Incidental Mutation 'IGL02673:Ccdc150'
ID303010
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccdc150
Ensembl Gene ENSMUSG00000025983
Gene Namecoiled-coil domain containing 150
Synonyms4930511H11Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.062) question?
Stock #IGL02673
Quality Score
Status
Chromosome1
Chromosomal Location54250683-54368727 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 54328990 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 592 (T592A)
Ref Sequence ENSEMBL: ENSMUSP00000027128 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027128] [ENSMUST00000160472]
Predicted Effect probably benign
Transcript: ENSMUST00000027128
AA Change: T592A

PolyPhen 2 Score 0.086 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000027128
Gene: ENSMUSG00000025983
AA Change: T592A

DomainStartEndE-ValueType
coiled coil region 160 250 N/A INTRINSIC
coiled coil region 288 314 N/A INTRINSIC
coiled coil region 418 676 N/A INTRINSIC
coiled coil region 727 952 N/A INTRINSIC
coiled coil region 985 1048 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000160472
SMART Domains Protein: ENSMUSP00000125195
Gene: ENSMUSG00000025983

DomainStartEndE-ValueType
coiled coil region 160 250 N/A INTRINSIC
coiled coil region 288 314 N/A INTRINSIC
coiled coil region 418 551 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000163072
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930012K11Rik T A 14: 70,157,607 T33S probably benign Het
Abca4 T C 3: 122,103,501 Y610H probably damaging Het
Agl A T 3: 116,781,599 C630S probably benign Het
Alkbh6 G T 7: 30,314,111 G202C probably damaging Het
Ascc3 A T 10: 50,660,673 M701L probably benign Het
Bpgm T A 6: 34,487,834 L162Q probably damaging Het
Ccdc144b A C 3: 36,046,699 probably benign Het
Chpf2 G A 5: 24,591,304 R416Q probably benign Het
Col14a1 G A 15: 55,418,782 G813E unknown Het
Col18a1 C T 10: 77,059,163 G983D probably damaging Het
Col5a1 C T 2: 27,974,715 A737V unknown Het
Cyp2a22 T G 7: 26,938,100 K157Q probably benign Het
Dhx57 A G 17: 80,267,545 V668A probably damaging Het
Eps8l1 T A 7: 4,478,732 V743E probably damaging Het
Fnbp4 C T 2: 90,763,472 T557M probably benign Het
Fzd5 C T 1: 64,735,106 E499K possibly damaging Het
Il1r2 A G 1: 40,115,163 Y230C probably damaging Het
Insrr A C 3: 87,813,061 E1002A possibly damaging Het
Kdm4a C T 4: 118,168,572 D146N probably benign Het
Kidins220 G A 12: 24,994,992 V262M probably damaging Het
Kif26b C T 1: 178,821,605 P430L probably damaging Het
Mamdc4 T C 2: 25,570,054 S62G probably benign Het
Mcu C A 10: 59,467,644 V124F probably damaging Het
Mlf1 A G 3: 67,393,947 M98V probably benign Het
Mogs T C 6: 83,118,218 V672A probably damaging Het
Ntrk3 T C 7: 78,250,764 D609G probably damaging Het
Olfr351 C T 2: 36,860,176 M57I probably benign Het
Pdlim5 T A 3: 142,352,787 E65D probably damaging Het
Peg3 T C 7: 6,710,414 N603S probably damaging Het
Pkd1 A G 17: 24,571,283 Y980C probably benign Het
Rack1 A G 11: 48,800,530 T23A probably benign Het
Rad50 A T 11: 53,688,240 I497K probably benign Het
Sin3a C A 9: 57,107,441 Q649K probably damaging Het
Sirt6 A G 10: 81,625,837 F46L probably damaging Het
Slc40a1 A T 1: 45,918,416 I136N possibly damaging Het
Sspo G A 6: 48,475,860 R2834H probably damaging Het
Sspo G T 6: 48,498,775 probably null Het
Sycp2 T A 2: 178,394,211 T228S possibly damaging Het
