Incidental Mutation 'R6450:Sh3rf3'
ID 519358
Institutional Source Beutler Lab
Gene Symbol Sh3rf3
Ensembl Gene ENSMUSG00000037990
Gene Name SH3 domain containing ring finger 3
Synonyms Sh3md4, 4831416G18Rik
MMRRC Submission 044586-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.121) question?
Stock # R6450 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 58649181-58974738 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 58819966 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 259 (D259G)
Ref Sequence ENSEMBL: ENSMUSP00000120938 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000135526] [ENSMUST00000153031]
AlphaFold Q8C120
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133151
Predicted Effect probably damaging
Transcript: ENSMUST00000135526
AA Change: D259G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000114368
Gene: ENSMUSG00000037990
AA Change: D259G

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
RING 52 92 2.76e-7 SMART
low complexity region 119 152 N/A INTRINSIC
low complexity region 161 170 N/A INTRINSIC
SH3 190 245 8.24e-18 SMART
SH3 252 311 5.56e-15 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000153031
AA Change: D259G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000120938
Gene: ENSMUSG00000037990
AA Change: D259G

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
RING 52 92 2.76e-7 SMART
low complexity region 119 152 N/A INTRINSIC
low complexity region 161 170 N/A INTRINSIC
SH3 190 245 8.24e-18 SMART
SH3 252 311 5.56e-15 SMART
SH3 461 518 1.43e-17 SMART
low complexity region 707 739 N/A INTRINSIC
SH3 822 878 5.19e-15 SMART
Meta Mutation Damage Score 0.7820 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.8%
  • 10x: 98.5%
  • 20x: 95.1%
Validation Efficiency 97% (68/70)
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 C G 7: 119,815,449 (GRCm39) N232K probably benign Het
Acaca T A 11: 84,171,294 (GRCm39) V5E probably damaging Het
Adam18 A T 8: 25,119,691 (GRCm39) D529E probably benign Het
Adgrb3 T C 1: 25,459,683 (GRCm39) T798A probably benign Het
Alyref T C 11: 120,486,872 (GRCm39) T130A probably benign Het
Arhgap24 A G 5: 103,044,990 (GRCm39) S591G probably benign Het
Carmil1 C T 13: 24,220,547 (GRCm39) G655E probably damaging Het
Cdc42bpg T A 19: 6,364,518 (GRCm39) probably null Het
Clec12a T A 6: 129,330,366 (GRCm39) L48H probably damaging Het
Coq2 C A 5: 100,809,770 (GRCm39) probably benign Het
Crb2 C A 2: 37,683,838 (GRCm39) F1113L possibly damaging Het
Ctla4 A T 1: 60,951,872 (GRCm39) M134L probably benign Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Homo
Dync2i1 A T 12: 116,210,347 (GRCm39) Y314* probably null Het
Efhb A G 17: 53,759,632 (GRCm39) V290A possibly damaging Het
Epha8 T C 4: 136,659,210 (GRCm39) N843S probably damaging Het
Eva1a A T 6: 82,069,086 (GRCm39) I138F probably damaging Het
Fat2 T A 11: 55,180,136 (GRCm39) I1402F probably damaging Het
Fat3 A T 9: 15,910,466 (GRCm39) H1845Q possibly damaging Het
Gimap8 T A 6: 48,633,385 (GRCm39) F401L probably benign Het
Gpr162 C T 6: 124,838,152 (GRCm39) R166Q possibly damaging Het
H2ac8 A G 13: 23,755,119 (GRCm39) V55A probably damaging Het
Hdac4 G A 1: 91,912,433 (GRCm39) P348S possibly damaging Het
Hmcn2 T C 2: 31,251,812 (GRCm39) V849A probably benign Het
Inpp5b T A 4: 124,686,045 (GRCm39) N696K probably damaging Het
Kdm5d G T Y: 927,056 (GRCm39) R598L probably damaging Homo
