Incidental Mutation 'R7481:C1ra'
ID 579799
Institutional Source Beutler Lab
Gene Symbol C1ra
Ensembl Gene ENSMUSG00000055172
Gene Name complement component 1, r subcomponent A
Synonyms mC1rA
MMRRC Submission 045555-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7481 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 124489580-124500399 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 124494684 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 316 (E316K)
Ref Sequence ENSEMBL: ENSMUSP00000063707 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068593]
AlphaFold Q8CG16
Predicted Effect probably benign
Transcript: ENSMUST00000068593
AA Change: E316K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000063707
Gene: ENSMUSG00000055172
AA Change: E316K

DomainStartEndE-ValueType
CUB 14 140 1.56e-35 SMART
EGF_CA 141 189 1.88e-10 SMART
CUB 192 304 4.74e-35 SMART
CCP 308 370 5.56e-9 SMART
CCP 375 446 1.53e-6 SMART
Tryp_SPc 462 699 2.7e-71 SMART
Meta Mutation Damage Score 0.0792 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik T C 2: 68,494,575 (GRCm39) F68S unknown Het
Abcb6 A G 1: 75,150,248 (GRCm39) F637L probably damaging Het
Aldh3b3 A G 19: 4,014,549 (GRCm39) M95V probably benign Het
Arhgap45 A T 10: 79,858,134 (GRCm39) H387L possibly damaging Het
Avil C T 10: 126,843,460 (GRCm39) T130I probably benign Het
Bmal2 G A 6: 146,720,369 (GRCm39) A178T not run Het
C3 C A 17: 57,527,136 (GRCm39) W771L probably damaging Het
C6 A G 15: 4,844,357 (GRCm39) I926M Het
Cacna1b G A 2: 24,506,874 (GRCm39) L1903F probably damaging Het
Car3 A T 3: 14,928,632 (GRCm39) M1L probably benign Het
Ccdc175 A G 12: 72,202,398 (GRCm39) I299T probably benign Het
Chd9 C T 8: 91,683,066 (GRCm39) T502I unknown Het
Clec4a1 G A 6: 122,904,998 (GRCm39) C99Y probably damaging Het
Col19a1 C T 1: 24,356,788 (GRCm39) G632R probably damaging Het
Dmbt1 A T 7: 130,681,241 (GRCm39) probably null Het
Dop1a A T 9: 86,417,985 (GRCm39) K1951N probably damaging Het
Dpf3 A C 12: 83,378,701 (GRCm39) L122R probably damaging Het
Edem3 A T 1: 151,683,973 (GRCm39) S687C probably damaging Het
Edem3 G A 1: 151,683,974 (GRCm39) S687N possibly damaging Het
Fig4 A G 10: 41,106,001 (GRCm39) probably null Het
Fmnl2 A G 2: 52,998,443 (GRCm39) T603A unknown Het
Frmd6 T A 12: 70,933,829 (GRCm39) L249Q probably damaging Het
Glrx3 T C 7: 137,046,751 (GRCm39) C48R probably damaging Het
Gm40460 CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG 7: 141,794,554 (GRCm39) probably benign Het
Gm6133 A T 18: 78,393,008 (GRCm39) M1L probably benign Het
Gm9195 G A 14: 72,720,116 (GRCm39) T105I probably benign Het
Hk2 G A 6: 82,737,150 (GRCm39) T54I probably benign Het
Jade1 G A 3: 41,559,125 (GRCm39) G402D probably benign Het
Kmt2a T C 9: 44,720,368 (GRCm39) D3873G unknown Het
Map6 A T 7: 98,918,345 (GRCm39) T373S possibly damaging Het
Megf9 T C 4: 70,351,679 (GRCm39) T481A probably damaging Het
Mtcl3 G T 10: 29,072,519 (GRCm39) V604L probably damaging Het
Mtus1 T A 8: 41,537,652 (GRCm39) K21N probably damaging Het
Muc5b C T 7: 141,414,908 (GRCm39) T2618I unknown Het
Nbas A G 12: 13,406,960 (GRCm39) I852M probably damaging Het
Or14j1 T A 17: 38,146,289 (GRCm39) M133K probably damaging Het
Or4a70 C T 2: 89,324,636 (GRCm39) V7I probably benign Het
Or5b121 A T 19: 13,507,817 (GRCm39) Q304L probably damaging Het
Or5d39 A G 2: 87,980,105 (GRCm39) I86T probably benign Het
