Incidental Mutation 'R2330:Sh3rf1'
ID 245838
Institutional Source Beutler Lab
Gene Symbol Sh3rf1
Ensembl Gene ENSMUSG00000031642
Gene Name SH3 domain containing ring finger 1
Synonyms Posh, Sh3md2, 2200003J05Rik
MMRRC Submission 040321-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.255) question?
Stock # R2330 (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 61679321 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 121 (P121L)
Ref Sequence ENSEMBL: ENSMUSP00000148118 (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: P121L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000034060
Gene: ENSMUSG00000031642
AA Change: P121L

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: P121L

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
Meta Mutation Damage Score 0.0598 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.1%
Validation Efficiency 100% (31/31)
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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp9a A G 2: 168,481,849 (GRCm39) S958P probably benign Het
Cdh15 G A 8: 123,583,374 (GRCm39) R59H probably benign Het
Clasp2 T C 9: 113,705,372 (GRCm39) V594A probably damaging Het
Col12a1 A G 9: 79,540,939 (GRCm39) I2396T probably damaging Het
Col1a2 T A 6: 4,528,300 (GRCm39) probably benign Het
Crygs C T 16: 22,624,301 (GRCm39) G102D possibly damaging Het
Dnaja3 T A 16: 4,507,880 (GRCm39) D127E probably benign Het
Etnppl T C 3: 130,424,224 (GRCm39) L332P probably damaging Het
Gm4559 A T 7: 141,827,833 (GRCm39) C90S unknown Het
Gramd1c T C 16: 43,803,566 (GRCm39) N616D probably benign Het
Hmcn1 A G 1: 150,528,429 (GRCm39) probably benign Het
Hydin C A 8: 111,291,641 (GRCm39) Q3378K probably benign Het
Lin7b A G 7: 45,019,337 (GRCm39) probably null Het
Mex3c G A 18: 73,706,799 (GRCm39) V229I probably damaging Het
Micall2 C G 5: 139,703,270 (GRCm39) G189R probably damaging Het
Ncam2 A G 16: 81,309,809 (GRCm39) H433R probably benign Het
Or2t45 A T 11: 58,669,825 (GRCm39) S291C probably damaging Het
Or4c12 T C 2: 89,774,297 (GRCm39) N54S probably benign Het
Or6c5 C T 10: 129,074,908 (GRCm39) Q297* probably null Het
Pml A T 9: 58,141,854 (GRCm39) V326E probably damaging Het
Prl2c5 T A 13: 13,366,378 (GRCm39) M219K possibly damaging Het
Rfc1 A T 5: 65,470,312 (GRCm39) I65N possibly damaging Het
Rsbn1 T C 3: 103,821,816 (GRCm39) L17P probably damaging Het
Serpina3m A G 12: 104,357,963 (GRCm39) K296E possibly damaging Het
Spag6l T C 16: 16,646,949 (GRCm39) Q19R probably benign Het
Tgm6 A C 2: 129,985,162 (GRCm39) D344A probably damaging Het
Zfp7 T C 15: 76,775,509 (GRCm39) I517T probably damaging Het
Zfp831 T A 2: 174,489,882 (GRCm39) Y1216* probably null 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
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'- AATGCCGGACTCTTGTTGGC -3'
(R):5'- GTCGGATCCAGTCTTATTTCAAGAG -3'

Sequencing Primer
(F):5'- GTCGACGAGCTCCCCAGTAAC -3'
(R):5'- AGAAAATAAGGTCCTAAGGTTGAATC -3'
Posted On 2014-10-30