Incidental Mutation 'R7484:Rufy3'
ID 579989
Institutional Source Beutler Lab
Gene Symbol Rufy3
Ensembl Gene ENSMUSG00000029291
Gene Name RUN and FYVE domain containing 3
Synonyms Rpipx, D5Bwg0860e, 6330416M07Rik, 2810428M05Rik
MMRRC Submission 045558-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7484 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 88712899-88799251 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 88746331 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 72 (V72E)
Ref Sequence ENSEMBL: ENSMUSP00000143115 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031229] [ENSMUST00000196686] [ENSMUST00000196894] [ENSMUST00000198965] [ENSMUST00000199312]
AlphaFold Q9D394
Predicted Effect probably benign
Transcript: ENSMUST00000031229
SMART Domains Protein: ENSMUSP00000031229
Gene: ENSMUSG00000029291

DomainStartEndE-ValueType
low complexity region 5 16 N/A INTRINSIC
RUN 163 225 8.08e-23 SMART
coiled coil region 267 329 N/A INTRINSIC
coiled coil region 357 464 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000196686
AA Change: V72E

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000143209
Gene: ENSMUSG00000029291
AA Change: V72E

DomainStartEndE-ValueType
low complexity region 5 16 N/A INTRINSIC
RUN 181 243 8.08e-23 SMART
coiled coil region 285 347 N/A INTRINSIC
coiled coil region 375 482 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000196894
SMART Domains Protein: ENSMUSP00000143770
Gene: ENSMUSG00000029291

DomainStartEndE-ValueType
low complexity region 2 34 N/A INTRINSIC
low complexity region 84 107 N/A INTRINSIC
RUN 213 275 8.08e-23 SMART
coiled coil region 317 379 N/A INTRINSIC
coiled coil region 407 514 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000198965
SMART Domains Protein: ENSMUSP00000143302
Gene: ENSMUSG00000029291

DomainStartEndE-ValueType
low complexity region 2 34 N/A INTRINSIC
low complexity region 84 107 N/A INTRINSIC
RUN 213 275 2.8e-25 SMART
coiled coil region 317 379 N/A INTRINSIC
coiled coil region 407 555 N/A INTRINSIC
FYVE 597 662 2.9e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000199312
AA Change: V72E

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000143115
Gene: ENSMUSG00000029291
AA Change: V72E

