Incidental Mutation 'IGL00704:Casd1'
ID 9390
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Casd1
Ensembl Gene ENSMUSG00000015189
Gene Name CAS1 domain containing 1
Synonyms Cast1
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.298) question?
Stock # IGL00704
Quality Score
Status
Chromosome 6
Chromosomal Location 4600911-4643355 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 4607979 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000137822 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015333] [ENSMUST00000153963] [ENSMUST00000181734]
AlphaFold Q7TN73
Predicted Effect probably benign
Transcript: ENSMUST00000015333
SMART Domains Protein: ENSMUSP00000015333
Gene: ENSMUSG00000015189

DomainStartEndE-ValueType
low complexity region 22 39 N/A INTRINSIC
Pfam:PC-Esterase 71 292 6.3e-33 PFAM
Pfam:Cas1_AcylT 295 776 9.4e-220 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000141359
SMART Domains Protein: ENSMUSP00000115427
Gene: ENSMUSG00000015189

DomainStartEndE-ValueType
signal peptide 1 30 N/A INTRINSIC
Pfam:PC-Esterase 60 113 1.5e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000153963
SMART Domains Protein: ENSMUSP00000145445
Gene: ENSMUSG00000015189

DomainStartEndE-ValueType
transmembrane domain 21 40 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000181734
SMART Domains Protein: ENSMUSP00000137822
Gene: ENSMUSG00000015189

DomainStartEndE-ValueType
low complexity region 22 39 N/A INTRINSIC
Pfam:PC-Esterase 74 271 2.9e-18 PFAM
Pfam:Cas1_AcylT 272 402 3.4e-45 PFAM
Pfam:Cas1_AcylT 399 484 3.4e-37 PFAM
Pfam:Cas1_AcylT 480 527 4.4e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203342
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 14 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a A T 5: 8,736,257 (GRCm39) I217F probably benign Het
Agfg1 C T 1: 82,836,124 (GRCm39) T3I probably damaging Het
Anapc1 A T 2: 128,505,904 (GRCm39) V644E possibly damaging Het
Chd1 T C 17: 15,952,827 (GRCm39) V369A probably benign Het
Cul2 T C 18: 3,423,487 (GRCm39) V299A probably benign Het
Helz2 A G 2: 180,876,178 (GRCm39) C1439R probably damaging Het
Mfsd11 T C 11: 116,749,322 (GRCm39) F59L probably benign Het
Nlrp4e A T 7: 23,042,565 (GRCm39) D817V probably damaging Het
Phf3 C T 1: 30,843,919 (GRCm39) G1680D probably benign Het
Pip4k2a G T 2: 18,877,147 (GRCm39) T196K probably benign Het
Plxna2 T A 1: 194,433,769 (GRCm39) V606E probably damaging Het
Slc4a2 A C 5: 24,644,066 (GRCm39) I931L probably damaging Het
Stk32a T C 18: 43,394,314 (GRCm39) Y88H probably damaging Het
Uba2 T C 7: 33,858,294 (GRCm39) N54S probably damaging Het
Other mutations in Casd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00788:Casd1 APN 6 4,624,400 (GRCm39) missense probably benign 0.30
IGL01161:Casd1 APN 6 4,619,833 (GRCm39) missense possibly damaging 0.68
IGL01558:Casd1 APN 6 4,624,143 (GRCm39) missense possibly damaging 0.56
IGL02124:Casd1 APN 6 4,624,142 (GRCm39) missense probably benign 0.26
IGL02550:Casd1 APN 6 4,642,009 (GRCm39) missense probably benign 0.03
IGL02822:Casd1 APN 6 4,630,017 (GRCm39) missense probably damaging 1.00
IGL02957:Casd1 APN 6 4,634,068 (GRCm39) missense possibly damaging 0.84
IGL03113:Casd1 APN 6 4,640,951 (GRCm39) missense probably damaging 0.99
IGL03138:Casd1 UTSW 6 4,613,236 (GRCm39) missense probably damaging 1.00
R0653:Casd1 UTSW 6 4,608,075 (GRCm39) missense probably benign 0.00
R0673:Casd1 UTSW 6 4,624,440 (GRCm39) missense possibly damaging 0.68
R0729:Casd1 UTSW 6 4,619,753 (GRCm39) splice site probably benign
R0742:Casd1 UTSW 6 4,635,888 (GRCm39) critical splice donor site probably null
R0941:Casd1 UTSW 6 4,635,848 (GRCm39) missense probably damaging 1.00
R1056:Casd1 UTSW 6 4,641,967 (GRCm39) missense probably benign 0.03
R1390:Casd1 UTSW 6 4,641,859 (GRCm39) missense probably benign 0.04
R1394:Casd1 UTSW 6 4,624,117 (GRCm39) missense probably damaging 1.00
R1643:Casd1 UTSW 6 4,621,243 (GRCm39) missense probably benign 0.06
R1653:Casd1 UTSW 6 4,624,134 (GRCm39) missense probably benign 0.00
R1713:Casd1 UTSW 6 4,624,104 (GRCm39) missense probably damaging 1.00
R1861:Casd1 UTSW 6 4,640,951 (GRCm39) missense probably damaging 0.99
R1906:Casd1 UTSW 6 4,641,979 (GRCm39) missense probably damaging 1.00
R2094:Casd1 UTSW 6 4,608,705 (GRCm39) missense probably damaging 1.00
R3793:Casd1 UTSW 6 4,619,876 (GRCm39) missense possibly damaging 0.90
R3896:Casd1 UTSW 6 4,640,980 (GRCm39) missense probably damaging 1.00
R4519:Casd1 UTSW 6 4,621,102 (GRCm39) missense probably benign 0.00
R4610:Casd1 UTSW 6 4,631,165 (GRCm39) critical splice donor site probably null
R4673:Casd1 UTSW 6 4,629,975 (GRCm39) missense probably damaging 0.97
R4819:Casd1 UTSW 6 4,621,225 (GRCm39) missense probably damaging 0.99
R5920:Casd1 UTSW 6 4,641,853 (GRCm39) missense probably null 1.00
R5929:Casd1 UTSW 6 4,629,993 (GRCm39) missense probably damaging 1.00
R6130:Casd1 UTSW 6 4,641,948 (GRCm39) missense probably damaging 1.00
R6181:Casd1 UTSW 6 4,619,331 (GRCm39) missense probably damaging 1.00
R6291:Casd1 UTSW 6 4,619,834 (GRCm39) missense probably damaging 0.96
R6305:Casd1 UTSW 6 4,641,892 (GRCm39) missense probably damaging 1.00
R7147:Casd1 UTSW 6 4,624,187 (GRCm39) missense probably benign 0.07
R7150:Casd1 UTSW 6 4,624,211 (GRCm39) missense probably benign 0.01
R7657:Casd1 UTSW 6 4,619,773 (GRCm39) missense probably benign 0.00
R7983:Casd1 UTSW 6 4,624,472 (GRCm39) nonsense probably null
R8033:Casd1 UTSW 6 4,619,773 (GRCm39) missense probably benign 0.00
R8234:Casd1 UTSW 6 4,601,209 (GRCm39) missense probably damaging 1.00
R8748:Casd1 UTSW 6 4,608,634 (GRCm39) missense probably benign 0.02
R8985:Casd1 UTSW 6 4,624,399 (GRCm39) nonsense probably null
X0021:Casd1 UTSW 6 4,641,935 (GRCm39) missense probably damaging 1.00
Z1177:Casd1 UTSW 6 4,631,531 (GRCm39) missense possibly damaging 0.72
Posted On 2012-12-06