Incidental Mutation 'R4373:Sirpb1b'
ID 326049
Institutional Source Beutler Lab
Gene Symbol Sirpb1b
Ensembl Gene ENSMUSG00000095028
Gene Name signal-regulatory protein beta 1B
Synonyms
MMRRC Submission 041675-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.055) question?
Stock # R4373 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 15495751-15575065 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 15548761 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Lysine at position 87 (I87K)
Ref Sequence ENSEMBL: ENSMUSP00000142068 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091319] [ENSMUST00000192382] [ENSMUST00000195778]
AlphaFold A0A0A6YXN8
Predicted Effect probably damaging
Transcript: ENSMUST00000091319
AA Change: I87K

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000088869
Gene: ENSMUSG00000095028
AA Change: I87K

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: I87K

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000142068
Gene: ENSMUSG00000095028
AA Change: I87K

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
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency 98% (54/55)
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610010F05Rik A T 11: 23,615,265 (GRCm38) probably null Het
3632451O06Rik T A 14: 49,770,436 (GRCm38) T527S probably damaging Het
Adck5 A G 15: 76,594,335 (GRCm38) probably benign Het
Akr1b3 A C 6: 34,304,267 (GRCm38) probably benign Het
Asns A T 6: 7,677,978 (GRCm38) S367T probably damaging Het
BC034090 T C 1: 155,226,158 (GRCm38) N120S probably benign Het
Bub1 A T 2: 127,805,236 (GRCm38) probably benign Het
Csf1 T A 3: 107,756,739 (GRCm38) T38S probably damaging Het
Ctsz T C 2: 174,428,585 (GRCm38) E268G possibly damaging Het
Dach1 G A 14: 97,827,750 (GRCm38) T685I possibly damaging Het
Dclre1a A G 19: 56,545,442 (GRCm38) L240S probably benign Het
Ercc1 G A 7: 19,347,132 (GRCm38) probably benign Het
Esam C T 9: 37,534,196 (GRCm38) T71I probably benign Het
Espl1 A G 15: 102,312,989 (GRCm38) I944V probably damaging Het
Gde1 A G 7: 118,698,558 (GRCm38) L35P possibly damaging Het
Gm10382 A G 5: 125,389,583 (GRCm38) probably benign Het
H2-M10.6 T C 17: 36,813,066 (GRCm38) Y141H probably damaging Het
Hk1 C A 10: 62,315,540 (GRCm38) K10N probably damaging Het
Lamc3 A G 2: 31,898,232 (GRCm38) K135E probably damaging Het
Lrtm2 A G 6: 119,320,528 (GRCm38) F184S probably damaging Het
March11 A G 15: 26,309,446 (GRCm38) E62G probably damaging Het
Mtcl1 T A 17: 66,380,079 (GRCm38) T611S probably benign Het
Myc A T 15: 61,989,664 (GRCm38) H373L probably damaging Het
Myh6 T A 14: 54,962,108 (GRCm38) I249F probably damaging Het
Naaa T C 5: 92,278,143 (GRCm38) probably benign Het
Nfib A G 4: 82,323,658 (GRCm38) V432A probably damaging Het
Nmt1 A G 11: 103,043,200 (GRCm38) K55R probably damaging Het
Olfr1228 T C 2: 89,249,245 (GRCm38) R150G possibly damaging Het
Opa3 C T 7: 19,244,774 (GRCm38) R55W probably damaging Het
Pfn4 T A 12: 4,770,182 (GRCm38) D10E probably damaging Het
Pld5 T A 1: 176,140,017 (GRCm38) I91F probably damaging Het
Plec A C 15: 76,183,117 (GRCm38) S1350A probably damaging Het