DomainStartEndE-ValueType
low complexity region 5 16 N/A INTRINSIC
RUN 181 243 8.08e-23 SMART
coiled coil region 285 347 N/A INTRINSIC
coiled coil region 375 482 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 98% (65/66)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a RPIP8, UNC-14, and NESCA domain-containing protein that is required for maintenance of neuronal polarity. In addition, it has been implicated in mediation of gastric cancer cell migration and invasion via interaction with P21-activated kinase-1, which promotes its expression. The encoded protein localizes to F-actin-enriched invadopodia to induce formation of protrusions, thereby facilitating cell migration. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]
PHENOTYPE: The gene product is involved in regulating neuronal polarity and axon growth. Homozygous KO leads to loss of neuronal polarity and causes neonatal lethality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm5 A G 4: 144,504,521 (GRCm39) L210P probably damaging Het
Acacb G A 5: 114,356,923 (GRCm39) V1285I probably damaging Het
Acly A T 11: 100,386,789 (GRCm39) I591N probably damaging Het
Acr T A 15: 89,457,427 (GRCm39) V225E probably damaging Het
Actr8 A G 14: 29,714,925 (GRCm39) D580G probably damaging Het
Adamts12 C A 15: 11,345,734 (GRCm39) Q1592K probably benign Het
Aire T C 10: 77,878,404 (GRCm39) E138G probably damaging Het
Apob C T 12: 8,056,884 (GRCm39) Q1789* probably null Het
Cbx5 A C 15: 103,114,256 (GRCm39) probably null Het
Cd300lb A T 11: 114,819,345 (GRCm39) W95R probably damaging Het
Cdc16 A G 8: 13,827,605 (GRCm39) T504A probably benign Het
Cenpf A G 1: 189,389,018 (GRCm39) S1605P probably damaging Het
Ckap2l A G 2: 129,114,455 (GRCm39) V596A possibly damaging Het
Cntn1 T C 15: 92,151,922 (GRCm39) W454R probably benign Het
Crat C T 2: 30,294,577 (GRCm39) R497Q probably benign Het
Csf2rb A G 15: 78,223,099 (GRCm39) T104A possibly damaging Het
Cyp4a12b A G 4: 115,289,760 (GRCm39) D209G possibly damaging Het
Ddx23 T C 15: 98,546,570 (GRCm39) E533G probably damaging Het
Dscaml1 A G 9: 45,660,744 (GRCm39) probably null Het
Eif3l T G 15: 78,968,336 (GRCm39) C202G probably benign Het
Ephx4 T G 5: 107,577,612 (GRCm39) M312R probably damaging Het
Erich6 A T 3: 58,534,112 (GRCm39) probably null Het
Far2 G A 6: 148,075,411 (GRCm39) D424N probably damaging Het
Fat1 C A 8: 45,489,221 (GRCm39) N3497K probably damaging Het
Fstl3 G A 10: 79,615,865 (GRCm39) C117Y probably damaging Het
Fyb2 A T 4: 104,870,499 (GRCm39) H700L probably benign Het
Gm8356 T A 14: 17,691,282 (GRCm39) M128L probably benign Het
Golim4 G T 3: 75,805,442 (GRCm39) probably null Het
Grm1 T G 10: 10,622,403 (GRCm39) D440A probably benign Het
Gtf2a1 A G 12: 91,529,747 (GRCm39) V322A probably benign Het
Hid1 T C 11: 115,243,407 (GRCm39) probably null Het
Igfals G A 17: 25,098,962 (GRCm39) V18M possibly damaging Het
Klk1b24 G T 7: 43,839,688 (GRCm39) probably null Het
Lmbr1 T C 5: 29,551,850 (GRCm39) probably benign Het
Lrrc40 T C 3: 157,746,194 (GRCm39) S90P probably benign Het
Mapk9 T C 11: 49,763,663 (GRCm39) Y185H probably damaging Het
Marveld2 C T 13: 100,748,068 (GRCm39) G337D probably damaging Het
Mga G T 2: 119,776,710 (GRCm39) R1539L probably damaging Het
Mllt6 T A 11: 97,563,442 (GRCm39) S342T probably benign Het
Ms4a6c T C 19: 11,449,893 (GRCm39) probably null Het
Muc16 T A 9: 18,558,064 (GRCm39) H2743L unknown Het
Myl10 G C 5: 136,726,825 (GRCm39) V70L probably benign Het
Or10ag60 T C 2: 87,438,281 (GRCm39) F183S probably damaging Het
Or2l13 A G 16: 19,305,753 (GRCm39) H55R possibly damaging Het
