Incidental Mutation 'IGL02275:Sirpb1a'
ID287322
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sirpb1a
Ensembl Gene ENSMUSG00000095788
Gene Namesignal-regulatory protein beta 1A
Synonyms9930027N05Rik, Sirpb1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.054) question?
Stock #IGL02275
Quality Score
Status
Chromosome3
Chromosomal Location15371653-15426520 bp(-) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 15410409 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000141504 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099201] [ENSMUST00000192700] [ENSMUST00000194144]
Predicted Effect silent
Transcript: ENSMUST00000099201
SMART Domains Protein: ENSMUSP00000096807
Gene: ENSMUSG00000095788

DomainStartEndE-ValueType
low complexity region 15 21 N/A INTRINSIC
IG 37 143 2.48e-8 SMART
IGc1 163 236 1.17e-4 SMART
IGc1 269 339 4.91e-4 SMART
transmembrane domain 364 386 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191958
Predicted Effect probably null
Transcript: ENSMUST00000192700
SMART Domains Protein: ENSMUSP00000141504
Gene: ENSMUSG00000095788

DomainStartEndE-ValueType
low complexity region 15 21 N/A INTRINSIC
IG 37 143 2.48e-8 SMART
IGc1 163 236 1.17e-4 SMART
IGc1 269 339 4.91e-4 SMART
transmembrane domain 364 386 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000194144
SMART Domains Protein: ENSMUSP00000141659
Gene: ENSMUSG00000095788

DomainStartEndE-ValueType
Pfam:Ig_2 15 66 6.6e-1 PFAM
Pfam:Ig_3 21 52 1.7e-2 PFAM
Pfam:V-set 23 75 1.2e-7 PFAM
IGc1 96 169 4.8e-7 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700037C18Rik T A 16: 3,906,282 D130V probably damaging Het
4930596D02Rik T C 14: 35,811,923 T9A probably benign Het
Anapc1 C A 2: 128,659,852 A757S probably benign Het
Bpifa6 A T 2: 153,992,272 D328V probably benign Het
Casc1 T C 6: 145,177,364 Y592C probably damaging Het
Cdh19 T A 1: 110,925,886 K275I probably benign Het
Col18a1 A G 10: 77,059,383 I1148T possibly damaging Het
Commd1 A T 11: 22,900,017 V222D probably damaging Het
Crim1 T A 17: 78,369,998 M876K possibly damaging Het
Dennd1b C A 1: 139,081,254 H232N probably damaging Het
Dhx57 T C 17: 80,274,839 T393A probably benign Het
Gabrb2 G T 11: 42,591,894 R193L probably benign Het
Gm5828 T A 1: 16,769,118 noncoding transcript Het
Gm6483 C T 8: 19,691,613 P55S probably damaging Het
Hsp90ab1 T C 17: 45,568,438 Y619C possibly damaging Het
Kctd19 A G 8: 105,396,374 I136T probably damaging Het
Olfr134 G T 17: 38,175,686 V201L probably benign Het
Olfr1361 A C 13: 21,659,000 F108V probably benign Het
Sel1l T C 12: 91,815,015 Y532C probably damaging Het
Ush2a C T 1: 188,263,269 T79M possibly damaging Het
Usp24 T C 4: 106,387,493 V1215A probably damaging Het
Vdac3-ps1 T C 13: 18,030,794 noncoding transcript Het
Vmn2r75 T C 7: 86,165,140 T382A probably benign Het
Vps53 T C 11: 76,047,123 Y728C probably benign Het
Other mutations in Sirpb1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00493:Sirpb1a APN 3 15410728 unclassified probably benign
IGL00597:Sirpb1a APN 3 15416917 missense probably damaging 1.00
IGL01521:Sirpb1a APN 3 15410501 missense probably benign 0.00
IGL01678:Sirpb1a APN 3 15411310 missense probably damaging 1.00
IGL02154:Sirpb1a APN 3 15410444 missense probably damaging 1.00
IGL02419:Sirpb1a APN 3 15426338 missense probably benign
IGL02657:Sirpb1a APN 3 15417051 missense possibly damaging 0.85
IGL03086:Sirpb1a APN 3 15426328 splice site probably null
PIT4142001:Sirpb1a UTSW 3 15411198 missense probably benign 0.00
R0270:Sirpb1a UTSW 3 15410527 missense probably damaging 1.00
R1975:Sirpb1a UTSW 3 15379081 missense probably benign 0.00
R3432:Sirpb1a UTSW 3 15426387 missense probably damaging 0.98
R4613:Sirpb1a UTSW 3 15417037 missense probably benign 0.09
R5325:Sirpb1a UTSW 3 15411443 missense possibly damaging 0.90
R6223:Sirpb1a UTSW 3 15379026 missense probably benign 0.02
R6526:Sirpb1a UTSW 3 15379020 missense probably damaging 0.99
R6903:Sirpb1a UTSW 3 15416924 missense probably damaging 0.99
R7349:Sirpb1a UTSW 3 15410604 missense probably damaging 0.99
R7513:Sirpb1a UTSW 3 15411443 missense possibly damaging 0.90
R8250:Sirpb1a UTSW 3 15379044 missense possibly damaging 0.92
Posted On2015-04-16