Incidental Mutation 'R1906:Casd1'
ID214364
Institutional Source Beutler Lab
Gene Symbol Casd1
Ensembl Gene ENSMUSG00000015189
Gene NameCAS1 domain containing 1
SynonymsCast1
MMRRC Submission 039925-MU
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.278) question?
Stock #R1906 (G1)
Quality Score225
Status Not validated
Chromosome6
Chromosomal Location4600839-4643355 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 4641979 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 752 (I752N)
Ref Sequence ENSEMBL: ENSMUSP00000015333 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015333]
Predicted Effect probably damaging
Transcript: ENSMUST00000015333
AA Change: I752N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000015333
Gene: ENSMUSG00000015189
AA Change: I752N

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
  • 1x: 97.3%
  • 3x: 96.7%
  • 10x: 94.9%
  • 20x: 91.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass G A 6: 23,072,985 T923I probably benign Het
Abhd13 T A 8: 9,988,170 C256S probably benign Het
Adamts5 C T 16: 85,868,685 W576* probably null Het
Adnp A T 2: 168,182,367 S1003T probably benign Het
AI987944 C T 7: 41,375,126 R146Q probably benign Het
Apol6 G T 15: 77,050,860 V110F probably damaging Het
Arhgap27 A G 11: 103,332,925 F651L probably damaging Het
Atm T C 9: 53,506,568 D813G probably damaging Het
Cdr2 A G 7: 120,982,001 Y18H probably damaging Het
Cntn4 T C 6: 106,353,646 F75S probably benign Het
Col20a1 G A 2: 180,998,697 R549H probably benign Het
Col28a1 A T 6: 7,999,644 N1024K probably benign Het
Ddx58 T C 4: 40,206,054 K846R probably benign Het
Dnah10 T A 5: 124,800,984 V2654D probably damaging Het
Dnph1 A T 17: 46,496,861 I18F probably damaging Het
Dsn1 G A 2: 156,996,243 R334W probably damaging Het
Egf T A 3: 129,725,224 K325N probably benign Het
Eps15 T G 4: 109,324,201 S311A possibly damaging Het
Fmo3 G T 1: 162,966,906 D198E probably damaging Het
Folh1 C G 7: 86,742,166 probably null Het
Foxn1 A G 11: 78,371,810 probably null Het
Gm10604 T G 4: 11,979,989 D105A unknown Het
Gpx8 A G 13: 113,045,576 C108R probably damaging Het
Herc2 A T 7: 56,114,864 I1013L probably benign Het
Hyal4 T G 6: 24,756,111 N109K probably damaging Het
Il22ra1 T G 4: 135,751,233 C538W probably damaging Het
Ints13 A T 6: 146,552,370 probably null Het
Krt75 T A 15: 101,573,366 T156S possibly damaging Het
Lama2 A C 10: 27,056,527 probably null Het
Lifr G T 15: 7,188,131 V847L probably damaging Het
Lmf1 T A 17: 25,612,335 I185N probably damaging Het
Mast1 G A 8: 84,916,266 R967C probably damaging Het
Ms4a15 T C 19: 10,983,280 I94V probably benign Het
Mycbpap A T 11: 94,505,621 M131K probably benign Het
Ncor1 A T 11: 62,349,385 M920K possibly damaging Het
Neb A G 2: 52,308,526 Y437H probably damaging Het
Npy5r A T 8: 66,681,473 W223R probably damaging Het
Olfr1219 A G 2: 89,075,070 V7A possibly damaging Het
Olfr1333 G A 4: 118,830,270 H56Y probably damaging Het
Olfr248 C A 1: 174,391,164 L32M probably damaging Het
Olfr804 T G 10: 129,705,496 V206G probably benign Het
Polg T C 7: 79,460,322 K353E probably damaging Het
Proz C G 8: 13,073,686 probably null Het
Pus7 T C 5: 23,778,211 D86G probably damaging Het
Rhpn1 T C 15: 75,711,824 V386A probably benign Het
Sptbn4 A G 7: 27,391,431 probably null Het
Srp68 A T 11: 116,250,761 I424N probably damaging Het
Stard9 A G 2: 120,696,427 E1055G probably benign Het
Taf4b A G 18: 14,822,102 I571V probably benign Het
Tas2r107 T C 6: 131,659,988 M33V probably benign Het
Thap12 T C 7: 98,716,740 L705P probably damaging Het
Tom1 T C 8: 75,051,590 V100A probably damaging Het
Tox3 A G 8: 90,248,429 probably benign Het
Vmn2r82 A G 10: 79,396,510 N781S probably damaging Het
Vwa5b1 A T 4: 138,600,236 V343E possibly damaging Het
Zbbx A G 3: 75,071,740 Y467H probably damaging Het
Zbtb46 G A 2: 181,423,839 R173W probably damaging Het
Zfp112 A G 7: 24,122,295 D20G probably benign Het
Zfp777 A C 6: 48,042,061 M313R probably damaging 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
R0729:Casd1 UTSW 6 4619753 splice site probably benign
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
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
R7657:Casd1 UTSW 6 4619773 missense probably benign 0.00
R7983:Casd1 UTSW 6 4624472 nonsense probably null
R8033:Casd1 UTSW 6 4619773 missense probably benign 0.00
R8234:Casd1 UTSW 6 4601209 missense probably damaging 1.00
X0021:Casd1 UTSW 6 4641935 missense probably damaging 1.00
Z1177:Casd1 UTSW 6 4631531 missense possibly damaging 0.72
Predicted Primers PCR Primer
(F):5'- TGCTCACAAGTTTAAGCTGGG -3'
(R):5'- GGCAGATGCAAAGTAAGCCC -3'

Sequencing Primer
(F):5'- GCTGGGAAACGTTCAGACTTACTC -3'
(R):5'- AGTAAGCCCGAAGAGTTTGTTG -3'
Posted On2014-07-14