Incidental Mutation 'R9015:Sh3rf1'
ID 685918
Institutional Source Beutler Lab
Gene Symbol Sh3rf1
Ensembl Gene ENSMUSG00000031642
Gene Name SH3 domain containing ring finger 1
Synonyms Posh, Sh3md2, 2200003J05Rik
MMRRC Submission 068845-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.255) question?
Stock # R9015 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 61676906-61849105 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 61827202 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 652 (V652A)
Ref Sequence ENSEMBL: ENSMUSP00000034060 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034060] [ENSMUST00000209611]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000034060
AA Change: V652A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000034060
Gene: ENSMUSG00000031642
AA Change: V652A

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 benign
Transcript: ENSMUST00000209611
AA Change: V652A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (93/93)
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: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam22 T C 5: 8,136,688 (GRCm39) probably benign Het
Adamtsl1 A G 4: 86,150,847 (GRCm39) D335G probably damaging Het
Adcy8 T C 15: 64,597,206 (GRCm39) probably benign Het
Alas1 A T 9: 106,113,670 (GRCm39) I525N probably benign Het
Aoah A T 13: 21,184,197 (GRCm39) silent Het
Aox1 G A 1: 58,382,851 (GRCm39) V1044M probably damaging Het
Apcdd1 A T 18: 63,083,157 (GRCm39) Y329F possibly damaging Het
Arhgap10 A C 8: 77,985,687 (GRCm39) C727G probably benign Het
Arid4a G A 12: 71,122,168 (GRCm39) D528N possibly damaging Het
Atp8a1 A G 5: 67,887,250 (GRCm39) V611A Het
BC004004 T C 17: 29,517,637 (GRCm39) F284L probably damaging Het
Bean1 CT C 8: 104,908,664 (GRCm39) probably null Het
Cep295 T C 9: 15,244,264 (GRCm39) I1397M probably benign Het
Cep63 A G 9: 102,496,111 (GRCm39) S99P probably damaging Het
Coq3 T A 4: 21,899,107 (GRCm39) S147T probably benign Het
Crym A T 7: 119,801,090 (GRCm39) S20T probably benign Het
Ctr9 T A 7: 110,643,108 (GRCm39) N493K probably benign Het
Dchs2 A G 3: 83,188,751 (GRCm39) I1372V possibly damaging Het
Ddi2 G A 4: 141,412,747 (GRCm39) T55M probably benign Het
Dnah1 T C 14: 30,986,316 (GRCm39) M3724V probably damaging Het
Dst A G 1: 34,326,337 (GRCm39) I4690V probably benign Het
Ect2l T C 10: 18,039,148 (GRCm39) T429A probably benign Het
Eif3c G T 7: 126,155,538 (GRCm39) H577N probably damaging Het
Erg A G 16: 95,162,126 (GRCm39) S334P possibly damaging Het
Faf2 A G 13: 54,796,139 (GRCm39) S127G probably benign Het
Fbxl3 T A 14: 103,329,790 (GRCm39) T141S possibly damaging Het
Fbxw4 T A 19: 45,624,874 (GRCm39) M122L probably benign Het
Fgd4 T C 16: 16,271,941 (GRCm39) M476V probably damaging Het
Flvcr2 A T 12: 85,829,779 (GRCm39) I263F probably benign Het
Gadl1 A T 9: 115,794,705 (GRCm39) R293S probably benign Het
Gm11983 G T 11: 6,787,033 (GRCm39) F31L unknown Het
Gmnn A T 13: 24,940,638 (GRCm39) N70K probably benign Het
Gpr3 A G 4: 132,938,390 (GRCm39) V94A possibly damaging Het
Greb1l A G 18: 10,541,675 (GRCm39) S1141G probably benign Het
Helz2 A T 2: 180,870,792 (GRCm39) V2892E probably damaging Het
Hivep1 T A 13: 42,311,849 (GRCm39) M1363K probably benign Het
Hk1 T A 10: 62,128,118 (GRCm39) T336S possibly damaging Het
Hpgds A T 6: 65,115,229 (GRCm39) I18N possibly damaging Het
Insrr T A 3: 87,720,910 (GRCm39) L1056Q probably damaging Het
Ints10 A G 8: 69,260,139 (GRCm39) M288V probably benign Het
Itgb6 T C 2: 60,485,032 (GRCm39) D237G probably damaging Het
