Incidental Mutation 'IGL02549:C1rl'
ID297987
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol C1rl
Ensembl Gene ENSMUSG00000038527
Gene Namecomplement component 1, r subcomponent-like
SynonymsC1rl1, C1r-LP
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02549
Quality Score
Status
Chromosome6
Chromosomal Location124493113-124510643 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 124493837 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 35 (I35F)
Ref Sequence ENSEMBL: ENSMUSP00000042883 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049124]
Predicted Effect possibly damaging
Transcript: ENSMUST00000049124
AA Change: I35F

PolyPhen 2 Score 0.764 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000042883
Gene: ENSMUSG00000038527
AA Change: I35F

DomainStartEndE-ValueType
CUB 42 166 3.19e-18 SMART
Tryp_SPc 239 474 1.25e-52 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203171
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 T C 11: 110,102,053 E1595G probably damaging Het
Adnp2 G A 18: 80,129,118 A692V probably damaging Het
Als2cr12 T C 1: 58,659,282 T326A probably benign Het
Ankk1 A G 9: 49,418,693 S321P probably damaging Het
Ankrd11 T C 8: 122,891,293 Y1919C probably damaging Het
Atp10a A G 7: 58,819,733 T1111A probably benign Het
Avpr1a A T 10: 122,452,164 H359L possibly damaging Het
Casp8 G A 1: 58,833,766 C287Y probably benign Het
Ccdc88c A T 12: 100,928,932 S1437T probably benign Het
Cd200r1 C T 16: 44,789,978 P150S probably damaging Het
Col2a1 G A 15: 97,977,799 R1202C unknown Het
Copb1 A T 7: 114,246,797 D179E probably benign Het
Cyp2c29 C T 19: 39,309,785 T258I possibly damaging Het
Gemin5 T C 11: 58,134,803 Y991C probably damaging Het
Gm4978 T C 9: 69,450,359 probably benign Het
Gm7732 A T 17: 21,129,387 noncoding transcript Het
Gucy2f T C X: 142,160,204 I478V probably benign Het
Herc1 A G 9: 66,399,901 H1001R probably damaging Het
Igsf10 A G 3: 59,329,241 V1173A probably benign Het
Kansl1l T C 1: 66,801,968 T58A probably benign Het
Kcnk13 A T 12: 100,061,751 K362* probably null Het
Lama1 T G 17: 67,790,835 L1737V possibly damaging Het
Lama4 A G 10: 39,060,204 N625S probably benign Het
Loxl1 A T 9: 58,293,638 C514S probably damaging Het
Muc13 A C 16: 33,807,969 E363A probably damaging Het
Noxo1 G T 17: 24,700,171 G289V probably damaging Het
Nudt7 G T 8: 114,151,948 D239Y probably damaging Het
Polr3e G T 7: 120,939,759 V407F probably damaging Het
Pou5f2 T A 13: 78,025,590 L217Q probably damaging Het
R3hdm2 A G 10: 127,484,225 probably benign Het
Rab11fip3 A C 17: 25,994,320 N793K probably damaging Het
Ranbp3l A G 15: 8,968,441 R6G possibly damaging Het
Slco1a6 T A 6: 142,096,415 probably benign Het
Sspo A G 6: 48,451,773 E374G possibly damaging Het
Tg T C 15: 66,839,361 Y991H probably damaging Het
Tnc A G 4: 64,015,072 Y652H probably damaging Het
Trpc4 G A 3: 54,222,349 V179I possibly damaging Het
Xirp2 A G 2: 67,513,102 T1896A probably benign Het
Zfhx3 T C 8: 108,800,509 Y1013H probably damaging Het
Other mutations in C1rl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02435:C1rl APN 6 124508873 missense probably damaging 1.00
IGL02581:C1rl APN 6 124493154 missense possibly damaging 0.83
IGL02642:C1rl APN 6 124493847 missense possibly damaging 0.60
IGL02950:C1rl APN 6 124508861 missense probably damaging 1.00
IGL02980:C1rl UTSW 6 124508528 missense probably benign 0.00
R0699:C1rl UTSW 6 124508636 missense probably benign 0.14
R0848:C1rl UTSW 6 124508506 missense probably benign 0.29
R1221:C1rl UTSW 6 124493981 missense probably benign 0.43
R1654:C1rl UTSW 6 124493910 missense probably damaging 0.97
R1957:C1rl UTSW 6 124509062 missense probably damaging 1.00
R2055:C1rl UTSW 6 124493822 missense probably benign 0.01
R2120:C1rl UTSW 6 124508713 missense probably damaging 0.99
R2262:C1rl UTSW 6 124506948 missense probably damaging 0.99
R2363:C1rl UTSW 6 124509110 missense probably benign 0.13
R3933:C1rl UTSW 6 124508822 nonsense probably null
R4824:C1rl UTSW 6 124509081 nonsense probably null
R5228:C1rl UTSW 6 124508468 missense probably damaging 1.00
R5414:C1rl UTSW 6 124508468 missense probably damaging 1.00
R6008:C1rl UTSW 6 124493188 missense probably benign 0.00
R6467:C1rl UTSW 6 124508576 missense probably benign 0.03
R6549:C1rl UTSW 6 124508528 missense probably benign 0.00
R6609:C1rl UTSW 6 124508624 missense probably benign 0.44
R6998:C1rl UTSW 6 124508902 missense probably damaging 1.00
R7037:C1rl UTSW 6 124508639 missense probably damaging 1.00
Z1088:C1rl UTSW 6 124508742 missense probably benign 0.00
Posted On2015-04-16