Incidental Mutation 'R2349:C1s1'
ID 266120
Institutional Source Beutler Lab
Gene Symbol C1s1
Ensembl Gene ENSMUSG00000038521
Gene Name complement component 1, s subcomponent 1
Synonyms C1s
MMRRC Submission 040331-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.091) question?
Stock # R2349 (G1)
Quality Score 156
Status Not validated
Chromosome 6
Chromosomal Location 124507304-124519318 bp(-) (GRCm39)
Type of Mutation start gained
DNA Base Change (assembly) C to A at 124518432 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000124109 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000159463] [ENSMUST00000160505] [ENSMUST00000162443] [ENSMUST00000162844]
AlphaFold no structure available at present
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159143
Predicted Effect probably benign
Transcript: ENSMUST00000159463
SMART Domains Protein: ENSMUSP00000125439
Gene: ENSMUSG00000038521

DomainStartEndE-ValueType
CUB 15 136 1.08e-29 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000160505
SMART Domains Protein: ENSMUSP00000125531
Gene: ENSMUSG00000038521

DomainStartEndE-ValueType
CUB 15 136 1.08e-29 SMART
EGF_CA 137 178 1.79e-7 SMART
CUB 181 296 5.89e-31 SMART
CCP 300 360 3.22e-5 SMART
CCP 365 427 5.48e-8 SMART
Tryp_SPc 443 681 1.88e-70 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160967
Predicted Effect probably benign
Transcript: ENSMUST00000162443
SMART Domains Protein: ENSMUSP00000125712
Gene: ENSMUSG00000038521