Kcnf1 A G 12: 17,225,303 (GRCm39) I306T probably damaging Het
Kdm3b G A 18: 34,963,212 (GRCm39) G1556D probably damaging Het
Kif5b A G 18: 6,216,892 (GRCm39) L477P probably damaging Het
Klf5 T G 14: 99,540,919 (GRCm39) *310G probably null Het
Lnx1 A G 5: 74,780,783 (GRCm39) V246A probably benign Het
Ly75 C T 2: 60,146,442 (GRCm39) E1279K probably benign Het
Lztr1 T A 16: 17,337,305 (GRCm39) C233S probably benign Het
Mfsd6l T G 11: 68,447,536 (GRCm39) I129S probably benign Het
Mrgprx2 T A 7: 48,148,938 (GRCm39) probably benign Het
Ncapd2 A T 6: 125,145,285 (GRCm39) probably benign Het
Or10ag53 T A 2: 87,082,546 (GRCm39) Y88* probably null Het
Or12e9 T A 2: 87,202,485 (GRCm39) M203K possibly damaging Het
Or2a25 G T 6: 42,888,825 (GRCm39) V123L possibly damaging Het
Or8g30 A C 9: 39,230,019 (GRCm39) V297G probably damaging Het
Pde6a A G 18: 61,397,047 (GRCm39) H631R probably damaging Het
Pfkl C T 10: 77,824,794 (GRCm39) G665D probably damaging Het
Pik3ap1 T A 19: 41,270,430 (GRCm39) E753V probably damaging Het
Pik3cd G T 4: 149,740,055 (GRCm39) R502S probably benign Het
Piwil2 T A 14: 70,627,984 (GRCm39) I762L probably benign Het
Pkd1 T A 17: 24,784,636 (GRCm39) L394* probably null Het
Plekhb2 A G 1: 34,916,046 (GRCm39) D195G probably benign Het
Plppr5 T C 3: 117,456,103 (GRCm39) M208T probably damaging Het
Polr2i G A 7: 29,932,513 (GRCm39) V115I unknown Het
Prkacb T C 3: 146,456,239 (GRCm39) S187G probably null Het
Prkag3 G T 1: 74,780,353 (GRCm39) H437Q probably benign Het
Prlr T A 15: 10,319,352 (GRCm39) Y94N probably damaging Het
Prmt6 T C 3: 110,157,214 (GRCm39) I358M probably benign Het
Psd4 A G 2: 24,287,492 (GRCm39) R475G Het
Rad51b G A 12: 79,347,417 (GRCm39) C27Y probably damaging Het
Scfd2 A G 5: 74,691,625 (GRCm39) L219P probably damaging Het
Scn5a G A 9: 119,381,142 (GRCm39) probably benign Het
Sec24d T C 3: 123,121,287 (GRCm39) V391A probably benign Het
Selenbp2 T A 3: 94,607,332 (GRCm39) L251Q probably damaging Het
Slc11a2 A G 15: 100,301,186 (GRCm39) V289A probably benign Het
Smim29 T C 17: 27,783,223 (GRCm39) D48G probably benign Het
Sox8 T A 17: 25,789,135 (GRCm39) Y121F probably damaging Het
Taar7a A T 10: 23,868,733 (GRCm39) I216N probably damaging Het
Tanc1 T A 2: 59,622,224 (GRCm39) S448T probably benign Het
Tas2r119 G A 15: 32,178,226 (GRCm39) G264D probably damaging Het
Trav7-6 A G 14: 53,954,604 (GRCm39) K65E probably benign Het
Trim17 A G 11: 58,856,057 (GRCm39) E38G probably damaging Het
Trub2 A T 2: 29,668,276 (GRCm39) probably benign Het
Ttn T A 2: 76,571,964 (GRCm39) M26310L probably damaging Het
Unc13c T G 9: 73,453,322 (GRCm39) I1823L probably benign Het
Vav2 C A 2: 27,160,151 (GRCm39) E728* probably null Het
Virma A G 4: 11,540,494 (GRCm39) D1465G probably benign Het
Vmn2r72 T G 7: 85,398,388 (GRCm39) M531L probably benign Het
Vwa3b G A 1: 37,203,597 (GRCm39) V59I possibly damaging Het
Xrcc1 G A 7: 24,271,642 (GRCm39) E542K probably benign Het
Zdhhc6 T G 19: 55,287,318 (GRCm39) T381P probably benign Het
Zdhhc8 T C 16: 18,041,141 (GRCm39) S740G probably damaging Het
Zfp106 T C 2: 120,364,019 (GRCm39) K819R 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
R1569:Sh3rf1 UTSW 8 61,837,896 (GRCm39) missense probably damaging 1.00
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
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'- TGAGATGGCTCACATTTTGGTAAG -3'
(R):5'- AGCTGAACTGTTCCCACACG -3'

Sequencing Primer
(F):5'- ACTAAGCCACTGAGTGTTCC -3'
(R):5'- GAACTGTTCCCACACGCTGATG -3'
Posted On 2021-10-11