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
Essential gene? Probably non essential (E-score: 0.091) question?
Stock # R1855 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 124507304-124519318 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to C at 124511315 bp (GRCm39)
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: 11,818,195 (GRCm39) L285Q probably damaging Het
Acaca T C 11: 84,262,380 (GRCm39) L1994P probably damaging Het
Adamts9 A G 6: 92,878,350 (GRCm39) probably benign Het
Aff3 T C 1: 38,249,385 (GRCm39) E574G probably benign Het
Ankrd1 T C 19: 36,096,635 (GRCm39) K64R probably damaging Het
Arhgap23 T C 11: 97,339,523 (GRCm39) I163T probably damaging Het
Ascc3 A T 10: 50,494,018 (GRCm39) Q151L probably benign Het
Atad2 G A 15: 57,960,685 (GRCm39) P971L possibly damaging Het
Ccdc150 T C 1: 54,407,069 (GRCm39) probably benign Het
Cdhr3 A T 12: 33,110,351 (GRCm39) I311N probably damaging Het
Chad T A 11: 94,456,303 (GRCm39) L127H probably damaging Het
Clasp1 G A 1: 118,436,624 (GRCm39) A303T probably damaging Het
Clptm1 A G 7: 19,372,134 (GRCm39) V234A probably benign Het
Cnih3 C A 1: 181,282,186 (GRCm39) S140* probably null Het
Col24a1 G A 3: 145,164,895 (GRCm39) G1033D probably damaging Het
Csnk1a1 T A 18: 61,708,498 (GRCm39) probably null Het
Cttnbp2 T A 6: 18,378,412 (GRCm39) I1475L probably benign Het
Dnah5 T C 15: 28,411,815 (GRCm39) V3728A possibly damaging Het
Dock9 C A 14: 121,877,571 (GRCm39) V391F probably damaging Het
Ehmt2 A T 17: 35,129,752 (GRCm39) I949F probably damaging Het
Eif4g1 C A 16: 20,505,911 (GRCm39) T1025K possibly damaging Het
Enpp2 C T 15: 54,709,219 (GRCm39) E803K probably damaging Het
Esrrg A T 1: 187,943,295 (GRCm39) M423L probably damaging Het
Etnppl A T 3: 130,414,371 (GRCm39) I89F probably benign Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Fbln7 A G 2: 128,735,755 (GRCm39) T248A possibly damaging Het
Galnt9 C T 5: 110,763,390 (GRCm39) T465M probably damaging Het
Grcc10 A G 6: 124,717,541 (GRCm39) V57A probably benign Het
Herc1 T A 9: 66,298,708 (GRCm39) M614K possibly damaging Het
Itch C T 2: 155,014,374 (GRCm39) probably benign Het
Kdm6b C A 11: 69,298,112 (GRCm39) A167S probably damaging Het
Kidins220 C T 12: 25,106,590 (GRCm39) R1348C probably damaging Het
Kif17 T C 4: 138,015,582 (GRCm39) L577P probably benign Het
Krt25 A T 11: 99,209,141 (GRCm39) L258Q probably damaging Het
Marchf10 T C 11: 105,281,218 (GRCm39) T356A probably benign Het
Mical2 G A 7: 111,944,489 (GRCm39) A940T probably benign Het
Mrpl4 A G 9: 20,914,667 (GRCm39) E81G possibly damaging Het
Mtcl1 A G 17: 66,686,509 (GRCm39) V447A probably benign Het
Mtor C A 4: 148,637,546 (GRCm39) N2502K probably benign Het
Notch4 G A 17: 34,799,936 (GRCm39) D966N probably benign Het
Oip5 C A 2: 119,442,271 (GRCm39) K214N probably benign Het
Or8a1b A T 9: 37,623,266 (GRCm39) F103Y possibly damaging Het
Pabir2 T A X: 52,342,933 (GRCm39) Q201H probably benign Het
Pak5 A T 2: 135,929,429 (GRCm39) S585T probably benign Het
Pard3 T A 8: 128,174,293 (GRCm39) probably null Het
Pcnx2 A T 8: 126,534,735 (GRCm39) probably benign Het
Pcsk5 T C 19: 17,492,556 (GRCm39) Y939C possibly damaging Het
Pde1a A G 2: 79,728,408 (GRCm39) probably null Het
Pde9a C T 17: 31,674,094 (GRCm39) P60S probably damaging Het
Pikfyve C A 1: 65,297,957 (GRCm39) T1562K probably benign Het
Plekhg6 A T 6: 125,352,802 (GRCm39) M115K probably damaging Het
Pogz C T 3: 94,786,160 (GRCm39) T863I probably benign Het
Ppp1r3a A T 6: 14,754,993 (GRCm39) W85R probably damaging Het
Rnf123 C A 9: 107,938,990 (GRCm39) R826L probably damaging Het
Slc1a6 T A 10: 78,648,758 (GRCm39) V493E probably damaging Het
Slc22a2 A G 17: 12,805,699 (GRCm39) D150G probably damaging Het
Snap47 C T 11: 59,319,159 (GRCm39) probably benign Het
Spata22 A G 11: 73,231,385 (GRCm39) D213G probably benign Het
St6galnac2 T A 11: 116,581,141 (GRCm39) R60S probably benign Het
Stk32c A G 7: 138,701,363 (GRCm39) F263S probably damaging Het
Supt6 T C 11: 78,123,366 (GRCm39) I104V possibly damaging Het
Tex2 T C 11: 106,437,702 (GRCm39) E158G possibly damaging Het
Tiam2 C T 17: 3,465,410 (GRCm39) R380C probably damaging Het
Trim25 C T 11: 88,906,407 (GRCm39) T410I probably benign Het
Usp18 T A 6: 121,239,076 (GRCm39) C212S probably benign Het
Vmn1r2 A G 4: 3,172,588 (GRCm39) Y169C probably damaging Het
Wdr33 A T 18: 32,039,909 (GRCm39) probably benign Het
Xpr1 A G 1: 155,159,002 (GRCm39) Y597H probably benign Het
Yy1 CGGG CGGGGGGGGG 12: 108,759,916 (GRCm39) probably benign Het
Zfp54 T A 17: 21,654,404 (GRCm39) Y299* probably null Het
Zfp566 T G 7: 29,777,927 (GRCm39) S85R 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
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
RF029:C1s1 UTSW 6 124,518,310 (GRCm39) 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