Incidental Mutation 'IGL01958:Rasip1'
ID181459
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 #IGL01958
Quality Score
Status
Chromosome7
Chromosomal Location45627488-45639093 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) A to T at 45636764 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Stop codon at position 804 (R804*)
Ref Sequence ENSEMBL: ENSMUSP00000062429 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057927] [ENSMUST00000148532]
Predicted Effect probably null
Transcript: ENSMUST00000057927
AA Change: R804*
SMART Domains Protein: ENSMUSP00000062429
Gene: ENSMUSG00000044562
AA Change: R804*

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: 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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4732465J04Rik T C 10: 95,793,797 I29T probably damaging Het
5830411N06Rik T C 7: 140,274,127 C348R probably damaging Het
Agps G A 2: 75,909,701 probably null Het
Agxt2 A G 15: 10,393,708 probably null Het
Ahnak T C 19: 9,014,909 V4519A possibly damaging Het
Aktip T C 8: 91,126,225 D159G probably damaging Het
Ankrd44 T C 1: 54,766,966 I94V probably damaging Het
Asph T C 4: 9,474,904 E674G possibly damaging Het
Atat1 T A 17: 35,908,843 probably benign Het
Ccar1 G A 10: 62,790,935 A20V possibly damaging Het
Cdc26 T C 4: 62,402,764 D14G probably damaging Het
Cdh15 T C 8: 122,859,350 F156S probably damaging Het
Dctn1 A G 6: 83,191,344 T525A possibly damaging Het
Dnah8 T G 17: 30,855,895 probably benign Het
Dnajc10 T A 2: 80,321,304 probably benign Het
Dtl C A 1: 191,568,377 W125L probably damaging Het
Fam3c G A 6: 22,318,955 T149I probably damaging Het
Fgd6 A G 10: 94,138,308 T1304A probably benign Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm6578 A G 6: 12,099,767 noncoding transcript Het
Gnai1 A G 5: 18,273,570 F199S probably damaging Het
Grb7 T A 11: 98,454,654 V480D probably damaging Het
Hdc A G 2: 126,594,532 L473P possibly damaging Het
Hmcn1 T C 1: 150,603,871 N4614S probably benign Het
Il20ra A G 10: 19,759,043 D344G probably benign Het
Ints1 C T 5: 139,760,088 R1342Q possibly damaging Het
Itga9 T A 9: 118,636,494 probably benign Het
Kat14 T C 2: 144,394,365 L339P probably damaging Het
Klhl22 A G 16: 17,776,462 I152V probably benign Het
Krtap5-2 C A 7: 142,175,722 G74* probably null Het
Lrrc59 C A 11: 94,638,528 probably null Het
Map3k13 A G 16: 21,892,123 Q52R probably benign Het
Mb21d2 A G 16: 28,827,743 probably benign Het
Mphosph9 A T 5: 124,324,990 probably benign Het
Myrf A G 19: 10,210,378 probably benign Het
Nek11 T C 9: 105,300,303 T250A probably benign Het
Nek5 A T 8: 22,096,826 V323E probably benign Het
Nfasc A T 1: 132,608,438 C586* probably null Het
Nup210l T A 3: 90,203,924 L1711Q possibly damaging Het
Parp8 T G 13: 116,876,572 K644Q probably benign Het
Pcnt G T 10: 76,433,679 Q252K probably damaging Het
Pianp A G 6: 125,000,683 T181A possibly damaging Het
Pkd1 T C 17: 24,580,324 V2839A probably damaging Het
Poli C T 18: 70,526,586 R58H possibly damaging Het
Ptk7 T C 17: 46,579,427 D447G probably benign Het
Rapgef5 A G 12: 117,730,651 I637V probably benign Het
Relt A G 7: 100,851,143 V113A probably benign Het
Rnf215 G T 11: 4,140,317 C345F probably damaging Het
Scn2a A G 2: 65,701,829 D595G probably damaging Het
Serpina3k G A 12: 104,341,057 V183M probably damaging Het
Snapc4 T C 2: 26,366,440 probably benign Het
Sparcl1 A T 5: 104,092,540 D339E probably benign Het
Tg T C 15: 66,759,486 F535L probably benign Het
Zbtb45 C A 7: 13,006,276 A471S probably benign Het
Zfp106 T A 2: 120,534,807 K373M probably benign Het
Other mutations in Rasip1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R8158:Rasip1 UTSW 7 45632519 missense probably damaging 1.00
X0018:Rasip1 UTSW 7 45638868 missense probably damaging 0.98
Posted On2014-05-07