Incidental Mutation 'IGL00586:Casc1'
ID 5346
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Casc1
Ensembl Gene ENSMUSG00000043541
Gene Name cancer susceptibility candidate 1
Synonyms A230084G12Rik, Las1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.069) question?
Stock # IGL00586
Quality Score
Status
Chromosome 6
Chromosomal Location 145174834-145211005 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 145191576 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 269 (F269I)
Ref Sequence ENSEMBL: ENSMUSP00000144783 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060797] [ENSMUST00000111728] [ENSMUST00000204105]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000060797
AA Change: F269I

PolyPhen 2 Score 0.283 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000062279
Gene: ENSMUSG00000043541
AA Change: F269I

DomainStartEndE-ValueType
low complexity region 1 14 N/A INTRINSIC
Pfam:Casc1_N 29 229 5.5e-61 PFAM
Pfam:Casc1 241 469 3.4e-15 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000111727
Predicted Effect probably benign
Transcript: ENSMUST00000111728
AA Change: F256I

PolyPhen 2 Score 0.283 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000107357
Gene: ENSMUSG00000043541
AA Change: F256I

DomainStartEndE-ValueType
coiled coil region 1 45 N/A INTRINSIC
Pfam:Casc1 228 456 6.1e-15 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133671
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141307
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152138
Predicted Effect possibly damaging
Transcript: ENSMUST00000204105
AA Change: F269I

PolyPhen 2 Score 0.530 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000144783
Gene: ENSMUSG00000043541
AA Change: F269I

DomainStartEndE-ValueType
low complexity region 1 14 N/A INTRINSIC
Pfam:Casc1_N 29 229 3.4e-57 PFAM
Pfam:Casc1 241 469 2.3e-11 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice with disruptions of this gene display a higher incidence of lung tumors. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arl5b T C 2: 15,069,935 S76P probably benign Het
Asap3 A C 4: 136,206,568 D17A probably damaging Het
Ccdc24 C T 4: 117,872,046 R78H probably damaging Het
Crp T C 1: 172,699,001 F218L probably benign Het
Dab2 T C 15: 6,429,825 L385P probably benign Het
Dip2c C A 13: 9,610,755 T855N probably damaging Het
Ep400 A G 5: 110,739,594 V541A probably damaging Het
Gbgt1 A T 2: 28,502,195 probably null Het
Gm5771 T C 6: 41,396,115 I107T probably damaging Het
Gm6871 A T 7: 41,546,421 D297E possibly damaging Het
Gpr107 T A 2: 31,171,994 F145I probably benign Het
Itgb6 T G 2: 60,620,352 D581A probably benign Het
Lce1a1 C T 3: 92,647,163 M1I probably null Het
Lmbrd2 G A 15: 9,157,295 V207M probably damaging Het
Muc5b T A 7: 141,841,392 V45E unknown Het
Mybpc2 A G 7: 44,505,382 V977A probably damaging Het
Oas1c T C 5: 120,808,679 T29A probably benign Het
Pdzd2 G T 15: 12,365,767 probably null Het
Plk2 T C 13: 110,396,378 Y158H possibly damaging Het
Ptprq A G 10: 107,608,122 probably benign Het
Rnf17 C T 14: 56,421,082 T76I probably damaging Het
Serpinb1c T C 13: 32,883,975 K213E probably damaging Het
Sidt2 A G 9: 45,943,052 V624A possibly damaging Het
Sin3b T C 8: 72,757,000 V1005A probably benign Het
Ubr4 T C 4: 139,455,184 V358A possibly damaging Het
Wdr60 A T 12: 116,241,780 D396E probably benign Het
Zfp120 T C 2: 150,119,828 I67V possibly damaging Het
Zfp942 A T 17: 21,928,624 H341Q probably damaging Het
Other mutations in Casc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00160:Casc1 APN 6 145175290 missense probably benign 0.00
IGL01066:Casc1 APN 6 145176222 missense probably damaging 0.96
IGL01413:Casc1 APN 6 145175086 missense probably damaging 1.00
IGL02275:Casc1 APN 6 145177364 missense probably damaging 1.00
IGL02668:Casc1 APN 6 145205257 missense unknown
IGL03018:Casc1 APN 6 145183305 missense probably damaging 1.00
IGL03233:Casc1 APN 6 145181885 missense probably damaging 1.00
R0011:Casc1 UTSW 6 145179055 missense probably damaging 1.00
R0011:Casc1 UTSW 6 145179055 missense probably damaging 1.00
R0180:Casc1 UTSW 6 145183218 critical splice donor site probably benign
R0786:Casc1 UTSW 6 145181757 critical splice donor site probably null
R1916:Casc1 UTSW 6 145176200 missense probably benign 0.37
R2117:Casc1 UTSW 6 145205241 critical splice donor site probably null
R2174:Casc1 UTSW 6 145175170 missense probably damaging 1.00
R2264:Casc1 UTSW 6 145208429 utr 5 prime probably benign
R4393:Casc1 UTSW 6 145194578 missense possibly damaging 0.49
R4467:Casc1 UTSW 6 145183218 critical splice donor site probably null
R4847:Casc1 UTSW 6 145175185 missense probably damaging 1.00
R5014:Casc1 UTSW 6 145183266 missense probably damaging 1.00
R5207:Casc1 UTSW 6 145179068 missense probably damaging 1.00
R5264:Casc1 UTSW 6 145181776 missense probably benign 0.02
R5359:Casc1 UTSW 6 145196892 missense probably damaging 1.00
R5499:Casc1 UTSW 6 145177431 missense probably damaging 1.00
R6211:Casc1 UTSW 6 145200491 missense probably damaging 1.00
R6579:Casc1 UTSW 6 145179018 missense probably benign 0.19
R6939:Casc1 UTSW 6 145175219 missense possibly damaging 0.46
R7108:Casc1 UTSW 6 145185865 nonsense probably null
R7131:Casc1 UTSW 6 145177406 missense probably null 0.97
R7810:Casc1 UTSW 6 145194586 missense probably benign 0.28
R8017:Casc1 UTSW 6 145194557 missense probably damaging 1.00
R8385:Casc1 UTSW 6 145175192 missense probably damaging 1.00
R8680:Casc1 UTSW 6 145181816 missense probably benign 0.13
R8720:Casc1 UTSW 6 145205257 missense unknown
R9118:Casc1 UTSW 6 145175174 missense probably damaging 1.00
R9118:Casc1 UTSW 6 145175245 missense probably damaging 1.00
R9172:Casc1 UTSW 6 145177449 missense probably benign
R9290:Casc1 UTSW 6 145202962 missense unknown
X0063:Casc1 UTSW 6 145175271 missense probably benign 0.13
Z1176:Casc1 UTSW 6 145205293 nonsense probably null
Posted On 2012-04-20