Incidental Mutation 'IGL02382:Cflar'
ID 291415
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cflar
Ensembl Gene ENSMUSG00000026031
Gene Name CASP8 and FADD-like apoptosis regulator
Synonyms Cash, c-Flip, Flip, 2310024N18Rik, Casper, A430105C05Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02382
Quality Score
Status
Chromosome 1
Chromosomal Location 58750667-58798043 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 58791840 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Lysine at position 381 (I381K)
Ref Sequence ENSEMBL: ENSMUSP00000109952 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069333] [ENSMUST00000097722] [ENSMUST00000114313]
AlphaFold O35732
Predicted Effect probably benign
Transcript: ENSMUST00000069333
AA Change: I381K

PolyPhen 2 Score 0.141 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000065107
Gene: ENSMUSG00000026031
AA Change: I381K

DomainStartEndE-ValueType
DED 6 78 8.94e-22 SMART
DED 96 175 4.33e-29 SMART
CASc 245 480 6.05e-92 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000097722
AA Change: I384K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000095329
Gene: ENSMUSG00000026031
AA Change: I384K

DomainStartEndE-ValueType
DED 6 78 8.94e-22 SMART
DED 96 175 4.33e-29 SMART
CASc 248 483 6.05e-92 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000114313
AA Change: I381K

PolyPhen 2 Score 0.141 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000109952
Gene: ENSMUSG00000026031
AA Change: I381K

