Incidental Mutation 'R8234:Casd1'
ID 637263
Institutional Source Beutler Lab
Gene Symbol Casd1
Ensembl Gene ENSMUSG00000015189
Gene Name CAS1 domain containing 1
Synonyms Cast1
MMRRC Submission 067666-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.298) question?
Stock # R8234 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 4600911-4643355 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 4601209 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 14 (N14S)
Ref Sequence ENSEMBL: ENSMUSP00000015333 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015333] [ENSMUST00000153963] [ENSMUST00000181734]
AlphaFold Q7TN73
Predicted Effect probably damaging
Transcript: ENSMUST00000015333
AA Change: N14S

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000015333
Gene: ENSMUSG00000015189
AA Change: N14S

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
SMART Domains Protein: ENSMUSP00000115427
Gene: ENSMUSG00000015189
AA Change: N2S

DomainStartEndE-ValueType
signal peptide 1 30 N/A INTRINSIC
Pfam:PC-Esterase 60 113 1.5e-13 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000153963
AA Change: N14S
SMART Domains Protein: ENSMUSP00000145445
Gene: ENSMUSG00000015189
AA Change: N14S

DomainStartEndE-ValueType
transmembrane domain 21 40 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000181734
AA Change: N14S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000137822
Gene: ENSMUSG00000015189
AA Change: N14S

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.5%
  • 20x: 98.8%
Validation Efficiency 100% (49/49)
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd4 T A 14: 54,499,133 (GRCm39) M38K probably benign Het
Ackr1 T A 1: 173,159,582 (GRCm39) R312S probably benign Het
Akap9 T C 5: 4,094,845 (GRCm39) V2213A probably benign Het
Alox5 T A 6: 116,390,835 (GRCm39) R439W probably damaging Het
Atrn A T 2: 130,864,920 (GRCm39) probably null Het
Cry2 T C 2: 92,242,974 (GRCm39) S542G probably benign Het
Cyb5rl A G 4: 106,925,935 (GRCm39) Y39C probably damaging Het
Dmpk A T 7: 18,822,048 (GRCm39) K335N probably benign Het
Dnai1 A G 4: 41,625,221 (GRCm39) D395G probably benign Het
Dock4 C T 12: 40,884,837 (GRCm39) probably null Het
Eif1ad5 A T 12: 87,940,508 (GRCm39) I71L noncoding transcript Het
Fmo4 T C 1: 162,632,757 (GRCm39) D198G probably damaging Het
Foxc2 G A 8: 121,844,777 (GRCm39) R475Q probably damaging Het
Gipr C A 7: 18,898,533 (GRCm39) G37V unknown Het
Gpat3 T C 5: 101,005,076 (GRCm39) probably null Het
Hcn4 A G 9: 58,751,433 (GRCm39) D353G unknown Het
Hectd4 T A 5: 121,477,607 (GRCm39) N2843K possibly damaging Het
Hmcn1 C T 1: 150,469,761 (GRCm39) V4973M possibly damaging Het
Il20rb C T 9: 100,341,263 (GRCm39) S281N probably benign Het
Kcnh4 A T 11: 100,643,093 (GRCm39) N391K possibly damaging Het
Kitl A G 10: 99,887,708 (GRCm39) T6A probably damaging Het
Krt36 A G 11: 99,995,027 (GRCm39) Y182H probably damaging Het
Lrp1b T G 2: 41,202,668 (GRCm39) I1262L Het
Mtf1 A G 4: 124,738,039 (GRCm39) E644G probably benign Het
Mtx2 A G 2: 74,699,706 (GRCm39) Y159C probably damaging Het
Nags C T 11: 102,039,824 (GRCm39) S504F probably damaging Het
Ncam1 A T 9: 49,456,523 (GRCm39) F475L probably damaging Het
Nipal2 G T 15: 34,600,178 (GRCm39) T213N possibly damaging Het
Or52m1 T A 7: 102,289,678 (GRCm39) L75Q probably damaging Het
Or8h8 A G 2: 86,753,313 (GRCm39) S188P probably damaging Het
Pkm T C 9: 59,577,882 (GRCm39) V233A possibly damaging Het
Pros1 T A 16: 62,748,540 (GRCm39) I671N possibly damaging Het
Rasd1 T C 11: 59,855,118 (GRCm39) I121V probably damaging Het
Relch T C 1: 105,681,235 (GRCm39) S1180P possibly damaging Het
Samhd1 A G 2: 156,958,270 (GRCm39) probably null Het
Serpinb9f A T 13: 33,509,898 (GRCm39) Y30F probably benign Het
Slc5a10 T C 11: 61,564,107 (GRCm39) I543V probably benign Het
Stat5a A G 11: 100,770,129 (GRCm39) I469V possibly damaging Het
Sugct T C 13: 17,032,459 (GRCm39) E431G probably benign Het
Tecr C A 8: 84,299,880 (GRCm39) R133L possibly damaging Het
Tiparp A G 3: 65,439,002 (GRCm39) N106S probably benign Het
Triml1 T C 8: 43,594,285 (GRCm39) S49G probably benign Het
Trpm3 T A 19: 22,692,640 (GRCm39) S244T possibly damaging Het
Ttn T C 2: 76,553,324 (GRCm39) D31055G probably damaging Het
Vcp A T 4: 42,985,242 (GRCm39) I369N probably damaging Het
Vmn2r110 A C 17: 20,804,691 (GRCm39) N76K probably benign Het
Vmn2r12 T C 5: 109,234,074 (GRCm39) T713A probably benign Het
Vmn2r17 A T 5: 109,601,235 (GRCm39) K844N 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
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
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
Predicted Primers PCR Primer
(F):5'- CGCTATTAAGGCAGGAGGC -3'
(R):5'- AACCGTTGGGCCCTGAAGT -3'

Sequencing Primer
(F):5'- GCAGGAGGCTACCAGGG -3'
(R):5'- TTGGGCCCTGAAGTGGCAG -3'
Posted On 2020-07-13