Incidental Mutation 'R1827:Rufy4'
ID 206869
Institutional Source Beutler Lab
Gene Symbol Rufy4
Ensembl Gene ENSMUSG00000061815
Gene Name RUN and FYVE domain containing 4
Synonyms F930048N03Rik
MMRRC Submission 039854-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.202) question?
Stock # R1827 (G1)
Quality Score 213
Status Not validated
Chromosome 1
Chromosomal Location 74164700-74187382 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 74173279 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 415 (L415P)
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: L331P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000079062
Gene: ENSMUSG00000061815
AA Change: L331P

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: L415P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000115873
Gene: ENSMUSG00000061815
AA Change: L415P

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
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.0%
  • 20x: 91.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadsb G C 7: 131,043,004 (GRCm39) R355T probably damaging Het
Ackr2 C T 9: 121,738,581 (GRCm39) R319C probably benign Het
Acot4 G A 12: 84,088,712 (GRCm39) A187T probably damaging Het
Adgrb2 A C 4: 129,906,350 (GRCm39) Q926P probably damaging Het
Adgrb3 T C 1: 25,571,658 (GRCm39) T420A probably damaging Het
Adra1b A T 11: 43,726,476 (GRCm39) V147E probably damaging Het
Bco1 A G 8: 117,832,498 (GRCm39) Y98C probably damaging Het
Car5a C T 8: 122,650,547 (GRCm39) V166M probably benign Het
Cdh5 T C 8: 104,839,541 (GRCm39) L4P possibly damaging Het
Clec12a A G 6: 129,330,762 (GRCm39) T115A probably damaging Het
Cmya5 G A 13: 93,210,956 (GRCm39) T3279I possibly damaging Het
Col4a4 C T 1: 82,517,709 (GRCm39) G105D unknown Het
Cyp2d34 A T 15: 82,500,295 (GRCm39) H481Q probably benign Het
Dhx15 A T 5: 52,327,422 (GRCm39) C307* probably null Het
Dnah9 A G 11: 65,740,887 (GRCm39) Y4100H probably damaging Het
Dock10 T C 1: 80,508,009 (GRCm39) N1647S probably benign Het
Duox1 T A 2: 122,177,861 (GRCm39) Y1548* probably null Het
Esyt1 T C 10: 128,352,238 (GRCm39) E763G probably benign Het
Fbh1 G T 2: 11,768,699 (GRCm39) D332E possibly damaging Het
Fndc8 G A 11: 82,790,355 (GRCm39) V275M probably damaging Het
Focad T G 4: 88,147,620 (GRCm39) Y420D probably benign Het
Gml A T 15: 74,688,280 (GRCm39) H62Q probably benign Het
Gpr158 A T 2: 21,832,129 (GRCm39) L1076F probably benign Het
Gpr161 A G 1: 165,134,136 (GRCm39) T133A possibly damaging Het
Gpr83 G T 9: 14,779,629 (GRCm39) C269F possibly damaging Het
Gsg1l A T 7: 125,509,369 (GRCm39) I256K possibly damaging Het
Hao1 T A 2: 134,372,584 (GRCm39) R141S probably benign Het
Hnf1a G A 5: 115,098,254 (GRCm39) A116V probably damaging Het
Hrh4 A T 18: 13,155,261 (GRCm39) T267S probably damaging Het
Igfals A T 17: 25,099,278 (GRCm39) N123I probably benign Het
Iglon5 T A 7: 43,128,545 (GRCm39) T91S probably benign Het
Impg2 A T 16: 56,087,583 (GRCm39) N1134I possibly damaging Het
Incenp A G 19: 9,850,093 (GRCm39) V860A possibly damaging Het
Irf5 A T 6: 29,536,672 (GRCm39) H461L possibly damaging Het
Itpr2 A G 6: 146,229,830 (GRCm39) L1255P probably damaging Het
Kank2 A G 9: 21,706,761 (GRCm39) S86P probably damaging Het
Kcnma1 C A 14: 23,380,997 (GRCm39) D903Y probably damaging Het