Plcd3 T G 11: 102,962,545 (GRCm39) K635N probably damaging Het
Prkch T A 12: 73,632,301 (GRCm39) probably null Het
Rb1cc1 T C 1: 6,344,441 (GRCm39) V1570A probably damaging Het
Rp1 T C 1: 4,415,704 (GRCm39) N1803D probably benign Het
Secisbp2l G A 2: 125,613,452 (GRCm39) Q181* probably null Het
Sgcb A G 5: 73,797,188 (GRCm39) F191L possibly damaging Het
Sgsh T A 11: 119,237,183 (GRCm39) D477V probably damaging Het
Shoc1 A T 4: 59,062,286 (GRCm39) V924E probably damaging Het
Slc22a28 C A 19: 8,048,492 (GRCm39) S385I probably benign Het
Slc26a3 T C 12: 31,497,787 (GRCm39) V47A probably benign Het
Slco2a1 A T 9: 102,945,185 (GRCm39) I187F probably damaging Het
Sltm T C 9: 70,481,179 (GRCm39) S344P unknown Het
Sort1 A G 3: 108,246,141 (GRCm39) T373A probably damaging Het
Stab1 A G 14: 30,882,274 (GRCm39) F474L probably benign Het
Tbc1d5 G T 17: 51,224,573 (GRCm39) A326E possibly damaging Het
Tcstv4 A T 13: 120,770,017 (GRCm39) K112N probably damaging Het
Vwa8 A C 14: 79,219,674 (GRCm39) probably null Het
Wdr70 G A 15: 7,951,562 (GRCm39) T425I probably benign Het
Zfp30 T C 7: 29,492,231 (GRCm39) Y243H probably benign Het
Zfp974 A T 7: 27,611,559 (GRCm39) N55K possibly damaging Het
Zftraf1 A G 15: 76,530,435 (GRCm39) L295P probably damaging Het
Other mutations in Rufy3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00705:Rufy3 APN 5 88,769,209 (GRCm39) missense probably damaging 0.96
IGL01964:Rufy3 APN 5 88,762,929 (GRCm39) missense probably damaging 1.00
IGL02537:Rufy3 APN 5 88,788,521 (GRCm39) utr 3 prime probably benign
R0111:Rufy3 UTSW 5 88,778,443 (GRCm39) missense probably damaging 1.00
R0552:Rufy3 UTSW 5 88,732,129 (GRCm39) missense possibly damaging 0.79
R1441:Rufy3 UTSW 5 88,780,374 (GRCm39) missense probably damaging 0.97
R1565:Rufy3 UTSW 5 88,788,491 (GRCm39) missense probably damaging 1.00
R2507:Rufy3 UTSW 5 88,797,757 (GRCm39) missense probably damaging 1.00
R2508:Rufy3 UTSW 5 88,797,757 (GRCm39) missense probably damaging 1.00
R3707:Rufy3 UTSW 5 88,790,891 (GRCm39) missense probably benign 0.28
R4907:Rufy3 UTSW 5 88,732,051 (GRCm39) missense possibly damaging 0.95
R4999:Rufy3 UTSW 5 88,785,085 (GRCm39) missense probably damaging 1.00
R5134:Rufy3 UTSW 5 88,793,426 (GRCm39) missense probably benign 0.01
R5420:Rufy3 UTSW 5 88,788,518 (GRCm39) makesense probably null
R5482:Rufy3 UTSW 5 88,785,191 (GRCm39) frame shift probably null
R6029:Rufy3 UTSW 5 88,775,114 (GRCm39) missense probably damaging 1.00
R6254:Rufy3 UTSW 5 88,732,168 (GRCm39) missense probably benign 0.01
R6444:Rufy3 UTSW 5 88,785,166 (GRCm39) missense probably damaging 1.00
R7219:Rufy3 UTSW 5 88,797,715 (GRCm39) missense probably benign 0.22
R7256:Rufy3 UTSW 5 88,762,806 (GRCm39) missense possibly damaging 0.91
R7327:Rufy3 UTSW 5 88,790,811 (GRCm39) missense probably damaging 0.99
R7352:Rufy3 UTSW 5 88,785,053 (GRCm39) missense possibly damaging 0.92
R7645:Rufy3 UTSW 5 88,788,476 (GRCm39) missense probably benign 0.01
R7953:Rufy3 UTSW 5 88,790,851 (GRCm39) missense probably benign 0.01
R8043:Rufy3 UTSW 5 88,790,851 (GRCm39) missense probably benign 0.01
R8478:Rufy3 UTSW 5 88,762,895 (GRCm39) missense probably damaging 1.00
R8549:Rufy3 UTSW 5 88,795,073 (GRCm39) splice site probably null
R9112:Rufy3 UTSW 5 88,780,336 (GRCm39) missense
R9399:Rufy3 UTSW 5 88,797,725 (GRCm39) missense possibly damaging 0.92
R9438:Rufy3 UTSW 5 88,796,124 (GRCm39) missense probably benign 0.00
X0066:Rufy3 UTSW 5 88,765,277 (GRCm39) missense probably benign 0.10
Predicted Primers PCR Primer
(F):5'- TGACGTAAGCATGCTTGTTTC -3'
(R):5'- GCTTAGTGACTGCCATGGTAC -3'

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