Incidental Mutation 'R3056:Rufy4'
ID 265161
Institutional Source Beutler Lab
Gene Symbol Rufy4
Ensembl Gene ENSMUSG00000061815
Gene Name RUN and FYVE domain containing 4
Synonyms F930048N03Rik
MMRRC Submission 040565-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.202) question?
Stock # R3056 (G1)
Quality Score 184
Status Not validated
Chromosome 1
Chromosomal Location 74164700-74187382 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 74186822 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 537 (C537R)
Ref Sequence ENSEMBL: ENSMUSP00000115873 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080167] [ENSMUST00000127134]
AlphaFold Q3TYX8
Predicted Effect probably damaging
Transcript: ENSMUST00000080167
AA Change: C453R

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000079062
Gene: ENSMUSG00000061815
AA Change: C453R

DomainStartEndE-ValueType
Pfam:RUN 2 81 1.5e-8 PFAM
coiled coil region 331 404 N/A INTRINSIC
Blast:FYVE 415 472 2e-6 BLAST
SCOP:d1vfya_ 428 473 4e-7 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000127134
AA Change: C537R

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000115873
Gene: ENSMUSG00000061815
AA Change: C537R

DomainStartEndE-ValueType
Pfam:RUN 41 165 6.2e-10 PFAM
coiled coil region 415 488 N/A INTRINSIC
Blast:FYVE 499 556 2e-6 BLAST
SCOP:d1vfya_ 512 557 3e-7 SMART
Meta Mutation Damage Score 0.8605 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm4 A G 4: 144,401,268 (GRCm39) I72T probably benign Het
Abca1 A T 4: 53,127,626 (GRCm39) M131K probably benign Het
Agbl1 C T 7: 76,416,232 (GRCm39) T751M possibly damaging Het
Asb14 A G 14: 26,636,146 (GRCm39) I510V possibly damaging Het
Bard1 A G 1: 71,127,390 (GRCm39) V73A possibly damaging Het
C6 T C 15: 4,769,355 (GRCm39) I187T probably damaging Het
Catsper3 T C 13: 55,956,709 (GRCm39) S376P unknown Het
Ccdc150 A G 1: 54,328,001 (GRCm39) N361S possibly damaging Het
Cntn5 A G 9: 10,419,076 (GRCm39) L7P probably benign Het
Cplane1 T C 15: 8,280,491 (GRCm39) S2805P unknown Het
Cxcr6 A T 9: 123,639,529 (GRCm39) I177F probably damaging Het
Dnah7b A G 1: 46,307,869 (GRCm39) D3061G possibly damaging Het
Epas1 T C 17: 87,138,409 (GRCm39) F835S probably damaging Het
Fat3 C T 9: 15,871,792 (GRCm39) R3533H probably benign Het
Fxr1 A G 3: 34,103,333 (GRCm39) E221G probably damaging Het
Gpatch11 A G 17: 79,151,272 (GRCm39) T228A probably damaging Het
Greb1 G T 12: 16,738,592 (GRCm39) T1457K probably damaging Het
Ighm T A 12: 113,382,596 (GRCm39) probably benign Het
Ints12 G A 3: 132,815,126 (GRCm39) M444I possibly damaging Het
Lmx1b G A 2: 33,457,297 (GRCm39) Q168* probably null Het
Ltbp3 C A 19: 5,801,434 (GRCm39) N659K probably benign Het
Micos13 A G 17: 56,915,889 (GRCm39) F55S probably damaging Het
Mrpl20 G T 4: 155,888,329 (GRCm39) V43F possibly damaging Het
Nlgn1 T C 3: 25,487,860 (GRCm39) N825S possibly damaging Het
Or5d36 T A 2: 87,901,583 (GRCm39) T48S probably benign Het
Or5p67 A T 7: 107,922,757 (GRCm39) V42E possibly damaging Het
Or8k3b C A 2: 86,520,896 (GRCm39) C141F possibly damaging Het