Kidins220 T C 12: 25,107,190 (GRCm39) S1548P probably benign Het
Kif2b C A 11: 91,467,192 (GRCm39) V364L probably damaging Het
Kitl A G 10: 99,923,256 (GRCm39) M1V probably null Het
Klra9 G T 6: 130,155,995 (GRCm39) Y253* probably null Het
Map6 T C 7: 98,917,245 (GRCm39) I6T probably damaging Het
Mastl T C 2: 23,010,941 (GRCm39) T768A probably damaging Het
Mettl16 T C 11: 74,696,164 (GRCm39) V335A probably benign Het
Mpl T C 4: 118,305,897 (GRCm39) probably null Het
Myo5c C T 9: 75,193,860 (GRCm39) T1205I probably benign Het
Nav2 C A 7: 49,244,114 (GRCm39) L2114I probably damaging Het
Neb T A 2: 52,084,481 (GRCm39) K5330* probably null Het
Nfe2l1 C T 11: 96,718,161 (GRCm39) E125K possibly damaging Het
Onecut3 A G 10: 80,331,922 (GRCm39) K361E probably damaging Het
Or4f47 T A 2: 111,972,725 (GRCm39) L145* probably null Het
Osbpl6 A G 2: 76,395,174 (GRCm39) N370S possibly damaging Het
Otud4 T A 8: 80,399,626 (GRCm39) M780K probably benign Het
P2rx4 A G 5: 122,865,304 (GRCm39) T310A possibly damaging Het
Pcdha11 G T 18: 37,146,215 (GRCm39) D769Y probably damaging Het
Pcgf6 C T 19: 47,037,527 (GRCm39) R124H probably benign Het
Pibf1 T A 14: 99,374,646 (GRCm39) Y362N probably damaging Het
Ppm1g T C 5: 31,360,468 (GRCm39) E422G probably benign Het
Prmt8 T C 6: 127,709,606 (GRCm39) I85V possibly damaging Het
Prss27 A T 17: 24,263,988 (GRCm39) K225* probably null Het
Rai1 A T 11: 60,077,429 (GRCm39) T498S probably benign Het
Sbf2 C A 7: 110,062,070 (GRCm39) G23V probably damaging Het
Sdha C T 13: 74,482,412 (GRCm39) probably null Het
Sgo2a C T 1: 58,042,092 (GRCm39) Q140* probably null Het
Slc27a3 C A 3: 90,292,777 (GRCm39) D631Y probably damaging Het
Slc7a10 T C 7: 34,886,015 (GRCm39) S37P possibly damaging Het
Slco6d1 A G 1: 98,349,192 (GRCm39) T88A probably benign Het
Smad4 A T 18: 73,810,817 (GRCm39) S56T possibly damaging Het
Smarcd1 A G 15: 99,605,766 (GRCm39) I346V possibly damaging Het
Spast C T 17: 74,675,835 (GRCm39) P260S probably benign Het
Spata31f1e C A 4: 42,792,489 (GRCm39) G548W probably damaging Het
Sprr2i A T 3: 92,316,017 (GRCm39) probably benign Het
Sptbn5 A G 2: 119,877,616 (GRCm39) probably benign Het
Taar9 A T 10: 23,985,138 (GRCm39) Y99N probably damaging Het
Trappc10 A T 10: 78,045,284 (GRCm39) M468K possibly damaging Het
Trim66 T C 7: 109,059,945 (GRCm39) R814G probably benign Het
Tspan31 A G 10: 126,904,227 (GRCm39) C157R probably damaging Het
Vmn2r90 A G 17: 17,953,498 (GRCm39) D554G possibly damaging Het
Vmn2r91 A T 17: 18,305,527 (GRCm39) D70V probably damaging Het
Wdfy4 C T 14: 32,830,649 (GRCm39) G928R probably damaging Het
Zfp346 G T 13: 55,261,517 (GRCm39) K102N probably damaging Het
Zmym4 G A 4: 126,789,099 (GRCm39) P1002S probably damaging Het
Other mutations in Sh3rf3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00596:Sh3rf3 APN 10 58,885,178 (GRCm39) missense probably benign 0.06
IGL01898:Sh3rf3 APN 10 58,885,352 (GRCm39) missense probably damaging 0.99
IGL02108:Sh3rf3 APN 10 58,971,650 (GRCm39) missense probably damaging 1.00
IGL02148:Sh3rf3 APN 10 58,922,562 (GRCm39) missense probably benign 0.02
exasperated UTSW 10 58,922,646 (GRCm39) missense probably benign 0.06
strained UTSW 10 58,842,925 (GRCm39) missense probably damaging 1.00
R0421:Sh3rf3 UTSW 10 58,819,897 (GRCm39) missense probably damaging 1.00
R1056:Sh3rf3 UTSW 10 58,842,904 (GRCm39) missense probably damaging 1.00
