Incidental Mutation 'IGL02189:Sh3glb2'
ID 283776
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sh3glb2
Ensembl Gene ENSMUSG00000026860
Gene Name SH3-domain GRB2-like endophilin B2
Synonyms SPAS-1; mKIAA1848
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.290) question?
Stock # IGL02189
Quality Score
Status
Chromosome 2
Chromosomal Location 30344809-30359337 bp(-) (GRCm38)
Type of Mutation splice site (1073 bp from exon)
DNA Base Change (assembly) T to C at 30345339 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000065836 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028214] [ENSMUST00000064447] [ENSMUST00000100215] [ENSMUST00000113620] [ENSMUST00000113621] [ENSMUST00000163668]
AlphaFold Q8R3V5
Predicted Effect probably damaging
Transcript: ENSMUST00000028214
AA Change: Y390C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000028214
Gene: ENSMUSG00000026860
AA Change: Y390C

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: ENSMUST00000064447
SMART Domains Protein: ENSMUSP00000065836
Gene: ENSMUSG00000052533

DomainStartEndE-ValueType
Pfam:Nup188 31 941 9.3e-213 PFAM
low complexity region 1020 1035 N/A INTRINSIC
low complexity region 1307 1320 N/A INTRINSIC
low complexity region 1330 1360 N/A INTRINSIC
low complexity region 1696 1709 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000100215
AA Change: Y395C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000097788
Gene: ENSMUSG00000026860
AA Change: Y395C

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 damaging
Transcript: ENSMUST00000113620
AA Change: Y369C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109250
Gene: ENSMUSG00000026860
AA Change: Y369C

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 damaging
Transcript: ENSMUST00000113621
AA Change: Y399C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109251
Gene: ENSMUSG00000026860
AA Change: Y399C

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 noncoding transcript
Transcript: ENSMUST00000128387
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133421
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139963
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140801
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140899
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142689
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142720
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146400
Predicted Effect probably damaging
Transcript: ENSMUST00000163668
AA Change: Y374C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000131545
Gene: ENSMUSG00000026860
AA Change: Y374C

DomainStartEndE-ValueType
BAR 7 259 2.06e-92 SMART
low complexity region 272 318 N/A INTRINSIC
SH3 322 379 2.16e-12 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151145
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151354
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700016K19Rik A G 11: 76,000,230 K57E probably damaging Het
9930111J21Rik1 A T 11: 48,947,421 Y780N probably benign Het
Aadacl2 T C 3: 60,025,188 S375P probably damaging Het
Abi1 A C 2: 23,040,064 M1R probably null Het
Acss1 T C 2: 150,629,868 D322G probably damaging Het
Adam22 G A 5: 8,330,029 R90W possibly damaging Het
Agtpbp1 T C 13: 59,500,461 H515R probably benign Het
BC003331 G T 1: 150,372,033 N356K possibly damaging Het
C3 T C 17: 57,220,113 K779E probably benign Het
Cfhr2 A G 1: 139,821,759 Y162H probably damaging Het
Chchd5 T C 2: 129,133,268 probably benign Het
Csmd1 T A 8: 16,271,606 I493F probably damaging Het
Daam1 A T 12: 71,946,285 R349S unknown Het
Dnah11 T C 12: 118,082,579 E1708G probably benign Het
Epg5 A G 18: 78,012,870 D1753G probably damaging Het
Flt4 T G 11: 49,626,003 C206G probably damaging Het
Fscn1 G T 5: 142,960,620 A58S possibly damaging Het
Gapvd1 A T 2: 34,728,544 N272K probably damaging Het
Gem T A 4: 11,706,121 S70T possibly damaging Het
H2-K1 A G 17: 33,999,492 L150P probably damaging Het
Hsd3b3 T A 3: 98,742,138 I290L probably benign Het
Iws1 A G 18: 32,093,125 R689G probably damaging Het
Klk1b22 A G 7: 44,116,206 probably null Het
Klra4 T A 6: 130,044,142 D230V possibly damaging Het
Krt26 C T 11: 99,333,645 R349Q probably benign Het
Lilra5 A T 7: 4,237,969 M21L probably benign Het
Lrrc20 T A 10: 61,527,108 V44D possibly damaging Het
Mtx1 T G 3: 89,209,317 M426L probably damaging Het
Mylk2 C T 2: 152,915,154 P283L probably damaging Het
Mynn T A 3: 30,613,544 probably benign Het
Olfr1231 A C 2: 89,303,297 C98W probably damaging Het
Parl T A 16: 20,297,703 I116F probably damaging Het
Pdlim3 T C 8: 45,885,593 V5A probably damaging Het
Pld1 G A 3: 28,120,783 V857I probably benign Het
Ptprf T A 4: 118,213,642 probably benign Het
Ptprn A G 1: 75,258,495 S170P possibly damaging Het
Ror2 C T 13: 53,110,728 S764N probably damaging Het
Rps27a C A 11: 29,546,772 Q40H probably damaging Het
Ryr3 A T 2: 112,754,838 probably benign Het
Scube3 G T 17: 28,162,996 C332F probably benign Het
Sh3tc2 A G 18: 61,990,622 E818G probably benign Het
Slc16a3 G A 11: 120,956,771 V262I probably benign Het
Sptbn1 T A 11: 30,117,871 D1781V probably damaging Het
Ssr1 C T 13: 37,987,516 probably null Het
Tep1 A G 14: 50,826,826 L2442S probably benign Het
Tonsl A T 15: 76,623,178 V94D possibly damaging Het
Ttc22 A T 4: 106,639,157 H468L probably benign Het
Ttc27 C T 17: 74,729,899 T189M probably damaging Het
Ttn T C 2: 76,890,156 probably benign Het
Ttn T G 2: 76,759,895 I21157L probably damaging Het
Vav3 T A 3: 109,525,960 probably benign Het
Zfp318 C T 17: 46,396,810 R265* probably null Het
Other mutations in Sh3glb2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01638:Sh3glb2 APN 2 30345850 missense possibly damaging 0.73
IGL02724:Sh3glb2 APN 2 30346356 missense probably benign 0.02
IGL03352:Sh3glb2 APN 2 30345351 missense probably damaging 1.00
R1162:Sh3glb2 UTSW 2 30350588 missense probably damaging 1.00
R1517:Sh3glb2 UTSW 2 30354975 missense probably damaging 1.00
R1725:Sh3glb2 UTSW 2 30350667 nonsense probably null
R3894:Sh3glb2 UTSW 2 30355288 missense probably damaging 0.97
R4523:Sh3glb2 UTSW 2 30350699 missense probably damaging 0.98
R5587:Sh3glb2 UTSW 2 30354851 critical splice donor site probably null
R5933:Sh3glb2 UTSW 2 30350389 splice site probably null
R6215:Sh3glb2 UTSW 2 30345793 missense possibly damaging 0.88
R6679:Sh3glb2 UTSW 2 30350619 missense probably damaging 1.00
R6998:Sh3glb2 UTSW 2 30355321 missense probably damaging 1.00
R8499:Sh3glb2 UTSW 2 30359204 start codon destroyed probably null 1.00
R8500:Sh3glb2 UTSW 2 30359204 start codon destroyed probably null 1.00
R9380:Sh3glb2 UTSW 2 30348613 missense probably damaging 0.96
R9594:Sh3glb2 UTSW 2 30346660 missense probably damaging 1.00
R9595:Sh3glb2 UTSW 2 30346660 missense probably damaging 1.00
Posted On 2015-04-16