Pccb C T 9: 100,912,250 (GRCm39) R79Q probably damaging Het
Peg10 G A 6: 4,755,029 (GRCm39) R270H possibly damaging Het
Pttg1ip2 A T 5: 5,507,283 (GRCm39) probably null Het
Slc4a4 T C 5: 89,373,807 (GRCm39) V971A probably damaging Het
Timm29 T C 9: 21,504,887 (GRCm39) M185T probably damaging Het
Tmem92 C T 11: 94,669,873 (GRCm39) C86Y probably benign Het
Tnfrsf8 C T 4: 145,011,895 (GRCm39) probably null Het
Tnks1bp1 T A 2: 84,900,344 (GRCm39) C1433* probably null Het
Utp14b T A 1: 78,642,442 (GRCm39) D113E possibly damaging Het
Vmn2r110 T A 17: 20,803,360 (GRCm39) Y405F probably damaging Het
Wiz A G 17: 32,576,671 (GRCm39) S628P probably benign Het
Xrcc4 T C 13: 90,210,196 (GRCm39) T83A probably benign Het
Other mutations in Rufy4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01617:Rufy4 APN 1 74,168,513 (GRCm39) missense probably damaging 1.00
IGL02075:Rufy4 APN 1 74,168,518 (GRCm39) missense probably damaging 1.00
IGL02604:Rufy4 APN 1 74,173,348 (GRCm39) missense probably damaging 1.00
IGL02606:Rufy4 APN 1 74,172,509 (GRCm39) splice site probably benign
IGL02928:Rufy4 APN 1 74,168,241 (GRCm39) unclassified probably benign
R0091:Rufy4 UTSW 1 74,168,095 (GRCm39) unclassified probably benign
R0507:Rufy4 UTSW 1 74,185,875 (GRCm39) missense probably benign 0.02
R0589:Rufy4 UTSW 1 74,172,042 (GRCm39) missense probably damaging 1.00
R0595:Rufy4 UTSW 1 74,180,089 (GRCm39) missense possibly damaging 0.94
R0742:Rufy4 UTSW 1 74,185,875 (GRCm39) missense probably benign 0.02
R1533:Rufy4 UTSW 1 74,169,002 (GRCm39) critical splice donor site probably null
R1666:Rufy4 UTSW 1 74,186,837 (GRCm39) missense probably benign 0.06
R1668:Rufy4 UTSW 1 74,186,837 (GRCm39) missense probably benign 0.06
R1827:Rufy4 UTSW 1 74,173,279 (GRCm39) missense probably damaging 1.00
R2018:Rufy4 UTSW 1 74,180,106 (GRCm39) missense possibly damaging 0.49
R2095:Rufy4 UTSW 1 74,186,822 (GRCm39) missense probably damaging 0.99
R2306:Rufy4 UTSW 1 74,186,822 (GRCm39) missense probably damaging 0.99
R2307:Rufy4 UTSW 1 74,186,822 (GRCm39) missense probably damaging 0.99
R2472:Rufy4 UTSW 1 74,186,822 (GRCm39) missense probably damaging 0.99
R2475:Rufy4 UTSW 1 74,186,822 (GRCm39) missense probably damaging 0.99
R3022:Rufy4 UTSW 1 74,186,822 (GRCm39) missense probably damaging 0.99
R3054:Rufy4 UTSW 1 74,186,822 (GRCm39) missense probably damaging 0.99
R3055:Rufy4 UTSW 1 74,186,822 (GRCm39) missense probably damaging 0.99
R3117:Rufy4 UTSW 1 74,186,822 (GRCm39) missense probably damaging 0.99
R3118:Rufy4 UTSW 1 74,186,822 (GRCm39) missense probably damaging 0.99
R3236:Rufy4 UTSW 1 74,186,822 (GRCm39) missense probably damaging 0.99
R3237:Rufy4 UTSW 1 74,186,822 (GRCm39) missense probably damaging 0.99
R3545:Rufy4 UTSW 1 74,186,822 (GRCm39) missense probably damaging 0.99
R3546:Rufy4 UTSW 1 74,186,822 (GRCm39) missense probably damaging 0.99
R3547:Rufy4 UTSW 1 74,186,822 (GRCm39) missense probably damaging 0.99
R3548:Rufy4 UTSW 1 74,186,822 (GRCm39) missense probably damaging 0.99
R3767:Rufy4 UTSW 1 74,186,822 (GRCm39) missense probably damaging 0.99
