Incidental Mutation 'R0413:Rangap1'
ID 66340
Institutional Source Beutler Lab
Gene Symbol Rangap1
Ensembl Gene ENSMUSG00000022391
Gene Name RAN GTPase activating protein 1
Synonyms Fug1
MMRRC Submission 038615-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0413 (G1)
Quality Score 179
Status Not validated
Chromosome 15
Chromosomal Location 81588449-81614120 bp(-) (GRCm39)
Type of Mutation frame shift
DNA Base Change (assembly) ACACTCA to ACA at 81600876 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000155198 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052374] [ENSMUST00000170134] [ENSMUST00000171115] [ENSMUST00000230302] [ENSMUST00000230726]
AlphaFold P46061
Predicted Effect probably null
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 null
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 null
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: ENSMUST00000230287
Predicted Effect probably null
Transcript: ENSMUST00000230302
Predicted Effect probably benign
Transcript: ENSMUST00000230726
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.9%
Validation Efficiency 99% (99/100)
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: 97 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 A G 2: 69,158,355 (GRCm39) probably benign Het
Adh1 C T 3: 137,986,193 (GRCm39) T60I probably benign Het
Agtpbp1 T A 13: 59,661,966 (GRCm39) I282F probably damaging Het
Arih2 G T 9: 108,493,916 (GRCm39) Q166K probably damaging Het
Cacna1s A G 1: 136,025,947 (GRCm39) T1031A probably benign Het
Ccdc102a C A 8: 95,629,914 (GRCm39) E542D probably benign Het
Cdk1 T C 10: 69,180,929 (GRCm39) I94V probably benign Het
Cep290 C T 10: 100,359,176 (GRCm39) Q969* probably null Het
Cilp2 A G 8: 70,335,643 (GRCm39) S452P probably benign Het
Col12a1 T C 9: 79,606,642 (GRCm39) T594A probably damaging Het
Cpox A G 16: 58,491,232 (GRCm39) T148A possibly damaging Het
Csf3r A G 4: 125,933,460 (GRCm39) probably benign Het
Csmd1 A T 8: 16,760,530 (GRCm39) C202S probably damaging Het
Dlgap4 T C 2: 156,604,746 (GRCm39) S261P probably damaging Het
Dnah9 T A 11: 65,998,961 (GRCm39) Y1029F probably damaging Het
Dok5 T C 2: 170,671,880 (GRCm39) probably benign Het
Dusp11 A T 6: 85,929,352 (GRCm39) probably benign Het
Edar T C 10: 58,465,262 (GRCm39) N34D probably benign Het
Efcab7 C T 4: 99,766,943 (GRCm39) T56I probably damaging Het
Entpd1 G A 19: 40,699,729 (GRCm39) V47I probably benign Het
Ephx4 A G 5: 107,551,601 (GRCm39) N62S probably benign Het
Etaa1 A T 11: 17,896,350 (GRCm39) L589* probably null Het
Fam135b T A 15: 71,335,670 (GRCm39) N508I probably benign Het
Fam193a T C 5: 34,623,552 (GRCm39) V27A possibly damaging Het
Fmnl1 A G 11: 103,084,889 (GRCm39) probably benign Het
Fstl1 A C 16: 37,641,516 (GRCm39) probably null Het
Gbp4 G A 5: 105,268,972 (GRCm39) R394C possibly damaging Het
Gemin4 T C 11: 76,102,148 (GRCm39) Y871C probably benign Het
Get1 T G 16: 95,954,217 (GRCm39) S105R probably benign Het
Gm7247 T C 14: 51,760,929 (GRCm39) V166A probably benign Het
