Incidental Mutation 'R1855:C1s1'
ID 206022
Institutional Source Beutler Lab
Gene Symbol C1s1
Ensembl Gene ENSMUSG00000038521
Gene Name complement component 1, s subcomponent 1
Synonyms C1s
MMRRC Submission 039879-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.108) question?
Stock # R1855 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 124530345-124542359 bp(-) (GRCm38)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to C at 124534356 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000125712 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000160505] [ENSMUST00000162443]
AlphaFold no structure available at present
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159143
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 noncoding transcript
Transcript: ENSMUST00000160967
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
Meta Mutation Damage Score 0.9492 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.9%
  • 10x: 95.3%
  • 20x: 92.4%
Validation Efficiency 97% (72/74)
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A830018L16Rik T A 1: 11,747,971 L285Q probably damaging Het
Acaca T C 11: 84,371,554 L1994P probably damaging Het
Adamts9 A G 6: 92,901,369 probably benign Het
Aff3 T C 1: 38,210,304 E574G probably benign Het
Ankrd1 T C 19: 36,119,235 K64R probably damaging Het
Arhgap23 T C 11: 97,448,697 I163T probably damaging Het
Ascc3 A T 10: 50,617,922 Q151L probably benign Het
Atad2 G A 15: 58,097,289 P971L possibly damaging Het
Ccdc150 T C 1: 54,367,910 probably benign Het
Cdhr3 A T 12: 33,060,352 I311N probably damaging Het
Chad T A 11: 94,565,477 L127H probably damaging Het
Clasp1 G A 1: 118,508,894 A303T probably damaging Het
Clptm1 A G 7: 19,638,209 V234A probably benign Het
Cnih3 C A 1: 181,454,621 S140* probably null Het
Col24a1 G A 3: 145,459,140 G1033D probably damaging Het
Csnk1a1 T A 18: 61,575,427 probably null Het
Cttnbp2 T A 6: 18,378,413 I1475L probably benign Het
Dnah5 T C 15: 28,411,669 V3728A possibly damaging Het
Dock9 C A 14: 121,640,159 V391F probably damaging Het
Ehmt2 A T 17: 34,910,776 I949F probably damaging Het
Eif4g1 C A 16: 20,687,161 T1025K possibly damaging Het
Enpp2 C T 15: 54,845,823 E803K probably damaging Het
Esrrg A T 1: 188,211,098 M423L probably damaging Het
Etnppl A T 3: 130,620,722 I89F probably benign Het
Fabp3 C T 4: 130,312,387 T57I probably benign Het
Fam122b T A X: 53,254,056 Q201H probably benign Het
Fbln7 A G 2: 128,893,835 T248A possibly damaging Het
Galnt9 C T 5: 110,615,524 T465M probably damaging Het
Grcc10 A G 6: 124,740,578 V57A probably benign Het
Herc1 T A 9: 66,391,426 M614K possibly damaging Het
Itch C T 2: 155,172,454 probably benign Het
Kdm6b C A 11: 69,407,286 A167S probably damaging Het
Kidins220 C T 12: 25,056,591 R1348C probably damaging Het
Kif17 T C 4: 138,288,271 L577P probably benign Het
Krt25 A T 11: 99,318,315 L258Q probably damaging Het
March10 T C 11: 105,390,392 T356A probably benign Het
Mical2 G A 7: 112,345,282 A940T probably benign Het
Mrpl4 A G 9: 21,003,371 E81G possibly damaging Het
Mtcl1 A G 17: 66,379,514 V447A probably benign Het
Mtor C A 4: 148,553,089 N2502K probably benign Het
Notch4 G A 17: 34,580,962 D966N probably benign Het
Oip5 C A 2: 119,611,790 K214N probably benign Het
Olfr160 A T 9: 37,711,970 F103Y possibly damaging Het
Pak7 A T 2: 136,087,509 S585T probably benign Het
Pard3 T A 8: 127,447,812 probably null Het
Pcnx2 A T 8: 125,807,996 probably benign Het
Pcsk5 T C 19: 17,515,192 Y939C possibly damaging Het
Pde1a A G 2: 79,898,064 probably null Het
Pde9a C T 17: 31,455,120 P60S probably damaging Het
