Incidental Mutation 'IGL01313:Ccdc73'
ID 73739
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccdc73
Ensembl Gene ENSMUSG00000045106
Gene Name coiled-coil domain containing 73
Synonyms 2210415I11Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.078) question?
Stock # IGL01313
Quality Score
Status
Chromosome 2
Chromosomal Location 104716669-104830082 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 104737972 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 23 (M23L)
Ref Sequence ENSEMBL: ENSMUSP00000120706 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111114] [ENSMUST00000127840] [ENSMUST00000151764]
AlphaFold Q8CDM4
Predicted Effect probably benign
Transcript: ENSMUST00000111114
AA Change: M23L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000106743
Gene: ENSMUSG00000045106
AA Change: M23L

DomainStartEndE-ValueType
low complexity region 4 20 N/A INTRINSIC
Pfam:CCDC73 27 1061 N/A PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000127840
AA Change: M23L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000115091
Gene: ENSMUSG00000045106
AA Change: M23L

DomainStartEndE-ValueType
low complexity region 4 20 N/A INTRINSIC
coiled coil region 48 134 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000151764
AA Change: M23L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000120706
Gene: ENSMUSG00000045106
AA Change: M23L

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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m T C 6: 121,621,969 (GRCm39) probably null Het
Abca7 T A 10: 79,838,957 (GRCm39) probably benign Het
Acvr1c T G 2: 58,205,986 (GRCm39) Q41H probably benign Het
Apob A T 12: 8,050,898 (GRCm39) N1041Y probably damaging Het
Asb5 A T 8: 55,038,798 (GRCm39) probably benign Het
Asxl3 A T 18: 22,650,516 (GRCm39) E835V probably benign Het
Cep170b G A 12: 112,702,086 (GRCm39) R293H probably damaging Het
Chd8 C A 14: 52,448,032 (GRCm39) L316F probably damaging Het
Cldn13 T C 5: 134,944,114 (GRCm39) S24G possibly damaging Het
Cnot10 A T 9: 114,460,923 (GRCm39) N82K probably benign Het
Colec10 G A 15: 54,323,157 (GRCm39) V127M probably damaging Het
Cyp2d40 T C 15: 82,645,478 (GRCm39) S130G unknown Het
Ddx60 T A 8: 62,435,560 (GRCm39) H904Q probably damaging Het
Dnaaf11 A T 15: 66,252,362 (GRCm39) S435T probably benign Het
Dnajc2 T C 5: 21,979,974 (GRCm39) N177S possibly damaging Het
F5 G T 1: 164,021,181 (GRCm39) V1219L probably benign Het
Fam47c G T X: 77,781,454 (GRCm39) R12L probably damaging Het
Fat4 T C 3: 39,061,350 (GRCm39) I4311T possibly damaging Het
Fbf1 A G 11: 116,041,907 (GRCm39) V545A probably benign Het
Fhod3 G A 18: 25,153,777 (GRCm39) E420K probably damaging Het
Ikzf2 T C 1: 69,578,589 (GRCm39) K162E probably damaging Het
Insl6 C A 19: 29,298,953 (GRCm39) S153I possibly damaging Het
Kcnh8 A G 17: 53,141,708 (GRCm39) Y317C probably damaging Het
Lzts1 C A 8: 69,591,759 (GRCm39) V130L probably benign Het
Mill1 T C 7: 17,998,558 (GRCm39) I256T possibly damaging Het
Mycbpap A C 11: 94,400,145 (GRCm39) probably null Het
Or6c65 A G 10: 129,603,464 (GRCm39) Y33C probably damaging Het
Pdia6 T A 12: 17,320,542 (GRCm39) probably benign Het
Pik3c2b C T 1: 132,999,369 (GRCm39) Q406* probably null Het
Pkhd1 C A 1: 20,271,248 (GRCm39) G3102C probably damaging Het
Polr3b T A 10: 84,561,607 (GRCm39) I1122N probably damaging Het
Ryr2 T A 13: 11,653,371 (GRCm39) probably null Het
Samhd1 A G 2: 156,958,321 (GRCm39) I300T probably damaging Het
Skint5 T A 4: 113,662,361 (GRCm39) I609F unknown Het
Slc27a3 G T 3: 90,293,861 (GRCm39) T541K probably damaging Het
Stxbp4 A G 11: 90,512,475 (GRCm39) probably benign Het
Sv2c C T 13: 96,224,797 (GRCm39) V171M probably damaging Het
Tenm2 A G 11: 35,915,075 (GRCm39) V2154A probably damaging Het
Thoc1 A T 18: 9,987,158 (GRCm39) I433F probably benign Het
Thoc2 A T X: 40,916,223 (GRCm39) V865D probably benign Het
Trdn C A 10: 33,076,216 (GRCm39) P282Q probably damaging Het
Twsg1 C A 17: 66,255,699 (GRCm39) C25F probably damaging Het
Usp34 T A 11: 23,423,206 (GRCm39) I3155N probably damaging Het
Vmn2r106 T A 17: 20,498,651 (GRCm39) Q420L probably damaging Het
