Incidental Mutation 'IGL02025:Sirpb1b'
ID 184112
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sirpb1b
Ensembl Gene ENSMUSG00000095028
Gene Name signal-regulatory protein beta 1B
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.061) question?
Stock # IGL02025
Quality Score
Status
Chromosome 3
Chromosomal Location 15560814-15640127 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 15613863 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 73 (R73Q)
Ref Sequence ENSEMBL: ENSMUSP00000142068 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091319] [ENSMUST00000192382] [ENSMUST00000195778]
AlphaFold A0A0A6YXN8
Predicted Effect possibly damaging
Transcript: ENSMUST00000091319
AA Change: R73Q

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000088869
Gene: ENSMUSG00000095028
AA Change: R73Q

DomainStartEndE-ValueType
low complexity region 15 23 N/A INTRINSIC
IG 37 143 8.19e-9 SMART
IGc1 163 236 1.22e-4 SMART
IGc1 266 339 2.21e-5 SMART
transmembrane domain 364 386 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000192382
AA Change: R73Q

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000142068
Gene: ENSMUSG00000095028
AA Change: R73Q

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
IG 37 143 3.3e-11 SMART
IGc1 163 236 5.1e-7 SMART
Pfam:C2-set_2 251 340 1e-4 PFAM
Pfam:Ig_2 251 348 2.7e-1 PFAM
Pfam:C1-set 258 341 1.3e-13 PFAM
transmembrane domain 370 392 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193767
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194767
Predicted Effect probably benign
Transcript: ENSMUST00000195778
SMART Domains Protein: ENSMUSP00000141533
Gene: ENSMUSG00000095028

DomainStartEndE-ValueType
Pfam:Ig_2 14 66 5.6e-1 PFAM
Pfam:Ig_3 22 52 7.8e-3 PFAM
Pfam:V-set 24 75 1.9e-7 PFAM
IGc1 96 169 5.1e-7 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afap1l1 T C 18: 61,866,770 (GRCm39) probably benign Het
Akap6 A G 12: 53,187,118 (GRCm39) T1511A probably benign Het
Casp8 A C 1: 58,863,306 (GRCm39) I69L possibly damaging Het
Cdh23 T C 10: 60,220,922 (GRCm39) E1274G probably damaging Het
Cfap47 A T X: 78,554,036 (GRCm39) S230R probably benign Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Depdc5 A G 5: 33,103,976 (GRCm39) probably null Het
Dock5 A G 14: 68,000,736 (GRCm39) S1656P probably damaging Het
Dock6 A G 9: 21,720,885 (GRCm39) S1707P probably damaging Het
Eddm3b T A 14: 51,354,228 (GRCm39) V72D probably damaging Het
Etl4 A G 2: 20,811,337 (GRCm39) D1508G probably damaging Het
Gm20489 A C X: 100,307,290 (GRCm39) V21G probably damaging Het
Il16 T C 7: 83,302,056 (GRCm39) N22S probably damaging Het
Ksr1 T C 11: 78,912,276 (GRCm39) probably null Het
Lrrc32 C T 7: 98,148,767 (GRCm39) R516C probably benign Het
Naa25 T C 5: 121,577,928 (GRCm39) V945A probably damaging Het
Neb T C 2: 52,197,751 (GRCm39) T501A probably benign Het
Npnt A C 3: 132,596,523 (GRCm39) probably null Het
Nr1h5 G A 3: 102,856,942 (GRCm39) probably benign Het
Opalin T C 19: 41,060,674 (GRCm39) probably benign Het
Or10ak9 G A 4: 118,726,362 (GRCm39) C127Y probably damaging Het
Or2w6 A G 13: 21,843,433 (GRCm39) V20A possibly damaging Het
Or9s13 A G 1: 92,548,269 (GRCm39) I214V probably benign Het
Pls3 A T X: 74,840,101 (GRCm39) L341H probably damaging Het
Pnp2 T A 14: 51,197,010 (GRCm39) L32H probably damaging Het
Prpf40b T C 15: 99,212,469 (GRCm39) F571S probably damaging Het
Prss16 A G 13: 22,187,191 (GRCm39) S460P probably damaging Het
Sh3bp4 T C 1: 89,073,008 (GRCm39) S619P probably benign Het
Slc22a8 G A 19: 8,571,539 (GRCm39) G90E possibly damaging Het
Tbc1d2 G A 4: 46,620,713 (GRCm39) R366W probably damaging Het
Tns2 T A 15: 102,020,484 (GRCm39) Y783* probably null Het
Zfp318 C T 17: 46,707,736 (GRCm39) R265* probably null Het
Zfp7 C T 15: 76,772,464 (GRCm39) S55F probably damaging Het
Other mutations in Sirpb1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01384:Sirpb1b APN 3 15,613,789 (GRCm39) missense probably damaging 0.99
IGL01662:Sirpb1b APN 3 15,608,244 (GRCm39) missense probably damaging 1.00
F5770:Sirpb1b UTSW 3 15,568,243 (GRCm39) missense probably benign 0.25
R0419:Sirpb1b UTSW 3 15,613,656 (GRCm39) missense probably damaging 1.00
R1538:Sirpb1b UTSW 3 15,613,819 (GRCm39) missense possibly damaging 0.81
R3935:Sirpb1b UTSW 3 15,613,843 (GRCm39) missense probably benign 0.05
R4300:Sirpb1b UTSW 3 15,613,821 (GRCm39) missense probably damaging 1.00
R4373:Sirpb1b UTSW 3 15,613,821 (GRCm39) missense probably damaging 1.00
R4953:Sirpb1b UTSW 3 15,613,887 (GRCm39) missense probably damaging 1.00
R5425:Sirpb1b UTSW 3 15,613,729 (GRCm39) missense probably damaging 1.00
R6340:Sirpb1b UTSW 3 15,613,725 (GRCm39) missense probably damaging 1.00
R6357:Sirpb1b UTSW 3 15,568,243 (GRCm39) missense possibly damaging 0.79
R6723:Sirpb1b UTSW 3 15,613,858 (GRCm39) missense possibly damaging 0.78
R7152:Sirpb1b UTSW 3 15,607,230 (GRCm39) missense probably benign 0.25
R7390:Sirpb1b UTSW 3 15,608,100 (GRCm39) nonsense probably null
R7411:Sirpb1b UTSW 3 15,608,057 (GRCm39) missense probably benign 0.22
R7513:Sirpb1b UTSW 3 15,607,200 (GRCm39) nonsense probably null
R7526:Sirpb1b UTSW 3 15,613,932 (GRCm39) missense probably damaging 1.00
R8352:Sirpb1b UTSW 3 15,607,410 (GRCm39) missense probably benign 0.03
R8452:Sirpb1b UTSW 3 15,607,410 (GRCm39) missense probably benign 0.03
R8794:Sirpb1b UTSW 3 15,613,843 (GRCm39) missense probably benign 0.05
R9165:Sirpb1b UTSW 3 15,639,964 (GRCm39) missense probably damaging 1.00
R9793:Sirpb1b UTSW 3 15,640,074 (GRCm39) unclassified probably benign
V7583:Sirpb1b UTSW 3 15,568,243 (GRCm39) missense probably benign 0.25
Z1177:Sirpb1b UTSW 3 15,640,001 (GRCm39) missense probably damaging 0.98
Posted On 2014-05-07