Incidental Mutation 'R1936:Cflar'
ID 215755
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 039954-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1936 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 58750667-58798043 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 58791784 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 362 (Y362*)
Ref Sequence ENSEMBL: ENSMUSP00000109952 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069333] [ENSMUST00000097722] [ENSMUST00000114313]
AlphaFold O35732
Predicted Effect probably null
Transcript: ENSMUST00000069333
AA Change: Y362*
SMART Domains Protein: ENSMUSP00000065107
Gene: ENSMUSG00000026031
AA Change: Y362*

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
AA Change: Y365*
SMART Domains Protein: ENSMUSP00000095329
Gene: ENSMUSG00000026031
AA Change: Y365*

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: ENSMUST00000114313
AA Change: Y362*
SMART Domains Protein: ENSMUSP00000109952
Gene: ENSMUSG00000026031
AA Change: Y362*

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
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 97.0%
  • 10x: 95.7%
  • 20x: 93.5%
Validation Efficiency 99% (98/99)
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: 95 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930590J08Rik A G 6: 91,894,061 (GRCm39) Q226R possibly damaging Het
Abca13 G A 11: 9,243,595 (GRCm39) M1819I probably benign Het
Abca4 G A 3: 121,846,572 (GRCm39) V30M probably benign Het
Ablim1 T A 19: 57,204,397 (GRCm39) probably null Het
Adgrf3 A T 5: 30,407,304 (GRCm39) N207K probably benign Het
Anapc4 T A 5: 52,997,010 (GRCm39) D94E probably damaging Het
Arfgef2 A G 2: 166,705,523 (GRCm39) N918S probably benign Het
Arhgap45 A G 10: 79,866,788 (GRCm39) N1097S probably damaging Het
Atp8a2 T C 14: 60,097,719 (GRCm39) K770E probably benign Het
AU016765 G A 17: 64,826,873 (GRCm39) noncoding transcript Het
Brd10 A G 19: 29,731,077 (GRCm39) F712S possibly damaging Het
Cacna2d2 T C 9: 107,386,455 (GRCm39) F194S probably damaging Het
Cacna2d4 A G 6: 119,247,722 (GRCm39) D341G possibly damaging Het
Cdc42bpg A G 19: 6,360,339 (GRCm39) Y175C probably damaging Het
Cep170b G T 12: 112,702,172 (GRCm39) D322Y probably damaging Het
Chml A T 1: 175,514,825 (GRCm39) C365* probably null Het
Clrn3 A C 7: 135,115,753 (GRCm39) I199S possibly damaging Het
Crtam G C 9: 40,915,846 (GRCm39) P13A probably benign Het
Defb26 T A 2: 152,350,195 (GRCm39) K28N possibly damaging Het
Dennd1c G A 17: 57,380,889 (GRCm39) probably benign Het
Dgkz A T 2: 91,768,323 (GRCm39) M761K possibly damaging Het
Dnhd1 A T 7: 105,323,183 (GRCm39) M564L probably benign Het
Dusp15 A G 2: 152,787,341 (GRCm39) probably benign Het
Dync2h1 A G 9: 7,139,159 (GRCm39) probably null Het
Eapp A T 12: 54,720,513 (GRCm39) M234K probably benign Het
Epha8 T C 4: 136,667,554 (GRCm39) D309G probably benign Het
Gfi1b T C 2: 28,500,125 (GRCm39) K302R possibly damaging Het
Gimap3 A T 6: 48,742,683 (GRCm39) F82L probably damaging Het
Gm4862 T C 3: 138,834,253 (GRCm39) noncoding transcript Het
Gpatch1 A G 7: 34,994,947 (GRCm39) S440P probably damaging Het
Gpr152 A G 19: 4,192,531 (GRCm39) D24G probably damaging Het
Gpr6 T C 10: 40,947,477 (GRCm39) E35G probably benign Het
Hip1r T A 5: 124,134,134 (GRCm39) M270K probably damaging Het
Hk3 C T 13: 55,159,204 (GRCm39) V451I probably damaging Het
Itprid1 G T 6: 55,874,666 (GRCm39) L205F probably damaging Het
Jag1 C G 2: 136,925,393 (GRCm39) V1070L possibly damaging Het
Klf16 G A 10: 80,412,739 (GRCm39) A99V probably benign Het
Lama5 T C 2: 179,832,714 (GRCm39) N1646S probably benign Het
