Incidental Mutation 'R7248:Ccdc150'
ID 563654
Institutional Source Beutler Lab
Gene Symbol Ccdc150
Ensembl Gene ENSMUSG00000025983
Gene Name coiled-coil domain containing 150
Synonyms 4930511H11Rik
MMRRC Submission 045311-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.078) question?
Stock # R7248 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 54289842-54407886 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 54344057 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 530 (T530I)
Ref Sequence ENSEMBL: ENSMUSP00000027128 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027128] [ENSMUST00000160472]
AlphaFold Q8CDI7
Predicted Effect probably benign
Transcript: ENSMUST00000027128
AA Change: T530I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000027128
Gene: ENSMUSG00000025983
AA Change: T530I

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
AA Change: T530I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000125195
Gene: ENSMUSG00000025983
AA Change: T530I

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.4%
Validation Efficiency 97% (75/77)
Allele List at MGI
Other mutations in this stock
Total: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik A G 3: 124,207,959 (GRCm39) probably null Het
Aldh16a1 A G 7: 44,795,018 (GRCm39) Y484H probably damaging Het
Arhgap26 T C 18: 39,439,907 (GRCm39) probably null Het
Atxn7l1 A G 12: 33,417,194 (GRCm39) T452A probably benign Het
Baz1a C T 12: 54,947,293 (GRCm39) E1119K probably damaging Het
Btaf1 A T 19: 36,922,714 (GRCm39) E39D possibly damaging Het
Bud13 G T 9: 46,194,413 (GRCm39) E29* probably null Het
Chd6 G A 2: 160,803,199 (GRCm39) Q2160* probably null Het
Cluap1 T A 16: 3,737,364 (GRCm39) I172N possibly damaging Het
Cnot2 T C 10: 116,334,278 (GRCm39) N329S probably benign Het
Cog4 A T 8: 111,608,834 (GRCm39) T175S unknown Het
Coq7 C A 7: 118,128,897 (GRCm39) R46L probably benign Het
D630045J12Rik A T 6: 38,145,198 (GRCm39) V1276E probably damaging Het
Dcaf15 A G 8: 84,829,394 (GRCm39) V116A possibly damaging Het
Ddr2 C T 1: 169,822,198 (GRCm39) V417I probably benign Het
Defa25 G A 8: 21,575,216 (GRCm39) C65Y probably damaging Het
Dhx38 T C 8: 110,285,559 (GRCm39) T425A probably benign Het
Diaph1 T C 18: 38,022,829 (GRCm39) T782A probably benign Het
Dnah7b T A 1: 46,181,245 (GRCm39) M1044K possibly damaging Het
Dusp16 G A 6: 134,695,940 (GRCm39) T297M probably benign Het
Esyt2 A G 12: 116,305,858 (GRCm39) N363D probably damaging Het
Fasl C T 1: 161,615,760 (GRCm39) C32Y possibly damaging Het
Flg T C 3: 93,189,041 (GRCm39) V137A probably benign Het
Gm57858 T A 3: 36,080,086 (GRCm39) T224S probably benign Het
Gpr150 G A 13: 76,204,126 (GRCm39) A273V probably benign Het
Grk5 A G 19: 60,879,045 (GRCm39) T10A probably benign Het
Hivep2 A G 10: 14,006,909 (GRCm39) K1169R possibly damaging Het
Ido2 A C 8: 25,030,657 (GRCm39) Y224* probably null Het
Ido2 A G 8: 25,038,839 (GRCm39) I149T probably damaging Het
Iqca1l C T 5: 24,749,269 (GRCm39) S743N probably benign Het
Kctd2 A G 11: 115,312,845 (GRCm39) T126A possibly damaging Het
Khdc4 T C 3: 88,600,886 (GRCm39) S228P probably damaging Het
Kif1a T C 1: 92,969,305 (GRCm39) D1090G probably benign Het
Klrb1a A T 6: 128,586,697 (GRCm39) H222Q possibly damaging Het
Kndc1 A C 7: 139,500,699 (GRCm39) H688P probably damaging Het
Lrriq1 C A 10: 103,059,611 (GRCm39) V141F possibly damaging Het
Malrd1 A G 2: 16,106,722 (GRCm39) I1845V unknown Het
Mob3c G A 4: 115,688,881 (GRCm39) R138H probably benign Het
