Incidental Mutation 'R7057:C1ra'
ID 547980
Institutional Source Beutler Lab
Gene Symbol C1ra
Ensembl Gene ENSMUSG00000055172
Gene Name complement component 1, r subcomponent A
Synonyms mC1rA
MMRRC Submission 045154-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7057 (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: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810009J06Rik T A 6: 40,945,181 (GRCm39) V220D probably benign Het
Ankrd1 T C 19: 36,095,633 (GRCm39) E113G possibly damaging Het
Aqp12 T C 1: 92,939,718 (GRCm39) L249P probably damaging Het
Atg4a-ps A G 3: 103,553,296 (GRCm39) F15S possibly damaging Het
Bub1 T A 2: 127,671,447 (GRCm39) M46L probably benign Het
C2cd4d A G 3: 94,270,800 (GRCm39) H22R probably benign Het
Ccdc157 A G 11: 4,094,586 (GRCm39) V480A probably benign Het
Cdc42ep3 G A 17: 79,642,952 (GRCm39) probably benign Het
Cela1 T A 15: 100,580,774 (GRCm39) T161S possibly damaging Het
Chtf18 G T 17: 25,940,100 (GRCm39) A697E possibly damaging Het
Cr2 T C 1: 194,833,918 (GRCm39) D957G possibly damaging Het
Cyp2c40 A G 19: 39,796,063 (GRCm39) V60A probably damaging Het
Dazl CCATGATGGCGGC CC 17: 50,600,434 (GRCm39) probably null Het
Dock2 A T 11: 34,177,684 (GRCm39) L1824Q probably benign Het
Dock2 T C 11: 34,586,044 (GRCm39) Y546C probably benign Het
Focad G A 4: 88,192,342 (GRCm39) C557Y unknown Het
Ftmt T A 18: 52,465,180 (GRCm39) N165K probably benign Het
Gen1 A C 12: 11,292,419 (GRCm39) S457A probably benign Het
Gja1 T G 10: 56,264,129 (GRCm39) S163A probably benign Het
Gm8267 T C 14: 44,959,481 (GRCm39) I194M probably damaging Het
Golga3 T A 5: 110,336,529 (GRCm39) S389R probably damaging Het
Gpc5 C A 14: 115,370,654 (GRCm39) Q87K possibly damaging Het
Hmcn2 G A 2: 31,312,661 (GRCm39) A3420T probably damaging Het
Htt A G 5: 34,979,067 (GRCm39) S817G probably null Het
Hus1b C T 13: 31,131,533 (GRCm39) C42Y possibly damaging Het
Iars2 A G 1: 185,021,564 (GRCm39) F913L probably benign Het
Kcna4 A G 2: 107,125,665 (GRCm39) E133G probably damaging Het
Klhl36 T C 8: 120,603,536 (GRCm39) L597P probably benign Het
Ltv1 T C 10: 13,056,646 (GRCm39) E299G possibly damaging Het
Mmp12 A G 9: 7,357,840 (GRCm39) Y348C probably damaging Het
Mmp12 G A 9: 7,369,173 (GRCm39) V270I probably benign Het
Mmp2 A G 8: 93,558,333 (GRCm39) D134G probably damaging Het
Mrpl15 A T 1: 4,846,865 (GRCm39) M237K probably benign Het
Ms4a6b G T 19: 11,504,253 (GRCm39) V177F possibly damaging Het
Muc16 A G 9: 18,557,375 (GRCm39) S2973P unknown Het
Or1e30 A C 11: 73,677,974 (GRCm39) D70A possibly damaging Het
Or4c114 A C 2: 88,904,808 (GRCm39) I209S possibly damaging Het
Or5b120 G T 19: 13,480,243 (GRCm39) D179Y probably damaging Het
Or5b12b A T 19: 12,862,006 (GRCm39) I254F probably damaging Het
Or8b48 A T 9: 38,493,050 (GRCm39) H159L probably damaging Het
Pikfyve T A 1: 65,286,364 (GRCm39) I1201K probably benign Het
Plekhn1 T G 4: 156,318,374 (GRCm39) M83L probably damaging Het
Pnlip G T 19: 58,664,695 (GRCm39) D212Y probably damaging Het
Pomt2 T C 12: 87,174,152 (GRCm39) N417S probably damaging Het
Pxylp1 T A 9: 96,707,103 (GRCm39) M360L probably benign Het
Rbak G A 5: 143,159,682 (GRCm39) T457I possibly damaging Het
Runx2 A T 17: 45,125,424 (GRCm39) W31R probably null Het
Sec16a T A 2: 26,315,277 (GRCm39) I1795F probably damaging Het
Sik2 A T 9: 50,909,861 (GRCm39) I64N probably damaging Het
Slc26a8 T C 17: 28,857,371 (GRCm39) E924G possibly damaging Het
Slc30a2 G A 4: 134,074,726 (GRCm39) R161Q probably damaging Het
Slc45a4 C A 15: 73,459,487 (GRCm39) D174Y probably damaging Het
Slc6a6 A C 6: 91,718,248 (GRCm39) E354A probably damaging Het
Slc8a1 A T 17: 81,956,524 (GRCm39) S171R probably damaging Het
Srgap1 T C 10: 121,640,858 (GRCm39) I669M probably benign Het
Stk39 C A 2: 68,240,471 (GRCm39) A87S possibly damaging Het
Tasor A T 14: 27,183,608 (GRCm39) N689I probably damaging Het
Tbx18 C A 9: 87,587,317 (GRCm39) S600I possibly damaging Het
Tesc A C 5: 118,193,025 (GRCm39) K114Q probably damaging Het
Tll1 T C 8: 64,554,915 (GRCm39) D256G probably damaging Het
Tmem35b T A 4: 127,021,679 (GRCm39) I45K probably benign Het
Tnks T C 8: 35,307,168 (GRCm39) D1127G probably damaging Het
Trpm8 A T 1: 88,289,802 (GRCm39) D920V probably null Het
U2af1 A T 17: 31,867,831 (GRCm39) D79E probably benign Het
Zfp704 T C 3: 9,535,977 (GRCm39) D331G probably damaging Het
Znrf3 G T 11: 5,232,442 (GRCm39) P261Q probably benign Het
Zscan4b A T 7: 10,635,636 (GRCm39) C202* probably null 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
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
R7481: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'- AGCATGGCTTCCTGGGAAAC -3'
(R):5'- GGCAGACAGATTGATTCTTCCAG -3'

Sequencing Primer
(F):5'- ACTTGTGTTGAACATGGATGAGACC -3'
(R):5'- AGATTGATTCTTCCAGCCCCAAC -3'
Posted On 2019-05-13