Lvrn A T 18: 47,011,387 (GRCm39) Y448F probably benign Het
Mark3 A G 12: 111,584,799 (GRCm39) M132V probably damaging Het
Mast3 A G 8: 71,237,444 (GRCm39) Y577H probably damaging Het
Med24 A T 11: 98,609,642 (GRCm39) probably null Het
Mif G T 10: 75,695,681 (GRCm39) H41N possibly damaging Het
Myo18b T C 5: 112,908,222 (GRCm39) N2017S probably benign Het
Neurl4 C T 11: 69,797,959 (GRCm39) R740C probably damaging Het
Nlgn1 G T 3: 26,385,939 (GRCm39) probably benign Het
Or10ad1c T A 15: 98,085,462 (GRCm39) H72L probably benign Het
Or2ak6 T A 11: 58,593,172 (GRCm39) L215Q probably damaging Het
Or5t15 A G 2: 86,681,745 (GRCm39) M99T probably benign Het
Or8b12i A G 9: 20,082,477 (GRCm39) L130P probably damaging Het
Paip1 T A 13: 119,593,550 (GRCm39) M463K probably damaging Het
Parp3 T A 9: 106,351,931 (GRCm39) Y147F probably damaging Het
Pgrmc2 C A 3: 41,037,473 (GRCm39) probably benign Het
Phldb3 G A 7: 24,316,832 (GRCm39) A278T probably benign Het
Plxnb1 T C 9: 108,924,715 (GRCm39) probably null Het
Pphln1 A G 15: 93,386,868 (GRCm39) D234G possibly damaging Het
Prdm2 T C 4: 142,861,032 (GRCm39) S753G probably benign Het
Prss32 A G 17: 24,075,024 (GRCm39) R125G possibly damaging Het
Psg22 A T 7: 18,453,635 (GRCm39) N149I probably damaging Het
Psmd11 T C 11: 80,319,570 (GRCm39) L20P probably damaging Het
Recql5 T C 11: 115,788,017 (GRCm39) Y434C probably benign Het
Rexo1 A G 10: 80,386,303 (GRCm39) S252P probably benign Het
Sdr9c7 A G 10: 127,739,503 (GRCm39) K206R probably benign Het
Slc17a8 T C 10: 89,413,777 (GRCm39) M484V probably benign Het
Slc1a2 A G 2: 102,607,950 (GRCm39) N530D probably benign Het
Slc25a14 G A X: 47,740,840 (GRCm39) V210I probably benign Het
Slc25a24 A T 3: 109,043,581 (GRCm39) E79D probably damaging Het
Smchd1 T C 17: 71,770,786 (GRCm39) Y132C probably damaging Het
Sorcs1 T C 19: 50,221,082 (GRCm39) D545G probably damaging Het
Sorcs2 A G 5: 36,228,731 (GRCm39) S104P possibly damaging Het
Speg C T 1: 75,408,052 (GRCm39) T3249I possibly damaging Het
Spry4 A G 18: 38,723,142 (GRCm39) I207T possibly damaging Het
Srsf6 C T 2: 162,776,403 (GRCm39) probably benign Het
Tdrd6 A G 17: 43,937,358 (GRCm39) L1230P probably damaging Het
Tesk2 A G 4: 116,599,021 (GRCm39) Y43C probably benign Het
Tex101 A G 7: 24,367,650 (GRCm39) V234A probably benign Het
Tmem161b T A 13: 84,441,585 (GRCm39) L210Q probably damaging Het
Tmprss11f T A 5: 86,692,723 (GRCm39) Q67L probably benign Het
Tnfrsf23 A G 7: 143,222,291 (GRCm39) F174L probably benign Het
Tnrc6c A G 11: 117,646,849 (GRCm39) D1450G possibly damaging Het
Trdmt1 A G 2: 13,516,420 (GRCm39) L386P probably damaging Het
Trim25 A T 11: 88,895,576 (GRCm39) T206S probably benign Het
Trit1 T C 4: 122,948,033 (GRCm39) I451T probably benign Het
Trpc4 T A 3: 54,187,311 (GRCm39) M421K probably damaging Het
Ttc34 G A 4: 154,950,139 (GRCm39) A1031T possibly damaging Het
Ttn A C 2: 76,715,834 (GRCm39) probably benign Het
Ttn T A 2: 76,577,522 (GRCm39) D24457V probably damaging Het
Ubiad1 A G 4: 148,528,468 (GRCm39) L147P probably damaging Het
Vmn2r94 G A 17: 18,464,554 (GRCm39) R579* probably null Het
Vps72 T A 3: 95,029,851 (GRCm39) V290D probably benign Het
Wipf2 C T 11: 98,783,236 (GRCm39) R221* probably null Het
Zfp26 A G 9: 20,348,849 (GRCm39) Y572H probably benign Het
Zfp292 A G 4: 34,807,452 (GRCm39) V1864A probably benign Het
Zfp952 A T 17: 33,222,643 (GRCm39) H374L possibly damaging Het
Zfy2 C A Y: 2,121,496 (GRCm39) M132I probably benign 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
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
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2014-07-14