DomainStartEndE-ValueType
CUB 15 136 1.08e-29 SMART
EGF_CA 137 178 1.79e-7 SMART
CUB 181 296 5.89e-31 SMART
CCP 300 360 3.22e-5 SMART
CCP 365 427 5.48e-8 SMART
Tryp_SPc 443 681 1.88e-70 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000162844
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.6%
Validation Efficiency 100% (34/34)
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34 T C 8: 44,105,415 (GRCm39) K77E probably damaging Het
Arfgef2 T A 2: 166,693,948 (GRCm39) I507N probably damaging Het
Atg16l2 T C 7: 100,945,746 (GRCm39) K231E probably damaging Het
Cdh15 G A 8: 123,583,374 (GRCm39) R59H probably benign Het
Cntrl A G 2: 35,066,263 (GRCm39) T1739A probably benign Het
Col15a1 G A 4: 47,306,742 (GRCm39) M289I probably damaging Het
Crebbp G A 16: 3,956,774 (GRCm39) R350C probably damaging Het
Dbx2 A G 15: 95,522,840 (GRCm39) V289A probably benign Het
Esam A C 9: 37,439,527 (GRCm39) Q4P probably benign Het
Galnt1 A G 18: 24,413,085 (GRCm39) M462V probably benign Het
Got1l1 T C 8: 27,687,959 (GRCm39) T357A probably benign Het
Gpr182 T A 10: 127,586,806 (GRCm39) K48N probably damaging Het
Hdlbp A G 1: 93,349,956 (GRCm39) probably benign Het
Ifi209 G A 1: 173,470,122 (GRCm39) V237M probably damaging Het
Igf2r A T 17: 12,941,198 (GRCm39) probably null Het
Jmjd1c T C 10: 67,091,279 (GRCm39) M2520T probably benign Het
Krt222 A G 11: 99,129,591 (GRCm39) probably benign Het
Nkx2-9 A G 12: 56,659,007 (GRCm39) L69P probably benign Het
Papss1 A G 3: 131,305,627 (GRCm39) D203G probably benign Het
Pex13 A G 11: 23,605,789 (GRCm39) M147T probably damaging Het
Pkd1l1 A T 11: 8,776,819 (GRCm39) probably null Het
Rac2 A G 15: 78,449,675 (GRCm39) V85A possibly damaging Het
Rock2 A G 12: 17,027,616 (GRCm39) N127S probably benign Het
Sfswap C T 5: 129,646,802 (GRCm39) R875C possibly damaging Het
Slco5a1 C T 1: 12,991,376 (GRCm39) V438M probably damaging Het
Thsd4 A G 9: 59,879,798 (GRCm39) Y620H probably benign Het
Trip4 T C 9: 65,773,844 (GRCm39) D246G probably benign Het
Usp10 T C 8: 120,683,448 (GRCm39) *88R probably null Het
Vars1 A G 17: 35,234,728 (GRCm39) I1186V probably benign Het
Vps13c A G 9: 67,864,808 (GRCm39) D3039G possibly damaging Het
Wwp1 A T 4: 19,638,644 (GRCm39) N566K possibly damaging Het
Xpo6 A T 7: 125,712,875 (GRCm39) V701E probably benign Het
Other mutations in C1s1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02225:C1s1 APN 6 124,518,293 (GRCm39) missense probably benign 0.02
IGL02590:C1s1 APN 6 124,508,235 (GRCm39) missense possibly damaging 0.89
IGL02968:C1s1 APN 6 124,517,310 (GRCm39) missense probably damaging 0.99
IGL03301:C1s1 APN 6 124,518,283 (GRCm39) splice site probably benign
BB008:C1s1 UTSW 6 124,510,359 (GRCm39) missense probably damaging 1.00
BB018:C1s1 UTSW 6 124,510,359 (GRCm39) missense probably damaging 1.00
R0105:C1s1 UTSW 6 124,518,277 (GRCm39) splice site probably benign
R0396:C1s1 UTSW 6 124,510,313 (GRCm39) missense probably benign 0.03
R0759:C1s1 UTSW 6 124,508,396 (GRCm39) missense probably damaging 1.00
R1145:C1s1 UTSW 6 124,517,759 (GRCm39) missense probably damaging 1.00
R1145:C1s1 UTSW 6 124,517,759 (GRCm39) missense probably damaging 1.00
R1396:C1s1 UTSW 6 124,508,010 (GRCm39) missense probably damaging 1.00
R1466:C1s1 UTSW 6 124,508,090 (GRCm39) missense probably damaging 1.00
R1466:C1s1 UTSW 6 124,508,090 (GRCm39) missense probably damaging 1.00
R1627:C1s1 UTSW 6 124,514,439 (GRCm39) missense probably damaging 1.00
R1855:C1s1 UTSW 6 124,511,315 (GRCm39) critical splice donor site probably null
R2010:C1s1 UTSW 6 124,514,353 (GRCm39) missense probably damaging 1.00
R4544:C1s1 UTSW 6 124,508,499 (GRCm39) missense probably benign 0.31
R4661:C1s1 UTSW 6 124,513,449 (GRCm39) missense probably benign 0.22
R5383:C1s1 UTSW 6 124,511,360 (GRCm39) missense probably damaging 1.00
R5687:C1s1 UTSW 6 124,517,909 (GRCm39) missense probably benign 0.01
R5846:C1s1 UTSW 6 124,517,912 (GRCm39) missense possibly damaging 0.93
R6289:C1s1 UTSW 6 124,508,135 (GRCm39) missense probably damaging 0.99
R6410:C1s1 UTSW 6 124,508,117 (GRCm39) missense probably damaging 1.00
R6983:C1s1 UTSW 6 124,517,855 (GRCm39) missense possibly damaging 0.93
R7931:C1s1 UTSW 6 124,510,359 (GRCm39) missense probably damaging 1.00
R8141:C1s1 UTSW 6 124,508,321 (GRCm39) missense probably damaging 1.00
R8341:C1s1 UTSW 6 124,508,115 (GRCm39) missense probably damaging 1.00
R8399:C1s1 UTSW 6 124,512,252 (GRCm39) missense probably benign 0.00
R8926:C1s1 UTSW 6 124,513,322 (GRCm39) missense possibly damaging 0.95
R8926:C1s1 UTSW 6 124,510,325 (GRCm39) missense probably damaging 1.00
R9008:C1s1 UTSW 6 124,509,499 (GRCm39) critical splice donor site probably null
R9147:C1s1 UTSW 6 124,517,758 (GRCm39) missense probably damaging 1.00
R9148:C1s1 UTSW 6 124,517,758 (GRCm39) missense probably damaging 1.00
R9153:C1s1 UTSW 6 124,517,906 (GRCm39) missense possibly damaging 0.78
R9177:C1s1 UTSW 6 124,508,362 (GRCm39) missense probably damaging 0.98
RF029:C1s1 UTSW 6 124,518,310 (GRCm39) start codon destroyed probably null
Predicted Primers
Posted On 2015-02-05