Mre11a T A 9: 14,723,209 (GRCm39) D394E possibly damaging Het
Myh7b A T 2: 155,464,106 (GRCm39) I536F probably damaging Het
Nacad T A 11: 6,548,589 (GRCm39) K1382* probably null Het
Ncor1 T C 11: 62,275,598 (GRCm39) K128R possibly damaging Het
Or10am5 T C 7: 6,517,520 (GRCm39) N303D probably damaging Het
Ostn T A 16: 27,165,719 (GRCm39) probably null Het
Pacs1 G A 19: 5,189,003 (GRCm39) T793I probably damaging Het
Pcdhb2 T C 18: 37,429,547 (GRCm39) S507P probably damaging Het
Pde2a A G 7: 101,152,597 (GRCm39) K393E possibly damaging Het
Pfkl T A 10: 77,825,423 (GRCm39) N656Y probably damaging Het
Phf20 T A 2: 156,135,331 (GRCm39) probably null Het
Plekha6 G T 1: 133,203,586 (GRCm39) E550* probably null Het
Plxna4 A T 6: 32,139,095 (GRCm39) V1691E probably damaging Het
Rag1 A T 2: 101,472,123 (GRCm39) H1006Q probably damaging Het
Rfx4 C T 10: 84,740,919 (GRCm39) P679L probably benign Het
Ripor2 A G 13: 24,878,128 (GRCm39) H301R probably damaging Het
Rrp12 A T 19: 41,871,877 (GRCm39) I469N possibly damaging Het
Serpinb6b A G 13: 33,161,559 (GRCm39) T211A probably benign Het
Sf1 A T 19: 6,426,383 (GRCm39) H547L unknown Het
Slc29a1 T C 17: 45,903,108 (GRCm39) D9G probably damaging Het
Sptan1 T A 2: 29,892,311 (GRCm39) M1075K probably benign Het
Syngap1 A G 17: 27,176,741 (GRCm39) D474G probably damaging Het
Syt16 C T 12: 74,313,483 (GRCm39) R470C probably damaging Het
Timeless A G 10: 128,087,870 (GRCm39) T1148A probably benign Het
Tmem116 A T 5: 121,601,899 (GRCm39) probably null Het
Tmem158 A T 9: 123,089,390 (GRCm39) I74N probably damaging Het
Traf5 T A 1: 191,743,432 (GRCm39) D174V probably benign Het
Trim65 A T 11: 116,018,534 (GRCm39) I247N probably benign Het
Tsfm A T 10: 126,847,500 (GRCm39) V197E probably benign Het
Utrn A G 10: 12,604,562 (GRCm39) C539R possibly damaging Het
Vps13a A T 19: 16,655,406 (GRCm39) F1874Y probably benign Het
Wdr6 A G 9: 108,453,238 (GRCm39) M215T possibly damaging Het
Wdr75 T A 1: 45,856,560 (GRCm39) W528R probably damaging Het
Zc3h7b A G 15: 81,655,988 (GRCm39) D112G possibly damaging Het
Zc3hav1 C T 6: 38,330,911 (GRCm39) D83N probably benign Het
Zfp369 T A 13: 65,443,931 (GRCm39) V358E probably damaging Het
Zfp946 T A 17: 22,672,489 (GRCm39) C29* probably null Het
Zng1 A G 19: 24,898,505 (GRCm39) S318P probably damaging Het
Other mutations in Ccdc150
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00712:Ccdc150 APN 1 54,311,709 (GRCm39) splice site probably benign
IGL00819:Ccdc150 APN 1 54,302,732 (GRCm39) missense probably damaging 1.00
IGL01973:Ccdc150 APN 1 54,339,647 (GRCm39) splice site probably null
IGL02352:Ccdc150 APN 1 54,311,680 (GRCm39) missense probably benign 0.25
IGL02359:Ccdc150 APN 1 54,311,680 (GRCm39) missense probably benign 0.25
IGL02620:Ccdc150 APN 1 54,302,704 (GRCm39) nonsense probably null
IGL02673:Ccdc150 APN 1 54,368,149 (GRCm39) missense probably benign 0.09
IGL03148:Ccdc150 APN 1 54,317,874 (GRCm39) missense possibly damaging 0.68
IGL03185:Ccdc150 APN 1 54,339,482 (GRCm39) missense probably damaging 1.00
IGL03014:Ccdc150 UTSW 1 54,329,861 (GRCm39) missense probably damaging 0.99
R0066:Ccdc150 UTSW 1 54,395,850 (GRCm39) missense probably benign
R0066:Ccdc150 UTSW 1 54,395,850 (GRCm39) missense probably benign
R0217:Ccdc150 UTSW 1 54,339,589 (GRCm39) missense possibly damaging 0.87
R0582:Ccdc150 UTSW 1 54,368,670 (GRCm39) missense probably benign
R0687:Ccdc150 UTSW 1 54,324,790 (GRCm39) splice site probably null
R0790:Ccdc150 UTSW 1 54,316,935 (GRCm39) splice site probably benign
R1146:Ccdc150 UTSW 1 54,404,130 (GRCm39) splice site probably benign
