Incidental Mutation 'IGL02657:Sirpb1a'
ID 302360
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sirpb1a
Ensembl Gene ENSMUSG00000095788
Gene Name signal-regulatory protein beta 1A
Synonyms 9930027N05Rik, Sirpb1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # IGL02657
Quality Score
Status
Chromosome 3
Chromosomal Location 15371653-15426520 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to C at 15417051 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 72 (S72R)
Ref Sequence ENSEMBL: ENSMUSP00000096807 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099201] [ENSMUST00000192700] [ENSMUST00000194144]
AlphaFold A0A0A6YYP6
Predicted Effect possibly damaging
Transcript: ENSMUST00000099201
AA Change: S72R

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000096807
Gene: ENSMUSG00000095788
AA Change: S72R

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 benign
Transcript: ENSMUST00000192700
AA Change: S72R

PolyPhen 2 Score 0.444 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000141504
Gene: ENSMUSG00000095788
AA Change: S72R

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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afmid G A 11: 117,834,822 V120M possibly damaging Het
Aldh1l1 T C 6: 90,590,794 L680P probably damaging Het
Alox12 A T 11: 70,247,278 D410E probably benign Het
Amt T A 9: 108,301,380 V365E probably damaging Het
Ano9 A G 7: 141,107,440 S321P probably damaging Het
Atp2c2 A T 8: 119,753,032 I767F probably damaging Het
Bag1 A T 4: 40,936,643 Y338N probably benign Het
Bcr T A 10: 75,154,964 D767E probably benign Het
Chfr A T 5: 110,154,839 Q350L probably damaging Het
Cops3 A T 11: 59,830,217 L124H probably damaging Het
Ddx60 T C 8: 61,984,115 Y988H probably benign Het
Dnajc2 A T 5: 21,770,481 probably benign Het
Dym C T 18: 75,082,456 Q238* probably null Het
Fam126b A T 1: 58,535,402 W327R probably damaging Het
Fbn1 A T 2: 125,352,025 C1341S possibly damaging Het
Fryl G T 5: 73,054,860 N2308K probably benign Het
Gbp2b G T 3: 142,604,112 R221L probably damaging Het
Gm4070 T C 7: 105,896,765 K2360R probably damaging Het
Gpat2 A G 2: 127,427,331 N8S probably benign Het
Ift52 A G 2: 163,045,215 D379G probably damaging Het
Inhbe C A 10: 127,350,776 L178F probably damaging Het
Ipo5 T C 14: 120,943,800 Y913H possibly damaging Het
Kif21b T A 1: 136,172,230 D1507E possibly damaging Het
Lnx2 A G 5: 147,028,174 V413A probably damaging Het
Lrrc40 C A 3: 158,036,773 F16L probably damaging Het
Magi2 A G 5: 19,227,583 K99E probably damaging Het
Me3 A G 7: 89,846,253 I357M probably benign Het
Med30 A G 15: 52,719,365 Y66C probably benign Het
Mief2 A T 11: 60,730,957 S118C probably damaging Het
Mylip A G 13: 45,391,246 S49G probably benign Het
Ncoa7 T A 10: 30,652,976 D107V probably damaging Het
Nvl C A 1: 181,106,976 V655F probably damaging Het
Olfml2b C T 1: 170,681,076 T501I probably benign Het
Ormdl2 T C 10: 128,820,317 I40V probably benign Het
Pde6b G T 5: 108,420,276 probably benign Het
Ralgapa1 A C 12: 55,673,507 L1785W probably damaging Het
Rnf112 A T 11: 61,450,252 probably null Het
Sema3c A T 5: 17,576,868 M1L possibly damaging Het
Sema3c T A 5: 17,662,974 Y128N probably damaging Het
Sema4b G A 7: 80,217,041 G255D probably damaging Het
Setd1a C T 7: 127,795,825 probably benign Het
Slu7 T A 11: 43,442,022 probably null Het
Spata19 T C 9: 27,397,980 V59A probably benign Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Suclg1 T A 6: 73,260,521 V83E probably damaging Het
Syncrip G T 9: 88,456,404 R536S probably benign Het
Tap2 T C 17: 34,205,458 V55A probably damaging Het
Tekt4 T C 17: 25,473,758 I186T possibly damaging Het
Trpc6 C A 9: 8,643,601 D462E possibly damaging Het
Ubqln3 T G 7: 104,141,963 T307P probably damaging Het
Vmn1r64 A T 7: 5,883,728 I272K probably benign Het
Xpr1 T C 1: 155,290,280 T574A probably benign Het
Zfc3h1 A G 10: 115,411,954 T1021A possibly damaging Het
Zfp512 A T 5: 31,471,157 H159L probably damaging 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
IGL02275:Sirpb1a APN 3 15410409 critical splice donor site probably null
IGL02419:Sirpb1a APN 3 15426338 missense probably benign
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
R8700:Sirpb1a UTSW 3 15411359 missense probably damaging 0.97
R9263:Sirpb1a UTSW 3 15416932 missense probably damaging 1.00
R9553:Sirpb1a UTSW 3 15411260 missense probably damaging 0.99
Posted On 2015-04-16