R1313:Sh3rf3 UTSW 10 58,907,821 (GRCm39) missense possibly damaging 0.92
R1313:Sh3rf3 UTSW 10 58,907,821 (GRCm39) missense possibly damaging 0.92
R1615:Sh3rf3 UTSW 10 58,966,899 (GRCm39) missense probably benign 0.02
R1797:Sh3rf3 UTSW 10 58,922,489 (GRCm39) nonsense probably null
R1869:Sh3rf3 UTSW 10 58,919,335 (GRCm39) missense probably damaging 1.00
R1924:Sh3rf3 UTSW 10 58,939,989 (GRCm39) splice site probably benign
R1968:Sh3rf3 UTSW 10 58,649,809 (GRCm39) missense probably benign 0.32
R2353:Sh3rf3 UTSW 10 58,842,895 (GRCm39) missense probably damaging 1.00
R3617:Sh3rf3 UTSW 10 58,922,685 (GRCm39) missense possibly damaging 0.83
R3769:Sh3rf3 UTSW 10 58,820,013 (GRCm39) missense probably benign 0.07
R4059:Sh3rf3 UTSW 10 58,919,355 (GRCm39) missense probably damaging 1.00
R4425:Sh3rf3 UTSW 10 58,919,398 (GRCm39) missense probably benign 0.00
R4690:Sh3rf3 UTSW 10 58,649,526 (GRCm39) missense possibly damaging 0.93
R4832:Sh3rf3 UTSW 10 58,649,905 (GRCm39) missense probably benign 0.19
R4853:Sh3rf3 UTSW 10 58,919,341 (GRCm39) missense probably damaging 1.00
R4854:Sh3rf3 UTSW 10 58,649,545 (GRCm39) missense possibly damaging 0.93
R4917:Sh3rf3 UTSW 10 58,842,925 (GRCm39) missense probably damaging 1.00
R4918:Sh3rf3 UTSW 10 58,842,925 (GRCm39) missense probably damaging 1.00
R4995:Sh3rf3 UTSW 10 58,922,646 (GRCm39) missense probably benign 0.06
R5125:Sh3rf3 UTSW 10 58,967,012 (GRCm39) missense probably benign 0.14
R5640:Sh3rf3 UTSW 10 58,649,769 (GRCm39) missense probably benign
R5716:Sh3rf3 UTSW 10 58,967,105 (GRCm39) missense probably benign 0.03
R5756:Sh3rf3 UTSW 10 58,940,204 (GRCm39) missense probably damaging 0.98
R5848:Sh3rf3 UTSW 10 58,819,975 (GRCm39) missense possibly damaging 0.54
R5908:Sh3rf3 UTSW 10 58,885,270 (GRCm39) missense probably benign 0.32
R5930:Sh3rf3 UTSW 10 58,966,808 (GRCm39) missense probably damaging 1.00
R6036:Sh3rf3 UTSW 10 58,649,806 (GRCm39) missense probably benign 0.19
R6036:Sh3rf3 UTSW 10 58,649,806 (GRCm39) missense probably benign 0.19
R6392:Sh3rf3 UTSW 10 58,842,898 (GRCm39) missense probably damaging 0.97
R6470:Sh3rf3 UTSW 10 58,819,791 (GRCm39) missense probably damaging 1.00
R6639:Sh3rf3 UTSW 10 58,919,289 (GRCm39) missense probably damaging 1.00
R6685:Sh3rf3 UTSW 10 58,922,663 (GRCm39) missense possibly damaging 0.95
R7292:Sh3rf3 UTSW 10 58,907,795 (GRCm39) missense probably damaging 1.00
R7789:Sh3rf3 UTSW 10 58,922,637 (GRCm39) missense probably benign 0.01
R7941:Sh3rf3 UTSW 10 58,842,883 (GRCm39) missense probably damaging 0.99
R7959:Sh3rf3 UTSW 10 58,842,925 (GRCm39) missense probably damaging 1.00
R8140:Sh3rf3 UTSW 10 58,885,177 (GRCm39) missense possibly damaging 0.88
R8142:Sh3rf3 UTSW 10 58,885,205 (GRCm39) nonsense probably null
R8241:Sh3rf3 UTSW 10 58,940,242 (GRCm39) missense probably benign 0.11
R8406:Sh3rf3 UTSW 10 58,919,407 (GRCm39) missense probably damaging 1.00
R8725:Sh3rf3 UTSW 10 58,939,992 (GRCm39) critical splice acceptor site probably null
R8727:Sh3rf3 UTSW 10 58,939,992 (GRCm39) critical splice acceptor site probably null
R9341:Sh3rf3 UTSW 10 58,966,802 (GRCm39) missense probably damaging 0.99
R9343:Sh3rf3 UTSW 10 58,966,802 (GRCm39) missense probably damaging 0.99
RF020:Sh3rf3 UTSW 10 58,649,590 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- GCAGACTCTATCCCAGCTTC -3'
(R):5'- TTTTCAGAGGCCCAGGGTG -3'

Sequencing Primer
(F):5'- TATGCCAAGGCGCTCTACAG -3'
(R):5'- CCAGGGTGGTCATTGCTC -3'
Posted On 2018-05-24