Incidental Mutation 'R0729:Casd1'
ID67378
Institutional Source Beutler Lab
Gene Symbol Casd1
Ensembl Gene ENSMUSG00000015189
Gene NameCAS1 domain containing 1
SynonymsCast1
MMRRC Submission 038910-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.201) question?
Stock #R0729 (G1)
Quality Score160
Status Validated
Chromosome6
Chromosomal Location4600839-4643355 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to C at 4619753 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000137822 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015333] [ENSMUST00000181734]
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: 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
Meta Mutation Damage Score 0.102 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.8%
  • 20x: 96.0%
Validation Efficiency 97% (74/76)
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427D14Rik C A 11: 72,159,455 A828S probably benign Het
Acsm3 T C 7: 119,783,984 probably benign Het
Adamts12 G A 15: 11,255,683 R446H possibly damaging Het
Adgrb1 A G 15: 74,548,549 N849S probably damaging Het
Ankra2 A G 13: 98,271,727 D228G probably damaging Het
Bicd1 T C 6: 149,512,914 V375A probably damaging Het
Blvrb A G 7: 27,448,130 K5E possibly damaging Het
Cacna2d2 A G 9: 107,517,257 N573D probably benign Het
Calhm2 C A 19: 47,132,917 G271V possibly damaging Het
Capn13 C T 17: 73,322,069 G581E probably damaging Het
Capzb T C 4: 139,288,977 probably benign Het
Clca4b A G 3: 144,928,350 probably benign Het
Col1a2 G A 6: 4,518,822 probably benign Het
Crx A G 7: 15,871,133 probably benign Het
Cyp2c68 T C 19: 39,739,550 probably benign Het
Dcaf8 T A 1: 172,172,654 D126E probably benign Het
Ddx31 T C 2: 28,874,174 I464T probably damaging Het
Dhx32 G A 7: 133,737,421 T155I probably benign Het
Elac2 C A 11: 64,998,523 P567T possibly damaging Het
Fat4 A G 3: 39,000,295 probably benign Het
Fh1 T G 1: 175,614,817 N156H probably damaging Het
Gm10064 T C 5: 122,697,521 noncoding transcript Het
Gm14137 A G 2: 119,175,353 E131G probably benign Het
Gpr22 T A 12: 31,709,313 K233M probably damaging Het
Gpr63 A G 4: 25,007,480 N68S probably benign Het
Gypa C T 8: 80,496,792 P66S unknown Het
Htr2a A T 14: 74,642,147 Q72L probably benign Het
Klhdc7b C T 15: 89,387,395 R827* probably null Het
Leo1 G A 9: 75,457,138 R520Q possibly damaging Het
Lrrc66 T C 5: 73,608,414 M429V probably benign Het
Lrrc74a C T 12: 86,745,579 Q225* probably null Het
Mamdc4 T A 2: 25,570,036 N68Y probably damaging Het
Map3k10 G A 7: 27,661,567 P507L probably damaging Het
Methig1 T A 15: 100,374,989 C68S probably benign Het
Metrn C T 17: 25,796,228 probably benign Het
Mmp12 C T 9: 7,358,290 T392I possibly damaging Het
Mss51 A T 14: 20,483,092 I437N probably damaging Het
Mtus2 A G 5: 148,077,287 T297A probably benign Het
Myo10 T C 15: 25,722,157 probably benign Het
Ncoa7 G A 10: 30,691,579 P319S probably benign Het
Nlrp4d A T 7: 10,377,685 probably benign Het
Obscn A G 11: 59,032,709 S6455P probably damaging Het
Olfr1447 T C 19: 12,900,895 N295S probably damaging Het
Olfr884 G T 9: 38,047,827 V202L probably benign Het
Pcdh12 A G 18: 38,282,464 I536T probably benign Het
Pex5l G T 3: 32,954,536 probably benign Het
Pla2g2e A C 4: 138,880,735 K43Q possibly damaging Het
Rasa4 T C 5: 136,102,070 probably benign Het
Rsf1 C T 7: 97,679,027 R1079W probably damaging Het
Sez6 A G 11: 77,976,585 T803A probably benign Het
Shcbp1 T A 8: 4,736,297 N602Y probably benign Het
Slc16a13 G A 11: 70,219,031 P215S probably damaging Het
