Incidental Mutation 'R7335:C1rb'
ID 569431
Institutional Source Beutler Lab
Gene Symbol C1rb
Ensembl Gene ENSMUSG00000098470
Gene Name complement component 1, r subcomponent B
Synonyms mC1rB, Gm8551
MMRRC Submission 045372-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.856) question?
Stock # R7335 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 124547389-124558003 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 124552238 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 319 (I319F)
Ref Sequence ENSEMBL: ENSMUSP00000139376 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000184647]
AlphaFold Q8CFG9
Predicted Effect possibly damaging
Transcript: ENSMUST00000184647
AA Change: I319F

PolyPhen 2 Score 0.867 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000139376
Gene: ENSMUSG00000098470
AA Change: I319F

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: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (56/56)
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts2 A G 11: 50,493,093 (GRCm39) S35G probably benign Het
Adcy6 G T 15: 98,501,757 (GRCm39) Q286K probably benign Het
Agrn A G 4: 156,260,989 (GRCm39) S676P probably damaging Het
Arpp21 A T 9: 112,005,319 (GRCm39) probably null Het
Bmal2 A G 6: 146,711,217 (GRCm39) M74V probably benign Het
C2cd3 T C 7: 100,071,810 (GRCm39) V629A Het
Cacna1i T G 15: 80,259,776 (GRCm39) F1287C probably damaging Het
Catspere2 A G 1: 177,926,074 (GRCm39) I247V probably benign Het
Cd101 C G 3: 100,926,045 (GRCm39) A229P probably benign Het
Cdh23 T C 10: 60,140,895 (GRCm39) D3151G probably damaging Het
Cenpc1 C A 5: 86,182,212 (GRCm39) K557N possibly damaging Het
Col6a4 G A 9: 105,954,091 (GRCm39) T416M possibly damaging Het
Cyp2c67 A T 19: 39,628,451 (GRCm39) C164* probably null Het
Dop1b A G 16: 93,544,396 (GRCm39) E179G probably benign Het
Duoxa2 A T 2: 122,131,821 (GRCm39) Y170F possibly damaging Het
Fras1 A G 5: 96,884,829 (GRCm39) K2569R possibly damaging Het
Fsip2 C A 2: 82,813,462 (GRCm39) H3260Q probably benign Het
Gm3402 T C 5: 146,452,043 (GRCm39) I121T probably benign Het
Herc3 T A 6: 58,853,773 (GRCm39) H606Q possibly damaging Het
Hmcn2 T C 2: 31,282,169 (GRCm39) V1927A possibly damaging Het
Hnf4g A G 3: 3,717,924 (GRCm39) H347R possibly damaging Het
Hs3st3a1 A G 11: 64,411,163 (GRCm39) T234A probably benign Het
Hyal1 G T 9: 107,456,359 (GRCm39) V379L probably benign Het
Ighv1-19 A G 12: 114,672,571 (GRCm39) probably benign Het
Iqcc T A 4: 129,510,501 (GRCm39) Q338L not run Het
Kdm5b T C 1: 134,488,177 (GRCm39) V34A probably damaging Het
Lgals4 T C 7: 28,540,571 (GRCm39) F225L probably benign Het
Lmtk3 C T 7: 45,444,581 (GRCm39) T1088I unknown Het
Magel2 A T 7: 62,030,524 (GRCm39) S1143C unknown Het
Mapk4 A T 18: 74,070,338 (GRCm39) L185Q possibly damaging Het
Mtcl2 T C 2: 156,872,925 (GRCm39) Q862R possibly damaging Het
Ncam1 A G 9: 49,418,211 (GRCm39) S1030P Het
Nynrin A T 14: 56,101,371 (GRCm39) T347S probably benign Het
Pak5 T C 2: 135,940,219 (GRCm39) T532A probably damaging Het
Pcdhb15 A G 18: 37,607,389 (GRCm39) E207G probably damaging Het