Gpcpd1 A T 2: 132,406,543 (GRCm39) probably benign Het
Gpnmb A G 6: 49,019,737 (GRCm39) D36G probably benign Het
Ido2 C T 8: 25,048,159 (GRCm39) probably null Het
Igfn1 G A 1: 135,895,334 (GRCm39) T1744I probably benign Het
Inf2 T G 12: 112,568,110 (GRCm39) F221V probably damaging Het
Itga10 T A 3: 96,556,375 (GRCm39) I170N probably damaging Het
Lrp6 A T 6: 134,484,587 (GRCm39) D345E probably damaging Het
Macf1 A T 4: 123,366,062 (GRCm39) S2900T probably benign Het
Med13 C A 11: 86,190,033 (GRCm39) probably benign Het
Morc3 T C 16: 93,667,362 (GRCm39) V507A probably damaging Het
Myadm AC ACC 7: 3,345,276 (GRCm39) probably null Het
Myl6 C T 10: 128,328,091 (GRCm39) probably benign Het
Mylk T C 16: 34,742,314 (GRCm39) V942A probably benign Het
Myorg G T 4: 41,498,585 (GRCm39) H348Q probably benign Het
Ncdn G T 4: 126,644,327 (GRCm39) T165K possibly damaging Het
Ncf1 T C 5: 134,251,656 (GRCm39) probably benign Het
Neb T C 2: 52,180,751 (GRCm39) probably benign Het
Nid1 T A 13: 13,656,681 (GRCm39) I604N probably benign Het
Nsrp1 T C 11: 76,936,997 (GRCm39) R400G probably benign Het
Nup43 T G 10: 7,546,791 (GRCm39) I137S probably benign Het
Nynrin A G 14: 56,109,648 (GRCm39) N1585S possibly damaging Het
Obscn T A 11: 58,893,823 (GRCm39) Y6748F probably benign Het
Omg A G 11: 79,393,661 (GRCm39) S66P possibly damaging Het
Or13a27 A T 7: 139,925,108 (GRCm39) S265T possibly damaging Het
Or2y1d T C 11: 49,322,212 (GRCm39) V303A possibly damaging Het
Or4c15 A G 2: 88,759,906 (GRCm39) V251A probably benign Het
Or51b6b A T 7: 103,309,957 (GRCm39) F167I possibly damaging Het
Or52z1 A G 7: 103,437,362 (GRCm39) Y41H probably damaging Het
Or5ak22 T C 2: 85,230,019 (GRCm39) N286S probably damaging Het
Or8g27 A G 9: 39,129,566 (GRCm39) I304M probably benign Het
Or8k24 G A 2: 86,216,058 (GRCm39) R235C probably benign Het
Ormdl1 C T 1: 53,347,978 (GRCm39) probably benign Het
Ovch2 T A 7: 107,381,243 (GRCm39) I552L probably benign Het
Pcare T G 17: 72,059,212 (GRCm39) D155A probably benign Het
Pcsk9 G T 4: 106,311,538 (GRCm39) T231N probably damaging Het
Pgpep1 T C 8: 71,110,100 (GRCm39) N22S probably damaging Het
Plb1 T C 5: 32,512,706 (GRCm39) F1355L probably damaging Het
Plcg1 G T 2: 160,603,349 (GRCm39) L1173F probably damaging Het
Plch2 A T 4: 155,091,373 (GRCm39) probably null Het
Ppp1r3g T A 13: 36,153,331 (GRCm39) F250L probably damaging Het
Prkcg A G 7: 3,368,095 (GRCm39) I381V probably benign Het
Pum2 C T 12: 8,763,464 (GRCm39) A207V probably benign Het
Rabac1 T C 7: 24,669,607 (GRCm39) E166G probably damaging Het
Rad21l G A 2: 151,493,851 (GRCm39) S450L probably benign Het
Reg3b G T 6: 78,348,824 (GRCm39) C40F probably damaging Het
Rfx2 A G 17: 57,091,418 (GRCm39) probably benign Het
Rrp15 G A 1: 186,481,346 (GRCm39) probably benign Het
Schip1 G T 3: 68,401,946 (GRCm39) G36C probably damaging Het
Sec61a2 A T 2: 5,881,165 (GRCm39) probably benign Het
Sema5a A G 15: 32,669,590 (GRCm39) K705E probably damaging Het
