Incidental Mutation 'R2680:Sh3rf2'
ID 250980
Institutional Source Beutler Lab
Gene Symbol Sh3rf2
Ensembl Gene ENSMUSG00000057719
Gene Name SH3 domain containing ring finger 2
Synonyms 9130023G24Rik, RNF158
MMRRC Submission 040433-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2680 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 42186732-42292025 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 42234715 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 166 (E166G)
Ref Sequence ENSEMBL: ENSMUSP00000074247 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072008] [ENSMUST00000074679]
AlphaFold Q8BZT2
Predicted Effect probably damaging
Transcript: ENSMUST00000072008
AA Change: E166G

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000071896
Gene: ENSMUSG00000057719
AA Change: E166G

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 damaging
Transcript: ENSMUST00000074679
AA Change: E166G

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000074247
Gene: ENSMUSG00000057719
AA Change: E166G

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
BC024139 A G 15: 76,005,939 (GRCm39) W421R probably damaging Het
Car11 T C 7: 45,351,909 (GRCm39) S113P probably benign Het
Ccdc146 C T 5: 21,510,267 (GRCm39) A582T possibly damaging Het
Cct8l1 A G 5: 25,722,133 (GRCm39) T283A probably benign Het
Ckap5 A G 2: 91,419,043 (GRCm39) I1118V probably benign Het
Copa C T 1: 171,948,971 (GRCm39) Q1199* probably null Het
Cpd A T 11: 76,681,825 (GRCm39) N1140K probably benign Het
Cspp1 A G 1: 10,174,530 (GRCm39) D661G probably damaging Het
Dab2 A G 15: 6,466,474 (GRCm39) Q729R possibly damaging Het
Dnah9 T C 11: 65,924,751 (GRCm39) I2168V probably benign Het
Dync1h1 G A 12: 110,609,681 (GRCm39) R2821H probably damaging Het
Ercc5 T C 1: 44,196,133 (GRCm39) V42A probably benign Het
Evc A G 5: 37,467,581 (GRCm39) V566A probably benign Het
Fcrl2 T C 3: 87,164,656 (GRCm39) Y290C probably damaging Het
Frmd4a A G 2: 4,539,364 (GRCm39) R171G probably damaging Het
Galnt17 G A 5: 131,140,661 (GRCm39) P152L probably damaging Het
Gfi1 A G 5: 107,869,297 (GRCm39) L245P probably damaging Het
Heatr4 T C 12: 84,027,237 (GRCm39) K7E possibly damaging Het
Ifit3b A G 19: 34,589,705 (GRCm39) N294D probably benign Het
Ift74 A G 4: 94,541,265 (GRCm39) Y230C probably damaging Het
Igsf10 C T 3: 59,232,875 (GRCm39) V1953I probably benign Het
Ikzf5 T C 7: 130,998,490 (GRCm39) D14G probably damaging Het
Il12rb2 T A 6: 67,331,789 (GRCm39) T259S possibly damaging Het
Itgae T A 11: 73,005,752 (GRCm39) D305E probably damaging Het
Kif23 A C 9: 61,844,758 (GRCm39) D90E probably benign Het
Kprp A G 3: 92,731,770 (GRCm39) F427L unknown Het
Lmnb1 T A 18: 56,864,177 (GRCm39) Y261N probably damaging Het
Megf8 T C 7: 25,016,981 (GRCm39) V17A probably benign Het
Mfap4 T C 11: 61,378,057 (GRCm39) Y190H probably benign Het
Mlh1 T C 9: 111,065,085 (GRCm39) probably null Het
Mocos C A 18: 24,809,686 (GRCm39) Q430K probably damaging Het
Ndst2 A G 14: 20,774,822 (GRCm39) F794L probably damaging Het
Nedd4l A T 18: 65,296,201 (GRCm39) I197F possibly damaging Het
Nefm A G 14: 68,361,235 (GRCm39) L343P probably damaging Het
Nfatc4 A G 14: 56,070,291 (GRCm39) probably benign Het
Nlrp4a T A 7: 26,148,655 (GRCm39) probably null Het
Nlrp4f A T 13: 65,342,157 (GRCm39) L496* probably null Het
Nom1 T C 5: 29,648,415 (GRCm39) F654S probably damaging Het
Or4k2 A T 14: 50,424,304 (GRCm39) Y123* probably null Het
Pcdhac2 A G 18: 37,278,639 (GRCm39) K540E possibly damaging Het
Pde4dip T C 3: 97,608,933 (GRCm39) N1974S possibly damaging Het
Pik3c3 T C 18: 30,477,131 (GRCm39) probably null Het
Pik3ca C T 3: 32,490,697 (GRCm39) R115* probably null Het
Pik3ca T C 3: 32,498,034 (GRCm39) I492T probably benign Het
Ppp1ca G A 19: 4,244,594 (GRCm39) E218K possibly damaging Het
Prex1 G T 2: 166,443,692 (GRCm39) D492E possibly damaging Het
Scaf8 T C 17: 3,247,866 (GRCm39) V1063A possibly damaging Het
Scn3a G T 2: 65,366,880 (GRCm39) N47K probably benign Het
Sec61a2 G T 2: 5,878,556 (GRCm39) N348K probably benign Het
Slc19a2 C A 1: 164,076,982 (GRCm39) T54K probably damaging Het
Slc8a3 T A 12: 81,249,113 (GRCm39) I765F probably damaging Het
Snap91 A T 9: 86,761,603 (GRCm39) M1K probably null Het
Spef1l T C 7: 139,558,474 (GRCm39) D41G probably damaging Het
Strc T C 2: 121,195,592 (GRCm39) H1619R probably damaging Het
Tbl1xr1 C T 3: 22,245,615 (GRCm39) T207M possibly damaging Het
Tchp T C 5: 114,847,580 (GRCm39) probably null Het
Tln1 A T 4: 43,539,668 (GRCm39) F1581Y probably damaging Het
Tnxb T C 17: 34,922,594 (GRCm39) V2469A possibly damaging Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Vmn1r225 T A 17: 20,723,055 (GRCm39) F165L probably benign Het
Vmn2r13 T C 5: 109,322,178 (GRCm39) D173G possibly damaging Het
Vmn2r6 A C 3: 64,445,707 (GRCm39) S673A possibly damaging Het
Vta1 G A 10: 14,581,171 (GRCm39) probably benign Het
Wwc1 T C 11: 35,766,756 (GRCm39) T500A probably benign Het
Zfp784 T A 7: 5,039,116 (GRCm39) Q147H possibly damaging 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
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
R6366:Sh3rf2 UTSW 18 42,286,130 (GRCm39) missense probably benign 0.00
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'- CCACACACGATTATCATTAGTAGTTGG -3'
(R):5'- CTCTGGGTTCTGCCATAGTCTG -3'

Sequencing Primer
(F):5'- GTAGTTGGTATGAGACATTCCATTC -3'
(R):5'- CTGTATGTAGTGTGGGACTCTTACC -3'
Posted On 2014-12-04