Incidental Mutation 'R5509:Cflar'
ID 431052
Institutional Source Beutler Lab
Gene Symbol Cflar
Ensembl Gene ENSMUSG00000026031
Gene Name CASP8 and FADD-like apoptosis regulator
Synonyms Cash, c-Flip, Flip, 2310024N18Rik, Casper, A430105C05Rik
MMRRC Submission 043070-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5509 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 58750667-58798043 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 58791551 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 285 (F285L)
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: F285L

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000065107
Gene: ENSMUSG00000026031
AA Change: F285L

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: F288L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000095329
Gene: ENSMUSG00000026031
AA Change: F288L

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: F285L

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000109952
Gene: ENSMUSG00000026031
AA Change: F285L

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
  • 1x: 98.6%
  • 3x: 97.4%
  • 10x: 95.5%
  • 20x: 91.6%
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc10 G C 17: 46,635,185 (GRCm39) Q273E probably benign Het
Acly C T 11: 100,405,805 (GRCm39) R329Q probably damaging Het
Acsm2 T C 7: 119,172,840 (GRCm39) S152P probably damaging Het
Adamtsl4 A T 3: 95,588,667 (GRCm39) I515N probably benign Het
Ank3 G A 10: 69,838,395 (GRCm39) R1566K possibly damaging Het
Atp9a T C 2: 168,481,857 (GRCm39) D879G probably damaging Het
Bmp8b G A 4: 123,008,369 (GRCm39) D112N possibly damaging Het
Camk2d T C 3: 126,633,965 (GRCm39) W496R probably damaging Het
Ccdc192 G A 18: 57,671,156 (GRCm39) probably null Het
Cox16 T C 12: 81,519,032 (GRCm39) T176A probably benign Het
Cux1 G T 5: 136,304,171 (GRCm39) A1214D probably benign Het
Cyb5d1 C A 11: 69,284,561 (GRCm39) probably null Het
Dennd6b G A 15: 89,069,225 (GRCm39) P575S probably damaging Het
Fbxl2 A T 9: 113,814,415 (GRCm39) probably null Het
Gfpt2 T C 11: 49,717,973 (GRCm39) F483L possibly damaging Het
Glrx3 T C 7: 137,046,751 (GRCm39) C48R probably damaging Het
Invs G A 4: 48,396,337 (GRCm39) V281M probably damaging Het
Kif13a G A 13: 46,905,591 (GRCm39) A784V probably benign Het
Kmt2d T C 15: 98,737,557 (GRCm39) probably benign Het
Lmod2 A G 6: 24,603,888 (GRCm39) T288A probably damaging Het
Lrrc37a T C 11: 103,391,361 (GRCm39) K1355E probably benign Het
Magi3 A T 3: 103,922,818 (GRCm39) S1300T probably benign Het
Mdm2 A C 10: 117,526,517 (GRCm39) D307E probably damaging Het
Mllt6 G A 11: 97,560,326 (GRCm39) S210N possibly damaging Het
Mroh4 T C 15: 74,478,003 (GRCm39) Y901C probably benign Het
Mtmr14 G T 6: 113,230,768 (GRCm39) probably null Het
Mug2 A T 6: 122,061,340 (GRCm39) Q1420L possibly damaging Het
Net1 T C 13: 3,934,320 (GRCm39) Q459R probably benign Het
Nle1 T C 11: 82,794,008 (GRCm39) R343G possibly damaging Het
Npat C A 9: 53,481,542 (GRCm39) N1083K probably benign Het
Nrp1 G A 8: 129,152,396 (GRCm39) G202R possibly damaging Het
Nsun4 C T 4: 115,908,974 (GRCm39) V529I possibly damaging Het
Or4b1d T A 2: 89,969,236 (GRCm39) L82F probably damaging Het
Or4z4 T A 19: 12,076,341 (GRCm39) I221F possibly damaging Het
Or5b117 A T 19: 13,431,332 (GRCm39) L183Q probably damaging Het
Or8g21 T C 9: 38,905,924 (GRCm39) D269G probably benign Het
Podxl A T 6: 31,503,548 (GRCm39) N264K probably benign Het
Ptprm C T 17: 66,996,353 (GRCm39) A1245T probably damaging Het
Rdh12 T A 12: 79,257,558 (GRCm39) probably null Het
Ryr2 T A 13: 11,760,487 (GRCm39) Y1532F probably damaging Het
Senp2 T C 16: 21,859,272 (GRCm39) F441S probably damaging Het
Snap23 C A 2: 120,425,346 (GRCm39) P111T probably benign Het
Sox2 A G 3: 34,704,938 (GRCm39) D125G probably damaging Het
Syne2 T C 12: 75,968,018 (GRCm39) W923R probably damaging Het
Tbc1d2b T C 9: 90,101,022 (GRCm39) E656G probably damaging Het
Tbcd A G 11: 121,492,838 (GRCm39) T892A probably benign Het
Tg A G 15: 66,699,142 (GRCm39) I24V probably benign Het
Trpm3 A T 19: 22,964,622 (GRCm39) K1372N probably damaging Het
Ubc A T 5: 125,464,339 (GRCm39) N329K probably benign Het
Vmn2r106 T A 17: 20,498,684 (GRCm39) H409L probably damaging Het
Wdfy3 T A 5: 102,009,314 (GRCm39) N2751Y possibly damaging Het
Zfp518a T A 19: 40,903,845 (GRCm39) I1258K possibly damaging Het
Zfp91 T C 19: 12,756,451 (GRCm39) E131G probably damaging Het
Zfyve26 T A 12: 79,293,295 (GRCm39) R2027W probably damaging 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
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
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
Predicted Primers PCR Primer
(F):5'- TGCTTCTACTTTCAGAGGTCTCAG -3'
(R):5'- TGGCTTCCCTCTGAGAGAAG -3'

Sequencing Primer
(F):5'- CAGAGGTCTCAGAGTATCCTTACG -3'
(R):5'- TTCCCTCTGAGAGAAGGGCAC -3'
Posted On 2016-10-05