Incidental Mutation 'R0356:Sirpb1c'
ID 29816
Institutional Source Beutler Lab
Gene Symbol Sirpb1c
Ensembl Gene ENSMUSG00000074677
Gene Name signal-regulatory protein beta 1C
Synonyms
MMRRC Submission 038562-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.053) question?
Stock # R0356 (G1)
Quality Score 224
Status Validated
Chromosome 3
Chromosomal Location 15849311-15902694 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 15887309 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 175 (N175D)
Ref Sequence ENSEMBL: ENSMUSP00000103986 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050623] [ENSMUST00000108349] [ENSMUST00000108350] [ENSMUST00000108352] [ENSMUST00000108354]
AlphaFold K7N6K7
Predicted Effect probably benign
Transcript: ENSMUST00000050623
AA Change: N177D

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000061216
Gene: ENSMUSG00000074677
AA Change: N177D

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
IG 37 143 3.51e-8 SMART
IGc1 163 236 4.07e-4 SMART
IGc1 266 339 2.21e-5 SMART
transmembrane domain 364 386 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000108349
AA Change: N175D

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000103986
Gene: ENSMUSG00000074677
AA Change: N175D

DomainStartEndE-ValueType
low complexity region 15 23 N/A INTRINSIC
IG 35 141 3.51e-8 SMART
IGc1 161 234 4.07e-4 SMART
IGc1 264 337 2.21e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000108350
AA Change: N177D

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000103987
Gene: ENSMUSG00000074677
AA Change: N177D

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
IG 37 143 3.51e-8 SMART
IGc1 163 236 4.07e-4 SMART
IGc1 266 339 2.21e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000108352
AA Change: N177D

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000103989
Gene: ENSMUSG00000074677
AA Change: N177D

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
IG 37 143 3.51e-8 SMART
IGc1 163 236 4.07e-4 SMART
IGc1 266 339 2.21e-5 SMART
transmembrane domain 370 392 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000108354
AA Change: N177D

PolyPhen 2 Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000103991
Gene: ENSMUSG00000074677
AA Change: N177D

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
IG 37 143 3.51e-8 SMART
IGc1 163 236 4.07e-4 SMART
IGc1 266 339 2.21e-5 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124067
Predicted Effect unknown
Transcript: ENSMUST00000148194
AA Change: N45D
SMART Domains Protein: ENSMUSP00000120527
Gene: ENSMUSG00000074677
AA Change: N45D