Vmn2r109 C T 17: 20,770,419 (GRCm39) R523K probably damaging Het
Other mutations in Ccdc73
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00679:Ccdc73 APN 2 104,824,936 (GRCm39) missense probably damaging 1.00
IGL02016:Ccdc73 APN 2 104,805,961 (GRCm39) missense probably benign 0.05
IGL02179:Ccdc73 APN 2 104,737,913 (GRCm39) missense probably damaging 0.99
FR4304:Ccdc73 UTSW 2 104,822,185 (GRCm39) unclassified probably benign
FR4737:Ccdc73 UTSW 2 104,822,185 (GRCm39) unclassified probably benign
IGL03052:Ccdc73 UTSW 2 104,782,281 (GRCm39) missense possibly damaging 0.78
R0010:Ccdc73 UTSW 2 104,811,332 (GRCm39) splice site probably benign
R0040:Ccdc73 UTSW 2 104,822,429 (GRCm39) missense probably damaging 1.00
R0052:Ccdc73 UTSW 2 104,759,915 (GRCm39) splice site probably benign
R0360:Ccdc73 UTSW 2 104,811,352 (GRCm39) missense probably damaging 1.00
R0401:Ccdc73 UTSW 2 104,821,634 (GRCm39) missense probably benign 0.01
R0715:Ccdc73 UTSW 2 104,803,499 (GRCm39) splice site probably benign
R0839:Ccdc73 UTSW 2 104,821,442 (GRCm39) missense probably benign 0.05
R1129:Ccdc73 UTSW 2 104,822,535 (GRCm39) missense possibly damaging 0.51
R1240:Ccdc73 UTSW 2 104,821,906 (GRCm39) missense probably benign 0.05
R1478:Ccdc73 UTSW 2 104,745,012 (GRCm39) missense possibly damaging 0.93
R1478:Ccdc73 UTSW 2 104,737,955 (GRCm39) missense possibly damaging 0.72
R1695:Ccdc73 UTSW 2 104,822,450 (GRCm39) missense probably damaging 1.00
R1924:Ccdc73 UTSW 2 104,822,637 (GRCm39) missense probably damaging 1.00
R1950:Ccdc73 UTSW 2 104,757,280 (GRCm39) missense probably benign 0.01
R1987:Ccdc73 UTSW 2 104,829,504 (GRCm39) missense probably damaging 1.00
R1987:Ccdc73 UTSW 2 104,761,390 (GRCm39) nonsense probably null
R2938:Ccdc73 UTSW 2 104,805,980 (GRCm39) nonsense probably null
R3420:Ccdc73 UTSW 2 104,782,293 (GRCm39) splice site probably null
R3420:Ccdc73 UTSW 2 104,782,292 (GRCm39) missense probably null 1.00
R3422:Ccdc73 UTSW 2 104,782,293 (GRCm39) splice site probably null
R3422:Ccdc73 UTSW 2 104,782,292 (GRCm39) missense probably null 1.00
R3522:Ccdc73 UTSW 2 104,821,830 (GRCm39) missense probably damaging 1.00
R3886:Ccdc73 UTSW 2 104,821,688 (GRCm39) missense possibly damaging 0.94
R4279:Ccdc73 UTSW 2 104,815,355 (GRCm39) missense possibly damaging 0.87
R4791:Ccdc73 UTSW 2 104,811,450 (GRCm39) splice site probably null
R4793:Ccdc73 UTSW 2 104,848,127 (GRCm39) splice site probably null
R4939:Ccdc73 UTSW 2 104,822,502 (GRCm39) splice site probably null
R4950:Ccdc73 UTSW 2 104,822,711 (GRCm39) missense probably benign
R5093:Ccdc73 UTSW 2 104,848,111 (GRCm39) utr 3 prime probably benign
R5150:Ccdc73 UTSW 2 104,822,384 (GRCm39) missense probably benign 0.00
R5381:Ccdc73 UTSW 2 104,820,270 (GRCm39) missense probably damaging 1.00
R5738:Ccdc73 UTSW 2 104,761,331 (GRCm39) missense possibly damaging 0.78
R6148:Ccdc73 UTSW 2 104,822,482 (GRCm39) missense possibly damaging 0.58
R6269:Ccdc73 UTSW 2 104,737,978 (GRCm39) missense probably damaging 1.00
R6738:Ccdc73 UTSW 2 104,822,433 (GRCm39) missense probably benign 0.00
R6753:Ccdc73 UTSW 2 104,821,869 (GRCm39) nonsense probably null
R7062:Ccdc73 UTSW 2 104,782,223 (GRCm39) missense probably damaging 1.00
R7110:Ccdc73 UTSW 2 104,803,569 (GRCm39) missense probably benign 0.21
R7320:Ccdc73 UTSW 2 104,829,521 (GRCm39) missense possibly damaging 0.47
R7436:Ccdc73 UTSW 2 104,782,214 (GRCm39) missense probably damaging 1.00
R7530:Ccdc73 UTSW 2 104,824,915 (GRCm39) missense
R7747:Ccdc73 UTSW 2 104,759,901 (GRCm39) missense probably damaging 1.00
R7952:Ccdc73 UTSW 2 104,775,801 (GRCm39) critical splice donor site probably null
R8178:Ccdc73 UTSW 2 104,821,557 (GRCm39) missense probably benign 0.00
R8824:Ccdc73 UTSW 2 104,822,222 (GRCm39) missense possibly damaging 0.74
R8927:Ccdc73 UTSW 2 104,822,542 (GRCm39) missense
R8928:Ccdc73 UTSW 2 104,822,542 (GRCm39) missense
R8945:Ccdc73 UTSW 2 104,821,712 (GRCm39) missense probably benign 0.03
R9365:Ccdc73 UTSW 2 104,738,011 (GRCm39) missense probably damaging 1.00
Z1177:Ccdc73 UTSW 2 104,822,584 (GRCm39) nonsense probably null
Posted On 2013-10-07