Incidental Mutation 'IGL02470:Ccdc148'
ID294699
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccdc148
Ensembl Gene ENSMUSG00000036641
Gene Namecoiled-coil domain containing 148
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.072) question?
Stock #IGL02470
Quality Score
Status
Chromosome2
Chromosomal Location58821070-59160683 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 59001899 bp
ZygosityHeterozygous
Amino Acid Change Serine to Threonine at position 235 (S235T)
Ref Sequence ENSEMBL: ENSMUSP00000153944 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077687] [ENSMUST00000226455]
Predicted Effect possibly damaging
Transcript: ENSMUST00000077687
AA Change: S163T

PolyPhen 2 Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000076871
Gene: ENSMUSG00000036641
AA Change: S163T

DomainStartEndE-ValueType
coiled coil region 173 195 N/A INTRINSIC
coiled coil region 289 353 N/A INTRINSIC
low complexity region 369 382 N/A INTRINSIC
coiled coil region 401 438 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000226455
AA Change: S235T

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
Meta Mutation Damage Score 0.0774 question?
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610010F05Rik A T 11: 23,615,222 M255K probably damaging Het
Adcy10 A G 1: 165,567,726 Y1422C probably damaging Het
Adnp T A 2: 168,183,194 K727I probably damaging Het
Akr1c21 A T 13: 4,577,407 N167Y probably damaging Het
Arl4a T C 12: 40,036,748 probably benign Het
BB014433 A T 8: 15,042,803 F17I unknown Het
Best1 T C 19: 9,992,976 S91G probably benign Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Dcc A T 18: 71,955,082 probably benign Het
Dnajc13 G A 9: 104,175,747 T1672I probably benign Het
Elf3 A T 1: 135,255,012 F325Y probably damaging Het
Enpp2 A G 15: 54,839,460 L880P probably damaging Het
Fndc3b A G 3: 27,461,720 Y646H probably damaging Het
Fzd6 A T 15: 39,036,557 probably benign Het
Gnb1 T A 4: 155,527,513 probably benign Het
Mast1 C A 8: 84,921,212 G511V probably damaging Het
Mcmbp T C 7: 128,704,621 I424M possibly damaging Het
Mobp A G 9: 120,168,006 T68A probably benign Het
Myh11 T C 16: 14,218,046 E1006G probably damaging Het
Ncstn A G 1: 172,082,599 probably null Het
Olfr1089 A T 2: 86,733,585 V9E probably damaging Het
Olfr340 A G 2: 36,452,597 D4G probably benign Het
Phip A T 9: 82,890,454 V1075D possibly damaging Het
Serpinb1a C T 13: 32,850,393 S5N probably damaging Het
Slc15a3 A G 19: 10,853,170 N295S probably benign Het
Trmt13 A C 3: 116,590,228 probably null Het
Trp63 A C 16: 25,820,384 probably benign Het
Zfp518a G A 19: 40,914,617 G997R probably damaging Het
Other mutations in Ccdc148
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01362:Ccdc148 APN 2 58829799 missense probably benign 0.00
IGL02056:Ccdc148 APN 2 59004069 splice site probably benign
PIT4585001:Ccdc148 UTSW 2 58982976 missense probably benign 0.01
R0068:Ccdc148 UTSW 2 58827617 missense probably benign
R0068:Ccdc148 UTSW 2 58827617 missense probably benign
R0348:Ccdc148 UTSW 2 59004072 splice site probably null
R1464:Ccdc148 UTSW 2 58906362 nonsense probably null
R1464:Ccdc148 UTSW 2 58934443 missense probably damaging 1.00
R1464:Ccdc148 UTSW 2 58906362 nonsense probably null
R1464:Ccdc148 UTSW 2 58934443 missense probably damaging 1.00
R1675:Ccdc148 UTSW 2 58980554 missense probably damaging 0.96
R1677:Ccdc148 UTSW 2 59002164 missense probably damaging 1.00
R1832:Ccdc148 UTSW 2 59001899 missense probably damaging 0.96
R1918:Ccdc148 UTSW 2 58982899 missense probably damaging 1.00
R2114:Ccdc148 UTSW 2 59002116 missense probably damaging 1.00
R2115:Ccdc148 UTSW 2 59002116 missense probably damaging 1.00
R4657:Ccdc148 UTSW 2 59001888 missense probably benign 0.04
R4921:Ccdc148 UTSW 2 58829802 missense probably damaging 1.00
R5022:Ccdc148 UTSW 2 58827632 missense probably damaging 1.00
R5809:Ccdc148 UTSW 2 58823645 missense probably damaging 1.00
R6164:Ccdc148 UTSW 2 58823633 missense probably damaging 1.00
R6952:Ccdc148 UTSW 2 58823645 missense probably damaging 1.00
R6987:Ccdc148 UTSW 2 58982914 missense probably damaging 1.00
R7121:Ccdc148 UTSW 2 58827567 missense probably damaging 1.00
R7452:Ccdc148 UTSW 2 58827584 missense probably damaging 1.00
R7493:Ccdc148 UTSW 2 59009148 missense probably damaging 1.00
R7574:Ccdc148 UTSW 2 58823633 missense probably damaging 1.00
R7666:Ccdc148 UTSW 2 58934500 missense probably damaging 0.99
R7763:Ccdc148 UTSW 2 58823636 missense probably benign
R8045:Ccdc148 UTSW 2 59002071 critical splice donor site probably null
X0062:Ccdc148 UTSW 2 59003448 missense probably damaging 0.98
Posted On2015-04-16