R1288:Ccdc150 UTSW 1 54,403,617 (GRCm39) missense probably damaging 1.00
R1763:Ccdc150 UTSW 1 54,393,795 (GRCm39) missense probably benign 0.42
R1855:Ccdc150 UTSW 1 54,407,069 (GRCm39) intron probably benign
R1957:Ccdc150 UTSW 1 54,303,068 (GRCm39) missense probably benign 0.00
R2180:Ccdc150 UTSW 1 54,311,706 (GRCm39) critical splice donor site probably null
R2226:Ccdc150 UTSW 1 54,404,084 (GRCm39) missense probably null 0.11
R3054:Ccdc150 UTSW 1 54,328,001 (GRCm39) missense possibly damaging 0.51
R3055:Ccdc150 UTSW 1 54,328,001 (GRCm39) missense possibly damaging 0.51
R3056:Ccdc150 UTSW 1 54,328,001 (GRCm39) missense possibly damaging 0.51
R3409:Ccdc150 UTSW 1 54,395,932 (GRCm39) missense probably benign 0.02
R3411:Ccdc150 UTSW 1 54,395,932 (GRCm39) missense probably benign 0.02
R3812:Ccdc150 UTSW 1 54,407,469 (GRCm39) missense probably benign 0.00
R4031:Ccdc150 UTSW 1 54,317,970 (GRCm39) missense probably benign 0.31
R4356:Ccdc150 UTSW 1 54,392,213 (GRCm39) missense probably damaging 0.98
R4617:Ccdc150 UTSW 1 54,394,913 (GRCm39) missense probably benign 0.00
R4757:Ccdc150 UTSW 1 54,317,874 (GRCm39) missense possibly damaging 0.81
R4957:Ccdc150 UTSW 1 54,404,027 (GRCm39) intron probably benign
R5028:Ccdc150 UTSW 1 54,302,636 (GRCm39) missense probably benign 0.01
R5512:Ccdc150 UTSW 1 54,393,806 (GRCm39) missense probably damaging 0.96
R5757:Ccdc150 UTSW 1 54,302,779 (GRCm39) missense probably damaging 1.00
R5943:Ccdc150 UTSW 1 54,339,526 (GRCm39) missense probably benign 0.01
R5948:Ccdc150 UTSW 1 54,316,873 (GRCm39) missense possibly damaging 0.79
R6033:Ccdc150 UTSW 1 54,324,787 (GRCm39) critical splice donor site probably null
R6033:Ccdc150 UTSW 1 54,324,787 (GRCm39) critical splice donor site probably null
R6065:Ccdc150 UTSW 1 54,302,758 (GRCm39) missense possibly damaging 0.90
R6390:Ccdc150 UTSW 1 54,407,176 (GRCm39) missense probably benign 0.01
R6399:Ccdc150 UTSW 1 54,303,116 (GRCm39) splice site probably null
R6988:Ccdc150 UTSW 1 54,394,868 (GRCm39) nonsense probably null
R7319:Ccdc150 UTSW 1 54,302,496 (GRCm39) splice site probably null
R7322:Ccdc150 UTSW 1 54,299,125 (GRCm39) missense probably benign 0.01
R7366:Ccdc150 UTSW 1 54,339,541 (GRCm39) nonsense probably null
R7647:Ccdc150 UTSW 1 54,395,863 (GRCm39) missense probably damaging 1.00
R7981:Ccdc150 UTSW 1 54,407,551 (GRCm39) missense probably damaging 1.00
R8002:Ccdc150 UTSW 1 54,311,656 (GRCm39) missense probably damaging 0.99
R8201:Ccdc150 UTSW 1 54,368,646 (GRCm39) missense probably benign 0.10
R8688:Ccdc150 UTSW 1 54,407,132 (GRCm39) missense probably damaging 1.00
R8719:Ccdc150 UTSW 1 54,302,668 (GRCm39) missense probably benign 0.00
R8963:Ccdc150 UTSW 1 54,311,641 (GRCm39) missense probably benign 0.14
R9178:Ccdc150 UTSW 1 54,311,644 (GRCm39) missense probably damaging 0.99
R9200:Ccdc150 UTSW 1 54,299,197 (GRCm39) missense probably damaging 1.00
R9332:Ccdc150 UTSW 1 54,316,910 (GRCm39) missense probably damaging 0.99
R9367:Ccdc150 UTSW 1 54,324,760 (GRCm39) missense probably damaging 1.00
R9416:Ccdc150 UTSW 1 54,317,990 (GRCm39) missense probably damaging 0.97
R9430:Ccdc150 UTSW 1 54,320,930 (GRCm39) missense probably damaging 1.00
R9576:Ccdc150 UTSW 1 54,407,544 (GRCm39) nonsense probably null
R9747:Ccdc150 UTSW 1 54,299,107 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TTTGAACATTCTAAAGCTGCCAAAC -3'
(R):5'- ACCTTGGCAAGCAGCTTTTAG -3'

Sequencing Primer
(F):5'- TTCTAAAGCTGCCAAACAAGACTC -3'
(R):5'- CCTTGGCAAGCAGCTTTTAGAAATC -3'
Posted On 2019-06-26