Incidental Mutation 'R7443:Rasip1'
ID 577092
Institutional Source Beutler Lab
Gene Symbol Rasip1
Ensembl Gene ENSMUSG00000044562
Gene Name Ras interacting protein 1
Synonyms Rain, 2610025P08Rik
MMRRC Submission 045519-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7443 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 45276961-45288516 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 45288148 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 909 (I909N)
Ref Sequence ENSEMBL: ENSMUSP00000062429 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057927] [ENSMUST00000148532]
AlphaFold Q3U0S6
Predicted Effect probably damaging
Transcript: ENSMUST00000057927
AA Change: I909N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000062429
Gene: ENSMUSG00000044562
AA Change: I909N

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abl2 T C 1: 156,452,951 (GRCm39) I162T probably damaging Het
Acaca G A 11: 84,206,619 (GRCm39) S1493N probably benign Het
Arf2 T A 11: 103,859,976 (GRCm39) M18K probably benign Het
Bag5 A G 12: 111,677,161 (GRCm39) S221P probably damaging Het
Bcr T C 10: 74,978,968 (GRCm39) probably null Het
Btg2 T A 1: 134,005,433 (GRCm39) K51* probably null Het
Chrne A G 11: 70,509,092 (GRCm39) V130A probably benign Het
Cracd T C 5: 77,004,485 (GRCm39) V282A unknown Het
Cubn T A 2: 13,460,320 (GRCm39) D714V probably damaging Het
Cyp4a29 A T 4: 115,105,756 (GRCm39) I153F probably damaging Het
Dph7 C A 2: 24,852,505 (GRCm39) H5Q probably benign Het
Epha6 T C 16: 59,595,988 (GRCm39) N901S possibly damaging Het
Exosc9 C A 3: 36,607,990 (GRCm39) P66Q probably damaging Het
Foxn3 T C 12: 99,355,038 (GRCm39) D42G possibly damaging Het
Gbp11 A G 5: 105,478,816 (GRCm39) probably null Het
Gm3264 A T 14: 16,058,304 (GRCm39) Y37F probably damaging Het
H2-M10.2 T A 17: 36,596,945 (GRCm39) I44F probably benign Het
Hemgn A T 4: 46,396,145 (GRCm39) F364I probably damaging Het
Hnf4a A G 2: 163,400,932 (GRCm39) I184V probably benign Het
Ighe G T 12: 113,235,785 (GRCm39) C180* probably null Het
Iigp1c A T 18: 60,379,122 (GRCm39) N219I probably benign Het
Klk1b22 T A 7: 43,765,534 (GRCm39) I162K probably benign Het
Lmo3 C T 6: 138,354,220 (GRCm39) A104T probably damaging Het
Lsm14a A G 7: 34,053,263 (GRCm39) V263A probably benign Het
Ltbp1 T C 17: 75,671,432 (GRCm39) Y1538H probably damaging Het
Ly6g6g T C 15: 74,647,249 (GRCm39) E32G Het
Map9 A G 3: 82,278,663 (GRCm39) E221G possibly damaging Het
Mccc2 G A 13: 100,130,144 (GRCm39) A71V possibly damaging Het
Mdc1 T A 17: 36,161,712 (GRCm39) V875E probably damaging Het
Mier2 A T 10: 79,376,289 (GRCm39) I212N unknown Het
Mitd1 T C 1: 37,920,117 (GRCm39) T164A probably benign Het
Myh1 T C 11: 67,111,331 (GRCm39) I1590T probably benign Het
Mylk2 T G 2: 152,753,346 (GRCm39) probably benign Het
Ncapg T A 5: 45,829,652 (GRCm39) V118E probably benign Het
Nynrin G A 14: 56,108,873 (GRCm39) V1327I probably benign Het
Oas1c C A 5: 120,943,484 (GRCm39) K218N probably damaging Het
Or11g24 A G 14: 50,662,507 (GRCm39) D177G probably damaging Het
Or13a18 A G 7: 140,190,961 (GRCm39) N286S probably damaging Het
Or1e23 A T 11: 73,407,674 (GRCm39) V117D possibly damaging Het
Or4a80 T A 2: 89,582,285 (GRCm39) M296L probably benign Het
Or5g26 T A 2: 85,493,912 (GRCm39) I289F probably damaging Het
Or5h17 T A 16: 58,820,353 (GRCm39) F102I probably damaging Het
Otoa A T 7: 120,731,633 (GRCm39) M618L probably benign Het
P3r3urf G A 4: 116,030,664 (GRCm39) G23R probably benign Het
Plcg2 A T 8: 118,231,028 (GRCm39) T37S probably benign Het
Plekhg4 T C 8: 106,107,499 (GRCm39) L1010P probably damaging Het
Plxnb1 T C 9: 108,943,675 (GRCm39) F1921L probably damaging Het
