Incidental Mutation 'IGL02957:Casd1'
ID 365167
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 # IGL02957
Quality Score
Status
Chromosome 6
Chromosomal Location 4600911-4643355 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 4634068 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 594 (Y594N)
Ref Sequence ENSEMBL: ENSMUSP00000015333 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015333]
AlphaFold Q7TN73
Predicted Effect possibly damaging
Transcript: ENSMUST00000015333
AA Change: Y594N

PolyPhen 2 Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000015333
Gene: ENSMUSG00000015189
AA Change: Y594N

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: ENSMUST00000204372
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi2 A G 1: 60,509,945 (GRCm39) D262G probably damaging Het
Abtb3 T A 10: 85,469,701 (GRCm39) M405K probably damaging Het
Abtb3 C T 10: 85,467,150 (GRCm39) probably benign Het
Ahcyl1 G T 3: 107,574,958 (GRCm39) Q462K probably damaging Het
C8b A G 4: 104,623,652 (GRCm39) T20A probably benign Het
Crtc2 C T 3: 90,169,840 (GRCm39) P412L probably damaging Het
Cyp3a44 T A 5: 145,716,472 (GRCm39) R373* probably null Het
Dnah10 A G 5: 124,840,197 (GRCm39) D1277G probably benign Het
Dnah2 A T 11: 69,339,333 (GRCm39) V3058E possibly damaging Het
Eif3l T C 15: 78,974,028 (GRCm39) L481P probably benign Het
Fbxw7 A T 3: 84,883,544 (GRCm39) T573S probably benign Het
Fcgbp C A 7: 27,791,272 (GRCm39) Y844* probably null Het
Fcrl2 C A 3: 87,169,501 (GRCm39) V13F possibly damaging Het
Gbx2 T G 1: 89,858,375 (GRCm39) S35R probably benign Het
H2-M9 A G 17: 36,953,049 (GRCm39) L86S probably benign Het
Hebp1 C T 6: 135,114,990 (GRCm39) G157D probably benign Het
Igf2bp3 C A 6: 49,064,338 (GRCm39) V560L probably benign Het
Igsf10 A G 3: 59,238,285 (GRCm39) I632T probably damaging Het
Kcnab2 A T 4: 152,520,326 (GRCm39) S5T possibly damaging Het
Kcnh5 T C 12: 75,054,439 (GRCm39) S502G probably benign Het
Lpcat2 T A 8: 93,602,212 (GRCm39) Y224* probably null Het
Mcrip2 A G 17: 26,087,499 (GRCm39) V24A probably damaging Het
Mttp T C 3: 137,814,842 (GRCm39) K493E possibly damaging Het
Myl7 A G 11: 5,847,137 (GRCm39) S139P possibly damaging Het
Npepps C T 11: 97,133,478 (GRCm39) R268H probably damaging Het
Oas1c C T 5: 120,943,478 (GRCm39) W18* probably null Het
Or10ak7 G T 4: 118,791,316 (GRCm39) T241N probably damaging Het
P4ha3 T C 7: 99,968,112 (GRCm39) probably benign Het
Pate14 G T 9: 36,549,146 (GRCm39) T38K probably benign Het
Pkd1l2 G A 8: 117,792,484 (GRCm39) T436I probably benign Het
Pkhd1l1 T A 15: 44,376,304 (GRCm39) W989R probably damaging Het
Podxl A G 6: 31,505,384 (GRCm39) probably benign Het
Pot1b T C 17: 56,007,009 (GRCm39) Y36C probably damaging Het
Ppme1 A T 7: 99,987,647 (GRCm39) I103K possibly damaging Het
Ppp1r12a T C 10: 108,034,779 (GRCm39) I108T probably damaging Het
Pramel1 A G 4: 143,124,168 (GRCm39) H281R probably benign Het
Prep T C 10: 45,002,126 (GRCm39) V427A probably benign Het
Prkce A G 17: 86,803,454 (GRCm39) D451G possibly damaging Het
Prrc2c A G 1: 162,534,104 (GRCm39) probably benign Het
Ramacl A T 13: 67,056,277 (GRCm39) probably benign Het
Rrm2 A G 12: 24,758,440 (GRCm39) N32S probably damaging Het
Sema6a A G 18: 47,382,291 (GRCm39) L752P probably damaging Het
Sik3 T A 9: 46,107,143 (GRCm39) I429N possibly damaging Het
Slc22a29 A G 19: 8,147,354 (GRCm39) L336P probably benign Het
Stk32a A T 18: 43,445,057 (GRCm39) M284L probably benign Het
Syde2 T C 3: 145,694,934 (GRCm39) probably benign Het
Tcta G A 9: 108,182,531 (GRCm39) S91F possibly damaging Het
Traf3ip2 A T 10: 39,530,406 (GRCm39) T517S probably damaging Het
Trpv3 A G 11: 73,176,698 (GRCm39) Y359C probably damaging Het
Vmn1r66 A G 7: 10,008,737 (GRCm39) S99P probably damaging Het
Vmn2r8 G A 5: 108,950,091 (GRCm39) T252M probably benign Het
Wdr27 A T 17: 15,130,372 (GRCm39) probably benign Het
Yipf1 A G 4: 107,193,347 (GRCm39) T78A probably damaging Het
Zfp735 A T 11: 73,601,755 (GRCm39) Y233F probably benign Het
Other mutations in Casd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00704:Casd1 APN 6 4,607,979 (GRCm39) splice site probably benign
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
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 2015-12-18