Incidental Mutation 'IGL03163:Rangap1'
ID 411503
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rangap1
Ensembl Gene ENSMUSG00000022391
Gene Name RAN GTPase activating protein 1
Synonyms Fug1
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03163
Quality Score
Status
Chromosome 15
Chromosomal Location 81588449-81614120 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 81600801 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 194 (N194K)
Ref Sequence ENSEMBL: ENSMUSP00000130046 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052374] [ENSMUST00000170134] [ENSMUST00000171115] [ENSMUST00000230302] [ENSMUST00000230726]
AlphaFold P46061
Predicted Effect probably damaging
Transcript: ENSMUST00000052374
AA Change: N194K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000057771
Gene: ENSMUSG00000022391
AA Change: N194K

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 damaging
Transcript: ENSMUST00000170134
AA Change: N194K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000126849
Gene: ENSMUSG00000022391
AA Change: N194K

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 damaging
Transcript: ENSMUST00000171115
AA Change: N194K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000130046
Gene: ENSMUSG00000022391
AA Change: N194K

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 damaging
Transcript: ENSMUST00000230302
AA Change: N194K

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
Predicted Effect probably benign
Transcript: ENSMUST00000230726
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn1 T A 12: 80,228,191 (GRCm39) D393V probably benign Het
Amz2 C A 11: 109,319,751 (GRCm39) Q46K probably benign Het
Ankhd1 G A 18: 36,780,681 (GRCm39) R1911H probably damaging Het
Apba3 A G 10: 81,105,057 (GRCm39) probably null Het
Atxn1l T C 8: 110,459,017 (GRCm39) N415S probably damaging Het
Clu C T 14: 66,217,235 (GRCm39) S356F probably benign Het
Cluh T C 11: 74,556,894 (GRCm39) V1029A probably benign Het
Creb3 C T 4: 43,566,315 (GRCm39) L274F probably damaging Het
Dcaf8 T C 1: 172,000,475 (GRCm39) V211A probably damaging Het
Emilin3 G A 2: 160,750,649 (GRCm39) Q320* probably null Het
Fam131c T C 4: 141,110,069 (GRCm39) F156L probably damaging Het
Fbxw21 T A 9: 108,974,552 (GRCm39) I323F probably benign Het
Fmo9 A G 1: 166,502,019 (GRCm39) V202A possibly damaging Het
Gipr C T 7: 18,896,481 (GRCm39) W205* probably null Het
Gm13941 A T 2: 110,928,761 (GRCm39) I99K unknown Het
Gpr22 A T 12: 31,759,171 (GRCm39) V317E possibly damaging Het
Hace1 T C 10: 45,548,701 (GRCm39) I582T probably damaging Het
Iho1 G T 9: 108,282,132 (GRCm39) L519I probably benign Het
Khdrbs1 T C 4: 129,619,508 (GRCm39) E211G probably benign Het
Lonrf1 T C 8: 36,697,484 (GRCm39) D500G probably benign Het
Lrp2 A C 2: 69,331,870 (GRCm39) Y1628* probably null Het
Lrrc40 T C 3: 157,747,224 (GRCm39) I112T possibly damaging Het
Matr3 G A 18: 35,705,644 (GRCm39) D190N probably damaging Het
Or8c16 T C 9: 38,130,710 (GRCm39) V194A probably benign Het
Ptpn13 A T 5: 103,739,212 (GRCm39) D2326V probably damaging Het
Ptpn3 T C 4: 57,222,020 (GRCm39) D557G probably damaging Het
Rasgef1c T C 11: 49,862,200 (GRCm39) V363A possibly damaging Het
Ric8b A G 10: 84,837,686 (GRCm39) N498D probably damaging Het
Scn1a A C 2: 66,148,418 (GRCm39) D22E probably benign Het
Spc25 T G 2: 69,027,548 (GRCm39) I115L probably damaging Het
Sspo A G 6: 48,461,266 (GRCm39) H3569R probably benign Het
Stra6l T C 4: 45,881,455 (GRCm39) I439T probably benign Het
Trappc12 G T 12: 28,796,653 (GRCm39) P293Q probably damaging Het
Trcg1 T C 9: 57,155,630 (GRCm39) L761P possibly damaging Het
Usp15 A C 10: 123,007,049 (GRCm39) M144R probably damaging Het
Vmn2r11 T C 5: 109,201,692 (GRCm39) I271V probably benign Het
Zcchc2 T C 1: 105,958,841 (GRCm39) V1104A probably damaging Het
Zftraf1 A T 15: 76,543,474 (GRCm39) L13Q 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
R0413:Rangap1 UTSW 15 81,600,876 (GRCm39) frame shift probably null
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
Posted On 2016-08-02