Incidental Mutation 'IGL02148:Sh3rf3'
ID 281870
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sh3rf3
Ensembl Gene ENSMUSG00000037990
Gene Name SH3 domain containing ring finger 3
Synonyms Sh3md4, 4831416G18Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.121) question?
Stock # IGL02148
Quality Score
Status
Chromosome 10
Chromosomal Location 58649181-58974738 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 58922562 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 546 (M546T)
Ref Sequence ENSEMBL: ENSMUSP00000120938 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000153031]
AlphaFold Q8C120
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148267
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152924
Predicted Effect probably benign
Transcript: ENSMUST00000153031
AA Change: M546T

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000120938
Gene: ENSMUSG00000037990
AA Change: M546T

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
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akna C T 4: 63,300,716 (GRCm39) probably benign Het
AU040320 T C 4: 126,733,469 (GRCm39) V663A possibly damaging Het
Cdh13 A G 8: 119,925,697 (GRCm39) D355G probably damaging Het
Cdyl2 A G 8: 117,315,983 (GRCm39) probably benign Het
Csnk1g3 C T 18: 54,086,360 (GRCm39) R422C probably benign Het
Dclk1 T A 3: 55,407,520 (GRCm39) V233D probably damaging Het
Ddx59 T C 1: 136,361,565 (GRCm39) S477P probably damaging Het
Epb41l1 A T 2: 156,353,748 (GRCm39) probably benign Het
Epha2 T C 4: 141,045,835 (GRCm39) L453P probably damaging Het
Esco2 T C 14: 66,064,044 (GRCm39) H380R probably benign Het
Fbxo38 T C 18: 62,669,298 (GRCm39) M51V probably benign Het
Fgb T C 3: 82,950,594 (GRCm39) M387V probably damaging Het
Fryl A G 5: 73,233,302 (GRCm39) L1522S probably benign Het
Gdf9 T A 11: 53,327,569 (GRCm39) M175K probably benign Het
Gm20547 C T 17: 35,079,524 (GRCm39) D243N probably benign Het
Gramd1b T A 9: 40,227,060 (GRCm39) D299V probably damaging Het
Gsg1l G T 7: 125,522,671 (GRCm39) Q186K possibly damaging Het
H2bl1 A T 13: 99,120,691 (GRCm39) F112I probably damaging Het
Katnip A T 7: 125,472,648 (GRCm39) probably null Het
Kcnh5 A G 12: 74,944,426 (GRCm39) L941P possibly damaging Het
Lrrc8d A G 5: 105,960,253 (GRCm39) D221G possibly damaging Het
Med19 T C 2: 84,515,603 (GRCm39) F96L probably damaging Het
Mei1 C A 15: 81,976,912 (GRCm39) S589* probably null Het
Myh15 G T 16: 48,936,678 (GRCm39) D708Y probably damaging Het
Naca C T 10: 127,879,753 (GRCm39) probably benign Het
Or5d43 A T 2: 88,104,566 (GRCm39) Y276N possibly damaging Het
Otog G A 7: 45,950,011 (GRCm39) C306Y probably damaging Het
Phldb1 T C 9: 44,607,369 (GRCm39) K1279E probably damaging Het
Pkd1 C T 17: 24,798,810 (GRCm39) T369I probably damaging Het
Plekha8 A G 6: 54,592,271 (GRCm39) S32G probably damaging Het
Pramel25 T A 4: 143,519,304 (GRCm39) Y22N probably benign Het
Sema4g A G 19: 44,984,908 (GRCm39) T113A probably damaging Het
Setdb2 C T 14: 59,639,764 (GRCm39) R709Q probably damaging Het
Slc27a5 A G 7: 12,728,878 (GRCm39) V328A probably damaging Het
Spef1 T C 2: 131,014,688 (GRCm39) N78S probably benign Het
Tln1 T C 4: 43,555,388 (GRCm39) T179A probably damaging Het
Tmc5 T C 7: 118,244,547 (GRCm39) I475T probably damaging Het
Top2b A G 14: 16,400,488 (GRCm38) Y621C probably damaging Het
Ttf1 T C 2: 28,969,438 (GRCm39) F727L probably benign Het
Tufm T C 7: 126,088,332 (GRCm39) L75P probably damaging Het
Ugt1a2 T A 1: 88,128,796 (GRCm39) D146E probably damaging Het
Usp15 G A 10: 122,963,742 (GRCm39) T533I probably damaging Het
Vmn1r113 A G 7: 20,521,747 (GRCm39) T180A probably benign Het
Vmn1r205 G T 13: 22,776,395 (GRCm39) P236T probably damaging Het
Vmn2r112 T G 17: 22,838,013 (GRCm39) C825G probably damaging Het
Zfp712 T A 13: 67,190,222 (GRCm39) I102F 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
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
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
Posted On 2015-04-16