Incidental Mutation 'R8499:Sh3glb2'
ID 658399
Institutional Source Beutler Lab
Gene Symbol Sh3glb2
Ensembl Gene ENSMUSG00000026860
Gene Name SH3-domain GRB2-like endophilin B2
Synonyms
MMRRC Submission 067941-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.219) question?
Stock # R8499 (G1)
Quality Score 142.008
Status Not validated
Chromosome 2
Chromosomal Location 30234821-30249349 bp(-) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) A to T at 30249216 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 1 (M1K)
Ref Sequence ENSEMBL: ENSMUSP00000028214 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028214] [ENSMUST00000100215] [ENSMUST00000113620] [ENSMUST00000113621] [ENSMUST00000163668]
AlphaFold Q8R3V5
Predicted Effect probably null
Transcript: ENSMUST00000028214
AA Change: M1K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000028214
Gene: ENSMUSG00000026860
AA Change: M1K

DomainStartEndE-ValueType
BAR 7 280 8.25e-92 SMART
low complexity region 288 334 N/A INTRINSIC
SH3 338 395 2.16e-12 SMART
Predicted Effect probably null
Transcript: ENSMUST00000100215
AA Change: M1K

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000097788
Gene: ENSMUSG00000026860
AA Change: M1K

DomainStartEndE-ValueType
BAR 7 280 4.42e-92 SMART
low complexity region 293 339 N/A INTRINSIC
SH3 343 400 2.16e-12 SMART
Predicted Effect probably null
Transcript: ENSMUST00000113620
AA Change: M1K

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000109250
Gene: ENSMUSG00000026860
AA Change: M1K

DomainStartEndE-ValueType
BAR 7 259 3.85e-92 SMART
low complexity region 267 313 N/A INTRINSIC
SH3 317 374 2.16e-12 SMART
Predicted Effect probably null
Transcript: ENSMUST00000113621
AA Change: M1K

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000109251
Gene: ENSMUSG00000026860
AA Change: M1K

DomainStartEndE-ValueType
BAR 7 284 5.36e-91 SMART
low complexity region 297 343 N/A INTRINSIC
SH3 347 404 2.16e-12 SMART
Predicted Effect probably null
Transcript: ENSMUST00000163668
AA Change: M1K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000131545
Gene: ENSMUSG00000026860
AA Change: M1K