Slc39a6 T C 18: 24,601,470 Q54R probably benign Het
Smg1 C A 7: 118,146,289 probably benign Het
Spg7 A G 8: 123,070,417 N110D probably damaging Het
Sptbn1 A T 11: 30,110,902 S2010T probably damaging Het
Sun1 T A 5: 139,237,864 probably benign Het
Sytl5 A G X: 9,994,497 E717G probably damaging Het
Tle1 A T 4: 72,126,442 probably benign Het
Tm9sf4 T A 2: 153,191,145 V290E probably damaging Het
Tmem63b A G 17: 45,674,134 S179P probably damaging Het
Trpm3 T A 19: 22,987,789 F1549L probably benign Het
Ubr4 A T 4: 139,485,320 Y5063F possibly damaging Het
Uroc1 T A 6: 90,336,955 Y75N probably damaging Het
Vmn2r70 T C 7: 85,565,904 T141A probably benign Het
Vps13c A G 9: 67,961,649 K3128E probably damaging Het
Wdr26 T C 1: 181,185,905 probably null Het
Wrn T A 8: 33,248,918 probably null Het
Zfp106 C T 2: 120,555,248 V13M probably damaging Het
Zfp456 G A 13: 67,366,544 H348Y probably damaging Het
Zfpm1 G A 8: 122,336,659 R819H probably benign Het
Other mutations in Casd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00704:Casd1 APN 6 4607979 splice site probably benign
IGL00788:Casd1 APN 6 4624400 missense probably benign 0.30
IGL01161:Casd1 APN 6 4619833 missense possibly damaging 0.68
IGL01558:Casd1 APN 6 4624143 missense possibly damaging 0.56
IGL02124:Casd1 APN 6 4624142 missense probably benign 0.26
IGL02550:Casd1 APN 6 4642009 missense probably benign 0.03
IGL02822:Casd1 APN 6 4630017 missense probably damaging 1.00
IGL02957:Casd1 APN 6 4634068 missense possibly damaging 0.84
IGL03113:Casd1 APN 6 4640951 missense probably damaging 0.99
IGL03138:Casd1 UTSW 6 4613236 missense probably damaging 1.00
R0653:Casd1 UTSW 6 4608075 missense probably benign 0.00
R0673:Casd1 UTSW 6 4624440 missense possibly damaging 0.68
R0742:Casd1 UTSW 6 4635888 critical splice donor site probably null
R0941:Casd1 UTSW 6 4635848 missense probably damaging 1.00
R1056:Casd1 UTSW 6 4641967 missense probably benign 0.03
R1390:Casd1 UTSW 6 4641859 missense probably benign 0.04
R1394:Casd1 UTSW 6 4624117 missense probably damaging 1.00
R1643:Casd1 UTSW 6 4621243 missense probably benign 0.06
R1653:Casd1 UTSW 6 4624134 missense probably benign 0.00
R1713:Casd1 UTSW 6 4624104 missense probably damaging 1.00
R1861:Casd1 UTSW 6 4640951 missense probably damaging 0.99
R1906:Casd1 UTSW 6 4641979 missense probably damaging 1.00
R2094:Casd1 UTSW 6 4608705 missense probably damaging 1.00
R3793:Casd1 UTSW 6 4619876 missense possibly damaging 0.90
R3896:Casd1 UTSW 6 4640980 missense probably damaging 1.00
R4519:Casd1 UTSW 6 4621102 missense probably benign 0.00
R4610:Casd1 UTSW 6 4631165 critical splice donor site probably null
R4673:Casd1 UTSW 6 4629975 missense probably damaging 0.97
R4819:Casd1 UTSW 6 4621225 missense probably damaging 0.99
R5920:Casd1 UTSW 6 4641853 missense probably null 1.00
R5929:Casd1 UTSW 6 4629993 missense probably damaging 1.00
R6130:Casd1 UTSW 6 4641948 missense probably damaging 1.00
R6181:Casd1 UTSW 6 4619331 missense probably damaging 1.00
R6291:Casd1 UTSW 6 4619834 missense probably damaging 0.96
R6305:Casd1 UTSW 6 4641892 missense probably damaging 1.00
R7147:Casd1 UTSW 6 4624187 missense probably benign 0.07
R7150:Casd1 UTSW 6 4624211 missense probably benign 0.01
X0021:Casd1 UTSW 6 4641935 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCACAGTAAGTTCCTGTCTGCACTC -3'
(R):5'- TTACAGCCATTCTGCTGCTGGG -3'

Sequencing Primer
(F):5'- GCACTCTAACAGACTGATCTTTG -3'
(R):5'- TGCAGTAATTTTGTGTCTTGAAATG -3'
Posted On2013-09-03