Incidental Mutation 'R6223:C1rb'
ID504139
Institutional Source Beutler Lab
Gene Symbol C1rb
Ensembl Gene ENSMUSG00000098470
Gene Namecomplement component 1, r subcomponent B
SynonymsGm8551, mC1rB
MMRRC Submission 044354-MU
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.859) question?
Stock #R6223 (G1)
Quality Score103.008
Status Not validated
Chromosome6
Chromosomal Location124570294-124581171 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 124574580 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 216 (D216E)
Ref Sequence ENSEMBL: ENSMUSP00000139376 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000184647]
Predicted Effect probably benign
Transcript: ENSMUST00000184647
AA Change: D216E

PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000139376
Gene: ENSMUSG00000098470
AA Change: D216E

DomainStartEndE-ValueType
CUB 14 140 2.21e-35 SMART
EGF_CA 141 189 1.88e-10 SMART
CUB 192 304 4.74e-35 SMART
CCP 308 370 2.42e-9 SMART
CCP 375 446 1.53e-6 SMART
Tryp_SPc 462 698 5.36e-75 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6820408C15Rik A C 2: 152,427,953 R8S probably benign Het
Abca8b A G 11: 109,977,846 V164A probably benign Het
Acadm C A 3: 153,938,549 probably null Het
Ap3b2 G A 7: 81,473,462 R435* probably null Het
Art2b A G 7: 101,579,951 F247S possibly damaging Het
Casz1 C A 4: 148,933,383 D90E probably damaging Het
Ccdc13 A G 9: 121,798,909 probably benign Het
Cdc25a C A 9: 109,889,774 P409T possibly damaging Het
Cidea A C 18: 67,358,739 K23T possibly damaging Het
Clspn T A 4: 126,586,168 D1101E probably damaging Het
Col10a1 A T 10: 34,395,187 D385V probably damaging Het
Crat C T 2: 30,407,030 V304I probably benign Het
Cyp2d26 A T 15: 82,791,717 W265R probably benign Het
Dock8 A T 19: 25,161,052 Y1247F probably benign Het
Eed A G 7: 89,956,287 Y365H probably damaging Het
Fabp5 T A 3: 10,015,110 F73L probably benign Het
Fbn1 C T 2: 125,412,671 C224Y possibly damaging Het
Ggcx T C 6: 72,429,605 F684L probably damaging Het
Glrp1 G A 1: 88,503,442 Q69* probably null Het
Gm29797 T C 2: 181,659,057 V115A possibly damaging Het
Gtf3c1 C T 7: 125,676,625 R543K probably benign Het
Ifih1 T C 2: 62,598,259 I891V probably benign Het
Ifnar2 C T 16: 91,387,988 T89M probably damaging Het
Kat6a C A 8: 22,940,426 N1932K unknown Het
Mgat5 A T 1: 127,382,979 D210V possibly damaging Het
Mmel1 A G 4: 154,871,702 probably null Het
Myh3 G T 11: 67,098,017 V1499L probably benign Het
Ncan A C 8: 70,109,954 D551E probably benign Het
Nol11 G T 11: 107,171,616 T598K possibly damaging Het
Olfml3 G A 3: 103,736,460 R202W probably damaging Het
Olfr1362 G A 13: 21,611,366 T201I probably benign Het
Olfr1509 A G 14: 52,450,679 R89G probably benign Het
Pcdh9 T C 14: 93,015,733 K1131E probably benign Het
Pcolce A G 5: 137,605,299 M424T probably damaging Het
Pi16 C A 17: 29,327,439 S397* probably null Het
Pi4ka A T 16: 17,357,571 Y464* probably null Het
Pik3c2b T A 1: 133,070,357 L324M probably damaging Het
Prdm2 T C 4: 143,142,207 N179S probably benign Het
Prss56 C T 1: 87,185,412 P183S probably benign Het
Prx T G 7: 27,516,836 M393R probably damaging Het
Qpctl T C 7: 19,143,209 D328G probably damaging Het
Qser1 A G 2: 104,787,648 S940P probably benign Het
Rchy1 G A 5: 91,957,967 R41W probably damaging Het
Scp2d1 T C 2: 144,823,948 I69T possibly damaging Het
Sirpb1a A G 3: 15,379,026 V388A probably benign Het
Ssu2 G T 6: 112,376,448 C238* probably null Het
Stub1 C T 17: 25,832,813 G14D probably damaging Het
Tab1 T A 15: 80,148,263 C24S probably damaging Het
Tdrd1 T C 19: 56,865,850 V1076A probably damaging Het
Tex10 T C 4: 48,468,525 R134G probably damaging Het
Tg T A 15: 66,707,922 N1525K probably benign Het
Tll2 G A 19: 41,135,952 T208I possibly damaging Het
Tmem232 T C 17: 65,500,196 M1V probably null Het
Ttc7b A G 12: 100,387,109 probably null Het
Ubb A G 11: 62,552,525 E127G possibly damaging Het
Ulk2 A T 11: 61,787,504 Y796* probably null Het
Vdac2 G A 14: 21,845,178 G265R possibly damaging Het
Vmn2r45 A T 7: 8,483,302 V329E probably benign Het
Wdr60 T C 12: 116,257,458 D11G possibly damaging Het
Zfp651 G A 9: 121,763,787 R391Q possibly damaging Het
Other mutations in C1rb
AlleleSourceChrCoordTypePredicted EffectPPH Score
R3722:C1rb UTSW 6 124580661 missense probably damaging 1.00
R4806:C1rb UTSW 6 124574949 missense probably benign 0.18
R5095:C1rb UTSW 6 124580313 missense possibly damaging 0.91
R5572:C1rb UTSW 6 124580799 missense probably benign
R6769:C1rb UTSW 6 124577405 missense probably benign 0.00
R6771:C1rb UTSW 6 124577405 missense probably benign 0.00
R7204:C1rb UTSW 6 124577427 missense probably benign
R7335:C1rb UTSW 6 124575279 missense possibly damaging 0.87
R7341:C1rb UTSW 6 124577452 nonsense probably null
R7554:C1rb UTSW 6 124580406 missense probably damaging 1.00
R7604:C1rb UTSW 6 124580484 missense not run
R7753:C1rb UTSW 6 124580431 missense probably benign 0.00
R7813:C1rb UTSW 6 124580529 missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TCAGAAAGATGGGCAATCCTG -3'
(R):5'- ACTCAGTTCGAGATCCCAGG -3'

Sequencing Primer
(F):5'- AATCCTGCCAGGGTGAGG -3'
(R):5'- TTCGAGATCCCAGGAAGGAGC -3'
Posted On2018-02-28