R3768:Rufy4 UTSW 1 74,186,822 (GRCm39) missense probably damaging 0.99
R3770:Rufy4 UTSW 1 74,186,822 (GRCm39) missense probably damaging 0.99
R3816:Rufy4 UTSW 1 74,186,822 (GRCm39) missense probably damaging 0.99
R3817:Rufy4 UTSW 1 74,186,822 (GRCm39) missense probably damaging 0.99
R3818:Rufy4 UTSW 1 74,186,822 (GRCm39) missense probably damaging 0.99
R3819:Rufy4 UTSW 1 74,186,822 (GRCm39) missense probably damaging 0.99
R3895:Rufy4 UTSW 1 74,186,822 (GRCm39) missense probably damaging 0.99
R4050:Rufy4 UTSW 1 74,186,822 (GRCm39) missense probably damaging 0.99
R4091:Rufy4 UTSW 1 74,186,822 (GRCm39) missense probably damaging 0.99
R4117:Rufy4 UTSW 1 74,186,822 (GRCm39) missense probably damaging 0.99
R4124:Rufy4 UTSW 1 74,186,822 (GRCm39) missense probably damaging 0.99
R4125:Rufy4 UTSW 1 74,186,822 (GRCm39) missense probably damaging 0.99
R4127:Rufy4 UTSW 1 74,186,822 (GRCm39) missense probably damaging 0.99
R4231:Rufy4 UTSW 1 74,186,822 (GRCm39) missense probably damaging 0.99
R4233:Rufy4 UTSW 1 74,186,822 (GRCm39) missense probably damaging 0.99
R4234:Rufy4 UTSW 1 74,186,822 (GRCm39) missense probably damaging 0.99
R4236:Rufy4 UTSW 1 74,186,822 (GRCm39) missense probably damaging 0.99
R4254:Rufy4 UTSW 1 74,186,822 (GRCm39) missense probably damaging 0.99
R4255:Rufy4 UTSW 1 74,186,822 (GRCm39) missense probably damaging 0.99
R4319:Rufy4 UTSW 1 74,186,822 (GRCm39) missense probably damaging 0.99
R4320:Rufy4 UTSW 1 74,186,822 (GRCm39) missense probably damaging 0.99
R4321:Rufy4 UTSW 1 74,186,822 (GRCm39) missense probably damaging 0.99
R4321:Rufy4 UTSW 1 74,171,943 (GRCm39) missense possibly damaging 0.93
R4322:Rufy4 UTSW 1 74,186,822 (GRCm39) missense probably damaging 0.99
R4323:Rufy4 UTSW 1 74,186,822 (GRCm39) missense probably damaging 0.99
R4324:Rufy4 UTSW 1 74,186,822 (GRCm39) missense probably damaging 0.99
R4360:Rufy4 UTSW 1 74,186,822 (GRCm39) missense probably damaging 0.99
R4361:Rufy4 UTSW 1 74,186,822 (GRCm39) missense probably damaging 0.99
R4406:Rufy4 UTSW 1 74,186,822 (GRCm39) missense probably damaging 0.99
R4408:Rufy4 UTSW 1 74,186,822 (GRCm39) missense probably damaging 0.99
R4516:Rufy4 UTSW 1 74,186,822 (GRCm39) missense probably damaging 0.99
R4517:Rufy4 UTSW 1 74,186,822 (GRCm39) missense probably damaging 0.99
R4520:Rufy4 UTSW 1 74,186,822 (GRCm39) missense probably damaging 0.99
R4522:Rufy4 UTSW 1 74,186,822 (GRCm39) missense probably damaging 0.99
R4524:Rufy4 UTSW 1 74,186,822 (GRCm39) missense probably damaging 0.99
R4531:Rufy4 UTSW 1 74,186,822 (GRCm39) missense probably damaging 0.99
R4533:Rufy4 UTSW 1 74,186,822 (GRCm39) missense probably damaging 0.99
R4617:Rufy4 UTSW 1 74,186,822 (GRCm39) missense probably damaging 0.99
R4661:Rufy4 UTSW 1 74,172,266 (GRCm39) missense probably damaging 0.99
R4778:Rufy4 UTSW 1 74,186,822 (GRCm39) missense probably damaging 0.99
R4779:Rufy4 UTSW 1 74,186,822 (GRCm39) missense probably damaging 0.99
R4840:Rufy4 UTSW 1 74,168,198 (GRCm39) missense possibly damaging 0.82
R4897:Rufy4 UTSW 1 74,186,822 (GRCm39) missense probably damaging 0.99
