Incidental Mutation 'IGL00819:Ccdc150'
ID 9436
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccdc150
Ensembl Gene ENSMUSG00000025983
Gene Name coiled-coil domain containing 150
Synonyms 4930511H11Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.078) question?
Stock # IGL00819
Quality Score
Status
Chromosome 1
Chromosomal Location 54250683-54368727 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 54263573 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 117 (N117K)
Ref Sequence ENSEMBL: ENSMUSP00000125195 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027128] [ENSMUST00000160472]
AlphaFold Q8CDI7
Predicted Effect probably damaging
Transcript: ENSMUST00000027128
AA Change: N117K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000027128
Gene: ENSMUSG00000025983
AA Change: N117K

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 damaging
Transcript: ENSMUST00000160472
AA Change: N117K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000125195
Gene: ENSMUSG00000025983
AA Change: N117K

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: ENSMUST00000161988
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd35 A T 3: 96,683,034 probably null Het
Apaf1 G T 10: 90,997,340 probably null Het
Ash1l T A 3: 89,007,736 V1891E possibly damaging Het
Atm A G 9: 53,518,531 S402P probably damaging Het
Camk2g C T 14: 20,737,330 G500S probably damaging Het
Ccl7 A G 11: 82,046,575 N45S probably benign Het
Dnah2 A T 11: 69,473,350 probably null Het
Efcab6 A G 15: 84,018,642 I169T probably benign Het
Exo1 T C 1: 175,896,237 V383A probably benign Het
Fbxl2 A G 9: 113,983,979 probably benign Het
Fryl A T 5: 73,148,108 V106D possibly damaging Het
Fsip1 C A 2: 118,249,912 R121L possibly damaging Het
Igsf9 T C 1: 172,496,636 S789P probably benign Het
Klf7 T C 1: 64,042,317 D284G possibly damaging Het
Mbtd1 A G 11: 93,931,811 probably null Het
Mef2c A T 13: 83,625,380 D125V probably damaging Het
Nectin4 T C 1: 171,384,686 L284S probably damaging Het
Numa1 G T 7: 101,992,710 G122W possibly damaging Het
Pcbd1 A C 10: 61,092,140 E27A probably benign Het
Pclo A G 5: 14,858,846 N5056S unknown Het
Pelp1 G A 11: 70,394,618 P808L unknown Het
Ppp1r12a T C 10: 108,240,821 S304P probably damaging Het
Ppp1r7 T A 1: 93,346,256 D51E probably benign Het
Rassf6 T C 5: 90,604,071 K308E probably benign Het
Rel A T 11: 23,743,029 F335I probably benign Het
Scnn1g A G 7: 121,740,437 E153G probably benign Het
Slc2a5 T C 4: 150,125,656 Y33H probably damaging Het
Slit2 G A 5: 47,989,151 E95K possibly damaging Het
Tpra1 T A 6: 88,909,336 Y65* probably null Het
Trip12 C T 1: 84,754,272 G994S probably damaging Het
Trnt1 T A 6: 106,776,222 Y195* probably null Het
Ttn A G 2: 76,743,050 I17506T probably damaging Het
Ubr4 C T 4: 139,476,282 T4761I possibly damaging Het
Vmn1r204 T A 13: 22,556,947 Y249* probably null Het
Zfp212 C T 6: 47,931,322 P412S probably damaging Het
Zhx1 A G 15: 58,054,694 V52A probably benign Het
Zpbp2 A T 11: 98,557,592 H245L probably damaging Het
Other mutations in Ccdc150
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00712:Ccdc150 APN 1 54272550 splice site probably benign
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
IGL02673:Ccdc150 APN 1 54328990 missense probably benign 0.09
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 splice site 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
R7981:Ccdc150 UTSW 1 54368392 missense probably damaging 1.00
R8002:Ccdc150 UTSW 1 54272497 missense probably damaging 0.99
R8201:Ccdc150 UTSW 1 54329487 missense probably benign 0.10
R8688:Ccdc150 UTSW 1 54367973 missense probably damaging 1.00
R8719:Ccdc150 UTSW 1 54263509 missense probably benign 0.00
R8963:Ccdc150 UTSW 1 54272482 missense probably benign 0.14
R9178:Ccdc150 UTSW 1 54272485 missense probably damaging 0.99
R9200:Ccdc150 UTSW 1 54260038 missense probably damaging 1.00
R9332:Ccdc150 UTSW 1 54277751 missense probably damaging 0.99
R9367:Ccdc150 UTSW 1 54285601 missense probably damaging 1.00
R9416:Ccdc150 UTSW 1 54278831 missense probably damaging 0.97
R9430:Ccdc150 UTSW 1 54281771 missense probably damaging 1.00
R9576:Ccdc150 UTSW 1 54368385 nonsense probably null
Posted On 2012-12-06