Incidental Mutation 'R1799:Sh3rf1'
ID 202942
Institutional Source Beutler Lab
Gene Symbol Sh3rf1
Ensembl Gene ENSMUSG00000031642
Gene Name SH3 domain containing ring finger 1
Synonyms Posh, Sh3md2, 2200003J05Rik
MMRRC Submission 039829-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.255) question?
Stock # R1799 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 61676906-61849105 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 61825661 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 552 (N552I)
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: N552I

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000034060
Gene: ENSMUSG00000031642
AA Change: N552I

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: N552I

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.3%
  • 20x: 92.3%
Validation Efficiency
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: 102 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930011G23Rik A G 5: 99,382,435 (GRCm39) L271P probably benign Het
Adamts3 A C 5: 89,923,280 (GRCm39) D175E probably benign Het
Adcy4 T C 14: 56,008,929 (GRCm39) T833A probably benign Het
Adgrf5 A T 17: 43,750,958 (GRCm39) I508F probably damaging Het
Arhgap9 G T 10: 127,163,593 (GRCm39) V464L probably damaging Het
Atp10a T A 7: 58,474,182 (GRCm39) D1156E probably damaging Het
Atp2a1 A T 7: 126,049,314 (GRCm39) M576K probably benign Het
Atrx T C X: 104,891,235 (GRCm39) Q1536R probably damaging Het
Ccdc141 A C 2: 76,842,015 (GRCm39) V1472G possibly damaging Het
Cd84 A G 1: 171,700,317 (GRCm39) T145A possibly damaging Het
Celsr1 G T 15: 85,916,886 (GRCm39) N362K probably damaging Het
Cep290 G A 10: 100,352,058 (GRCm39) A755T probably benign Het
Cfap70 T A 14: 20,445,067 (GRCm39) E1071V probably damaging Het
Cps1 T C 1: 67,248,801 (GRCm39) V1176A probably damaging Het
Csf2rb2 A C 15: 78,181,268 (GRCm39) N41K probably damaging Het
Csn1s2a G A 5: 87,926,052 (GRCm39) V43M probably damaging Het
Cyp26b1 T C 6: 84,561,254 (GRCm39) D136G probably benign Het
Cyp7b1 A G 3: 18,151,616 (GRCm39) L199P probably benign Het
Dapk1 C T 13: 60,867,468 (GRCm39) T225I probably damaging Het
Dio2 T A 12: 90,696,680 (GRCm39) T103S probably benign Het
Dipk1a C A 5: 108,057,713 (GRCm39) V237F probably damaging Het
Dnhd1 T A 7: 105,304,974 (GRCm39) S339T probably benign Het
Drc1 A G 5: 30,523,841 (GRCm39) N737D probably damaging Het
Efhc1 C T 1: 21,049,762 (GRCm39) P541S probably benign Het
Elmo2 A T 2: 165,134,077 (GRCm39) I637N probably damaging Het
Eps15 T A 4: 109,240,034 (GRCm39) D492E probably damaging Het
Ermn G T 2: 57,938,249 (GRCm39) N121K probably benign Het
F5 A G 1: 164,021,100 (GRCm39) T1192A possibly damaging Het
Fbxo22 T C 9: 55,130,771 (GRCm39) F347L probably benign Het
Fbxw15 G A 9: 109,387,314 (GRCm39) S227F probably damaging Het
Foxj3 A G 4: 119,476,548 (GRCm39) N242S probably benign Het
Gjb3 G A 4: 127,220,224 (GRCm39) R103W probably damaging Het
Grm4 A G 17: 27,691,914 (GRCm39) V235A probably damaging Het
Gstm4 T C 3: 107,950,874 (GRCm39) N74S probably damaging Het
Gtf3c3 A G 1: 54,459,583 (GRCm39) V393A possibly damaging Het
Hltf T A 3: 20,159,855 (GRCm39) L702H probably damaging Het
Inpp4a T A 1: 37,432,059 (GRCm39) V153E possibly damaging Het
Kmt5c T C 7: 4,745,729 (GRCm39) probably null Het
Kynu A G 2: 43,494,169 (GRCm39) R201G possibly damaging Het
Lrp2 T A 2: 69,333,874 (GRCm39) T1456S probably benign Het
Lrrc40 G A 3: 157,742,441 (GRCm39) V19I probably benign Het
M1ap T A 6: 82,982,491 (GRCm39) C258* probably null Het
Man2a1 T C 17: 65,059,452 (GRCm39) L1113P probably benign Het
Man2a1 C T 17: 64,976,492 (GRCm39) R427W probably damaging Het
Meikin C A 11: 54,308,613 (GRCm39) Q404K probably benign Het