Prss47 T A 13: 65,197,303 (GRCm39) K144N probably damaging Het
Rapgef2 T C 3: 78,988,531 (GRCm39) K953E probably damaging Het
Rps5 A G 7: 12,656,922 (GRCm39) T8A probably benign Het
Rsbn1l T C 5: 21,132,621 (GRCm39) K213E possibly damaging Het
Serpinb5 T C 1: 106,809,700 (GRCm39) F369L probably benign Het
Slc4a5 T C 6: 83,241,297 (GRCm39) V306A probably benign Het
Sox13 T C 1: 133,312,369 (GRCm39) Y465C probably damaging Het
Sox13 C A 1: 133,312,311 (GRCm39) K484N probably damaging Het
Stx3 A G 19: 11,769,208 (GRCm39) I39T possibly damaging Het
Tbc1d5 T C 17: 51,273,763 (GRCm39) Y116C probably damaging Het
Tcp11l1 T A 2: 104,514,480 (GRCm39) Q429L probably benign Het
Tns3 G A 11: 8,401,442 (GRCm39) T952I probably benign Het
Trib3 T C 2: 152,181,692 (GRCm39) H176R possibly damaging Het
Trim12a A G 7: 103,950,049 (GRCm39) Y297H probably damaging Het
Unc13a A G 8: 72,083,603 (GRCm39) V1577A probably damaging Het
Vezf1 C A 11: 87,965,489 (GRCm39) P244T probably damaging Het
Vmn1r121 T A 7: 20,831,945 (GRCm39) D165V probably damaging Het
Vmn2r117 T A 17: 23,679,107 (GRCm39) I706F probably benign Het
Vmn2r117 C T 17: 23,679,319 (GRCm39) C635Y probably damaging Het
Vmn2r13 T A 5: 109,339,909 (GRCm39) H22L probably benign Het
Vmn2r87 A T 10: 130,308,588 (GRCm39) M550K probably damaging Het
Wdr6 A G 9: 108,451,489 (GRCm39) L798P probably damaging Het
Wtap C T 17: 13,199,821 (GRCm39) G54D probably benign Het
Zfp827 A G 8: 79,917,047 (GRCm39) S541G Het
Zkscan3 A T 13: 21,572,608 (GRCm39) Y341* probably null Het
Other mutations in Rasip1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01958:Rasip1 APN 7 45,286,188 (GRCm39) nonsense probably null
IGL01995:Rasip1 APN 7 45,286,240 (GRCm39) missense probably damaging 0.99
R0208:Rasip1 UTSW 7 45,281,999 (GRCm39) missense probably damaging 0.97
R0373:Rasip1 UTSW 7 45,284,668 (GRCm39) missense possibly damaging 0.50
R0869:Rasip1 UTSW 7 45,284,452 (GRCm39) missense probably damaging 0.99
R0870:Rasip1 UTSW 7 45,284,452 (GRCm39) missense probably damaging 0.99
R0871:Rasip1 UTSW 7 45,284,452 (GRCm39) missense probably damaging 0.99
R0872:Rasip1 UTSW 7 45,284,452 (GRCm39) missense probably damaging 0.99
R1388:Rasip1 UTSW 7 45,279,656 (GRCm39) missense probably damaging 0.98
R1780:Rasip1 UTSW 7 45,284,742 (GRCm39) missense possibly damaging 0.94
R2348:Rasip1 UTSW 7 45,278,507 (GRCm39) critical splice donor site probably null
R2517:Rasip1 UTSW 7 45,284,247 (GRCm39) missense probably damaging 1.00
R4587:Rasip1 UTSW 7 45,282,159 (GRCm39) missense possibly damaging 0.86
R4678:Rasip1 UTSW 7 45,277,247 (GRCm39) missense possibly damaging 0.86
R4679:Rasip1 UTSW 7 45,277,247 (GRCm39) missense possibly damaging 0.86
R4714:Rasip1 UTSW 7 45,281,820 (GRCm39) frame shift probably null
R5572:Rasip1 UTSW 7 45,286,153 (GRCm39) missense probably benign 0.00
R6182:Rasip1 UTSW 7 45,277,879 (GRCm39) small deletion probably benign
R7769:Rasip1 UTSW 7 45,278,239 (GRCm39) missense probably damaging 0.98
R8146:Rasip1 UTSW 7 45,279,704 (GRCm39) missense possibly damaging 0.95
R8158:Rasip1 UTSW 7 45,281,943 (GRCm39) missense probably damaging 1.00
R8493:Rasip1 UTSW 7 45,284,467 (GRCm39) missense possibly damaging 0.89
R9047:Rasip1 UTSW 7 45,282,066 (GRCm39) missense possibly damaging 0.52
R9352:Rasip1 UTSW 7 45,278,280 (GRCm39) missense possibly damaging 0.69
R9679:Rasip1 UTSW 7 45,277,327 (GRCm39) missense possibly damaging 0.85
X0018:Rasip1 UTSW 7 45,288,292 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- CACACGTTTTAGCTAAAATTCCCG -3'
(R):5'- AAAATGCTCTACGCCCAGG -3'

Sequencing Primer
(F):5'- GTCATCCTTTGAAACACAGGG -3'
(R):5'- GCTCCCTTTTAAGAAGCGATGCAG -3'
Posted On 2019-10-07