Incidental Mutation 'R7959:Sh3rf3'
ID 650008
Institutional Source Beutler Lab
Gene Symbol Sh3rf3
Ensembl Gene ENSMUSG00000037990
Gene Name SH3 domain containing ring finger 3
Synonyms Sh3md4, 4831416G18Rik
MMRRC Submission 046003-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.121) question?
Stock # R7959 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 58649181-58974738 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 58842925 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 297 (D297V)
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: D297V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000114368
Gene: ENSMUSG00000037990
AA Change: D297V

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: D297V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000120938
Gene: ENSMUSG00000037990
AA Change: D297V

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 0.9013 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak T C 19: 8,988,013 (GRCm39) V3099A possibly damaging Het
Apba2 A G 7: 64,345,571 (GRCm39) M254V probably benign Het
Bbs7 C T 3: 36,657,085 (GRCm39) D248N probably damaging Het
Ccdc168 T C 1: 44,096,728 (GRCm39) I1457V probably benign Het
Cldn8 A G 16: 88,359,829 (GRCm39) V32A probably damaging Het
Col4a4 G T 1: 82,484,780 (GRCm39) P496T unknown Het
Cyp27a1 T A 1: 74,776,236 (GRCm39) N417K probably benign Het
Dnah7a T C 1: 53,682,621 (GRCm39) D283G probably benign Het
Efcab3 A G 11: 104,933,627 (GRCm39) K4878E probably damaging Het
Elp1 A T 4: 56,774,737 (GRCm39) M746K probably damaging Het
Fmn1 T A 2: 113,195,967 (GRCm39) Y556N unknown Het
Fsip2 T C 2: 82,816,120 (GRCm39) I3951T possibly damaging Het
Gigyf1 C T 5: 137,522,581 (GRCm39) T773I probably damaging Het
Heatr6 A T 11: 83,672,189 (GRCm39) K1066* probably null Het
Mdfic T C 6: 15,741,070 (GRCm39) S142P possibly damaging Het
Mettl16 A G 11: 74,707,852 (GRCm39) I389V probably benign Het
Mia3 T C 1: 183,125,760 (GRCm39) Y57C probably damaging Het
Nrp2 C T 1: 62,784,567 (GRCm39) R239C probably damaging Het
Nup160 T C 2: 90,544,239 (GRCm39) probably null Het
Or1e1 T C 11: 73,244,744 (GRCm39) L55P probably damaging Het
Or2n1e A G 17: 38,586,602 (GRCm39) *313W probably null Het
Or52a24 T A 7: 103,382,015 (GRCm39) V294D probably damaging Het
Or8b1b T A 9: 38,376,211 (GRCm39) S291R probably damaging Het
Or9s13 T A 1: 92,548,029 (GRCm39) C134S probably damaging Het
Pierce1 A T 2: 28,352,369 (GRCm39) N131K probably damaging Het
Plcxd1 A T 5: 110,251,422 (GRCm39) I333F probably damaging Het
Plxna2 C A 1: 194,493,270 (GRCm39) S1848R probably damaging Het
Plxna2 AT A 1: 194,476,172 (GRCm39) probably null Het
Pnpla2 T A 7: 141,037,406 (GRCm39) D136E probably benign Het
Polr1b T A 2: 128,950,014 (GRCm39) F245I probably damaging Het
Prmt9 T A 8: 78,287,594 (GRCm39) I245N probably damaging Het
Serhl A T 15: 82,986,073 (GRCm39) D62V probably damaging Het
Spata13 C T 14: 60,993,679 (GRCm39) R1044* probably null Het
Strbp G A 2: 37,530,906 (GRCm39) T116I probably benign Het
Supt5 T C 7: 28,015,224 (GRCm39) D977G probably benign Het
Tmem184c A G 8: 78,329,532 (GRCm39) V176A possibly damaging Het
Uhrf2 A G 19: 30,063,660 (GRCm39) N541S probably damaging Het
Vmn2r24 T A 6: 123,755,949 (GRCm39) F7Y possibly damaging Het
Vmn2r27 T C 6: 124,169,040 (GRCm39) R697G probably benign Het
Zfp994 A G 17: 22,421,761 (GRCm39) V18A 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
R6450:Sh3rf3 UTSW 10 58,819,966 (GRCm39) missense probably damaging 1.00
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
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'- TCATCTGACTCTGTGGCTTG -3'
(R):5'- ACAGCACGGTAGGATTCAGAC -3'

Sequencing Primer
(F):5'- GTGGCTTGTCCCCTTAGAC -3'
(R):5'- GCACGGTAGGATTCAGACATCTC -3'
Posted On 2020-09-15