DomainStartEndE-ValueType
IGc1 32 105 4.07e-4 SMART
IGc1 135 208 2.21e-5 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191802
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.6%
  • 10x: 94.4%
  • 20x: 86.1%
Validation Efficiency 100% (47/47)
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9430097D07Rik T C 2: 32,464,418 (GRCm39) probably benign Het
Adgrg6 C T 10: 14,302,642 (GRCm39) V924M possibly damaging Het
Anxa9 A G 3: 95,215,387 (GRCm39) probably benign Het
Ap3d1 G T 10: 80,563,812 (GRCm39) S122R probably damaging Het
Arhgap5 T C 12: 52,563,091 (GRCm39) S21P probably damaging Het
Atp13a5 A G 16: 29,167,573 (GRCm39) probably benign Het
AU040320 A T 4: 126,731,155 (GRCm39) D618V probably damaging Het
Cbfa2t2 T A 2: 154,373,269 (GRCm39) D475E probably benign Het
Ccdc202 T A 14: 96,119,801 (GRCm39) V186E possibly damaging Het
Ccdc62 G A 5: 124,092,811 (GRCm39) V599I probably benign Het
Cenpj T C 14: 56,786,953 (GRCm39) E917G probably damaging Het
Cog5 T C 12: 31,887,180 (GRCm39) probably benign Het
Col9a1 T A 1: 24,224,328 (GRCm39) L170* probably null Het
Daxx T A 17: 34,132,867 (GRCm39) V627D probably benign Het
Dnah9 A G 11: 66,021,388 (GRCm39) probably null Het
Drg2 T A 11: 60,352,407 (GRCm39) V203E probably damaging Het
Fbxl17 G A 17: 63,663,846 (GRCm39) R67C probably damaging Het
Fer1l4 T C 2: 155,865,930 (GRCm39) Y1586C probably damaging Het
Gp6 A T 7: 4,373,141 (GRCm39) probably benign Het
Hhip T C 8: 80,724,121 (GRCm39) I374V probably benign Het
Hspa12b G T 2: 130,986,719 (GRCm39) V547L possibly damaging Het
Iars1 G A 13: 49,856,709 (GRCm39) V321I probably benign Het
Itga8 T C 2: 12,187,532 (GRCm39) M716V possibly damaging Het
Lcn5 T C 2: 25,550,705 (GRCm39) I131T probably damaging Het
Mki67 G A 7: 135,306,135 (GRCm39) T614M probably benign Het
Mmp3 G A 9: 7,451,768 (GRCm39) E369K probably benign Het
Myt1l A G 12: 29,861,500 (GRCm39) D94G unknown Het
Neil1 T C 9: 57,054,180 (GRCm39) I47V possibly damaging Het
Nr5a2 T C 1: 136,773,430 (GRCm39) N424S possibly damaging Het
Or1e21 A T 11: 73,344,906 (GRCm39) I44N possibly damaging Het
Or51f5 A T 7: 102,424,286 (GRCm39) D185V probably damaging Het
Or5b120 A G 19: 13,480,441 (GRCm39) T245A possibly damaging Het
Or7e166 G T 9: 19,624,743 (GRCm39) G207C probably damaging Het
Pakap C A 4: 57,855,628 (GRCm39) T360K possibly damaging Het
Pde8b G T 13: 95,182,962 (GRCm39) N265K probably damaging Het
Prpf40b T C 15: 99,203,080 (GRCm39) probably null Het
Samd9l T C 6: 3,375,107 (GRCm39) D718G possibly damaging Het
Srgap1 A T 10: 121,691,441 (GRCm39) probably null Het
Tgm5 T A 2: 120,884,055 (GRCm39) T313S probably damaging Het
Tigar A G 6: 127,068,145 (GRCm39) probably null Het
Tmprss11b A G 5: 86,808,326 (GRCm39) *417Q probably null Het
Trim32 G A 4: 65,531,491 (GRCm39) R16Q probably damaging Het
Ttll11 T C 2: 35,792,688 (GRCm39) D385G possibly damaging Het
Zfp426 T C 9: 20,382,541 (GRCm39) T135A probably benign Het
Other mutations in Sirpb1c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01963:Sirpb1c APN 3 15,892,937 (GRCm39) missense probably benign 0.06
R0094:Sirpb1c UTSW 3 15,892,922 (GRCm39) missense possibly damaging 0.73
R0442:Sirpb1c UTSW 3 15,856,710 (GRCm39) missense probably benign 0.09
R3731:Sirpb1c UTSW 3 15,887,287 (GRCm39) missense probably damaging 1.00
R4812:Sirpb1c UTSW 3 15,887,386 (GRCm39) missense probably damaging 0.99
R5802:Sirpb1c UTSW 3 15,886,240 (GRCm39) missense probably benign 0.00
R6315:Sirpb1c UTSW 3 15,886,470 (GRCm39) missense possibly damaging 0.71
R7107:Sirpb1c UTSW 3 15,892,941 (GRCm39) missense possibly damaging 0.91
R7148:Sirpb1c UTSW 3 15,887,223 (GRCm39) nonsense probably null
R7349:Sirpb1c UTSW 3 15,886,310 (GRCm39) critical splice donor site probably null
R7356:Sirpb1c UTSW 3 15,886,297 (GRCm39) missense probably benign
R7359:Sirpb1c UTSW 3 15,887,389 (GRCm39) missense probably benign 0.02
R7466:Sirpb1c UTSW 3 15,886,430 (GRCm39) missense probably damaging 1.00
R7629:Sirpb1c UTSW 3 15,902,559 (GRCm39) missense possibly damaging 0.86
R7720:Sirpb1c UTSW 3 15,886,236 (GRCm39) missense probably benign 0.00
R7726:Sirpb1c UTSW 3 15,902,550 (GRCm39) missense possibly damaging 0.92
R7853:Sirpb1c UTSW 3 15,887,156 (GRCm39) missense probably damaging 1.00
R7886:Sirpb1c UTSW 3 15,886,366 (GRCm39) missense probably benign 0.10
R8519:Sirpb1c UTSW 3 15,902,526 (GRCm39) missense possibly damaging 0.72
R8847:Sirpb1c UTSW 3 15,886,584 (GRCm39) nonsense probably null
R8854:Sirpb1c UTSW 3 15,887,308 (GRCm39) missense possibly damaging 0.83
Predicted Primers PCR Primer
(F):5'- TGAGAGGGGCTCGATCTAAAGTGAC -3'
(R):5'- TGCCTGGTAACAACAATCCTGACAG -3'

Sequencing Primer
(F):5'- GCTCGATCTAAAGTGACATGATCC -3'
(R):5'- TGGTAACAACAATCCTGACAGTAAAC -3'
Posted On 2013-04-24