Pikfyve C A 1: 65,258,798 T1562K probably benign Het
Plekhg6 A T 6: 125,375,839 M115K probably damaging Het
Pogz C T 3: 94,878,849 T863I probably benign Het
Ppp1r3a A T 6: 14,754,994 W85R probably damaging Het
Rnf123 C A 9: 108,061,791 R826L probably damaging Het
Slc1a6 T A 10: 78,812,924 V493E probably damaging Het
Slc22a2 A G 17: 12,586,812 D150G probably damaging Het
Snap47 C T 11: 59,428,333 probably benign Het
Spata22 A G 11: 73,340,559 D213G probably benign Het
St6galnac2 T A 11: 116,690,315 R60S probably benign Het
Stk32c A G 7: 139,121,447 F263S probably damaging Het
Supt6 T C 11: 78,232,540 I104V possibly damaging Het
Tex2 T C 11: 106,546,876 E158G possibly damaging Het
Tiam2 C T 17: 3,415,135 R380C probably damaging Het
Trim25 C T 11: 89,015,581 T410I probably benign Het
Usp18 T A 6: 121,262,117 C212S probably benign Het
Vmn1r2 A G 4: 3,172,588 Y169C probably damaging Het
Wdr33 A T 18: 31,906,856 probably benign Het
Xpr1 A G 1: 155,283,256 Y597H probably benign Het
Yy1 CGGG CGGGGGGGGG 12: 108,793,990 probably benign Het
Zfp54 T A 17: 21,434,142 Y299* probably null Het
Zfp566 T G 7: 30,078,502 S85R probably benign Het
Other mutations in C1s1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02225:C1s1 APN 6 124541334 missense probably benign 0.02
IGL02590:C1s1 APN 6 124531276 missense possibly damaging 0.89
IGL02968:C1s1 APN 6 124540351 missense probably damaging 0.99
IGL03301:C1s1 APN 6 124541324 splice site probably benign
BB008:C1s1 UTSW 6 124533400 missense probably damaging 1.00
BB018:C1s1 UTSW 6 124533400 missense probably damaging 1.00
R0105:C1s1 UTSW 6 124541318 splice site probably benign
R0396:C1s1 UTSW 6 124533354 missense probably benign 0.03
R0759:C1s1 UTSW 6 124531437 missense probably damaging 1.00
R1145:C1s1 UTSW 6 124540800 missense probably damaging 1.00
R1145:C1s1 UTSW 6 124540800 missense probably damaging 1.00
R1396:C1s1 UTSW 6 124531051 missense probably damaging 1.00
R1466:C1s1 UTSW 6 124531131 missense probably damaging 1.00
R1466:C1s1 UTSW 6 124531131 missense probably damaging 1.00
R1627:C1s1 UTSW 6 124537480 missense probably damaging 1.00
R2010:C1s1 UTSW 6 124537394 missense probably damaging 1.00
R2349:C1s1 UTSW 6 124541473 start gained probably benign
R4544:C1s1 UTSW 6 124531540 missense probably benign 0.31
R4661:C1s1 UTSW 6 124536490 missense probably benign 0.22
R5383:C1s1 UTSW 6 124534401 missense probably damaging 1.00
R5687:C1s1 UTSW 6 124540950 missense probably benign 0.01
R5846:C1s1 UTSW 6 124540953 missense possibly damaging 0.93
R6289:C1s1 UTSW 6 124531176 missense probably damaging 0.99
R6410:C1s1 UTSW 6 124531158 missense probably damaging 1.00
R6983:C1s1 UTSW 6 124540896 missense possibly damaging 0.93
R7931:C1s1 UTSW 6 124533400 missense probably damaging 1.00
R8141:C1s1 UTSW 6 124531362 missense probably damaging 1.00
R8341:C1s1 UTSW 6 124531156 missense probably damaging 1.00
R8399:C1s1 UTSW 6 124535293 missense probably benign 0.00
R8926:C1s1 UTSW 6 124533366 missense probably damaging 1.00
R8926:C1s1 UTSW 6 124536363 missense possibly damaging 0.95
R9008:C1s1 UTSW 6 124532540 critical splice donor site probably null
R9147:C1s1 UTSW 6 124540799 missense probably damaging 1.00
R9148:C1s1 UTSW 6 124540799 missense probably damaging 1.00
R9153:C1s1 UTSW 6 124540947 missense possibly damaging 0.78
R9177:C1s1 UTSW 6 124531403 missense probably damaging 0.98
RF029:C1s1 UTSW 6 124541351 start codon destroyed probably null
Predicted Primers PCR Primer
(F):5'- GCTGCGATGAGAAGACAACTC -3'
(R):5'- AAATAGCACACGGTTTCCAGC -3'

Sequencing Primer
(F):5'- AACTCTGTCCCGGCATTTCAG -3'
(R):5'- AGCACACGGTTTCCAGCTATTTAG -3'
Posted On 2014-06-23