Incidental Mutation 'IGL01995:Rasip1'
ID183657
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rasip1
Ensembl Gene ENSMUSG00000044562
Gene NameRas interacting protein 1
SynonymsRain, 2610025P08Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01995
Quality Score
Status
Chromosome7
Chromosomal Location45627488-45639093 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 45636816 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 821 (D821G)
Ref Sequence ENSEMBL: ENSMUSP00000062429 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057927] [ENSMUST00000148532]
Predicted Effect probably damaging
Transcript: ENSMUST00000057927
AA Change: D821G

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000062429
Gene: ENSMUSG00000044562
AA Change: D821G

DomainStartEndE-ValueType
low complexity region 41 57 N/A INTRINSIC
low complexity region 59 67 N/A INTRINSIC
low complexity region 72 90 N/A INTRINSIC
low complexity region 97 112 N/A INTRINSIC
RA 141 253 6.94e-8 SMART
low complexity region 284 308 N/A INTRINSIC
low complexity region 310 326 N/A INTRINSIC
low complexity region 327 339 N/A INTRINSIC
SCOP:d1gxca_ 391 484 1e-2 SMART
low complexity region 498 509 N/A INTRINSIC
low complexity region 556 575 N/A INTRINSIC
low complexity region 679 692 N/A INTRINSIC
DIL 768 877 4.14e-44 SMART
low complexity region 928 947 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000148532
SMART Domains Protein: ENSMUSP00000114686
Gene: ENSMUSG00000042918

DomainStartEndE-ValueType
low complexity region 45 56 N/A INTRINSIC
low complexity region 143 155 N/A INTRINSIC
SAP 165 199 1.3e-7 SMART
low complexity region 200 213 N/A INTRINSIC
low complexity region 255 297 N/A INTRINSIC
low complexity region 320 336 N/A INTRINSIC
low complexity region 347 372 N/A INTRINSIC
low complexity region 385 399 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209998
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210213
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210648
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210957
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210988
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211418
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211533
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a targeted mutation exhibit complete embryonic lethality during organogenesis associated with a failure in cardiovascular development. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930503E14Rik T C 14: 44,163,845 probably benign Het
AI661453 C A 17: 47,468,517 probably benign Het
Arhgap29 G A 3: 122,014,328 V1052I probably benign Het
Arhgef17 A G 7: 100,928,655 S1029P probably benign Het
Arpc5l T C 2: 39,008,214 S7P probably damaging Het
Asf1b A G 8: 83,955,904 I26V probably benign Het
Cep95 T C 11: 106,806,371 L240P probably damaging Het
Cnmd A G 14: 79,642,068 probably benign Het
Cntn3 T A 6: 102,203,885 N783I probably damaging Het
Col6a2 C A 10: 76,604,842 probably benign Het
Col9a2 T C 4: 121,050,410 probably null Het
Cry2 T C 2: 92,424,632 E126G probably benign Het
Cxcl15 T C 5: 90,794,608 V13A possibly damaging Het
Dbr1 A G 9: 99,583,899 D510G probably benign Het
Dct A G 14: 118,034,243 F392L probably damaging Het
Dgkz A G 2: 91,934,050 probably benign Het
Dhrs7b A G 11: 60,830,715 I2V probably benign Het
Efnb3 A T 11: 69,556,904 probably null Het
Fbf1 T A 11: 116,151,020 R565S probably null Het
Gimap5 T C 6: 48,752,793 I99T probably damaging Het
Gm9912 A G 3: 149,185,449 L16P unknown Het
Gpr17 A G 18: 31,947,134 L292P probably damaging Het
Hdac10 C T 15: 89,127,598 V129M probably damaging Het
Mfap3l A G 8: 60,671,464 I247V possibly damaging Het
Mtus1 A T 8: 41,084,420 S86R probably damaging Het
Mylk3 A G 8: 85,359,261 S55P possibly damaging Het
Nol6 A T 4: 41,118,567 C745S probably damaging Het
Nudt13 A T 14: 20,306,317 E103D probably damaging Het
Olfr1129 A G 2: 87,575,462 Y126C probably damaging Het
Olfr395 A G 11: 73,907,435 I19T possibly damaging Het
Pdzk1 G T 3: 96,857,371 A324S probably benign Het
Pofut2 T C 10: 77,260,681 V80A possibly damaging Het
Rnf10 T A 5: 115,251,102 K273* probably null Het
Slc4a9 A G 18: 36,539,775 M811V possibly damaging Het
Smchd1 T C 17: 71,444,020 D301G probably damaging Het
Tm9sf2 A T 14: 122,143,471 T159S probably benign Het
Tom1l1 G A 11: 90,649,861 P327S probably damaging Het
Trim3 A G 7: 105,618,482 probably benign Het
Trpm6 A C 19: 18,830,327 probably benign Het
Ttc13 A C 8: 124,688,882 L245R probably damaging Het
Txnrd1 T A 10: 82,877,284 V60E probably damaging Het
Ung T A 5: 114,136,386 D173E probably benign Het
Zbtb5 A G 4: 44,995,294 V30A probably damaging Het
Other mutations in Rasip1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01958:Rasip1 APN 7 45636764 nonsense probably null
R0208:Rasip1 UTSW 7 45632575 missense probably damaging 0.97
R0373:Rasip1 UTSW 7 45635244 missense possibly damaging 0.50
R0869:Rasip1 UTSW 7 45635028 missense probably damaging 0.99
R0870:Rasip1 UTSW 7 45635028 missense probably damaging 0.99
R0871:Rasip1 UTSW 7 45635028 missense probably damaging 0.99
R0872:Rasip1 UTSW 7 45635028 missense probably damaging 0.99
R1388:Rasip1 UTSW 7 45630232 missense probably damaging 0.98
R1780:Rasip1 UTSW 7 45635318 missense possibly damaging 0.94
R2348:Rasip1 UTSW 7 45629083 critical splice donor site probably null
R2517:Rasip1 UTSW 7 45634823 missense probably damaging 1.00
R4587:Rasip1 UTSW 7 45632735 missense possibly damaging 0.86
R4678:Rasip1 UTSW 7 45627823 missense possibly damaging 0.86
R4679:Rasip1 UTSW 7 45627823 missense possibly damaging 0.86
R4714:Rasip1 UTSW 7 45632396 frame shift probably null
R5572:Rasip1 UTSW 7 45636729 missense probably benign 0.00
R6182:Rasip1 UTSW 7 45628455 small deletion probably benign
R7443:Rasip1 UTSW 7 45638724 missense probably damaging 1.00
X0018:Rasip1 UTSW 7 45638868 missense probably damaging 0.98
Posted On2014-05-07