Incidental Mutation 'IGL01638:Sh3glb2'
ID93149
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sh3glb2
Ensembl Gene ENSMUSG00000026860
Gene NameSH3-domain GRB2-like endophilin B2
SynonymsSPAS-1; mKIAA1848
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.193) question?
Stock #IGL01638
Quality Score
Status
Chromosome2
Chromosomal Location30344809-30359337 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 30345850 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 310 (V310A)
Ref Sequence ENSEMBL: ENSMUSP00000028214 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028214] [ENSMUST00000064447] [ENSMUST00000100215] [ENSMUST00000113620] [ENSMUST00000113621] [ENSMUST00000163668]
Predicted Effect possibly damaging
Transcript: ENSMUST00000028214
AA Change: V310A

PolyPhen 2 Score 0.725 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000028214
Gene: ENSMUSG00000026860
AA Change: V310A

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 benign
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 benign
Transcript: ENSMUST00000100215
AA Change: V315A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000097788
Gene: ENSMUSG00000026860
AA Change: V315A

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 benign
Transcript: ENSMUST00000113620
AA Change: V289A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000109250
Gene: ENSMUSG00000026860
AA Change: V289A

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 benign
Transcript: ENSMUST00000113621
AA Change: V319A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000109251
Gene: ENSMUSG00000026860
AA Change: V319A

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 noncoding transcript
Transcript: ENSMUST00000151145
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151354
Predicted Effect probably benign
Transcript: ENSMUST00000163668
AA Change: V294A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000131545
Gene: ENSMUSG00000026860
AA Change: V294A

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
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik A G 3: 36,974,311 N2377D probably damaging Het
Adamts9 T C 6: 92,872,428 T436A probably benign Het
Adgrb3 T A 1: 25,559,751 probably benign Het
Ajap1 A G 4: 153,432,236 V216A possibly damaging Het
Akap7 T A 10: 25,267,425 I124F probably damaging Het
Arfgef2 G A 2: 166,873,945 V1385M probably damaging Het
Arhgap30 A G 1: 171,397,570 K65E probably damaging Het
Cacna1a T C 8: 84,571,827 F1260S probably damaging Het
Cad T A 5: 31,067,614 C954S probably damaging Het
Fcmr A T 1: 130,875,122 E157D probably benign Het
Gm4204 A T 1: 135,233,135 noncoding transcript Het
Gzmn A T 14: 56,169,019 D16E probably benign Het
Krt86 A C 15: 101,475,472 probably benign Het
Macc1 T C 12: 119,446,511 L338P probably benign Het
Ms4a6d A T 19: 11,587,168 L113Q probably damaging Het
Myh15 T C 16: 49,069,480 S145P probably damaging Het
Nav3 T C 10: 109,852,863 K518E probably damaging Het
Olfr974 T C 9: 39,942,520 S87P probably benign Het
Parp11 T A 6: 127,491,529 F181I probably benign Het
Ppil1 C A 17: 29,261,792 K52N probably benign Het
Prl5a1 T A 13: 28,145,439 C34S possibly damaging Het
Prss55 A G 14: 64,077,187 V178A probably benign Het
S100a7a A G 3: 90,655,530 D8G probably benign Het
Slc22a7 T C 17: 46,437,994 probably null Het
Slc27a6 A G 18: 58,607,813 D482G probably damaging Het
Smarcc2 T A 10: 128,488,074 probably benign Het
Specc1l T A 10: 75,246,205 Y478* probably null Het
Spryd3 A G 15: 102,130,276 probably null Het
Tcerg1l G A 7: 138,280,076 R295C probably damaging Het
Trpv1 T C 11: 73,253,329 I637T probably damaging Het
Ttc7 A C 17: 87,359,112 probably null Het
Vmn1r6 C T 6: 57,003,192 Q280* probably null Het
Other mutations in Sh3glb2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02189:Sh3glb2 APN 2 30345339 unclassified probably null
IGL02724:Sh3glb2 APN 2 30346356 missense probably benign 0.02
IGL03352:Sh3glb2 APN 2 30345351 missense probably damaging 1.00
little UTSW 2 30354975 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
Posted On2013-12-09