DomainStartEndE-ValueType
BAR 7 259 2.06e-92 SMART
low complexity region 272 318 N/A INTRINSIC
SH3 322 379 2.16e-12 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 100% (49/49)
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam25 A G 8: 41,208,189 (GRCm39) D485G probably damaging Het
Ap4b1 G A 3: 103,728,018 (GRCm39) R344Q probably damaging Het
Apol7c G T 15: 77,410,280 (GRCm39) P222Q possibly damaging Het
Atf6b T C 17: 34,869,796 (GRCm39) L272P probably damaging Het
Atp11b G T 3: 35,864,854 (GRCm39) R559I probably benign Het
Bhmt T A 13: 93,756,600 (GRCm39) I343F probably benign Het
Btbd7 A T 12: 102,754,631 (GRCm39) F712I probably damaging Het
Card14 T C 11: 119,222,070 (GRCm39) L455P probably benign Het
Cast A T 13: 74,946,835 (GRCm39) H26Q probably benign Het
Clcn1 A G 6: 42,284,133 (GRCm39) N567S probably damaging Het
Cnot6l A T 5: 96,225,176 (GRCm39) W506R probably damaging Het
Dynap T A 18: 70,374,044 (GRCm39) I161L unknown Het
Eif4g3 A C 4: 137,893,239 (GRCm39) T996P probably damaging Het
Exoc8 A G 8: 125,623,849 (GRCm39) Y173H probably benign Het
Fbll1 C T 11: 35,688,907 (GRCm39) V119M probably damaging Het
Fbxw22 A T 9: 109,214,068 (GRCm39) F249L probably benign Het
Fxyd1 C A 7: 30,752,529 (GRCm39) probably benign Het
Grhl3 C A 4: 135,276,549 (GRCm39) probably null Het
Grk4 A G 5: 34,902,690 (GRCm39) E414G possibly damaging Het
H2bc8 T A 13: 23,755,880 (GRCm39) S92T probably benign Het
H2-Q5 A G 17: 35,613,820 (GRCm39) D123G Het
H2-Q5 C T 17: 35,613,945 (GRCm39) R165* probably null Het
Hgf A T 5: 16,771,854 (GRCm39) E160D probably damaging Het
Ifi211 T C 1: 173,733,086 (GRCm39) I192V probably benign Het
Klk1b22 T C 7: 43,762,144 (GRCm39) F7L probably benign Het
Lcmt1 C A 7: 123,029,371 (GRCm39) T331N probably benign Het
Lrrc36 A T 8: 106,176,168 (GRCm39) T181S possibly damaging Het
Ltbp3 T A 19: 5,798,712 (GRCm39) S520T probably benign Het
Nacc1 A T 8: 85,403,345 (GRCm39) C177S probably damaging Het
Nedd4l T A 18: 65,342,728 (GRCm39) V888E probably damaging Het
Oc90 C T 15: 65,753,405 (GRCm39) G305S probably damaging Het
Or51a25 A G 7: 102,372,932 (GRCm39) V255A probably damaging Het
Or52i2 T A 7: 102,320,012 (GRCm39) I295N probably damaging Het
Pappa2 T A 1: 158,764,092 (GRCm39) D473V probably damaging Het
Pou2f2 C A 7: 24,799,623 (GRCm39) G117C probably damaging Het
Prkci A G 3: 31,079,366 (GRCm39) H68R probably damaging Het
Pygm A G 19: 6,440,392 (GRCm39) K479E probably damaging Het
Qpct A G 17: 79,384,996 (GRCm39) D212G probably damaging Het
Slc22a5 A G 11: 53,758,469 (GRCm39) S444P probably damaging Het
Snai3 G A 8: 123,183,144 (GRCm39) H134Y probably benign Het
Synpo T C 18: 60,736,044 (GRCm39) D395G probably damaging Het
Tmem63c C T 12: 87,119,738 (GRCm39) T344I probably damaging Het
Tnfsf14 A G 17: 57,497,534 (GRCm39) Y233H Het
Ttn A G 2: 76,749,335 (GRCm39) F3905L probably benign Het
Tubgcp5 T A 7: 55,454,363 (GRCm39) H219Q possibly damaging Het
Usp16 C T 16: 87,271,536 (GRCm39) T364M possibly damaging Het
Vmn1r59 C T 7: 5,457,750 (GRCm39) M3I probably benign Het
Vmn2r61 T A 7: 41,949,700 (GRCm39) C707S probably damaging Het
Vps13b T C 15: 35,841,466 (GRCm39) S2499P probably damaging Het
Ythdf3 A G 3: 16,259,179 (GRCm39) E442G possibly damaging Het
Zfp1001 T C 2: 150,204,907 (GRCm39) S74P probably benign Het
Other mutations in Sh3glb2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01638:Sh3glb2 APN 2 30,235,862 (GRCm39) missense possibly damaging 0.73
IGL02189:Sh3glb2 APN 2 30,235,351 (GRCm39) splice site probably null
IGL02724:Sh3glb2 APN 2 30,236,368 (GRCm39) missense probably benign 0.02
IGL03352:Sh3glb2 APN 2 30,235,363 (GRCm39) missense probably damaging 1.00
R1162:Sh3glb2 UTSW 2 30,240,600 (GRCm39) missense probably damaging 1.00
R1517:Sh3glb2 UTSW 2 30,244,987 (GRCm39) missense probably damaging 1.00
R1725:Sh3glb2 UTSW 2 30,240,679 (GRCm39) nonsense probably null
R3894:Sh3glb2 UTSW 2 30,245,300 (GRCm39) missense probably damaging 0.97
R4523:Sh3glb2 UTSW 2 30,240,711 (GRCm39) missense probably damaging 0.98
R5587:Sh3glb2 UTSW 2 30,244,863 (GRCm39) critical splice donor site probably null
R5933:Sh3glb2 UTSW 2 30,240,401 (GRCm39) splice site probably null
R6215:Sh3glb2 UTSW 2 30,235,805 (GRCm39) missense possibly damaging 0.88
R6679:Sh3glb2 UTSW 2 30,240,631 (GRCm39) missense probably damaging 1.00
R6998:Sh3glb2 UTSW 2 30,245,333 (GRCm39) missense probably damaging 1.00
R8500:Sh3glb2 UTSW 2 30,249,216 (GRCm39) start codon destroyed probably null 1.00
R9380:Sh3glb2 UTSW 2 30,238,625 (GRCm39) missense probably damaging 0.96
R9594:Sh3glb2 UTSW 2 30,236,672 (GRCm39) missense probably damaging 1.00
R9595:Sh3glb2 UTSW 2 30,236,672 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GTGGGCAAACTTGTCAGTGTAAAC -3'
(R):5'- CGGTTTAGTAAAACGTTGATTAGAGCG -3'

Sequencing Primer
(F):5'- CTTGTCAGTGTAAACGGGCAC -3'
(R):5'- TAAAACGTTGATTAGAGCGAACAG -3'
Posted On 2021-01-18