Incidental Mutation 'IGL00959:Cflar'
ID 26720
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 # IGL00959
Quality Score
Status
Chromosome 1
Chromosomal Location 58750667-58798043 bp(+) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) G to A at 58768321 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000109952 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069333] [ENSMUST00000069333] [ENSMUST00000097722] [ENSMUST00000097722] [ENSMUST00000114309] [ENSMUST00000114309] [ENSMUST00000114313] [ENSMUST00000114313]
AlphaFold O35732
Predicted Effect probably null
Transcript: ENSMUST00000069333
SMART Domains Protein: ENSMUSP00000065107
Gene: ENSMUSG00000026031

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 null
Transcript: ENSMUST00000069333
SMART Domains Protein: ENSMUSP00000065107
Gene: ENSMUSG00000026031

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 null
Transcript: ENSMUST00000097722
SMART Domains Protein: ENSMUSP00000095329
Gene: ENSMUSG00000026031

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 null
Transcript: ENSMUST00000097722
SMART Domains Protein: ENSMUSP00000095329
Gene: ENSMUSG00000026031

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 null
Transcript: ENSMUST00000114309
SMART Domains Protein: ENSMUSP00000109948
Gene: ENSMUSG00000026031

DomainStartEndE-ValueType
DED 6 78 8.94e-22 SMART
DED 96 175 4.33e-29 SMART
Predicted Effect probably null
Transcript: ENSMUST00000114309
SMART Domains Protein: ENSMUSP00000109948
Gene: ENSMUSG00000026031

DomainStartEndE-ValueType
DED 6 78 8.94e-22 SMART
DED 96 175 4.33e-29 SMART
Predicted Effect probably null
Transcript: ENSMUST00000114313
SMART Domains Protein: ENSMUSP00000109952
Gene: ENSMUSG00000026031

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 null
Transcript: ENSMUST00000114313
SMART Domains Protein: ENSMUSP00000109952
Gene: ENSMUSG00000026031

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000164900
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alox12b A T 11: 69,057,069 (GRCm39) H430L probably damaging Het
Aox4 G T 1: 58,278,333 (GRCm39) V443F probably damaging Het
Bmpr2 A T 1: 59,854,474 (GRCm39) I108F possibly damaging Het
Chchd3 A G 6: 32,945,188 (GRCm39) V106A probably benign Het
Chl1 G T 6: 103,686,211 (GRCm39) probably null Het
Clvs2 C T 10: 33,404,459 (GRCm39) M252I probably benign Het
Cntnap5a T A 1: 116,112,057 (GRCm39) L449Q probably benign Het
Col6a2 T A 10: 76,450,368 (GRCm39) I188F probably damaging Het
Cyp2c55 A G 19: 39,026,587 (GRCm39) D398G probably benign Het
Dennd1b T C 1: 139,071,626 (GRCm39) probably benign Het
Dop1a T A 9: 86,369,484 (GRCm39) Y106N probably damaging Het
Dpy19l1 A T 9: 24,334,493 (GRCm39) probably null Het
Extl3 C T 14: 65,314,361 (GRCm39) V274I probably benign Het
Fras1 G A 5: 96,929,140 (GRCm39) R3848H probably damaging Het
Gm11437 A C 11: 84,039,448 (GRCm39) probably benign Het
Gss T A 2: 155,423,871 (GRCm39) D2V probably damaging Het
Hnrnpm C A 17: 33,868,876 (GRCm39) R517L probably damaging Het
Ilvbl G A 10: 78,419,739 (GRCm39) D548N probably damaging Het
Jmjd6 A T 11: 116,733,202 (GRCm39) D115E possibly damaging Het
Kidins220 T A 12: 25,101,132 (GRCm39) S1110R possibly damaging Het
Kmt2c T A 5: 25,481,227 (GRCm39) I4784F probably damaging Het
Mrpl52 T C 14: 54,664,494 (GRCm39) V11A possibly damaging Het
Myo3b A G 2: 70,144,636 (GRCm39) Y1036C probably damaging Het
Omp T C 7: 97,794,357 (GRCm39) D90G probably damaging Het
Or6c2b T A 10: 128,947,893 (GRCm39) M134L probably benign Het
Osmr T C 15: 6,854,086 (GRCm39) I541V probably benign Het
Ppp2r1a A T 17: 21,181,840 (GRCm39) probably benign Het
Ptpn13 T A 5: 103,665,437 (GRCm39) probably null Het
Rock2 C A 12: 17,028,056 (GRCm39) N1429K probably benign Het
Saxo4 A T 19: 10,454,887 (GRCm39) probably null Het
Slc25a20 T G 9: 108,559,198 (GRCm39) M188R possibly damaging Het
Slc28a1 T C 7: 80,818,816 (GRCm39) probably benign Het
Sult2a6 T C 7: 13,988,634 (GRCm39) Y42C probably damaging Het
Tgfb2 A G 1: 186,436,784 (GRCm39) V63A probably benign Het
Ugt2b38 A T 5: 87,559,682 (GRCm39) N403K probably damaging Het
Vmn2r29 A G 7: 7,244,855 (GRCm39) W340R probably benign Het
Wnt5a C T 14: 28,244,866 (GRCm39) T351M probably damaging Het
Other mutations in Cflar
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00516:Cflar APN 1 58,771,469 (GRCm39) missense probably benign 0.42
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
IGL02382:Cflar APN 1 58,791,840 (GRCm39) missense probably benign 0.14
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 2013-04-17