Uhrf2 T A 19: 30,092,807 N785K probably damaging Het
Vmn2r58 T A 7: 41,864,658 Y187F possibly damaging Het
Vmn2r80 A G 10: 79,169,484 I318M probably benign Het
Vps13c T C 9: 67,878,098 L249P probably damaging Het
Zw10 T A 9: 49,077,593 probably null Het
Other mutations in Ccdc150
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00712:Ccdc150 APN 1 54272550 splice site probably benign
IGL00819:Ccdc150 APN 1 54263573 missense probably damaging 1.00
IGL01973:Ccdc150 APN 1 54300488 splice site probably null
IGL02352:Ccdc150 APN 1 54272521 missense probably benign 0.25
IGL02359:Ccdc150 APN 1 54272521 missense probably benign 0.25
IGL02620:Ccdc150 APN 1 54263545 nonsense probably null
IGL03148:Ccdc150 APN 1 54278715 missense possibly damaging 0.68
IGL03185:Ccdc150 APN 1 54300323 missense probably damaging 1.00
IGL03014:Ccdc150 UTSW 1 54290702 missense probably damaging 0.99
R0066:Ccdc150 UTSW 1 54356691 missense probably benign
R0066:Ccdc150 UTSW 1 54356691 missense probably benign
R0217:Ccdc150 UTSW 1 54300430 missense possibly damaging 0.87
R0582:Ccdc150 UTSW 1 54329511 missense probably benign
R0687:Ccdc150 UTSW 1 54285631 splice site probably null
R0790:Ccdc150 UTSW 1 54277776 splice site probably benign
R1146:Ccdc150 UTSW 1 54364971 splice site probably benign
R1288:Ccdc150 UTSW 1 54364458 missense probably damaging 1.00
R1763:Ccdc150 UTSW 1 54354636 missense probably benign 0.42
R1855:Ccdc150 UTSW 1 54367910 intron probably benign
R1957:Ccdc150 UTSW 1 54263909 missense probably benign 0.00
R2180:Ccdc150 UTSW 1 54272547 critical splice donor site probably null
R2226:Ccdc150 UTSW 1 54364925 missense probably null 0.11
R3054:Ccdc150 UTSW 1 54288842 missense possibly damaging 0.51
R3055:Ccdc150 UTSW 1 54288842 missense possibly damaging 0.51
R3056:Ccdc150 UTSW 1 54288842 missense possibly damaging 0.51
R3409:Ccdc150 UTSW 1 54356773 missense probably benign 0.02
R3411:Ccdc150 UTSW 1 54356773 missense probably benign 0.02
R3812:Ccdc150 UTSW 1 54368310 missense probably benign 0.00
R4031:Ccdc150 UTSW 1 54278811 missense probably benign 0.31
R4356:Ccdc150 UTSW 1 54353054 missense probably damaging 0.98
R4617:Ccdc150 UTSW 1 54355754 missense probably benign 0.00
R4757:Ccdc150 UTSW 1 54278715 missense possibly damaging 0.81
R4957:Ccdc150 UTSW 1 54364868 intron probably benign
R5028:Ccdc150 UTSW 1 54263477 missense probably benign 0.01
R5512:Ccdc150 UTSW 1 54354647 missense probably damaging 0.96
R5757:Ccdc150 UTSW 1 54263620 missense probably damaging 1.00
R5943:Ccdc150 UTSW 1 54300367 missense probably benign 0.01
R5948:Ccdc150 UTSW 1 54277714 missense possibly damaging 0.79
R6033:Ccdc150 UTSW 1 54285628 critical splice donor site probably null
R6033:Ccdc150 UTSW 1 54285628 critical splice donor site probably null
R6065:Ccdc150 UTSW 1 54263599 missense possibly damaging 0.90
R6390:Ccdc150 UTSW 1 54368017 missense probably benign 0.01
R6399:Ccdc150 UTSW 1 54263957 splice site probably null
R6988:Ccdc150 UTSW 1 54355709 nonsense probably null
R7248:Ccdc150 UTSW 1 54304898 missense probably benign 0.00
R7319:Ccdc150 UTSW 1 54263337 intron probably null
R7322:Ccdc150 UTSW 1 54259966 missense probably benign 0.01
R7366:Ccdc150 UTSW 1 54300382 nonsense probably null
R7647:Ccdc150 UTSW 1 54356704 missense probably damaging 1.00
R8002:Ccdc150 UTSW 1 54272497
Posted On2015-04-16