Setx A G 2: 29,029,290 (GRCm39) Y186C probably damaging Het
Slc22a23 T C 13: 34,367,115 (GRCm39) E631G probably damaging Het
Slc5a5 T C 8: 71,344,319 (GRCm39) T134A possibly damaging Het
Stx7 T C 10: 24,057,492 (GRCm39) S173P probably damaging Het
Sybu T C 15: 44,536,668 (GRCm39) T353A probably damaging Het
Syde2 T A 3: 145,712,887 (GRCm39) N1008K probably damaging Het
Tiam1 T C 16: 89,606,253 (GRCm39) probably benign Het
Timm10b G A 7: 105,327,537 (GRCm39) E61K probably benign Het
Tm2d1 A G 4: 98,253,810 (GRCm39) I121T probably damaging Het
Trim75 T C 8: 65,435,892 (GRCm39) E186G probably benign Het
Tti1 T C 2: 157,837,396 (GRCm39) K895E probably benign Het
Vmn1r43 A G 6: 89,846,830 (GRCm39) S219P probably damaging Het
Vmn2r73 A T 7: 85,521,087 (GRCm39) S294T possibly damaging Het
Vmn2r94 A T 17: 18,464,080 (GRCm39) F737I probably damaging Het
Vsx2 A T 12: 84,616,777 (GRCm39) T21S probably benign Het
Zfp462 G T 4: 55,010,534 (GRCm39) R833S probably damaging Het
Zfpl1 G A 19: 6,132,482 (GRCm39) P143L probably damaging Het
Other mutations in Rangap1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00423:Rangap1 APN 15 81,606,194 (GRCm39) missense probably benign 0.04
IGL01080:Rangap1 APN 15 81,589,953 (GRCm39) splice site probably benign
IGL01608:Rangap1 APN 15 81,593,705 (GRCm39) missense probably benign 0.00
IGL01939:Rangap1 APN 15 81,604,864 (GRCm39) missense probably damaging 0.97
IGL03163:Rangap1 APN 15 81,600,801 (GRCm39) missense probably damaging 1.00
R0423:Rangap1 UTSW 15 81,589,664 (GRCm39) missense probably damaging 1.00
R0843:Rangap1 UTSW 15 81,594,703 (GRCm39) missense probably benign
R1960:Rangap1 UTSW 15 81,590,704 (GRCm39) missense probably benign 0.00
R3687:Rangap1 UTSW 15 81,602,963 (GRCm39) missense possibly damaging 0.76
R3688:Rangap1 UTSW 15 81,602,963 (GRCm39) missense possibly damaging 0.76
R3713:Rangap1 UTSW 15 81,594,661 (GRCm39) missense probably benign 0.00
R3715:Rangap1 UTSW 15 81,594,661 (GRCm39) missense probably benign 0.00
R4727:Rangap1 UTSW 15 81,613,956 (GRCm39) intron probably benign
R4755:Rangap1 UTSW 15 81,597,118 (GRCm39) missense probably benign 0.00
R5051:Rangap1 UTSW 15 81,594,664 (GRCm39) missense probably benign 0.00
R5088:Rangap1 UTSW 15 81,594,664 (GRCm39) missense probably benign 0.00
R5089:Rangap1 UTSW 15 81,594,664 (GRCm39) missense probably benign 0.00
R5374:Rangap1 UTSW 15 81,590,695 (GRCm39) missense probably benign 0.01
R5391:Rangap1 UTSW 15 81,590,647 (GRCm39) missense probably benign 0.01
R5395:Rangap1 UTSW 15 81,590,647 (GRCm39) missense probably benign 0.01
R6439:Rangap1 UTSW 15 81,596,336 (GRCm39) missense probably benign
R8083:Rangap1 UTSW 15 81,603,101 (GRCm39) missense probably benign 0.02
R8161:Rangap1 UTSW 15 81,594,696 (GRCm39) missense probably benign 0.19
R8864:Rangap1 UTSW 15 81,610,270 (GRCm39) intron probably benign
R9320:Rangap1 UTSW 15 81,606,221 (GRCm39) missense probably benign 0.00
R9673:Rangap1 UTSW 15 81,590,637 (GRCm39) missense probably benign 0.31
Predicted Primers
Posted On 2013-08-19