Incidental Mutation 'R8854:Sirpb1c'
ID 675157
Institutional Source Beutler Lab
Gene Symbol Sirpb1c
Ensembl Gene ENSMUSG00000074677
Gene Name signal-regulatory protein beta 1C
Synonyms
MMRRC Submission 068676-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.053) question?
Stock # R8854 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 15849311-15902694 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 15887308 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 177 (N177S)
Ref Sequence ENSEMBL: ENSMUSP00000103989 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050623] [ENSMUST00000108349] [ENSMUST00000108350] [ENSMUST00000108352] [ENSMUST00000108354]
AlphaFold K7N6K7
Predicted Effect possibly damaging
Transcript: ENSMUST00000050623
AA Change: N177S

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000061216
Gene: ENSMUSG00000074677
AA Change: N177S

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: N175S

PolyPhen 2 Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000103986
Gene: ENSMUSG00000074677
AA Change: N175S

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: N177S

PolyPhen 2 Score 0.293 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000103987
Gene: ENSMUSG00000074677
AA Change: N177S

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 possibly damaging
Transcript: ENSMUST00000108352
AA Change: N177S

PolyPhen 2 Score 0.832 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000103989
Gene: ENSMUSG00000074677
AA Change: N177S

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: N177S

PolyPhen 2 Score 0.850 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000103991
Gene: ENSMUSG00000074677
AA Change: N177S

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
SMART Domains Protein: ENSMUSP00000120527
Gene: ENSMUSG00000074677
AA Change: N45S

