Incidental Mutation 'R1569:Sh3rf1'
ID 177119
Institutional Source Beutler Lab
Gene Symbol Sh3rf1
Ensembl Gene ENSMUSG00000031642
Gene Name SH3 domain containing ring finger 1
Synonyms Posh, Sh3md2, 2200003J05Rik
MMRRC Submission 039608-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.255) question?
Stock # R1569 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 61676906-61849105 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 61837896 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 814 (P814S)
Ref Sequence ENSEMBL: ENSMUSP00000148118 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034060] [ENSMUST00000209611]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000034060
AA Change: P814S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034060
Gene: ENSMUSG00000031642
AA Change: P814S

DomainStartEndE-ValueType
RING 12 52 5.3e-9 SMART
low complexity region 83 90 N/A INTRINSIC
SH3 137 192 1.67e-18 SMART
SH3 199 258 4.84e-15 SMART
low complexity region 366 376 N/A INTRINSIC
low complexity region 397 405 N/A INTRINSIC
low complexity region 417 430 N/A INTRINSIC
SH3 454 511 7.92e-20 SMART
low complexity region 558 569 N/A INTRINSIC
low complexity region 638 651 N/A INTRINSIC
low complexity region 700 734 N/A INTRINSIC
SH3 835 891 1.47e-14 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000209611
AA Change: P814S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210343
Meta Mutation Damage Score 0.0842 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.6%
  • 20x: 90.3%
Validation Efficiency 96% (72/75)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein containing an N-terminus RING-finger, four SH3 domains, and a region implicated in binding of the Rho GTPase Rac. Via the RING-finger, the encoded protein has been shown to function as an ubiquitin-protein ligase involved in protein sorting at the trans-Golgi network. The encoded protein may also act as a scaffold for the c-Jun N-terminal kinase signaling pathway, facilitating the formation of a functional signaling module. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010315B03Rik T A 9: 124,056,427 (GRCm39) K166* probably null Het
Abca2 T A 2: 25,329,197 (GRCm39) N1012K probably benign Het
Ahnak T C 19: 8,981,458 (GRCm39) V914A possibly damaging Het
Akap1 T A 11: 88,724,006 (GRCm39) M833L probably benign Het
Atp2b1 T A 10: 98,823,188 (GRCm39) H249Q probably benign Het
Atp6v0a4 A G 6: 38,027,560 (GRCm39) V750A probably damaging Het
Car6 T C 4: 150,285,499 (GRCm39) Y23C probably damaging Het
Celsr3 A G 9: 108,706,267 (GRCm39) T917A probably damaging Het
Clmn C A 12: 104,747,340 (GRCm39) D736Y probably damaging Het
Dclk2 C T 3: 86,712,946 (GRCm39) R503Q possibly damaging Het
Dennd4c G A 4: 86,704,331 (GRCm39) R282H possibly damaging Het
Dsg1b T A 18: 20,529,537 (GRCm39) N327K probably damaging Het
Eftud2 A T 11: 102,745,597 (GRCm39) probably benign Het
Esyt1 G T 10: 128,354,863 (GRCm39) S512R possibly damaging Het
Fam124b T C 1: 80,190,852 (GRCm39) Y177C possibly damaging Het
Fbxl5 A T 5: 43,922,803 (GRCm39) I205K probably damaging Het
Fcrl1 A G 3: 87,292,012 (GRCm39) Y57C probably damaging Het
Gabpb1 A T 2: 126,494,171 (GRCm39) D151E probably benign Het
Gcc2 C T 10: 58,105,993 (GRCm39) L310F probably benign Het
Hsd11b1 C G 1: 192,922,635 (GRCm39) E141Q probably damaging Het
Htr1b A G 9: 81,514,340 (GRCm39) V89A probably benign Het
Ibsp A T 5: 104,458,017 (GRCm39) T185S probably damaging Het
