Incidental Mutation 'RF029:C1s1'
ID 604270
Institutional Source Beutler Lab
Gene Symbol C1s1
Ensembl Gene ENSMUSG00000038521
Gene Name complement component 1, s subcomponent 1
Synonyms C1s
Accession Numbers
Essential gene? Probably non essential (E-score: 0.091) question?
Stock # RF029 (G1)
Quality Score 214.458
Status Not validated
Chromosome 6
Chromosomal Location 124507304-124519318 bp(-) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) CCCATGGCTC to CC at 124518310 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000125531 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000159463] [ENSMUST00000160505] [ENSMUST00000162443] [ENSMUST00000162844]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000159463
SMART Domains Protein: ENSMUSP00000125439
Gene: ENSMUSG00000038521

DomainStartEndE-ValueType
CUB 15 136 1.08e-29 SMART
Predicted Effect probably null
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 probably null
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 null
Transcript: ENSMUST00000162844
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.7%
  • 10x: 99.2%
  • 20x: 98.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5430401F13Rik GGTGGCCAG GGTGGCCAGCAAAAACAGAAAGGAAAAAGTGGCCAG 6: 131,529,858 (GRCm39) probably benign Het
Abca17 T TCCCTC 17: 24,506,701 (GRCm39) probably benign Het
Amot GGAGCAGCAA G X: 144,233,984 (GRCm39) probably benign Het
Cacna1a CCA CCAACA 8: 85,365,353 (GRCm39) probably benign Het
Ccdc170 ACC ACCGCC 10: 4,511,026 (GRCm39) probably benign Het
Cyb5r4 CAGA CAGAGACACTGACCAGGGATGTGATAGA 9: 86,922,483 (GRCm39) probably benign Het
Cyb5r4 CCAGGGA CCAGGGATGTGACAGACACACTGCACAGGGA 9: 86,922,495 (GRCm39) probably benign Het
Defb22 GCGGCA GCGGCAGAGCTGGCCTTTGCGGCA 2: 152,327,753 (GRCm39) probably benign Het
Dnmt1 CGGAGCACAGTTCCTACCTCGTT CGGAGCACAGTTCCTACCTCGTTTTGGGGGAGGAGCACAGTTCCTACCTCGTT 9: 20,821,419 (GRCm39) probably null Het
Eed C A 7: 89,604,240 (GRCm39) A411S probably benign Het
Exd2 CCACAGC CC 12: 80,522,720 (GRCm39) probably null Het
Fam171b GCAGC GCAGCATCAGC 2: 83,643,236 (GRCm39) probably benign Het
Fbrsl1 GCGTGTGCTGGT GCGTGTGCTGGTTCGTGTGCTGGT 5: 110,526,005 (GRCm39) probably benign Het
Fsip2 TAGATGTGAAACCCTTAGAGGTAAGATGTGAAACTCTTAGAGGTAAGA TAGATGTGAAACTCTTAGAGGTAAGA 2: 82,824,352 (GRCm39) probably null Het
Gabre GGCTC GGCTCCTGCTC X: 71,313,665 (GRCm39) probably benign Het
Gm47955 G GTTGTGGCTT 1: 82,938,248 (GRCm39) probably benign Het
Gm572 TGGGGGGGGGGGG TGGGGG 4: 148,755,850 (GRCm39) probably null Het
Hic1 CGGGGGGGGGG CGGGGGGG 11: 75,060,268 (GRCm39) probably benign Het
Ifi208 AGATG AG 1: 173,505,262 (GRCm39) probably benign Het
Il2 GTGG GTGGGGCTTGAACTGG 3: 37,179,976 (GRCm39) probably benign Het
Irag2 TG TGAGCACATGG 6: 145,119,516 (GRCm39) probably benign Het
Krtap28-10 CACAGCCACAGCCAC CACAGCCACAGCCACAACAGCCACAGCCAC 1: 83,019,991 (GRCm39) probably benign Het
Lkaaear1 GCTCCAGCTCCAGCTCCAGCTCCA GCTCCAGCTCCACCTCCAGCTCCAGCTCCAGCTCCA 2: 181,339,372 (GRCm39) probably benign Het
Lkaaear1 CCAGCTCCAGCT CCAGCTCCAGCTACAGCTCCAGCT 2: 181,339,381 (GRCm39) probably benign Het
Nusap1 TGAGGAGCAAGCTGAGA TGAGGAGCAAGCTGAGATACACGTTAGCTGGGAGGAGCAAGCTGAGA 2: 119,458,075 (GRCm39) probably benign Het
Nusap1 CTGAGA CTGAGATACACGTTAGCAGTGAGGAGCAAGATGAGA 2: 119,458,086 (GRCm39) probably benign Het
Pkd1l3 GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA 8: 110,350,827 (GRCm39) probably benign Het
Pnma8a CAACATC CAACATCTCATGATGCACCTGCTTAAACATC 7: 16,695,369 (GRCm39) probably null Het
Polr1has CG CCACCACCACCACCCCCCCCAGG 17: 37,275,963 (GRCm39) probably benign Het
Rasa2 CGC CGCAGC 9: 96,513,520 (GRCm39) probably benign Het
Rbm12 TATTGCGGGACCAGGTATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCAGGCATTGCGGGACC TATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCAGGCATTGCGGGACC 2: 155,938,015 (GRCm39) probably benign Het
Reep1 CGCCA CGCCAGCCA 6: 71,684,950 (GRCm39) probably null Het
Tcof1 CAG CAGAAG 18: 60,968,807 (GRCm39) probably benign Het
Tcof1 AGC AGCGGC 18: 60,968,817 (GRCm39) probably benign Het
Trappc9 GCTGCTGCT GCTGCTGCTGCTGCTTCTGCTGCT 15: 72,673,172 (GRCm39) probably benign Het
Zfhx3 CAGCAACAG CAGCAACAGAAGCAACAG 8: 109,682,724 (GRCm39) 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
R2349:C1s1 UTSW 6 124,518,432 (GRCm39) start gained probably benign
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
Predicted Primers PCR Primer
(F):5'- GTCAAGGTTCATATCTGAGCTCTTTC -3'
(R):5'- GACCATTCCTGACAGGTACC -3'

Sequencing Primer
(F):5'- GGAAATCACATACAACAGGCCTGTG -3'
(R):5'- CCTGACAGGTACCTATTTCTATGG -3'
Posted On 2019-12-04