Incidental Mutation 'R2094:Casd1'
ID 231967
Institutional Source Beutler Lab
Gene Symbol Casd1
Ensembl Gene ENSMUSG00000015189
Gene Name CAS1 domain containing 1
Synonyms Cast1
MMRRC Submission 040098-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.298) question?
Stock # R2094 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 4600911-4643355 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 4608705 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 101 (Y101C)
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: Y101C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000015333
Gene: ENSMUSG00000015189
AA Change: Y101C

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 unknown
Transcript: ENSMUST00000141359
AA Change: Y89C
SMART Domains Protein: ENSMUSP00000115427
Gene: ENSMUSG00000015189
AA Change: Y89C

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 damaging
Transcript: ENSMUST00000181734
AA Change: Y101C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000137822
Gene: ENSMUSG00000015189
AA Change: Y101C

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
Meta Mutation Damage Score 0.1797 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 100% (56/56)
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A130010J15Rik A G 1: 192,857,154 (GRCm39) I169V probably benign Het
Arrdc5 A G 17: 56,604,856 (GRCm39) S144P probably benign Het
Astn1 A G 1: 158,495,179 (GRCm39) M92V probably benign Het
Atg5 A G 10: 44,195,544 (GRCm39) I189M probably damaging Het
Atmin A G 8: 117,684,277 (GRCm39) T646A probably damaging Het
Atp1a2 G A 1: 172,115,000 (GRCm39) R262W probably damaging Het
Atp6v1g2 A G 17: 35,455,785 (GRCm39) K16E probably damaging Het
Bex6 G A 16: 32,005,278 (GRCm39) E29K possibly damaging Het
Ccdc168 A C 1: 44,098,890 (GRCm39) I736S probably benign Het
Cdx1 T C 18: 61,168,984 (GRCm39) D70G possibly damaging Het
Cebpz T C 17: 79,242,983 (GRCm39) T224A probably benign Het
Cep170b T C 12: 112,702,164 (GRCm39) V319A possibly damaging Het
Chrna2 C T 14: 66,386,912 (GRCm39) R353W possibly damaging Het
Chst5 A T 8: 112,617,176 (GRCm39) V148E probably benign Het
Clhc1 T A 11: 29,507,771 (GRCm39) W162R probably benign Het
Csmd1 T A 8: 16,129,992 (GRCm39) Q1710L probably damaging Het
Ddb1 A C 19: 10,590,300 (GRCm39) M276L probably benign Het
Dot1l C T 10: 80,621,712 (GRCm39) R455C probably damaging Het
Dync2h1 A G 9: 7,148,735 (GRCm39) V903A probably benign Het
Eno1b T C 18: 48,180,542 (GRCm39) V240A possibly damaging Het
Erich1 T G 8: 14,140,527 (GRCm39) probably benign Het
Ermp1 A C 19: 29,617,328 (GRCm39) S227A probably benign Het
Etv1 C A 12: 38,885,115 (GRCm39) P143Q probably null Het
Gimap8 A T 6: 48,627,502 (GRCm39) I159F probably benign Het
Gpr4 G A 7: 18,956,503 (GRCm39) V142M possibly damaging Het
Gucy1a1 C T 3: 82,020,639 (GRCm39) C86Y probably benign Het
Ifngr2 T G 16: 91,358,667 (GRCm39) probably null Het
Insrr A T 3: 87,710,488 (GRCm39) N398I probably damaging Het
Iws1 A G 18: 32,217,719 (GRCm39) E441G probably damaging Het
Larp7-ps A G 4: 92,079,893 (GRCm39) S32P probably damaging Het
Megf10 A T 18: 57,414,785 (GRCm39) K732* probably null Het
Mprip T A 11: 59,640,334 (GRCm39) probably benign Het
Mrgprb8 T C 7: 48,038,953 (GRCm39) V208A probably benign Het
Msc G C 1: 14,825,908 (GRCm39) P22R probably benign Het
Opcml G A 9: 28,812,886 (GRCm39) E193K probably damaging Het
Or4k15b A T 14: 50,272,171 (GRCm39) S230T probably damaging Het
Oxsr1 A C 9: 119,123,560 (GRCm39) H71Q probably benign Het
Pkp2 T A 16: 16,064,831 (GRCm39) W452R probably damaging Het
Prrc2b C T 2: 32,072,582 (GRCm39) T20I probably damaging Het
Rasgrp3 T C 17: 75,810,136 (GRCm39) S279P probably damaging Het
Rtl1 T A 12: 109,557,831 (GRCm39) D1336V unknown Het
Serpina3m G T 12: 104,355,529 (GRCm39) K65N probably benign Het
Serpine2 A G 1: 79,788,411 (GRCm39) V182A probably damaging Het
Slc10a1 A G 12: 81,002,822 (GRCm39) V272A possibly damaging Het
Slc25a29 A T 12: 108,793,358 (GRCm39) N73K probably damaging Het
Slit1 G A 19: 41,594,819 (GRCm39) R1184W probably damaging Het
Srrm2 T C 17: 24,031,403 (GRCm39) probably benign Het
Stk11ip A G 1: 75,502,165 (GRCm39) probably benign Het
Tcerg1 A G 18: 42,697,210 (GRCm39) K767R possibly damaging Het
Tmem82 T C 4: 141,343,598 (GRCm39) K224R probably benign Het
Tmprss11g A G 5: 86,647,415 (GRCm39) L41S probably damaging Het
Trim42 T C 9: 97,248,150 (GRCm39) N182S probably benign Het
Ttn T C 2: 76,660,432 (GRCm39) T7430A probably benign Het
Wwp1 T C 4: 19,650,390 (GRCm39) T259A 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
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
Predicted Primers PCR Primer
(F):5'- GTGTGACTGGCTGTCTAACA -3'
(R):5'- GTAAGAGATGGCTGGGGCTG -3'

Sequencing Primer
(F):5'- CTAACAGTTTATACTGTTTTATCCt -3'
(R):5'- CTGGGCTGGGGCTGGGCT -3'
Posted On 2014-09-18