Incidental Mutation 'IGL02283:Sh2b3'
ID 289923
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sh2b3
Ensembl Gene ENSMUSG00000042594
Gene Name SH2B adaptor protein 3
Synonyms Lnk
Accession Numbers
Essential gene? Possibly essential (E-score: 0.532) question?
Stock # IGL02283
Quality Score
Status
Chromosome 5
Chromosomal Location 121953551-121975709 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 121956718 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 321 (D321G)
Ref Sequence ENSEMBL: ENSMUSP00000113926 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040308] [ENSMUST00000051950] [ENSMUST00000086310] [ENSMUST00000118580] [ENSMUST00000122426] [ENSMUST00000136960] [ENSMUST00000197892] [ENSMUST00000161159] [ENSMUST00000161064] [ENSMUST00000160220] [ENSMUST00000162327]
AlphaFold O09039
Predicted Effect probably benign
Transcript: ENSMUST00000040308
AA Change: D321G

PolyPhen 2 Score 0.089 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000041611
Gene: ENSMUSG00000042594
AA Change: D321G

DomainStartEndE-ValueType
low complexity region 12 21 N/A INTRINSIC
Pfam:Phe_ZIP 23 76 1.1e-20 PFAM
low complexity region 114 128 N/A INTRINSIC
PH 168 281 1.2e-2 SMART
SH2 334 419 3.53e-19 SMART
low complexity region 512 525 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000051950
SMART Domains Protein: ENSMUSP00000056715
Gene: ENSMUSG00000042605

DomainStartEndE-ValueType
low complexity region 32 42 N/A INTRINSIC
low complexity region 46 69 N/A INTRINSIC
low complexity region 93 116 N/A INTRINSIC
low complexity region 128 144 N/A INTRINSIC
low complexity region 168 219 N/A INTRINSIC
Pfam:SM-ATX 236 307 6.4e-23 PFAM
LsmAD 378 446 8.57e-25 SMART
low complexity region 520 540 N/A INTRINSIC
low complexity region 544 576 N/A INTRINSIC
low complexity region 685 705 N/A INTRINSIC
low complexity region 807 838 N/A INTRINSIC
low complexity region 864 879 N/A INTRINSIC
Pfam:PAM2 880 897 5.7e-9 PFAM
low complexity region 1128 1165 N/A INTRINSIC
low complexity region 1185 1196 N/A INTRINSIC
low complexity region 1245 1261 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000086310
AA Change: D321G

PolyPhen 2 Score 0.089 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000083490
Gene: ENSMUSG00000042594
AA Change: D321G

DomainStartEndE-ValueType
low complexity region 12 21 N/A INTRINSIC
Pfam:Phe_ZIP 22 77 2e-22 PFAM
low complexity region 114 128 N/A INTRINSIC
PH 168 281 1.2e-2 SMART
SH2 334 419 3.53e-19 SMART
low complexity region 512 525 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000118580
SMART Domains Protein: ENSMUSP00000113808
Gene: ENSMUSG00000042594

DomainStartEndE-ValueType
low complexity region 12 21 N/A INTRINSIC
Pfam:Phe_ZIP 22 77 4.1e-23 PFAM
low complexity region 114 128 N/A INTRINSIC
PH 168 281 1.2e-2 SMART
SH2 324 409 3.53e-19 SMART
low complexity region 502 515 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000122426
AA Change: D321G

PolyPhen 2 Score 0.089 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000113926
Gene: ENSMUSG00000042594
AA Change: D321G

DomainStartEndE-ValueType
low complexity region 12 21 N/A INTRINSIC
Pfam:Phe_ZIP 22 77 2e-22 PFAM
low complexity region 114 128 N/A INTRINSIC
PH 168 281 1.2e-2 SMART
SH2 334 419 3.53e-19 SMART
low complexity region 512 525 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000136960
AA Change: T348A
SMART Domains Protein: ENSMUSP00000119086
Gene: ENSMUSG00000042594
AA Change: T348A

DomainStartEndE-ValueType
low complexity region 12 21 N/A INTRINSIC
Pfam:Phe_ZIP 22 77 2.4e-23 PFAM
low complexity region 114 128 N/A INTRINSIC
PH 168 281 1.2e-2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183860
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159928
Predicted Effect probably benign
Transcript: ENSMUST00000197892
SMART Domains Protein: ENSMUSP00000142666
Gene: ENSMUSG00000042594

DomainStartEndE-ValueType
low complexity region 12 21 N/A INTRINSIC
Pfam:Phe_ZIP 22 77 6.3e-20 PFAM
low complexity region 114 128 N/A INTRINSIC
Blast:PH 168 250 3e-53 BLAST
PDB:1V5M|A 171 250 1e-12 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000161159
SMART Domains Protein: ENSMUSP00000123833
Gene: ENSMUSG00000042605

DomainStartEndE-ValueType
low complexity region 74 111 N/A INTRINSIC
low complexity region 131 142 N/A INTRINSIC
low complexity region 188 196 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000161064
SMART Domains Protein: ENSMUSP00000124070
Gene: ENSMUSG00000042605

DomainStartEndE-ValueType
LsmAD 69 137 8.57e-25 SMART
low complexity region 211 231 N/A INTRINSIC
low complexity region 235 267 N/A INTRINSIC
low complexity region 376 396 N/A INTRINSIC
low complexity region 498 529 N/A INTRINSIC
low complexity region 555 570 N/A INTRINSIC
Pfam:PAM2 571 588 3.5e-9 PFAM
low complexity region 801 838 N/A INTRINSIC
low complexity region 858 869 N/A INTRINSIC
low complexity region 915 923 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000160220
SMART Domains Protein: ENSMUSP00000124059
Gene: ENSMUSG00000042605

