Incidental Mutation 'R6366:Sh3rf2'
ID 512716
Institutional Source Beutler Lab
Gene Symbol Sh3rf2
Ensembl Gene ENSMUSG00000057719
Gene Name SH3 domain containing ring finger 2
Synonyms 9130023G24Rik, RNF158
MMRRC Submission 044516-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6366 (G1)
Quality Score 225.009
Status Not validated
Chromosome 18
Chromosomal Location 42186732-42292025 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 42286130 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 541 (V541A)
Ref Sequence ENSEMBL: ENSMUSP00000071896 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072008] [ENSMUST00000074679]
AlphaFold Q8BZT2
PDB Structure Solution structure of the SH3 domain of the mouse hypothetical protein SH3RF2 [SOLUTION NMR]
The solution structure of the first SH3 domain of mouse SH3 domain containing ring finger 2 [SOLUTION NMR]
Predicted Effect probably benign
Transcript: ENSMUST00000072008
AA Change: V541A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000071896
Gene: ENSMUSG00000057719
AA Change: V541A

DomainStartEndE-ValueType
RING 12 52 7.38e-8 SMART
low complexity region 63 73 N/A INTRINSIC
SH3 128 183 4.66e-17 SMART
SH3 190 251 1.45e-13 SMART
low complexity region 357 366 N/A INTRINSIC
SH3 385 442 3.27e-12 SMART
low complexity region 500 514 N/A INTRINSIC
low complexity region 614 631 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000074679
AA Change: V509A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000074247
Gene: ENSMUSG00000057719
AA Change: V509A

DomainStartEndE-ValueType
RING 12 52 7.38e-8 SMART
low complexity region 63 73 N/A INTRINSIC
SH3 128 183 4.66e-17 SMART
low complexity region 325 334 N/A INTRINSIC
SH3 353 410 3.27e-12 SMART
low complexity region 468 482 N/A INTRINSIC
low complexity region 582 599 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128066
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132681
Meta Mutation Damage Score 0.0813 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.7%
  • 10x: 98.0%
  • 20x: 93.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agl A G 3: 116,584,766 (GRCm39) F185L probably damaging Het
Ank3 A G 10: 69,835,188 (GRCm39) D131G probably damaging Het
Boc T C 16: 44,308,015 (GRCm39) K947E probably benign Het
Ccdc110 A G 8: 46,396,425 (GRCm39) E772G probably damaging Het
Ccdc7a A G 8: 129,582,473 (GRCm39) V1055A unknown Het
Chd1l A G 3: 97,501,476 (GRCm39) V190A probably benign Het
Chl1 C A 6: 103,706,197 (GRCm39) N396K possibly damaging Het
CN725425 T G 15: 91,131,124 (GRCm39) Y420D possibly damaging Het
Col6a1 A T 10: 76,546,804 (GRCm39) I806N unknown Het
Csmd2 A G 4: 128,377,245 (GRCm39) K2042E probably benign Het
Eif4a1 G T 11: 69,561,781 (GRCm39) D15E probably benign Het
Etfb T C 7: 43,102,365 (GRCm39) L119S probably damaging Het
Fbxo42 T A 4: 140,927,260 (GRCm39) S513R probably benign Het
Gys2 C A 6: 142,409,120 (GRCm39) C45F probably benign Het
Hspa1a G A 17: 35,189,500 (GRCm39) P468S probably damaging Het
