Incidental Mutation 'R8158:Rasip1'
ID633362
Institutional Source Beutler Lab
Gene Symbol Rasip1
Ensembl Gene ENSMUSG00000044562
Gene NameRas interacting protein 1
SynonymsRain, 2610025P08Rik
MMRRC Submission
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R8158 (G1)
Quality Score225.009
Status Not validated
Chromosome7
Chromosomal Location45627488-45639093 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 45632519 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Arginine at position 482 (K482R)
Ref Sequence ENSEMBL: ENSMUSP00000062429 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057927]
Predicted Effect probably damaging
Transcript: ENSMUST00000057927
AA Change: K482R

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000062429
Gene: ENSMUSG00000044562
AA Change: K482R

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.3%
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700016D06Rik T A 8: 11,665,056 D46V probably damaging Het
Abl2 T A 1: 156,642,069 S968T probably benign Het
Adcy8 T C 15: 64,783,806 D608G probably benign Het
Adgb C T 10: 10,378,734 V1162M probably benign Het
Agrn A G 4: 156,173,889 V1040A probably benign Het
Amer3 A T 1: 34,587,660 T327S possibly damaging Het
Apaf1 C T 10: 91,059,658 C426Y probably benign Het
Bsn T C 9: 108,110,033 D2840G unknown Het
Camsap1 A T 2: 25,944,428 C406* probably null Het
Cbr2 A T 11: 120,730,297 M158K probably damaging Het
Ccdc105 G C 10: 78,748,675 Q338E probably benign Het
Cgrrf1 T C 14: 46,853,735 S239P probably benign Het
Clnk C A 5: 38,794,911 probably null Het
Csad T C 15: 102,177,762 M445V probably damaging Het
Dnajb7 T A 15: 81,407,399 N246Y probably damaging Het
Dok6 T C 18: 89,473,947 I169V probably benign Het
Hist1h2bm T C 13: 21,722,461 Y122H probably benign Het
Il1f10 T G 2: 24,291,255 I11R possibly damaging Het
Irs1 C T 1: 82,289,533 V321M probably damaging Het
Itga9 T C 9: 118,877,143 F938L probably damaging Het
Kif7 T C 7: 79,704,694 D781G probably damaging Het
Klhl41 A T 2: 69,671,161 N322I probably damaging Het
Krtap31-1 T G 11: 99,908,075 C35G possibly damaging Het
Lsm11 A T 11: 45,933,997 D234E probably benign Het
Med6 T C 12: 81,573,903 K223R probably benign Het
Mfsd4b2 G A 10: 39,922,068 T97I probably benign Het
Mrgpra1 A T 7: 47,335,456 C158* probably null Het
Nr2e1 T C 10: 42,582,885 T8A probably benign Het
Oas2 T C 5: 120,749,773 M1V probably null Het
Olfr1048 T C 2: 86,236,160 Y218C probably damaging Het
Olfr1132 T A 2: 87,634,889 N286I probably damaging Het
Olfr307 T A 7: 86,335,677 I240F probably benign Het
Olfr393 T A 11: 73,847,871 M85L probably benign Het
Olfr60 T C 7: 140,345,249 I247V probably benign Het
Otof C T 5: 30,380,194 G1257D probably benign Het
Phf2 T C 13: 48,817,760 T479A probably benign Het
Pik3c2a T C 7: 116,342,997 N1516S probably benign Het
Qrich1 C A 9: 108,556,037 T622K probably damaging Het
Rgl2 T C 17: 33,936,944 F698L probably benign Het
Scarb1 T C 5: 125,303,137 D124G probably benign Het
Sclt1 A G 3: 41,671,482 I350T probably benign Het
Sec23ip T G 7: 128,767,640 V696G probably damaging Het
Serpina1e G T 12: 103,951,095 T105K probably benign Het
Sin3a A G 9: 57,113,544 probably null Het
Slc34a2 A G 5: 53,060,840 T154A probably damaging Het
Slc9a3 T C 13: 74,155,122 L178P probably damaging Het
Smarca2 A C 19: 26,682,048 I913L probably benign Het
Tcea3 G A 4: 136,273,716 probably null Het
Tmcc1 T A 6: 116,043,474 H339L Het
Trpm2 G T 10: 77,947,897 H247Q probably damaging Het
Tyr T A 7: 87,472,516 D356V probably damaging Het
Vmn2r54 A T 7: 12,615,961 C565S probably damaging Het
Vmn2r82 A C 10: 79,377,802 N74T probably benign Het
Zcchc4 T C 5: 52,815,918 Y375H probably damaging Het
Zfhx3 T A 8: 108,948,721 D2134E possibly damaging Het
Zfhx4 T A 3: 5,398,950 Y1414* probably null Het
Zfp282 A T 6: 47,890,692 E267D possibly damaging Het
Zfp442 A T 2: 150,409,176 C269S possibly damaging Het
Zp3 T A 5: 135,985,564 S246T probably benign Het
Other mutations in Rasip1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01958:Rasip1 APN 7 45636764 nonsense probably null
IGL01995:Rasip1 APN 7 45636816 missense probably damaging 0.99
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
R7769:Rasip1 UTSW 7 45628815 missense probably damaging 0.98
R8146:Rasip1 UTSW 7 45630280 missense possibly damaging 0.95
X0018:Rasip1 UTSW 7 45638868 missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- ATCCTGCCTCGACATTGCAC -3'
(R):5'- CCAAACGGCTTCTTTGATGAG -3'

Sequencing Primer
(F):5'- TCGACATTGCACGGTGC -3'
(R):5'- CTTCTTTGATGAGCCGGGCC -3'
Posted On2020-06-30