Igfn1 T C 1: 135,896,771 (GRCm39) D1265G probably benign Het
Ints9 T C 14: 65,217,571 (GRCm39) Y33H possibly damaging Het
Kif1a A T 1: 92,986,532 (GRCm39) probably benign Het
Lama1 A T 17: 68,087,613 (GRCm39) probably null Het
Lbp A T 2: 158,161,607 (GRCm39) D223V probably damaging Het
Lck C A 4: 129,449,449 (GRCm39) D283Y probably damaging Het
Lcmt2 A G 2: 120,970,309 (GRCm39) F258S probably damaging Het
Lsg1 G T 16: 30,399,823 (GRCm39) probably null Het
Maip1 T C 1: 57,452,554 (GRCm39) probably benign Het
Mark3 T G 12: 111,600,180 (GRCm39) I465S probably benign Het
Marveld2 C T 13: 100,737,506 (GRCm39) V128I probably benign Het
Mcm3ap A G 10: 76,319,022 (GRCm39) H750R possibly damaging Het
Mdn1 A T 4: 32,723,501 (GRCm39) Q2479L probably null Het
Met A T 6: 17,531,503 (GRCm39) K594* probably null Het
Pak2 G T 16: 31,856,113 (GRCm39) S241R probably damaging Het
Plxna4 T C 6: 32,162,410 (GRCm39) I1368V possibly damaging Het
Pparg T C 6: 115,416,960 (GRCm39) I51T probably benign Het
Ppp1r18 A G 17: 36,179,595 (GRCm39) E62G probably damaging Het
Prkag2 T C 5: 25,152,475 (GRCm39) S86G possibly damaging Het
Rabgap1l A T 1: 160,529,960 (GRCm39) I347K probably benign Het
Rdh1 A T 10: 127,598,941 (GRCm39) M141L probably benign Het
Rfx2 A T 17: 57,111,326 (GRCm39) I82N possibly damaging Het
Sh2b2 G A 5: 136,260,589 (GRCm39) A209V possibly damaging Het
Sh3d19 G A 3: 86,033,951 (GRCm39) R768H possibly damaging Het
Shbg T A 11: 69,508,415 (GRCm39) probably benign Het
Slc15a2 T C 16: 36,576,745 (GRCm39) T430A probably benign Het
Slc17a3 A T 13: 24,039,591 (GRCm39) I250F probably benign Het
Snrnp40 C G 4: 130,271,836 (GRCm39) probably null Het
Spg11 A G 2: 121,932,187 (GRCm39) S552P probably damaging Het
Srpk2 A G 5: 23,719,024 (GRCm39) I597T probably damaging Het
St6galnac1 T G 11: 116,660,097 (GRCm39) N72T possibly damaging Het
Tecpr2 T A 12: 110,911,321 (GRCm39) probably null Het
Tmem208 T A 8: 106,061,462 (GRCm39) C163S possibly damaging Het
Tpte T C 8: 22,835,047 (GRCm39) V401A probably damaging Het
Trhde A G 10: 114,282,093 (GRCm39) W795R possibly damaging Het
Trpm3 G A 19: 22,866,809 (GRCm39) probably null Het
Ttn T A 2: 76,626,063 (GRCm39) T14999S possibly damaging Het
Txndc2 A T 17: 65,945,921 (GRCm39) N85K probably benign Het
Yes1 A G 5: 32,810,507 (GRCm39) Y192C probably damaging Het
Zan A G 5: 137,427,392 (GRCm39) V2415A unknown Het
Zfp410 T A 12: 84,379,726 (GRCm39) C311S probably damaging Het
Zfp51 A T 17: 21,676,642 (GRCm39) M38L probably benign Het
Zfp560 A T 9: 20,260,011 (GRCm39) C284S possibly damaging Het
Zfp808 C T 13: 62,320,714 (GRCm39) R648* probably null Het
Zfp976 G T 7: 42,262,806 (GRCm39) H344N probably damaging Het
Other mutations in Sh3rf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01066:Sh3rf1 APN 8 61,782,370 (GRCm39) missense probably damaging 1.00
IGL01071:Sh3rf1 APN 8 61,678,993 (GRCm39) missense probably damaging 1.00
IGL01485:Sh3rf1 APN 8 61,782,365 (GRCm39) missense possibly damaging 0.79
IGL01587:Sh3rf1 APN 8 61,679,092 (GRCm39) missense probably damaging 0.99
IGL02412:Sh3rf1 APN 8 61,825,723 (GRCm39) missense probably benign 0.35
IGL02649:Sh3rf1 APN 8 61,816,225 (GRCm39) missense probably damaging 1.00
limpid UTSW 8 61,782,292 (GRCm39) missense probably damaging 1.00
Mac UTSW 8 61,814,807 (GRCm39) critical splice donor site probably null
Moki UTSW 8 61,837,860 (GRCm39) missense probably benign 0.17
IGL02835:Sh3rf1 UTSW 8 61,679,081 (GRCm39) missense probably damaging 1.00