Kdm2a G T 19: 4,374,960 (GRCm39) Q724K probably benign Het
Lama3 G T 18: 12,615,194 (GRCm39) G1373W probably damaging Het
Lhx1 A T 11: 84,413,034 (GRCm39) F84Y probably damaging Het
Lpxn G A 19: 12,802,163 (GRCm39) V163M probably benign Het
Lrrc7 T C 3: 157,841,012 (GRCm39) Q1389R probably benign Het
Lrtm2 T C 6: 119,294,238 (GRCm39) R298G probably damaging Het
Ltv1 A G 10: 13,056,739 (GRCm39) V268A probably benign Het
Mgat4d T A 8: 84,095,580 (GRCm39) probably null Het
Mknk2 C A 10: 80,507,767 (GRCm39) R33L probably damaging Het
Ms4a1 A G 19: 11,236,062 (GRCm39) S42P probably damaging Het
Muc16 T C 9: 18,557,340 (GRCm39) I2984M unknown Het
Mup12 A C 4: 60,696,657 (GRCm39) F74V probably damaging Het
Nacad A C 11: 6,551,196 (GRCm39) L665R probably benign Het
Pde6a T A 18: 61,398,142 (GRCm39) probably null Het
Plb1 A G 5: 32,471,429 (GRCm39) N579D possibly damaging Het
Podn T A 4: 107,876,001 (GRCm39) I552F possibly damaging Het
Potefam1 A G 2: 110,999,937 (GRCm39) probably null Het
Pramel32 T A 4: 88,547,102 (GRCm39) I106F probably damaging Het
Prl3b1 A T 13: 27,427,875 (GRCm39) M62L probably benign Het
Ptpn13 G T 5: 103,698,919 (GRCm39) R1134L probably damaging Het
Rpl37 T A 15: 5,147,990 (GRCm39) probably null Het
Samd4 T A 14: 47,311,607 (GRCm39) probably null Het
Shcbp1 A G 8: 4,799,380 (GRCm39) V335A probably damaging Het
Slc7a7 T C 14: 54,612,057 (GRCm39) Y282C probably damaging Het
Spag7 T C 11: 70,555,418 (GRCm39) K125E possibly damaging Het
Spata31e4 T C 13: 50,855,972 (GRCm39) Y537H probably benign Het
Sptan1 T C 2: 29,910,467 (GRCm39) S1831P possibly damaging Het
Stab1 T C 14: 30,863,395 (GRCm39) K2097R probably benign Het
Stk38 A G 17: 29,193,338 (GRCm39) W364R probably benign Het
Tectb G A 19: 55,170,350 (GRCm39) G67D probably damaging Het
Ttll9 G T 2: 152,833,525 (GRCm39) D208Y probably damaging Het
Tyro3 G A 2: 119,647,156 (GRCm39) D758N probably damaging Het
Tyw1 T C 5: 130,310,792 (GRCm39) probably benign Het
Unc5b C T 10: 60,614,091 (GRCm39) A253T probably benign Het
Wtap A T 17: 13,186,945 (GRCm39) probably null Het
Other mutations in Sh3rf2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00977:Sh3rf2 APN 18 42,244,283 (GRCm39) missense probably benign 0.00
IGL01012:Sh3rf2 APN 18 42,187,257 (GRCm39) missense possibly damaging 0.50
IGL01286:Sh3rf2 APN 18 42,272,676 (GRCm39) critical splice donor site probably null
IGL02369:Sh3rf2 APN 18 42,289,222 (GRCm39) nonsense probably null
IGL02563:Sh3rf2 APN 18 42,289,207 (GRCm39) missense probably damaging 0.99
BB004:Sh3rf2 UTSW 18 42,244,487 (GRCm39) missense probably benign
BB014:Sh3rf2 UTSW 18 42,244,487 (GRCm39) missense probably benign
PIT4445001:Sh3rf2 UTSW 18 42,286,229 (GRCm39) missense probably benign 0.00
R0141:Sh3rf2 UTSW 18 42,289,122 (GRCm39) missense probably benign 0.02
R0270:Sh3rf2 UTSW 18 42,237,146 (GRCm39) missense probably damaging 0.99
R1447:Sh3rf2 UTSW 18 42,234,736 (GRCm39) missense probably benign 0.00
R1491:Sh3rf2 UTSW 18 42,187,004 (GRCm39) missense probably damaging 0.99