DomainStartEndE-ValueType
DED 6 78 8.94e-22 SMART
DED 96 175 4.33e-29 SMART
CASc 245 480 6.05e-92 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123032
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140940
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a regulator of apoptosis and is structurally similar to caspase-8. However, the encoded protein lacks caspase activity and appears to be itself cleaved into two peptides by caspase-8. Several transcript variants encoding different isoforms have been found for this gene, and partial evidence for several more variants exists. [provided by RefSeq, Feb 2011]
PHENOTYPE: Homozygous mutation of this gene results in embryonic lethality by E10.5. Mutant embryos exhibit cardiac developmental abnormalities and pooling of blood in the head and abdominal regions. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aim2 A G 1: 173,287,315 (GRCm39) probably null Het
Aoc2 T C 11: 101,217,498 (GRCm39) L527P probably damaging Het
Arhgef15 C A 11: 68,844,856 (GRCm39) R247L probably damaging Het
Armcx2 T C X: 133,706,416 (GRCm39) T406A probably benign Het
Armcx5 T C X: 134,647,577 (GRCm39) F551S probably damaging Het
Ccrl2 T C 9: 110,884,947 (GRCm39) K184E probably benign Het
Cenpe A G 3: 134,953,147 (GRCm39) I1534V probably benign Het
Crb1 T A 1: 139,165,352 (GRCm39) N924I probably damaging Het
Crebbp A G 16: 3,925,934 (GRCm39) V729A probably damaging Het
Dab2 T A 15: 6,466,468 (GRCm39) V615D possibly damaging Het
Edrf1 T C 7: 133,252,344 (GRCm39) probably benign Het
Ep400 G A 5: 110,849,594 (GRCm39) T1409I unknown Het
Gm14406 C A 2: 177,260,988 (GRCm39) probably benign Het
Kptn T A 7: 15,857,945 (GRCm39) S258T probably benign Het
Mbnl1 G T 3: 60,532,563 (GRCm39) E291* probably null Het
Mcm4 A T 16: 15,442,602 (GRCm39) L843Q probably damaging Het
Mgrn1 A G 16: 4,740,482 (GRCm39) N274D probably damaging Het
Or13a21 T A 7: 139,999,516 (GRCm39) T57S possibly damaging Het
Or8d1 G A 9: 38,766,364 (GRCm39) G2D probably benign Het
Phactr4 A T 4: 132,098,152 (GRCm39) V335E probably damaging Het
Ptgr2 T C 12: 84,360,722 (GRCm39) S331P probably damaging Het
Ranbp9 T C 13: 43,589,622 (GRCm39) probably null Het
Setd5 A G 6: 113,120,601 (GRCm39) T937A probably benign Het
Slc27a4 C T 2: 29,699,855 (GRCm39) R265C probably damaging Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Tenm3 A G 8: 48,688,511 (GRCm39) Y2359H probably damaging Het
Tnip3 T C 6: 65,591,779 (GRCm39) probably null Het
Zfc3h1 C T 10: 115,252,781 (GRCm39) Q1365* probably null Het
Other mutations in Cflar
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00516:Cflar APN 1 58,771,469 (GRCm39) missense probably benign 0.42
IGL00959:Cflar APN 1 58,768,321 (GRCm39) critical splice donor site probably null
IGL02045:Cflar APN 1 58,791,903 (GRCm39) missense probably benign 0.25
IGL02200:Cflar APN 1 58,791,828 (GRCm39) missense probably damaging 1.00
IGL03032:Cflar APN 1 58,780,179 (GRCm39) missense probably damaging 1.00
Channel_islands UTSW 1 58,793,010 (GRCm39) missense probably benign 0.00
IGL02988:Cflar UTSW 1 58,780,190 (GRCm39) missense possibly damaging 0.58
R1936:Cflar UTSW 1 58,791,784 (GRCm39) nonsense probably null
R2259:Cflar UTSW 1 58,768,280 (GRCm39) missense probably benign 0.16
R2269:Cflar UTSW 1 58,780,206 (GRCm39) critical splice donor site probably null
R3816:Cflar UTSW 1 58,791,582 (GRCm39) missense probably benign 0.24
R3824:Cflar UTSW 1 58,774,856 (GRCm39) missense probably benign 0.00
R4232:Cflar UTSW 1 58,780,152 (GRCm39) missense possibly damaging 0.92
R4644:Cflar UTSW 1 58,770,426 (GRCm39) missense probably damaging 1.00
R4749:Cflar UTSW 1 58,779,431 (GRCm39) missense possibly damaging 0.62
R4765:Cflar UTSW 1 58,771,480 (GRCm39) missense probably damaging 0.98
R4785:Cflar UTSW 1 58,791,726 (GRCm39) missense probably benign 0.34
R5315:Cflar UTSW 1 58,792,961 (GRCm39) missense probably benign 0.34
R5418:Cflar UTSW 1 58,791,810 (GRCm39) missense possibly damaging 0.54
R5509:Cflar UTSW 1 58,791,551 (GRCm39) missense probably benign 0.02
R5858:Cflar UTSW 1 58,793,010 (GRCm39) missense probably benign 0.00
R5899:Cflar UTSW 1 58,791,927 (GRCm39) missense probably benign 0.36
R6048:Cflar UTSW 1 58,780,202 (GRCm39) missense probably benign 0.02
R7065:Cflar UTSW 1 58,770,368 (GRCm39) missense probably damaging 1.00
R7144:Cflar UTSW 1 58,793,007 (GRCm39) missense
R7206:Cflar UTSW 1 58,780,150 (GRCm39) missense
R7384:Cflar UTSW 1 58,791,735 (GRCm39) missense
R7453:Cflar UTSW 1 58,792,956 (GRCm39) missense
R7467:Cflar UTSW 1 58,765,597 (GRCm39) start codon destroyed probably null
R7694:Cflar UTSW 1 58,791,966 (GRCm39) missense
R7808:Cflar UTSW 1 58,750,740 (GRCm39) start gained probably benign
R7890:Cflar UTSW 1 58,791,915 (GRCm39) missense
R8073:Cflar UTSW 1 58,791,981 (GRCm39) missense
R9506:Cflar UTSW 1 58,791,975 (GRCm39) missense
Z1176:Cflar UTSW 1 58,779,472 (GRCm39) critical splice donor site probably null
Z1176:Cflar UTSW 1 58,770,388 (GRCm39) missense
Posted On 2015-04-16