Incidental Mutation 'IGL01080:Tyrobp'
ID 51466
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tyrobp
Ensembl Gene ENSMUSG00000030579
Gene Name TYRO protein tyrosine kinase binding protein
Synonyms killer cell activating receptor associated protein, DAP12, KARAP
Accession Numbers
Essential gene? Not available question?
Stock # IGL01080
Quality Score
Status
Chromosome 7
Chromosomal Location 30113207-30117007 bp(+) (GRCm39)
Type of Mutation splice site (296 bp from exon)
DNA Base Change (assembly) T to C at 30116841 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000146793 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032800] [ENSMUST00000075062] [ENSMUST00000108175] [ENSMUST00000108176] [ENSMUST00000208740]
AlphaFold O54885
Predicted Effect probably benign
Transcript: ENSMUST00000032800
SMART Domains Protein: ENSMUSP00000032800
Gene: ENSMUSG00000030579

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
PDB:2L35|A 37 78 3e-12 PDB
Predicted Effect probably null
Transcript: ENSMUST00000075062
SMART Domains Protein: ENSMUSP00000074573
Gene: ENSMUSG00000064109

DomainStartEndE-ValueType
Pfam:DAP10 1 79 4.7e-51 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108175
SMART Domains Protein: ENSMUSP00000103810
Gene: ENSMUSG00000036931

DomainStartEndE-ValueType
low complexity region 24 41 N/A INTRINSIC
low complexity region 71 83 N/A INTRINSIC
ANK 98 127 2.07e-2 SMART
ANK 131 160 1.5e1 SMART
ANK 166 215 5.58e1 SMART
ANK 220 250 4.93e0 SMART
ANK 257 290 8.39e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000108176
SMART Domains Protein: ENSMUSP00000103811
Gene: ENSMUSG00000036931

DomainStartEndE-ValueType
low complexity region 24 41 N/A INTRINSIC
low complexity region 71 83 N/A INTRINSIC
ANK 98 127 2.07e-2 SMART
ANK 131 160 1.5e1 SMART
ANK 166 215 5.58e1 SMART
ANK 220 250 4.93e0 SMART
ANK 257 290 8.39e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207504
Predicted Effect probably benign
Transcript: ENSMUST00000207982
Predicted Effect probably benign
Transcript: ENSMUST00000208125
Predicted Effect probably null
Transcript: ENSMUST00000208740
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transmembrane signaling polypeptide which contains an immunoreceptor tyrosine-based activation motif (ITAM) in its cytoplasmic domain. The encoded protein may associate with the killer-cell inhibitory receptor (KIR) family of membrane glycoproteins and may act as an activating signal transduction element. This protein may bind zeta-chain (TCR) associated protein kinase 70kDa (ZAP-70) and spleen tyrosine kinase (SYK) and play a role in signal transduction, bone modeling, brain myelination, and inflammation. Mutations within this gene have been associated with polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), also known as Nasu-Hakola disease. Its putative receptor, triggering receptor expressed on myeloid cells 2 (TREM2), also causes PLOSL. Multiple alternative transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Mar 2010]
PHENOTYPE: Homozygotes for targeted null mutations exhibit osteopetrosis, hypomyelination (especially of the thalamus), synaptic degeneration, and impaired oligodendrocyte, NK, and dendritic cell function. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb4 A T 5: 8,984,258 (GRCm39) R663W probably damaging Het
Cacng5 A T 11: 107,768,754 (GRCm39) F179L probably damaging Het
Cacng5 C T 11: 107,772,531 (GRCm39) V106I probably benign Het
Cd96 T C 16: 45,870,056 (GRCm39) E471G possibly damaging Het
Cpt1c T C 7: 44,610,333 (GRCm39) D621G probably damaging Het
Csmd3 T C 15: 47,744,799 (GRCm39) I1503V probably benign Het
Dmgdh T C 13: 93,840,286 (GRCm39) probably benign Het
Flg A T 3: 93,186,906 (GRCm39) K119N probably benign Het
Gale T C 4: 135,693,389 (GRCm39) Y104H probably damaging Het
Gm8005 T C 14: 42,258,971 (GRCm39) D119G unknown Het
Gstk1 A T 6: 42,223,560 (GRCm39) D50V possibly damaging Het
Kmt2a T C 9: 44,720,389 (GRCm39) D3866G unknown Het
Mastl A G 2: 23,036,160 (GRCm39) S119P probably damaging Het
Or2aj4 A T 16: 19,384,958 (GRCm39) V225E probably damaging Het
Phf11c G A 14: 59,630,648 (GRCm39) T19I probably benign Het
Ppp1r16b A G 2: 158,599,092 (GRCm39) T355A probably damaging Het
Prmt7 T G 8: 106,963,846 (GRCm39) probably benign Het
Rad50 T C 11: 53,596,895 (GRCm39) T44A probably damaging Het
Rangap1 C T 15: 81,589,953 (GRCm39) probably benign Het
Slc27a3 A T 3: 90,292,767 (GRCm39) V634E probably benign Het
Tbxas1 T A 6: 38,998,115 (GRCm39) L228I probably damaging Het
Tnfaip3 T C 10: 18,887,403 (GRCm39) K41E probably benign Het
Tti1 C T 2: 157,824,379 (GRCm39) V1025I probably damaging Het
Wfdc16 A T 2: 164,480,406 (GRCm39) W30R probably damaging Het
Zyg11b A T 4: 108,094,613 (GRCm39) L657Q probably damaging Het
Other mutations in Tyrobp
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0383:Tyrobp UTSW 7 30,114,042 (GRCm39) missense probably damaging 1.00
R1082:Tyrobp UTSW 7 30,114,033 (GRCm39) missense probably damaging 0.99
R7972:Tyrobp UTSW 7 30,114,063 (GRCm39) missense
Posted On 2013-06-21