R1539:Sh3rf2 UTSW 18 42,282,887 (GRCm39) missense probably damaging 1.00
R1595:Sh3rf2 UTSW 18 42,244,353 (GRCm39) missense probably damaging 1.00
R1749:Sh3rf2 UTSW 18 42,286,359 (GRCm39) missense probably damaging 1.00
R1864:Sh3rf2 UTSW 18 42,187,046 (GRCm39) missense probably damaging 0.99
R1942:Sh3rf2 UTSW 18 42,282,689 (GRCm39) missense probably damaging 1.00
R1998:Sh3rf2 UTSW 18 42,274,148 (GRCm39) missense probably damaging 0.99
R2331:Sh3rf2 UTSW 18 42,186,928 (GRCm39) missense probably benign 0.04
R2680:Sh3rf2 UTSW 18 42,234,715 (GRCm39) missense probably damaging 0.98
R2938:Sh3rf2 UTSW 18 42,282,789 (GRCm39) missense probably benign 0.09
R2940:Sh3rf2 UTSW 18 42,244,505 (GRCm39) critical splice donor site probably null
R3753:Sh3rf2 UTSW 18 42,244,373 (GRCm39) missense probably damaging 1.00
R3861:Sh3rf2 UTSW 18 42,286,384 (GRCm39) missense probably damaging 1.00
R4322:Sh3rf2 UTSW 18 42,244,464 (GRCm39) missense probably damaging 1.00
R5076:Sh3rf2 UTSW 18 42,186,989 (GRCm39) missense probably damaging 1.00
R5169:Sh3rf2 UTSW 18 42,286,126 (GRCm39) missense probably benign 0.00
R5228:Sh3rf2 UTSW 18 42,286,246 (GRCm39) missense possibly damaging 0.69
R5437:Sh3rf2 UTSW 18 42,274,079 (GRCm39) missense probably benign 0.44
R5792:Sh3rf2 UTSW 18 42,244,203 (GRCm39) missense probably damaging 0.99
R5820:Sh3rf2 UTSW 18 42,274,112 (GRCm39) missense possibly damaging 0.94
R6159:Sh3rf2 UTSW 18 42,289,200 (GRCm39) missense probably damaging 0.96
R6640:Sh3rf2 UTSW 18 42,234,705 (GRCm39) missense probably damaging 1.00
R6897:Sh3rf2 UTSW 18 42,234,670 (GRCm39) missense possibly damaging 0.91
R6995:Sh3rf2 UTSW 18 42,234,606 (GRCm39) missense probably damaging 1.00
R7097:Sh3rf2 UTSW 18 42,237,227 (GRCm39) splice site probably null
R7122:Sh3rf2 UTSW 18 42,237,227 (GRCm39) splice site probably null
R7432:Sh3rf2 UTSW 18 42,187,091 (GRCm39) missense probably damaging 0.99
R7444:Sh3rf2 UTSW 18 42,234,604 (GRCm39) missense probably damaging 1.00
R7654:Sh3rf2 UTSW 18 42,237,173 (GRCm39) missense probably damaging 1.00
R7703:Sh3rf2 UTSW 18 42,289,201 (GRCm39) missense probably benign 0.04
R7732:Sh3rf2 UTSW 18 42,234,753 (GRCm39) missense probably damaging 1.00
R7835:Sh3rf2 UTSW 18 42,244,235 (GRCm39) missense probably benign 0.25
R7927:Sh3rf2 UTSW 18 42,244,487 (GRCm39) missense probably benign
R8053:Sh3rf2 UTSW 18 42,286,087 (GRCm39) missense probably damaging 1.00
R8144:Sh3rf2 UTSW 18 42,274,124 (GRCm39) missense probably benign 0.01
R8343:Sh3rf2 UTSW 18 42,244,493 (GRCm39) missense probably damaging 0.99
R9145:Sh3rf2 UTSW 18 42,282,746 (GRCm39) missense
R9328:Sh3rf2 UTSW 18 42,274,161 (GRCm39) missense probably benign 0.08
R9570:Sh3rf2 UTSW 18 42,272,620 (GRCm39) missense possibly damaging 0.75
R9668:Sh3rf2 UTSW 18 42,244,347 (GRCm39) missense probably benign 0.31
R9676:Sh3rf2 UTSW 18 42,282,860 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TGCCAGCATTCCCCAAATG -3'
(R):5'- GTGGATCCTGGTCTTGCTAC -3'

Sequencing Primer
(F):5'- TAGGTCACCTTTGAGAGACCC -3'
(R):5'- CTACCTCTGTTGATGCAGGTCAG -3'
Posted On 2018-04-27