DomainStartEndE-ValueType
low complexity region 15 26 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000199864
Predicted Effect probably benign
Transcript: ENSMUST00000162327
SMART Domains Protein: ENSMUSP00000123784
Gene: ENSMUSG00000042605

DomainStartEndE-ValueType
low complexity region 1 32 N/A INTRINSIC
low complexity region 58 73 N/A INTRINSIC
Pfam:PAM2 74 91 1.3e-9 PFAM
low complexity region 302 339 N/A INTRINSIC
low complexity region 359 370 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000198161
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the SH2B family of adapter proteins that play an important role in T cell receptor signaling. This gene is preferentially expressed in hematopoietic stem cells, hematopoietic progenitors, pre and immature B cells, as well as megakaryocytes and mastocytes. In hematopoietic stem cells, the encoded protein is a key regulator of self-renewal, proliferation and apoptosis. Mice lacking the encoded protein exhibit pre and immature B cell expansion in spleen and the bone marrow. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit severe perturbations in hematopoiesis, splenomegaly, and abnormal lymphoid and myeloid homeostasis. Mice homozygous for a different knock-out allele display altered mobility of hematopoietic stem/progenitor cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh1l2 T C 10: 83,331,759 (GRCm39) Y682C probably benign Het
Ank1 G A 8: 23,609,450 (GRCm39) probably null Het
Arhgap1 A G 2: 91,501,121 (GRCm39) N399S probably damaging Het
Atp8a2 A T 14: 60,254,248 (GRCm39) I511N possibly damaging Het
Birc6 T A 17: 74,906,935 (GRCm39) C1428S probably benign Het
Col18a1 T C 10: 76,948,943 (GRCm39) T190A possibly damaging Het
Cpd A T 11: 76,731,251 (GRCm39) D318E probably benign Het
Dync2h1 A T 9: 7,125,912 (GRCm39) V1898E probably damaging Het
Gon4l T C 3: 88,802,671 (GRCm39) M1095T probably damaging Het
Gypa G A 8: 81,220,721 (GRCm39) probably benign Het
Irf9 G A 14: 55,845,196 (GRCm39) R352H probably damaging Het
Macf1 T C 4: 123,365,168 (GRCm39) T1633A probably benign Het
Mars2 T C 1: 55,277,933 (GRCm39) V512A probably damaging Het
Myo9a A G 9: 59,778,956 (GRCm39) N1571D probably benign Het
Myrfl T C 10: 116,613,265 (GRCm39) D846G probably benign Het
Or2ak6 A T 11: 58,593,102 (GRCm39) T192S probably damaging Het
Or2y1b A G 11: 49,209,162 (GRCm39) D263G probably benign Het
Or4d11 A G 19: 12,013,219 (GRCm39) S296P possibly damaging Het
Or7a41 T C 10: 78,871,379 (GRCm39) S250P probably damaging Het
Rprd2 A T 3: 95,672,815 (GRCm39) S863T probably damaging Het
Sdf4 T A 4: 156,093,293 (GRCm39) N208K probably benign Het
Sftpd A T 14: 40,894,423 (GRCm39) V332D probably benign Het
Slc45a2 T A 15: 11,001,268 (GRCm39) N122K probably damaging Het
Slk T A 19: 47,630,432 (GRCm39) F1170Y probably damaging Het
Spata7 A C 12: 98,624,517 (GRCm39) T140P probably damaging Het
Vmn2r117 A G 17: 23,694,356 (GRCm39) L497S probably damaging Het
Other mutations in Sh2b3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02328:Sh2b3 APN 5 121,955,922 (GRCm39) missense probably benign 0.00
PIT4449001:Sh2b3 UTSW 5 121,966,742 (GRCm39) missense possibly damaging 0.95
R0164:Sh2b3 UTSW 5 121,967,100 (GRCm39) missense probably damaging 0.97
R0164:Sh2b3 UTSW 5 121,967,100 (GRCm39) missense probably damaging 0.97
R2898:Sh2b3 UTSW 5 121,967,111 (GRCm39) start codon destroyed probably null 0.93
R4374:Sh2b3 UTSW 5 121,966,549 (GRCm39) unclassified probably benign
R4688:Sh2b3 UTSW 5 121,956,697 (GRCm39) missense probably benign 0.23
R4822:Sh2b3 UTSW 5 121,966,618 (GRCm39) unclassified probably benign
R5743:Sh2b3 UTSW 5 121,966,520 (GRCm39) missense probably damaging 1.00
R5888:Sh2b3 UTSW 5 121,967,084 (GRCm39) missense possibly damaging 0.73
R6130:Sh2b3 UTSW 5 121,953,626 (GRCm39) splice site probably null
R6167:Sh2b3 UTSW 5 121,966,418 (GRCm39) splice site probably null
R6413:Sh2b3 UTSW 5 121,966,986 (GRCm39) missense probably damaging 1.00
R7499:Sh2b3 UTSW 5 121,956,536 (GRCm39) missense probably damaging 0.97
R7615:Sh2b3 UTSW 5 121,956,763 (GRCm39) missense probably benign 0.00
R7672:Sh2b3 UTSW 5 121,956,822 (GRCm39) critical splice donor site probably null
R9748:Sh2b3 UTSW 5 121,955,874 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16