Incidental Mutation 'IGL02179:Ccdc73'
ID283248
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccdc73
Ensembl Gene ENSMUSG00000045106
Gene Namecoiled-coil domain containing 73
Synonyms2210415I11Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.091) question?
Stock #IGL02179
Quality Score
Status
Chromosome2
Chromosomal Location104867805-105017904 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 104907568 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 3 (D3G)
Ref Sequence ENSEMBL: ENSMUSP00000120706 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111114] [ENSMUST00000127840] [ENSMUST00000151764]
Predicted Effect probably damaging
Transcript: ENSMUST00000111114
AA Change: D3G

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000106743
Gene: ENSMUSG00000045106
AA Change: D3G

DomainStartEndE-ValueType
low complexity region 4 20 N/A INTRINSIC
Pfam:CCDC73 27 1061 N/A PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000127840
AA Change: D3G

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000115091
Gene: ENSMUSG00000045106
AA Change: D3G

DomainStartEndE-ValueType
low complexity region 4 20 N/A INTRINSIC
coiled coil region 48 134 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000151764
AA Change: D3G

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000120706
Gene: ENSMUSG00000045106
AA Change: D3G

DomainStartEndE-ValueType
low complexity region 4 20 N/A INTRINSIC
coiled coil region 48 134 N/A INTRINSIC
coiled coil region 178 381 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abl1 C A 2: 31,792,249 A385D probably damaging Het
Ace A G 11: 105,969,789 D174G probably benign Het
Aldh1l2 A G 10: 83,522,837 V98A probably benign Het
AU040320 T A 4: 126,835,612 F522L probably benign Het
Cdk14 A C 5: 5,103,845 L199V probably damaging Het
Cdk15 G T 1: 59,330,941 A381S possibly damaging Het
Cyb5a A G 18: 84,873,155 I68V probably benign Het
Dock5 G A 14: 67,806,496 probably benign Het
Fbxw24 T A 9: 109,609,905 K201* probably null Het
Gm5852 C T 3: 93,727,716 noncoding transcript Het
Gsdma3 A G 11: 98,635,271 K274E possibly damaging Het
Hoxa7 T A 6: 52,215,874 Q178L probably damaging Het
Itgae G T 11: 73,134,018 V992L probably benign Het
Klk1b26 A G 7: 44,016,312 N183D probably benign Het
Krt39 A T 11: 99,520,841 S140T probably damaging Het
Lama2 G A 10: 27,070,364 T1953I probably benign Het
Mmp1a G A 9: 7,464,273 R26Q probably benign Het
Myh7b A C 2: 155,614,491 I175L probably benign Het
Nol11 A G 11: 107,189,256 M1T probably null Het
Nrxn1 T A 17: 90,630,083 I641F probably damaging Het
Olfr1047 A T 2: 86,228,247 C241* probably null Het
Olfr1501 T C 19: 13,838,487 T229A probably benign Het
Olfr610 A C 7: 103,506,727 L73R probably damaging Het
Parn G T 16: 13,667,592 H13Q probably benign Het
Pcnx T C 12: 81,933,719 probably benign Het
Pdcd10 T C 3: 75,527,615 D60G probably damaging Het
Phka2 G A X: 160,554,380 probably null Het
Ppargc1a A T 5: 51,473,711 D525E possibly damaging Het
Rad54l2 C A 9: 106,720,390 R139L probably damaging Het
Rnf20 T C 4: 49,638,712 V178A probably benign Het
Ror2 C T 13: 53,110,728 S764N probably damaging Het
Sdccag8 C T 1: 176,878,056 H479Y probably benign Het
Taf8 T C 17: 47,502,233 T13A probably benign Het
Ttc8 T C 12: 98,964,537 L270P possibly damaging Het