R0009:Sh3rf1 UTSW 8 61,679,327 (GRCm39) missense probably damaging 0.97
R0016:Sh3rf1 UTSW 8 61,827,172 (GRCm39) missense probably benign 0.18
R0040:Sh3rf1 UTSW 8 61,782,286 (GRCm39) missense possibly damaging 0.96
R0040:Sh3rf1 UTSW 8 61,782,286 (GRCm39) missense possibly damaging 0.96
R0278:Sh3rf1 UTSW 8 61,827,052 (GRCm39) missense probably damaging 1.00
R0395:Sh3rf1 UTSW 8 61,846,696 (GRCm39) splice site probably benign
R0733:Sh3rf1 UTSW 8 61,825,594 (GRCm39) missense probably benign 0.00
R0790:Sh3rf1 UTSW 8 61,782,292 (GRCm39) missense probably damaging 1.00
R1028:Sh3rf1 UTSW 8 61,846,821 (GRCm39) missense possibly damaging 0.94
R1654:Sh3rf1 UTSW 8 61,814,779 (GRCm39) missense possibly damaging 0.92
R1799:Sh3rf1 UTSW 8 61,825,661 (GRCm39) missense probably damaging 0.99
R1960:Sh3rf1 UTSW 8 61,837,897 (GRCm39) missense probably damaging 1.00
R2181:Sh3rf1 UTSW 8 61,816,272 (GRCm39) missense probably damaging 0.98
R2184:Sh3rf1 UTSW 8 61,825,688 (GRCm39) missense probably damaging 0.99
R2330:Sh3rf1 UTSW 8 61,679,321 (GRCm39) missense probably benign 0.01
R2331:Sh3rf1 UTSW 8 61,679,321 (GRCm39) missense probably benign 0.01
R2332:Sh3rf1 UTSW 8 61,679,321 (GRCm39) missense probably benign 0.01
R2967:Sh3rf1 UTSW 8 61,679,321 (GRCm39) missense probably benign 0.01
R2994:Sh3rf1 UTSW 8 61,825,609 (GRCm39) missense probably benign 0.10
R3159:Sh3rf1 UTSW 8 61,679,321 (GRCm39) missense probably benign 0.01
R3195:Sh3rf1 UTSW 8 61,679,321 (GRCm39) missense probably benign 0.01
R3196:Sh3rf1 UTSW 8 61,679,321 (GRCm39) missense probably benign 0.01
R3724:Sh3rf1 UTSW 8 61,825,756 (GRCm39) missense probably benign
R4692:Sh3rf1 UTSW 8 61,806,888 (GRCm39) splice site probably null
R4712:Sh3rf1 UTSW 8 61,814,793 (GRCm39) missense probably benign 0.00
R5214:Sh3rf1 UTSW 8 61,825,765 (GRCm39) missense probably damaging 0.98
R5409:Sh3rf1 UTSW 8 61,827,279 (GRCm39) missense probably benign 0.01
R5590:Sh3rf1 UTSW 8 61,814,766 (GRCm39) missense probably benign 0.11
R5651:Sh3rf1 UTSW 8 61,816,201 (GRCm39) missense probably damaging 1.00
R6976:Sh3rf1 UTSW 8 61,814,766 (GRCm39) nonsense probably null
R7126:Sh3rf1 UTSW 8 61,802,458 (GRCm39) missense probably benign 0.01
R7154:Sh3rf1 UTSW 8 61,825,748 (GRCm39) missense possibly damaging 0.89
R7625:Sh3rf1 UTSW 8 61,825,756 (GRCm39) missense probably benign
R7747:Sh3rf1 UTSW 8 61,806,787 (GRCm39) missense probably damaging 0.97
R8217:Sh3rf1 UTSW 8 61,782,964 (GRCm39) missense possibly damaging 0.95
R8705:Sh3rf1 UTSW 8 61,802,591 (GRCm39) missense probably damaging 1.00
R8711:Sh3rf1 UTSW 8 61,783,030 (GRCm39) missense probably damaging 1.00
R8735:Sh3rf1 UTSW 8 61,825,687 (GRCm39) missense probably benign 0.30
R8969:Sh3rf1 UTSW 8 61,837,860 (GRCm39) missense probably benign 0.17
R9015:Sh3rf1 UTSW 8 61,827,202 (GRCm39) missense probably benign 0.00
R9085:Sh3rf1 UTSW 8 61,802,493 (GRCm39) missense probably benign 0.00
R9089:Sh3rf1 UTSW 8 61,825,613 (GRCm39) missense probably benign 0.01
R9188:Sh3rf1 UTSW 8 61,814,807 (GRCm39) critical splice donor site probably null
R9259:Sh3rf1 UTSW 8 61,806,838 (GRCm39) missense probably benign 0.05
R9568:Sh3rf1 UTSW 8 61,825,585 (GRCm39) missense probably benign 0.03
R9688:Sh3rf1 UTSW 8 61,679,348 (GRCm39) missense probably benign 0.13
X0066:Sh3rf1 UTSW 8 61,679,231 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TTTCTGGTGCCTCCACCAAACG -3'
(R):5'- AGACCAAGGATTCCAGTGGCTCTC -3'

Sequencing Primer
(F):5'- ATCACCTACCCTGGATGTGGAG -3'
(R):5'- agcactaagaaggctgagaac -3'
Posted On 2014-04-24