R4898:Rufy4 UTSW 1 74,186,822 (GRCm39) missense probably damaging 0.99
R4899:Rufy4 UTSW 1 74,186,822 (GRCm39) missense probably damaging 0.99
R4915:Rufy4 UTSW 1 74,186,822 (GRCm39) missense probably damaging 0.99
R4917:Rufy4 UTSW 1 74,186,822 (GRCm39) missense probably damaging 0.99
R4918:Rufy4 UTSW 1 74,186,822 (GRCm39) missense probably damaging 0.99
R4997:Rufy4 UTSW 1 74,186,822 (GRCm39) missense probably damaging 0.99
R5092:Rufy4 UTSW 1 74,186,822 (GRCm39) missense probably damaging 0.99
R5097:Rufy4 UTSW 1 74,186,822 (GRCm39) missense probably damaging 0.99
R5189:Rufy4 UTSW 1 74,186,822 (GRCm39) missense probably damaging 0.99
R5191:Rufy4 UTSW 1 74,186,822 (GRCm39) missense probably damaging 0.99
R5195:Rufy4 UTSW 1 74,186,822 (GRCm39) missense probably damaging 0.99
R5196:Rufy4 UTSW 1 74,186,822 (GRCm39) missense probably damaging 0.99
R5197:Rufy4 UTSW 1 74,186,822 (GRCm39) missense probably damaging 0.99
R5226:Rufy4 UTSW 1 74,186,822 (GRCm39) missense probably damaging 0.99
R5227:Rufy4 UTSW 1 74,186,822 (GRCm39) missense probably damaging 0.99
R5228:Rufy4 UTSW 1 74,186,822 (GRCm39) missense probably damaging 0.99
R5230:Rufy4 UTSW 1 74,186,822 (GRCm39) missense probably damaging 0.99
R5372:Rufy4 UTSW 1 74,186,822 (GRCm39) missense probably damaging 0.99
R5373:Rufy4 UTSW 1 74,186,822 (GRCm39) missense probably damaging 0.99
R5374:Rufy4 UTSW 1 74,186,822 (GRCm39) missense probably damaging 0.99
R5375:Rufy4 UTSW 1 74,186,822 (GRCm39) missense probably damaging 0.99
R5376:Rufy4 UTSW 1 74,186,822 (GRCm39) missense probably damaging 0.99
R5377:Rufy4 UTSW 1 74,186,822 (GRCm39) missense probably damaging 0.99
R5378:Rufy4 UTSW 1 74,186,822 (GRCm39) missense probably damaging 0.99
R5699:Rufy4 UTSW 1 74,186,822 (GRCm39) missense probably damaging 0.99
R5748:Rufy4 UTSW 1 74,186,822 (GRCm39) missense probably damaging 0.99
R5750:Rufy4 UTSW 1 74,172,068 (GRCm39) missense probably benign 0.01
R5767:Rufy4 UTSW 1 74,186,822 (GRCm39) missense probably damaging 0.99
R5865:Rufy4 UTSW 1 74,185,914 (GRCm39) missense probably damaging 0.99
R6083:Rufy4 UTSW 1 74,168,556 (GRCm39) missense probably damaging 0.99
R6149:Rufy4 UTSW 1 74,186,892 (GRCm39) missense probably benign 0.15
R6279:Rufy4 UTSW 1 74,172,383 (GRCm39) missense probably benign 0.00
R6300:Rufy4 UTSW 1 74,172,383 (GRCm39) missense probably benign 0.00
R6629:Rufy4 UTSW 1 74,171,526 (GRCm39) splice site probably null
R6809:Rufy4 UTSW 1 74,172,206 (GRCm39) missense probably benign 0.00
R7179:Rufy4 UTSW 1 74,172,035 (GRCm39) missense probably benign 0.12
R7218:Rufy4 UTSW 1 74,172,174 (GRCm39) missense probably damaging 0.99
R7453:Rufy4 UTSW 1 74,168,493 (GRCm39) splice site probably null
R9377:Rufy4 UTSW 1 74,171,879 (GRCm39) missense probably benign 0.08
X0023:Rufy4 UTSW 1 74,180,208 (GRCm39) missense probably benign 0.04
X0025:Rufy4 UTSW 1 74,172,178 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- AAGCCATCAGGAGAAGCTGC -3'
(R):5'- AACGCAGAGCTAGGCCTATCTG -3'

Sequencing Primer
(F):5'- GGAGAAGCTGCCACCTCAATTAG -3'
(R):5'- AGAGCTAGGCCTATCTGTGGAC -3'
Posted On 2015-02-05