Ttn G A 2: 76,887,368 Q365* probably null Het
Uchl1 A G 5: 66,676,294 Q2R probably benign Het
Ufl1 A G 4: 25,254,896 V440A probably damaging Het
Other mutations in Ccdc73
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00679:Ccdc73 APN 2 104994591 missense probably damaging 1.00
IGL01313:Ccdc73 APN 2 104907627 missense probably benign 0.00
IGL02016:Ccdc73 APN 2 104975616 missense probably benign 0.05
FR4304:Ccdc73 UTSW 2 104991840 unclassified probably benign
FR4737:Ccdc73 UTSW 2 104991840 unclassified probably benign
IGL03052:Ccdc73 UTSW 2 104951936 missense possibly damaging 0.78
R0010:Ccdc73 UTSW 2 104980987 splice site probably benign
R0040:Ccdc73 UTSW 2 104992084 missense probably damaging 1.00
R0052:Ccdc73 UTSW 2 104929570 splice site probably benign
R0360:Ccdc73 UTSW 2 104981007 missense probably damaging 1.00
R0401:Ccdc73 UTSW 2 104991289 missense probably benign 0.01
R0715:Ccdc73 UTSW 2 104973154 splice site probably benign
R0839:Ccdc73 UTSW 2 104991097 missense probably benign 0.05
R1129:Ccdc73 UTSW 2 104992190 missense possibly damaging 0.51
R1240:Ccdc73 UTSW 2 104991561 missense probably benign 0.05
R1478:Ccdc73 UTSW 2 104907610 missense possibly damaging 0.72
R1478:Ccdc73 UTSW 2 104914667 missense possibly damaging 0.93
R1695:Ccdc73 UTSW 2 104992105 missense probably damaging 1.00
R1924:Ccdc73 UTSW 2 104992292 missense probably damaging 1.00
R1950:Ccdc73 UTSW 2 104926935 missense probably benign 0.01
R1987:Ccdc73 UTSW 2 104931045 nonsense probably null
R1987:Ccdc73 UTSW 2 104999159 missense probably damaging 1.00
R2938:Ccdc73 UTSW 2 104975635 nonsense probably null
R3420:Ccdc73 UTSW 2 104951947 missense probably null 1.00
R3420:Ccdc73 UTSW 2 104951948 splice site probably null
R3422:Ccdc73 UTSW 2 104951947 missense probably null 1.00
R3422:Ccdc73 UTSW 2 104951948 splice site probably null
R3522:Ccdc73 UTSW 2 104991485 missense probably damaging 1.00
R3886:Ccdc73 UTSW 2 104991343 missense possibly damaging 0.94
R4279:Ccdc73 UTSW 2 104985010 missense possibly damaging 0.87
R4791:Ccdc73 UTSW 2 104981105 splice site probably null
R4793:Ccdc73 UTSW 2 105017782 splice site probably null
R4939:Ccdc73 UTSW 2 104992157 splice site probably null
R4950:Ccdc73 UTSW 2 104992366 missense probably benign
R5093:Ccdc73 UTSW 2 105017766 utr 3 prime probably benign
R5150:Ccdc73 UTSW 2 104992039 missense probably benign 0.00
R5381:Ccdc73 UTSW 2 104989925 missense probably damaging 1.00
R5738:Ccdc73 UTSW 2 104930986 missense possibly damaging 0.78
R6148:Ccdc73 UTSW 2 104992137 missense possibly damaging 0.58
R6269:Ccdc73 UTSW 2 104907633 missense probably damaging 1.00
R6738:Ccdc73 UTSW 2 104992088 missense probably benign 0.00
R6753:Ccdc73 UTSW 2 104991524 nonsense probably null
R7062:Ccdc73 UTSW 2 104951878 missense probably damaging 1.00
R7110:Ccdc73 UTSW 2 104973224 missense probably benign 0.21
R7320:Ccdc73 UTSW 2 104999176 missense possibly damaging 0.47
R7436:Ccdc73 UTSW 2 104951869 missense probably damaging 1.00
R7530:Ccdc73 UTSW 2 104994570 missense
R7747:Ccdc73 UTSW 2 104929556 missense probably damaging 1.00
R7952:Ccdc73 UTSW 2 104945456 critical splice donor site probably null
R8178:Ccdc73 UTSW 2 104991212 missense probably benign 0.00
Z1177:Ccdc73 UTSW 2 104992239 nonsense probably null
Posted On2015-04-16