Mfsd4a T C 1: 131,981,334 (GRCm39) I222V possibly damaging Het
N4bp2 A G 5: 65,964,168 (GRCm39) N739S possibly damaging Het
Ncoa2 A T 1: 13,232,517 (GRCm39) probably null Het
Nisch G T 14: 30,899,228 (GRCm39) probably benign Het
Nmur2 A G 11: 55,920,447 (GRCm39) V266A probably damaging Het
Npcd G A 15: 79,712,987 (GRCm39) R147C probably damaging Het
Or4q3 T A 14: 50,583,537 (GRCm39) M121L probably benign Het
Or5ac25 T A 16: 59,182,243 (GRCm39) I113F probably benign Het
Pals2 T A 6: 50,173,525 (GRCm39) M463K probably damaging Het
Parp4 A T 14: 56,885,589 (GRCm39) H1556L unknown Het
Pcdh9 G T 14: 94,126,107 (GRCm39) A21E probably benign Het
Phtf1 A G 3: 103,903,958 (GRCm39) E436G probably benign Het
Piezo2 C A 18: 63,165,911 (GRCm39) probably null Het
Piezo2 T C 18: 63,241,158 (GRCm39) Y690C probably damaging Het
Pla2g4f T C 2: 120,141,549 (GRCm39) R183G possibly damaging Het
Plxnd1 T C 6: 115,971,018 (GRCm39) D250G probably damaging Het
Ppig A G 2: 69,579,744 (GRCm39) D426G unknown Het
Ppp3cb T C 14: 20,574,540 (GRCm39) E185G possibly damaging Het
Qsox1 A T 1: 155,670,364 (GRCm39) M151K probably null Het
Ralgapa2 T C 2: 146,184,648 (GRCm39) E1453G probably benign Het
Rnf167 G A 11: 70,540,838 (GRCm39) V191I probably benign Het
Rp1 T C 1: 4,419,055 (GRCm39) K686E possibly damaging Het
Ryr1 T G 7: 28,767,046 (GRCm39) Q2979P probably damaging Het
Scaf1 T A 7: 44,657,443 (GRCm39) I479F probably damaging Het
Septin8 A G 11: 53,425,310 (GRCm39) T68A probably benign Het
Shoc1 A T 4: 59,099,383 (GRCm39) V103D possibly damaging Het
Slc1a3 A G 15: 8,717,888 (GRCm39) L68P probably damaging Het
Slc39a6 G A 18: 24,718,524 (GRCm39) P511L probably benign Het
Slc9c1 A G 16: 45,374,652 (GRCm39) Y339C probably damaging Het
Smarcal1 G T 1: 72,625,120 (GRCm39) C89F probably damaging Het
Smu1 A T 4: 40,745,537 (GRCm39) M261K probably damaging Het
Spag8 T G 4: 43,653,087 (GRCm39) probably benign Het
Spag8 T C 4: 43,653,345 (GRCm39) probably benign Het
Spata31d1a T C 13: 59,851,216 (GRCm39) D304G probably benign Het
Spdl1 A T 11: 34,711,856 (GRCm39) L298* probably null Het
Stac2 C T 11: 97,930,444 (GRCm39) probably null Het
Stag1 A G 9: 100,835,515 (GRCm39) probably null Het
Stpg2 C T 3: 139,125,542 (GRCm39) P445L probably damaging Het
Sult2a8 A T 7: 14,157,451 (GRCm39) V128E probably damaging Het
Synm A G 7: 67,385,707 (GRCm39) F210L probably damaging Het
Tbck C G 3: 132,480,263 (GRCm39) A714G probably benign Het
Tcerg1 A T 18: 42,694,012 (GRCm39) Y711F possibly damaging Het
Tnfrsf25 A G 4: 152,201,465 (GRCm39) T98A probably benign Het
Togaram2 T C 17: 71,998,450 (GRCm39) S218P probably damaging Het
Tpp1 A T 7: 105,399,515 (GRCm39) D84E probably benign Het
Trim30d G T 7: 104,132,682 (GRCm39) Q202K probably damaging Het
Trim37 T A 11: 87,068,845 (GRCm39) V397E probably damaging Het
Triml1 A T 8: 43,583,512 (GRCm39) I363N probably damaging Het
Trpm6 T A 19: 18,869,363 (GRCm39) probably null Het
Tsc2 T C 17: 24,823,382 (GRCm39) S1055G probably benign Het
Ubr5 T C 15: 37,989,621 (GRCm39) D2065G probably damaging Het
Uggt2 G T 14: 119,269,688 (GRCm39) P948Q probably benign Het
Vps13c A T 9: 67,851,399 (GRCm39) S2345C probably damaging Het
Wtap G T 17: 13,199,771 (GRCm39) R48S possibly damaging Het
Zbtb38 A G 9: 96,570,934 (GRCm39) V50A probably damaging Het
Zcchc2 T A 1: 105,958,017 (GRCm39) S829R probably benign Het
Zfp385b T C 2: 77,246,316 (GRCm39) D237G probably benign 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
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'- TGGTTCTGAGACCATTCACC -3'
(R):5'- TTTGAGGCCCATTCCCCATG -3'

Sequencing Primer
(F):5'- GAGACCATTCACCGTCTCG -3'
(R):5'- ATGCGCTTACCTGTCCTCAC -3'
Posted On 2014-06-23