Pank4 A G 4: 155,054,495 (GRCm39) N156S probably damaging Het
Pcdhga8 A G 18: 37,860,990 (GRCm39) E682G probably benign Het
Pde10a C A 17: 9,168,262 (GRCm39) D312E possibly damaging Het
Pkhd1l1 A G 15: 44,376,307 (GRCm39) T990A probably benign Het
Rab11fip1 T C 8: 27,646,609 (GRCm39) T156A probably damaging Het
Rhbdd2 T A 5: 135,665,031 (GRCm39) S121T possibly damaging Het
Rsf1 CGGCGGCGG CGGCGGCGGGGGCGGCGG 7: 97,229,124 (GRCm39) probably benign Het
Ryr3 C A 2: 112,508,438 (GRCm39) R3418S probably benign Het
Ryr3 C A 2: 112,508,439 (GRCm39) R3418M possibly damaging Het
Sbno2 G A 10: 79,893,333 (GRCm39) P1323S probably benign Het
Sec24d T C 3: 123,144,412 (GRCm39) C630R probably damaging Het
Selplg GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT 5: 113,957,756 (GRCm39) probably benign Het
Skp2 A T 15: 9,113,905 (GRCm39) V371E probably damaging Het
Strbp A T 2: 37,490,766 (GRCm39) S496R probably benign Het
Stxbp4 G A 11: 90,485,639 (GRCm39) T236I possibly damaging Het
Terf2 C T 8: 107,799,353 (GRCm39) probably null Het
Thnsl1 A T 2: 21,216,599 (GRCm39) T118S probably benign Het
Tlnrd1 A T 7: 83,531,546 (GRCm39) V295E probably damaging Het
Ttll6 A G 11: 96,045,672 (GRCm39) T630A probably benign Het
Usp9y G T Y: 1,432,180 (GRCm39) A435E probably benign Het
Vil1 A C 1: 74,459,058 (GRCm39) R187S probably damaging Het
Vmn2r31 A T 7: 7,387,579 (GRCm39) V664E possibly damaging Het
Wdr17 T C 8: 55,114,371 (GRCm39) I693M probably benign Het
Wdr82 C T 9: 106,053,865 (GRCm39) T72I probably damaging Het
Zbtb5 A G 4: 44,994,905 (GRCm39) S160P probably benign Het
Zfat G A 15: 68,050,715 (GRCm39) Q769* probably null Het
Zfp764l1 C T 7: 126,992,496 (GRCm39) C38Y probably null Het
Zfp937 T A 2: 150,081,266 (GRCm39) I432K probably benign Het
Zglp1 C T 9: 20,973,903 (GRCm39) S261N probably benign Het
Other mutations in C1ra
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00555:C1ra APN 6 124,499,250 (GRCm39) missense probably benign 0.00
IGL03079:C1ra APN 6 124,496,794 (GRCm39) missense probably damaging 1.00
IGL03151:C1ra APN 6 124,496,730 (GRCm39) missense probably benign 0.09
innate UTSW 6 124,499,610 (GRCm39) missense probably damaging 1.00
mueller-eberhardt UTSW 6 124,489,760 (GRCm39) critical splice donor site probably null
pillemer UTSW 6 124,493,683 (GRCm39) missense probably damaging 1.00
R0331:C1ra UTSW 6 124,496,394 (GRCm39) splice site probably null
R0457:C1ra UTSW 6 124,499,712 (GRCm39) missense probably benign
R0472:C1ra UTSW 6 124,494,403 (GRCm39) missense possibly damaging 0.95
R0570:C1ra UTSW 6 124,490,664 (GRCm39) missense probably benign 0.00
R0634:C1ra UTSW 6 124,494,464 (GRCm39) missense possibly damaging 0.49
R0661:C1ra UTSW 6 124,499,336 (GRCm39) missense probably benign
R1451:C1ra UTSW 6 124,498,600 (GRCm39) missense probably benign 0.04
R1640:C1ra UTSW 6 124,499,233 (GRCm39) missense probably benign 0.17
R1698:C1ra UTSW 6 124,499,725 (GRCm39) missense probably benign 0.05
R4020:C1ra UTSW 6 124,496,736 (GRCm39) missense probably benign 0.01
R4801:C1ra UTSW 6 124,490,727 (GRCm39) missense probably benign 0.00
R4802:C1ra UTSW 6 124,490,727 (GRCm39) missense probably benign 0.00
R4909:C1ra UTSW 6 124,499,293 (GRCm39) missense probably damaging 1.00
R5086:C1ra UTSW 6 124,496,688 (GRCm39) missense probably damaging 1.00
R5108:C1ra UTSW 6 124,499,881 (GRCm39) missense probably damaging 1.00