Polq G T 16: 37,013,181 (GRCm38) V79F probably damaging Het
Ppp1r16b T C 2: 158,761,765 (GRCm38) Y537H probably damaging Het
Prdm8 T C 5: 98,186,508 (GRCm38) S645P probably damaging Het
Rgs1 T C 1: 144,247,906 (GRCm38) T94A probably benign Het
Rpl11 G A 4: 136,051,143 (GRCm38) probably benign Het
Scamp3 G A 3: 89,181,927 (GRCm38) probably null Het
Sgsm1 TTTTATATT TTT 5: 113,258,123 (GRCm38) probably benign Het
Slc14a2 G A 18: 78,207,068 (GRCm38) R62C probably damaging Het
Stat4 T C 1: 52,071,941 (GRCm38) probably null Het
Tex9 A T 9: 72,480,595 (GRCm38) probably null Het
Tsku T C 7: 98,352,831 (GRCm38) T98A probably benign Het
Ttc23l CT CTTGGATT 15: 10,537,562 (GRCm38) probably benign Het
Ttc23l G A 15: 10,537,566 (GRCm38) S206L probably benign Het
Vmn2r116 A C 17: 23,401,421 (GRCm38) I710L probably benign Het
Vmn2r16 A T 5: 109,363,801 (GRCm38) I625F probably damaging Het
Xpo4 G A 14: 57,591,022 (GRCm38) Q794* probably null Het
Zfp112 T A 7: 24,125,048 (GRCm38) I147N probably damaging Het
Zmiz1 T C 14: 25,636,010 (GRCm38) S140P probably damaging Het
Other mutations in Sirpb1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01384:Sirpb1b APN 3 15,548,729 (GRCm38) missense probably damaging 0.99
IGL01662:Sirpb1b APN 3 15,543,184 (GRCm38) missense probably damaging 1.00
IGL02025:Sirpb1b APN 3 15,548,803 (GRCm38) missense probably damaging 0.99
F5770:Sirpb1b UTSW 3 15,503,183 (GRCm38) missense probably benign 0.25
R0419:Sirpb1b UTSW 3 15,548,596 (GRCm38) missense probably damaging 1.00
R1538:Sirpb1b UTSW 3 15,548,759 (GRCm38) missense possibly damaging 0.81
R3935:Sirpb1b UTSW 3 15,548,783 (GRCm38) missense probably benign 0.05
R4300:Sirpb1b UTSW 3 15,548,761 (GRCm38) missense probably damaging 1.00
R4953:Sirpb1b UTSW 3 15,548,827 (GRCm38) missense probably damaging 1.00
R5425:Sirpb1b UTSW 3 15,548,669 (GRCm38) missense probably damaging 1.00
R6340:Sirpb1b UTSW 3 15,548,665 (GRCm38) missense probably damaging 1.00
R6357:Sirpb1b UTSW 3 15,503,183 (GRCm38) missense possibly damaging 0.79
R6723:Sirpb1b UTSW 3 15,548,798 (GRCm38) missense possibly damaging 0.78
R7152:Sirpb1b UTSW 3 15,542,170 (GRCm38) missense probably benign 0.25
R7390:Sirpb1b UTSW 3 15,543,040 (GRCm38) nonsense probably null
R7411:Sirpb1b UTSW 3 15,542,997 (GRCm38) missense probably benign 0.22
R7513:Sirpb1b UTSW 3 15,542,140 (GRCm38) nonsense probably null
R7526:Sirpb1b UTSW 3 15,548,872 (GRCm38) missense probably damaging 1.00
R8352:Sirpb1b UTSW 3 15,542,350 (GRCm38) missense probably benign 0.03
R8452:Sirpb1b UTSW 3 15,542,350 (GRCm38) missense probably benign 0.03
R8794:Sirpb1b UTSW 3 15,548,783 (GRCm38) missense probably benign 0.05
R9165:Sirpb1b UTSW 3 15,574,904 (GRCm38) missense probably damaging 1.00
R9793:Sirpb1b UTSW 3 15,575,014 (GRCm38) unclassified probably benign
V7583:Sirpb1b UTSW 3 15,503,183 (GRCm38) missense probably benign 0.25
Z1177:Sirpb1b UTSW 3 15,574,941 (GRCm38) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- GAGTCTTCAGACCTGTAGGAGAAATG -3'
(R):5'- GAGAGCTGAAGGTGATCCAACC -3'

Sequencing Primer
(F):5'- CAGACCTGTAGGAGAAATGAAGAATG -3'
(R):5'- CTGAAGGTGATCCAACCTGTTAAATC -3'
Posted On 2015-07-06