DomainStartEndE-ValueType
IGc1 32 105 4.07e-4 SMART
IGc1 135 208 2.21e-5 SMART
Meta Mutation Damage Score 0.1712 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.4%
Validation Efficiency 100% (64/64)
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh1a1 G A 19: 20,588,297 (GRCm39) W29* probably null Het
Ankib1 C A 5: 3,777,489 (GRCm39) W467L probably null Het
Arhgef10 A G 8: 15,029,798 (GRCm39) probably null Het
Arpc1b C A 5: 145,060,405 (GRCm39) R66S probably benign Het
Atoh1 A T 6: 64,706,189 (GRCm39) probably benign Het
Bach2 T A 4: 32,575,263 (GRCm39) D619E possibly damaging Het
Bbs9 T C 9: 22,490,060 (GRCm39) I277T probably damaging Het
Cadps2 G A 6: 23,385,507 (GRCm39) P772S probably damaging Het
Cd1d1 T A 3: 86,905,480 (GRCm39) D171V probably damaging Het
Cfap20dc A T 14: 8,518,638 (GRCm38) S273T probably damaging Het
Clca3a2 C T 3: 144,783,852 (GRCm39) A588T possibly damaging Het
Cps1 A G 1: 67,200,048 (GRCm39) K399E probably damaging Het
Cpt1a T C 19: 3,406,327 (GRCm39) S98P probably benign Het
Cryzl2 A G 1: 157,286,370 (GRCm39) K36R possibly damaging Het
Cxcl13 T C 5: 96,104,861 (GRCm39) L11P unknown Het
Dbf4 T A 5: 8,458,562 (GRCm39) D151V probably damaging Het
Eogt A T 6: 97,108,359 (GRCm39) C227* probably null Het
Fermt3 T A 19: 6,991,310 (GRCm39) D231V probably damaging Het
Il2rb T C 15: 78,369,953 (GRCm39) T229A probably benign Het
Ildr1 T A 16: 36,535,910 (GRCm39) Y142N probably damaging Het
Kcnv2 A T 19: 27,311,258 (GRCm39) T542S probably benign Het
Kif26b G A 1: 178,743,948 (GRCm39) G1348E possibly damaging Het
Lancl1 C T 1: 67,073,358 (GRCm39) E42K possibly damaging Het
Lrp1 T A 10: 127,378,968 (GRCm39) D4010V probably damaging Het
Mark2 A G 19: 7,258,369 (GRCm39) V640A probably benign Het
Megf6 C T 4: 154,352,469 (GRCm39) T1276M probably damaging Het
Meioc T C 11: 102,566,589 (GRCm39) M735T probably damaging Het
Mfsd4b5 C A 10: 39,846,735 (GRCm39) V282L probably damaging Het
Mlx T A 11: 100,981,951 (GRCm39) V286E Het
Ms4a18 G A 19: 10,990,887 (GRCm39) T69I probably benign Het
Muc1 C T 3: 89,139,412 (GRCm39) P604L probably damaging Het
Net1 G T 13: 3,934,214 (GRCm39) D548E probably benign Het
Ngly1 T C 14: 16,281,769 (GRCm38) S342P probably damaging Het
Niban1 A G 1: 151,584,950 (GRCm39) K516E probably damaging Het
Nipbl A T 15: 8,330,210 (GRCm39) I2405N probably damaging Het
Nkx2-1 A T 12: 56,580,206 (GRCm39) C245S probably benign Het
Or52ab7 T C 7: 102,978,023 (GRCm39) I110T probably damaging Het
Or5p76 T A 7: 108,122,936 (GRCm39) I74L probably benign Het
Pcare T C 17: 72,056,326 (GRCm39) Y1117C probably benign Het
Pcdhgb5 C T 18: 37,865,501 (GRCm39) T432I probably benign Het
Plpp4 T A 7: 128,909,362 (GRCm39) L24* probably null Het
Pnma8a T C 7: 16,695,104 (GRCm39) S320P possibly damaging Het
Sass6 C A 3: 116,399,384 (GRCm39) Q93K possibly damaging Het
Slc22a30 A G 19: 8,363,754 (GRCm39) probably null Het
Snd1 A G 6: 28,526,968 (GRCm39) H217R probably benign Het
Spata31d1c C A 13: 65,183,804 (GRCm39) Q449K possibly damaging Het
Spidr A G 16: 15,707,630 (GRCm39) V889A probably damaging Het
Suclg2 A T 6: 95,572,650 (GRCm39) V105D probably damaging Het
Syne1 A T 10: 5,078,503 (GRCm39) M974K probably benign Het
Tbrg4 A T 11: 6,566,691 (GRCm39) D605E probably benign Het
Tcn2 A G 11: 3,876,074 (GRCm39) F118S possibly damaging Het
Tcstv2b T A 13: 120,377,825 (GRCm39) probably benign Het
Tfap4 T C 16: 4,367,238 (GRCm39) H208R probably benign Het
Trf A G 9: 103,107,529 (GRCm39) probably benign Het
Trpc4 A T 3: 54,102,122 (GRCm39) K7* probably null Het
Uap1 G T 1: 169,976,984 (GRCm39) P405Q probably damaging Het
Usp33 C A 3: 152,073,967 (GRCm39) T271N probably benign Het
Usp42 T C 5: 143,702,632 (GRCm39) D663G possibly damaging Het
Vmn2r10 T C 5: 109,144,126 (GRCm39) D608G probably benign Het
Wfdc16 G A 2: 164,480,486 (GRCm39) P3L probably benign Het
Zfp28 T C 7: 6,397,938 (GRCm39) I791T probably benign Het
Zfp970 A T 2: 177,165,088 (GRCm39) T5S probably damaging Het
Zfy1 A T Y: 726,501 (GRCm39) H421Q possibly damaging 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
R0356:Sirpb1c UTSW 3 15,887,309 (GRCm39) missense possibly damaging 0.95
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
Predicted Primers PCR Primer
(F):5'- GGGCTCGATCTAAAGTGACATG -3'
(R):5'- CAGGTTCCTAGTTGCCTGGTAAC -3'

Sequencing Primer
(F):5'- GTGACATGATCCACTTCACAGATG -3'
(R):5'- GGTAACAACAATCCTGACAGTAAAC -3'
Posted On 2021-07-15