R5372:C1ra UTSW 6 124,498,584 (GRCm39) missense probably damaging 1.00
R5421:C1ra UTSW 6 124,499,749 (GRCm39) missense probably benign 0.36
R5635:C1ra UTSW 6 124,493,683 (GRCm39) missense probably damaging 1.00
R6438:C1ra UTSW 6 124,490,736 (GRCm39) missense possibly damaging 0.54
R6518:C1ra UTSW 6 124,498,534 (GRCm39) splice site probably null
R6738:C1ra UTSW 6 124,494,718 (GRCm39) missense probably damaging 1.00
R6804:C1ra UTSW 6 124,494,684 (GRCm39) missense probably benign
R6805:C1ra UTSW 6 124,494,684 (GRCm39) missense probably benign
R6939:C1ra UTSW 6 124,489,760 (GRCm39) critical splice donor site probably null
R6981:C1ra UTSW 6 124,494,684 (GRCm39) missense probably benign
R6982:C1ra UTSW 6 124,494,684 (GRCm39) missense probably benign
R7056:C1ra UTSW 6 124,494,684 (GRCm39) missense probably benign
R7057:C1ra UTSW 6 124,494,684 (GRCm39) missense probably benign
R7094:C1ra UTSW 6 124,494,684 (GRCm39) missense probably benign
R7468:C1ra UTSW 6 124,499,403 (GRCm39) nonsense probably null
R7476:C1ra UTSW 6 124,499,658 (GRCm39) missense probably damaging 1.00
R7478:C1ra UTSW 6 124,494,684 (GRCm39) missense probably benign
R7479:C1ra UTSW 6 124,494,684 (GRCm39) missense probably benign
R7512:C1ra UTSW 6 124,494,684 (GRCm39) missense probably benign
R7725:C1ra UTSW 6 124,494,684 (GRCm39) missense probably benign
R7728:C1ra UTSW 6 124,494,684 (GRCm39) missense probably benign
R7730:C1ra UTSW 6 124,494,684 (GRCm39) missense probably benign
R7818:C1ra UTSW 6 124,494,684 (GRCm39) missense probably benign
R7819:C1ra UTSW 6 124,494,684 (GRCm39) missense probably benign
R7835:C1ra UTSW 6 124,494,684 (GRCm39) missense probably benign
R7854:C1ra UTSW 6 124,494,700 (GRCm39) missense probably benign 0.00
R7876:C1ra UTSW 6 124,494,684 (GRCm39) missense probably benign
R7877:C1ra UTSW 6 124,494,684 (GRCm39) missense probably benign
R7881:C1ra UTSW 6 124,494,684 (GRCm39) missense probably benign
R7883:C1ra UTSW 6 124,494,684 (GRCm39) missense probably benign
R7892:C1ra UTSW 6 124,496,374 (GRCm39) missense probably benign 0.07
R7899:C1ra UTSW 6 124,494,684 (GRCm39) missense probably benign
R7901:C1ra UTSW 6 124,494,684 (GRCm39) missense probably benign
R7902:C1ra UTSW 6 124,494,684 (GRCm39) missense probably benign
R7903:C1ra UTSW 6 124,494,684 (GRCm39) missense probably benign
R7947:C1ra UTSW 6 124,494,338 (GRCm39) missense probably benign 0.02
R8087:C1ra UTSW 6 124,490,831 (GRCm39) missense probably damaging 1.00
R8098:C1ra UTSW 6 124,494,684 (GRCm39) missense probably benign
R8099:C1ra UTSW 6 124,494,684 (GRCm39) missense probably benign
R8271:C1ra UTSW 6 124,499,610 (GRCm39) missense probably damaging 1.00
R8300:C1ra UTSW 6 124,498,597 (GRCm39) missense probably benign 0.04
R8824:C1ra UTSW 6 124,494,654 (GRCm39) missense probably damaging 0.99
R9227:C1ra UTSW 6 124,493,739 (GRCm39) missense probably damaging 1.00
R9248:C1ra UTSW 6 124,489,580 (GRCm39) start gained probably benign
R9275:C1ra UTSW 6 124,494,383 (GRCm39) missense probably benign 0.26
R9382:C1ra UTSW 6 124,490,819 (GRCm39) missense probably benign 0.00
R9477:C1ra UTSW 6 124,499,455 (GRCm39) missense probably benign 0.00
X0062:C1ra UTSW 6 124,499,398 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CATGGCTTCCTGGGAAACTTG -3'
(R):5'- GAGGGCAGACAGATTGATTCTTCC -3'

Sequencing Primer
(F):5'- ACTTGTGTTGAACATGGATGAGACC -3'
(R):5'- AGACAGATTGATTCTTCCAGCCC -3'
Posted On 2019-10-07