Incidental Mutation 'IGL01678:Sirpb1a'
ID 103696
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: 0.061) question?
Stock # IGL01678
Quality Score
Status
Chromosome 3
Chromosomal Location 15436887-15491487 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 15476370 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 142 (S142R)
Ref Sequence ENSEMBL: ENSMUSP00000141659 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099201] [ENSMUST00000192700] [ENSMUST00000194144]
AlphaFold A0A0A6YYP6
Predicted Effect probably damaging
Transcript: ENSMUST00000099201
AA Change: S209R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000096807
Gene: ENSMUSG00000095788
AA Change: S209R

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 damaging
Transcript: ENSMUST00000192700
AA Change: S209R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000141504
Gene: ENSMUSG00000095788
AA Change: S209R

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 damaging
Transcript: ENSMUST00000194144
AA Change: S142R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000141659
Gene: ENSMUSG00000095788
AA Change: S142R

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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm5 A T 4: 144,504,443 (GRCm39) M236K probably benign Het
Abcc1 T A 16: 14,222,883 (GRCm39) M186K probably null Het
Adamts3 T C 5: 89,855,715 (GRCm39) N385S probably damaging Het
Adamts6 T C 13: 104,450,196 (GRCm39) V299A probably damaging Het
Angel1 T C 12: 86,763,800 (GRCm39) E500G probably benign Het
Car9 T C 4: 43,512,941 (GRCm39) probably benign Het
Colec11 A G 12: 28,644,867 (GRCm39) F209S probably damaging Het
Dnaaf10 T C 11: 17,182,790 (GRCm39) V317A probably benign Het
Dock10 A G 1: 80,521,069 (GRCm39) Y1179H probably damaging Het
Ece1 T A 4: 137,690,044 (GRCm39) W697R probably damaging Het
Eml2 T A 7: 18,920,047 (GRCm39) M117K probably benign Het
Flii G T 11: 60,607,672 (GRCm39) probably benign Het
Frmpd1 T A 4: 45,243,717 (GRCm39) D63E probably damaging Het
Ftmt A T 18: 52,465,206 (GRCm39) H174L probably damaging Het
Gpr37l1 A G 1: 135,094,791 (GRCm39) V151A probably damaging Het
Inppl1 T C 7: 101,481,803 (GRCm39) T180A probably benign Het
Klhdc4 T C 8: 122,523,677 (GRCm39) D513G possibly damaging Het
Klrb1a A G 6: 128,595,411 (GRCm39) probably benign Het
Nit1 A G 1: 171,170,262 (GRCm39) V270A probably damaging Het
Or6c5 A C 10: 129,074,537 (GRCm39) D173A possibly damaging Het
Phox2b T A 5: 67,256,262 (GRCm39) Y8F probably damaging Het
Psg20 T A 7: 18,414,795 (GRCm39) S364C probably damaging Het
Rab38 T A 7: 88,079,740 (GRCm39) V44E probably damaging Het
Rapgef4 T C 2: 72,072,569 (GRCm39) probably benign Het
Ror1 C T 4: 100,283,165 (GRCm39) P410L possibly damaging Het
Rptn A G 3: 93,304,118 (GRCm39) N484D probably benign Het
Smox G A 2: 131,353,979 (GRCm39) R17H possibly damaging Het
Top6bl T A 19: 4,722,193 (GRCm39) I76L possibly damaging Het
Trpm7 A T 2: 126,658,719 (GRCm39) C1146S probably damaging Het
Upf3a C T 8: 13,841,930 (GRCm39) A155V probably benign Het
Vmn1r212 A T 13: 23,068,081 (GRCm39) V84D probably damaging Het
Vmn2r40 T C 7: 8,923,105 (GRCm39) N419D probably damaging Het
Zfp143 C A 7: 109,679,558 (GRCm39) probably benign Het
Zmat4 T A 8: 24,392,064 (GRCm39) C7S probably damaging Het
Other mutations in Sirpb1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00493:Sirpb1a APN 3 15,475,788 (GRCm39) unclassified probably benign
IGL00597:Sirpb1a APN 3 15,481,977 (GRCm39) missense probably damaging 1.00
IGL01521:Sirpb1a APN 3 15,475,561 (GRCm39) missense probably benign 0.00
IGL02154:Sirpb1a APN 3 15,475,504 (GRCm39) missense probably damaging 1.00
IGL02275:Sirpb1a APN 3 15,475,469 (GRCm39) critical splice donor site probably null
IGL02419:Sirpb1a APN 3 15,491,398 (GRCm39) missense probably benign
IGL02657:Sirpb1a APN 3 15,482,111 (GRCm39) missense possibly damaging 0.85
IGL03086:Sirpb1a APN 3 15,491,388 (GRCm39) splice site probably null
PIT4142001:Sirpb1a UTSW 3 15,476,258 (GRCm39) missense probably benign 0.00
R0270:Sirpb1a UTSW 3 15,475,587 (GRCm39) missense probably damaging 1.00
R1975:Sirpb1a UTSW 3 15,444,141 (GRCm39) missense probably benign 0.00
R3432:Sirpb1a UTSW 3 15,491,447 (GRCm39) missense probably damaging 0.98
R4613:Sirpb1a UTSW 3 15,482,097 (GRCm39) missense probably benign 0.09
R5325:Sirpb1a UTSW 3 15,476,503 (GRCm39) missense possibly damaging 0.90
R6223:Sirpb1a UTSW 3 15,444,086 (GRCm39) missense probably benign 0.02
R6526:Sirpb1a UTSW 3 15,444,080 (GRCm39) missense probably damaging 0.99
R6903:Sirpb1a UTSW 3 15,481,984 (GRCm39) missense probably damaging 0.99
R7349:Sirpb1a UTSW 3 15,475,664 (GRCm39) missense probably damaging 0.99
R7513:Sirpb1a UTSW 3 15,476,503 (GRCm39) missense possibly damaging 0.90
R8250:Sirpb1a UTSW 3 15,444,104 (GRCm39) missense possibly damaging 0.92
R8700:Sirpb1a UTSW 3 15,476,419 (GRCm39) missense probably damaging 0.97
R9263:Sirpb1a UTSW 3 15,481,992 (GRCm39) missense probably damaging 1.00
R9553:Sirpb1a UTSW 3 15,476,320 (GRCm39) missense probably damaging 0.99
Posted On 2014-01-21