Kcnn3 A T 3: 89,428,301 (GRCm39) M176L possibly damaging Het
Mccc1 A T 3: 36,039,150 (GRCm39) I281N probably damaging Het
Mms19 G A 19: 41,942,116 (GRCm39) A584V probably benign Het
Mon2 A T 10: 122,882,216 (GRCm39) D184E probably damaging Het
Mrpl1 T C 5: 96,374,202 (GRCm39) V159A possibly damaging Het
Mtrex C A 13: 113,049,633 (GRCm39) probably null Het
Myo18a C T 11: 77,709,597 (GRCm39) T190I probably benign Het
Myo7a A T 7: 97,725,938 (GRCm39) M1038K probably damaging Het
Myrfl T A 10: 116,668,852 (GRCm39) I304F probably damaging Het
Neo1 G A 9: 58,824,314 (GRCm39) R705* probably null Het
Nfat5 T C 8: 108,093,966 (GRCm39) S736P probably benign Het
Nlrp4c C T 7: 6,068,765 (GRCm39) P222L probably damaging Het
Nmt1 T A 11: 102,955,664 (GRCm39) W481R probably damaging Het
Ntrk3 T A 7: 77,897,049 (GRCm39) I663L probably damaging Het
Nup210l A T 3: 90,061,864 (GRCm39) E681V probably damaging Het
Nxpe2 T C 9: 48,237,914 (GRCm39) T114A probably damaging Het
Or4c105 A T 2: 88,648,402 (GRCm39) I296F probably benign Het
Or55b3 A G 7: 102,126,720 (GRCm39) L119P probably damaging Het
Or56b1b A T 7: 108,164,282 (GRCm39) V240D probably benign Het
Pald1 ATGCTGCTGCTGCTGC ATGCTGCTGCTGC 10: 61,191,701 (GRCm39) probably benign Het
Ppm1e T C 11: 87,122,521 (GRCm39) T479A probably damaging Het
Ppp1r7 A G 1: 93,288,518 (GRCm39) E298G probably benign Het
Pramel29 G A 4: 143,936,180 (GRCm39) P27S probably damaging Het
Prkaca T C 8: 84,717,616 (GRCm39) probably null Het
Prss36 A G 7: 127,532,664 (GRCm39) V718A probably damaging Het
Pxk C T 14: 8,151,507 (GRCm38) R441* probably null Het
Rnf182 G A 13: 43,822,010 (GRCm39) W187* probably null Het
Rrp12 G C 19: 41,868,920 (GRCm39) D519E possibly damaging Het
Ryk T A 9: 102,765,706 (GRCm39) D335E probably benign Het
S100a11 A T 3: 93,433,428 (GRCm39) I91F probably benign Het
Scin T C 12: 40,118,922 (GRCm39) R625G possibly damaging Het
Simc1 T A 13: 54,672,452 (GRCm39) C267S probably benign Het
Slc28a1 T C 7: 80,787,950 (GRCm39) V279A possibly damaging Het
Slc30a8 T A 15: 52,194,953 (GRCm39) probably null Het
Slco6d1 A G 1: 98,348,941 (GRCm39) D4G probably damaging Het
Tmem127 G A 2: 127,098,094 (GRCm39) probably null Het
Trpm1 G A 7: 63,884,755 (GRCm39) R812H probably damaging Het
Tsga10 T A 1: 37,874,661 (GRCm39) I75F probably damaging Het
Tyms C T 5: 30,267,014 (GRCm39) probably null Het
Ubr4 A G 4: 139,153,008 (GRCm39) probably null Het
Unc45a A G 7: 79,981,488 (GRCm39) V438A possibly damaging Het
Usf2 T C 7: 30,654,765 (GRCm39) D110G probably damaging Het
Vit T C 17: 78,853,875 (GRCm39) probably null Het
Vmn2r104 A T 17: 20,262,497 (GRCm39) M211K probably damaging Het
Vmn2r11 T C 5: 109,199,938 (GRCm39) H505R probably benign Het
Vmn2r77 G A 7: 86,450,821 (GRCm39) A236T probably damaging Het
Xpo1 T C 11: 23,235,155 (GRCm39) M608T probably benign Het
Zfp112 T C 7: 23,824,385 (GRCm39) F116L probably damaging Het
Zfp84 A G 7: 29,476,768 (GRCm39) T487A possibly damaging Het
Zfpl1 A C 19: 6,131,901 (GRCm39) L241R 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
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
R3056: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'- CTTCCAGGTCCATGAACTTGG -3'
(R):5'- GGGTCAGGAAAGATGCCTAC -3'

Sequencing Primer
(F):5'- CAGGTCCATGAACTTGGCAATGTC -3'
(R):5'- ACTGGCCTCGGTATCCTG -3'
Posted On 2014-06-23