391

DomainStartEndE-ValueType
LRR 48 75 3.34e-2 SMART
LRR 111 138 4.79e-3 SMART
LRR 141 168 8.34e-3 SMART
Blast:LRR 179 206 6e-8 BLAST
LRR 207 234 9.24e1 SMART
LRR 235 262 1.13e-4 SMART
LRR 263 290 8.37e1 SMART
LRR 292 319 4.74e0 SMART
LRR 320 347 3.21e-4 SMART
low complexity region 359 399 N/A INTRINSIC
Pfam:RanGAP1_C 406 588 7.4e-92 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229705
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 protein that associates with the nuclear pore complex and participates in the regulation of nuclear transport. The encoded protein interacts with Ras-related nuclear protein 1 (RAN) and regulates guanosine triphosphate (GTP)-binding and exchange. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
PHENOTYPE: Homozygous mutation of this gene results in embryo arrest at the egg cylinder stage and lethality by E8.5. The appearance of the proamniotic cavity is delayed and epiblast cells surrounding the cavity are disorganized. Mesoderm and placental development is impaired. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb4 A T 5: 8,934,258 R663W probably damaging Het
Cacng5 A T 11: 107,877,928 F179L probably damaging Het
Cacng5 C T 11: 107,881,705 V106I probably benign Het
Cd96 T C 16: 46,049,693 E471G possibly damaging Het
Cpt1c T C 7: 44,960,909 D621G probably damaging Het
Csmd3 T C 15: 47,881,403 I1503V probably benign Het
Dmgdh T C 13: 93,703,778 probably benign Het
Flg A T 3: 93,279,599 K119N probably benign Het
Gale T C 4: 135,966,078 Y104H probably damaging Het
Gm8005 T C 14: 42,437,014 D119G unknown Het
Gstk1 A T 6: 42,246,626 D50V possibly damaging Het
Kmt2a T C 9: 44,809,092 D3866G unknown Het
Mastl A G 2: 23,146,148 S119P probably damaging Het
Olfr169 A T 16: 19,566,208 V225E probably damaging Het
Phf11c G A 14: 59,393,199 T19I probably benign Het
Ppp1r16b A G 2: 158,757,172 T355A probably damaging Het
Prmt7 T G 8: 106,237,214 probably benign Het
Rad50 T C 11: 53,706,068 T44A probably damaging Het
Slc27a3 A T 3: 90,385,460 V634E probably benign Het
Tbxas1 T A 6: 39,021,181 L228I probably damaging Het
Tnfaip3 T C 10: 19,011,655 K41E probably benign Het
Tti1 C T 2: 157,982,459 V1025I probably damaging Het
Tyrobp T C 7: 30,417,416 probably null Het
Wfdc16 A T 2: 164,638,486 W30R probably damaging Het
Zyg11b A T 4: 108,237,416 L657Q probably damaging Het
Other mutations in Rangap1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00423:Rangap1 APN 15 81721993 missense probably benign 0.04
IGL01608:Rangap1 APN 15 81709504 missense probably benign 0.00
IGL01939:Rangap1 APN 15 81720663 missense probably damaging 0.97
IGL03163:Rangap1 APN 15 81716600 missense probably damaging 1.00
R0413:Rangap1 UTSW 15 81716675 frame shift probably null
R0423:Rangap1 UTSW 15 81705463 missense probably damaging 1.00
R0843:Rangap1 UTSW 15 81710502 missense probably benign
R1960:Rangap1 UTSW 15 81706503 missense probably benign 0.00
R3687:Rangap1 UTSW 15 81718762 missense possibly damaging 0.76
R3688:Rangap1 UTSW 15 81718762 missense possibly damaging 0.76
R3713:Rangap1 UTSW 15 81710460 missense probably benign 0.00
R3715:Rangap1 UTSW 15 81710460 missense probably benign 0.00
R4727:Rangap1 UTSW 15 81729755 intron probably benign
R4755:Rangap1 UTSW 15 81712917 missense probably benign 0.00
R5051:Rangap1 UTSW 15 81710463 missense probably benign 0.00
R5088:Rangap1 UTSW 15 81710463 missense probably benign 0.00
R5089:Rangap1 UTSW 15 81710463 missense probably benign 0.00
R5374:Rangap1 UTSW 15 81706494 missense probably benign 0.01
R5391:Rangap1 UTSW 15 81706446 missense probably benign 0.01
R5395:Rangap1 UTSW 15 81706446 missense probably benign 0.01
R6439:Rangap1 UTSW 15 81712135 missense probably benign
R8083:Rangap1 UTSW 15 81718900 missense probably benign 0.02
Posted On2013-06-21