Incidental Mutation 'IGL03163:Rangap1'
ID411503
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 #IGL03163
Quality Score
Status
Chromosome15
Chromosomal Location81704248-81745530 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 81716600 bp
ZygosityHeterozygous
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]
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: 80,181,417 D393V probably benign Het
Amz2 C A 11: 109,428,925 Q46K probably benign Het
Ankhd1 G A 18: 36,647,628 R1911H probably damaging Het
Apba3 A G 10: 81,269,223 probably null Het
Atxn1l T C 8: 109,732,385 N415S probably damaging Het
Ccdc36 G T 9: 108,404,933 L519I probably benign Het
Clu C T 14: 65,979,786 S356F probably benign Het
Cluh T C 11: 74,666,068 V1029A probably benign Het
Creb3 C T 4: 43,566,315 L274F probably damaging Het
Cyhr1 A T 15: 76,659,274 L13Q probably damaging Het
Dcaf8 T C 1: 172,172,908 V211A probably damaging Het
Emilin3 G A 2: 160,908,729 Q320* probably null Het
Fam131c T C 4: 141,382,758 F156L probably damaging Het
Fbxw21 T A 9: 109,145,484 I323F probably benign Het
Fmo9 A G 1: 166,674,450 V202A possibly damaging Het
Gipr C T 7: 19,162,556 W205* probably null Het
Gm13941 A T 2: 111,098,416 I99K unknown Het
Gpr22 A T 12: 31,709,172 V317E possibly damaging Het
Hace1 T C 10: 45,672,605 I582T probably damaging Het
Khdrbs1 T C 4: 129,725,715 E211G probably benign Het
Lonrf1 T C 8: 36,230,330 D500G probably benign Het
Lrp2 A C 2: 69,501,526 Y1628* probably null Het
Lrrc40 T C 3: 158,041,587 I112T possibly damaging Het
Matr3 G A 18: 35,572,591 D190N probably damaging Het
Olfr894 T C 9: 38,219,414 V194A probably benign Het
Ptpn13 A T 5: 103,591,346 D2326V probably damaging Het
Ptpn3 T C 4: 57,222,020 D557G probably damaging Het
Rasgef1c T C 11: 49,971,373 V363A possibly damaging Het
Ric8b A G 10: 85,001,822 N498D probably damaging Het
Scn1a A C 2: 66,318,074 D22E probably benign Het
Spc25 T G 2: 69,197,204 I115L probably damaging Het
Sspo A G 6: 48,484,332 H3569R probably benign Het
Stra6l T C 4: 45,881,455 I439T probably benign Het
Trappc12 G T 12: 28,746,654 P293Q probably damaging Het
Trcg1 T C 9: 57,248,347 L761P possibly damaging Het
Usp15 A C 10: 123,171,144 M144R probably damaging Het
Vmn2r11 T C 5: 109,053,826 I271V probably benign Het
Zcchc2 T C 1: 106,031,111 V1104A probably damaging Het
Other mutations in Rangap1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00423:Rangap1 APN 15 81721993 missense probably benign 0.04
IGL01080:Rangap1 APN 15 81705752 splice site probably benign
IGL01608:Rangap1 APN 15 81709504 missense probably benign 0.00
IGL01939:Rangap1 APN 15 81720663 missense probably damaging 0.97
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
R8161:Rangap1 UTSW 15 81710495 missense probably benign 0.19
Posted On2016-08-02