Incidental Mutation 'R6640:Sh3rf2'
ID 525750
Institutional Source Beutler Lab
Gene Symbol Sh3rf2
Ensembl Gene ENSMUSG00000057719
Gene Name SH3 domain containing ring finger 2
Synonyms 9130023G24Rik, RNF158
MMRRC Submission 044761-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6640 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 42186732-42292025 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 42234705 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 163 (Y163N)
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: Y163N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000071896
Gene: ENSMUSG00000057719
AA Change: Y163N

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: Y163N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000074247
Gene: ENSMUSG00000057719
AA Change: Y163N

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: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.6%
Validation Efficiency 97% (31/32)
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 A T 6: 128,530,248 (GRCm39) N936K probably benign Het
Abca2 A T 2: 25,337,015 (GRCm39) Y2318F possibly damaging Het
Aldh1b1 A G 4: 45,803,868 (GRCm39) T469A possibly damaging Het
Aoc1l1 A G 6: 48,954,605 (GRCm39) D581G probably benign Het
Ccdc136 A G 6: 29,412,959 (GRCm39) D382G possibly damaging Het
Dapk1 A G 13: 60,864,628 (GRCm39) K141E probably damaging Het
Dnah6 A T 6: 73,001,276 (GRCm39) W3973R probably damaging Het
Dock10 G T 1: 80,511,555 (GRCm39) S1518* probably null Het
Elovl5 C A 9: 77,887,195 (GRCm39) Y195* probably null Het
Fbxl21 T A 13: 56,684,822 (GRCm39) W309R probably damaging Het
Gm10801 C CGTG 2: 98,494,152 (GRCm39) probably null Het
Gpx1 A G 9: 108,217,295 (GRCm39) D133G probably damaging Het
Hoxd1 T A 2: 74,593,606 (GRCm39) V54E probably damaging Het
Kcnh3 T C 15: 99,139,649 (GRCm39) V876A probably benign Het
Klri2 G C 6: 129,709,158 (GRCm39) F231L probably benign Het
Mogat1 T G 1: 78,500,411 (GRCm39) S158R probably damaging Het
Myo1c C T 11: 75,562,461 (GRCm39) P918S probably benign Het
Or2ag13 T A 7: 106,313,247 (GRCm39) I214F probably damaging Het
Or8k16 T A 2: 85,520,279 (GRCm39) C169S probably damaging Het
Otog G A 7: 45,911,167 (GRCm39) A673T possibly damaging Het
Pigm T C 1: 172,205,254 (GRCm39) V330A probably damaging Het
Rab33b A G 3: 51,391,900 (GRCm39) T50A possibly damaging Het
Raver2 C T 4: 100,988,500 (GRCm39) P371L probably damaging Het
Rpl15-ps6 G T 15: 52,341,016 (GRCm39) noncoding transcript Het
Slc1a1 T C 19: 28,871,970 (GRCm39) probably null Het
Slc6a18 T A 13: 73,812,401 (GRCm39) Y563F possibly damaging Het
Sp3 A G 2: 72,801,458 (GRCm39) L185P possibly damaging Het
Thbs2 T C 17: 14,893,630 (GRCm39) D850G possibly damaging Het
Tmem161b C A 13: 84,370,537 (GRCm39) probably benign Het
Tmtc2 T A 10: 105,409,610 (GRCm39) M1L probably benign Het
Trpm2 C T 10: 77,773,660 (GRCm39) R585Q probably benign Het
Trpm3 T A 19: 22,955,946 (GRCm39) I1126K probably damaging Het
Ugt1a6b A C 1: 88,035,516 (GRCm39) T285P probably benign Het
Vps13b A G 15: 35,617,842 (GRCm39) T1181A 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
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
R6366:Sh3rf2 UTSW 18 42,286,130 (GRCm39) missense probably benign 0.00
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'- TGGTATGAGACATTCCATTCTTCCAC -3'
(R):5'- GCAAGTATTAAACAATGGACTCTGG -3'

Sequencing Primer
(F):5'- GACATTCCATTCTTCCACCCCTAATC -3'
(R):5'- AAACAATGGACTCTGGGTTCTGC -3'
Posted On 2018-06-22