Pde6h T C 6: 136,940,211 (GRCm39) W66R probably damaging Het
Pmaip1 T C 18: 66,591,885 (GRCm39) probably null Het
Prkd3 A G 17: 79,261,995 (GRCm39) F774S probably damaging Het
Prox1 T A 1: 189,894,042 (GRCm39) R134S possibly damaging Het
Ptpn22 T A 3: 103,793,335 (GRCm39) H495Q probably damaging Het
Ptprj G T 2: 90,271,126 (GRCm39) Q1201K probably benign Het
Rp1l1 A G 14: 64,269,447 (GRCm39) S1678G probably benign Het
Sez6l G T 5: 112,724,678 (GRCm39) probably null Het
Sgcg T A 14: 61,477,816 (GRCm39) Y91F probably damaging Het
Skint2 C T 4: 112,481,415 (GRCm39) L93F probably damaging Het
Slc22a22 A T 15: 57,126,771 (GRCm39) D99E probably benign Het
Slco3a1 A G 7: 73,934,090 (GRCm39) I694T probably damaging Het
Smurf2 A T 11: 106,736,911 (GRCm39) I305N possibly damaging Het
Stac3 T A 10: 127,340,769 (GRCm39) V178D probably benign Het
Suclg2 G A 6: 95,543,444 (GRCm39) A329V probably damaging Het
Suclg2 T A 6: 95,543,441 (GRCm39) N330I probably damaging Het
Tas2r118 C T 6: 23,969,749 (GRCm39) C104Y probably damaging Het
Tom1l2 T G 11: 60,135,991 (GRCm39) E327D probably benign Het
Trit1 T C 4: 122,910,572 (GRCm39) M57T possibly damaging Het
Vav1 G A 17: 57,603,720 (GRCm39) S134N probably benign Het
Vmn2r82 T C 10: 79,214,722 (GRCm39) L235P probably damaging Het
Zfp735 T A 11: 73,602,379 (GRCm39) V441E possibly damaging Het
Other mutations in C1rb
AlleleSourceChrCoordTypePredicted EffectPPH Score
R3722:C1rb UTSW 6 124,557,620 (GRCm39) missense probably damaging 1.00
R4806:C1rb UTSW 6 124,551,908 (GRCm39) missense probably benign 0.18
R5095:C1rb UTSW 6 124,557,272 (GRCm39) missense possibly damaging 0.91
R5572:C1rb UTSW 6 124,557,758 (GRCm39) missense probably benign
R6223:C1rb UTSW 6 124,551,539 (GRCm39) missense probably benign 0.06
R6769:C1rb UTSW 6 124,554,364 (GRCm39) missense probably benign 0.00
R6771:C1rb UTSW 6 124,554,364 (GRCm39) missense probably benign 0.00
R7204:C1rb UTSW 6 124,554,386 (GRCm39) missense probably benign
R7341:C1rb UTSW 6 124,554,411 (GRCm39) nonsense probably null
R7554:C1rb UTSW 6 124,557,365 (GRCm39) missense probably damaging 1.00
R7604:C1rb UTSW 6 124,557,443 (GRCm39) missense not run
R7753:C1rb UTSW 6 124,557,390 (GRCm39) missense probably benign 0.00
R7813:C1rb UTSW 6 124,557,488 (GRCm39) missense probably benign 0.00
R8423:C1rb UTSW 6 124,551,617 (GRCm39) missense probably damaging 1.00
R8549:C1rb UTSW 6 124,551,498 (GRCm39) missense probably benign 0.04
R8835:C1rb UTSW 6 124,552,217 (GRCm39) missense probably benign 0.02
R9056:C1rb UTSW 6 124,553,984 (GRCm39) missense probably damaging 1.00
R9091:C1rb UTSW 6 124,551,947 (GRCm39) missense probably damaging 1.00
R9270:C1rb UTSW 6 124,551,947 (GRCm39) missense probably damaging 1.00
R9289:C1rb UTSW 6 124,552,272 (GRCm39) missense possibly damaging 0.61
R9390:C1rb UTSW 6 124,557,336 (GRCm39) missense probably damaging 1.00
R9460:C1rb UTSW 6 124,557,865 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TTAGGGTGGAGCAAGGCTTC -3'
(R):5'- ACAGATTGATTCTTTCAGCCCC -3'

Sequencing Primer
(F):5'- CAAGGCTTCCTGGAAAACTTGTG -3'
(R):5'- CACCCTCCATGGCTCCAG -3'
Posted On 2019-09-13