Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00679:Ccdc73'

12513

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 #

IGL00679

Quality Score

Status

Chromosome

Chromosomal Location

104716669-104830082 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 104824936 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 990 (P990S)

Ref Sequence

ENSEMBL: ENSMUSP00000106743 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000111114] [ENSMUST00000151764]

AlphaFold

Q8CDM4

Predicted Effect

probably damaging
Transcript: ENSMUST00000111114
AA Change: P990S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000106743
Gene: ENSMUSG00000045106
AA Change: P990S

Domain	Start	End	E-Value	Type
low complexity region	4	20	N/A	INTRINSIC
Pfam:CCDC73	27	1061	N/A	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000144358
AA Change: P162S

SMART Domains

Protein: ENSMUSP00000114374
Gene: ENSMUSG00000045106
AA Change: P162S

Domain	Start	End	E-Value	Type
Pfam:CCDC73	1	182	3.1e-77	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000151764

SMART Domains

Protein: ENSMUSP00000120706
Gene: ENSMUSG00000045106

Domain	Start	End	E-Value	Type
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: 13 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap5	C	A	12: 52,564,064 (GRCm39)	A345D	probably damaging	Het
Cep112	A	G	11: 108,481,879 (GRCm39)	K692R	probably damaging	Het
Cep57l1	A	T	10: 41,595,796 (GRCm39)	C319*	probably null	Het
Cfap276	A	G	3: 108,444,951 (GRCm39)	E6G	possibly damaging	Het
Cntnap5c	A	G	17: 58,362,673 (GRCm39)	D342G	probably damaging	Het
Exoc1	A	T	5: 76,714,870 (GRCm39)	H742L	possibly damaging	Het
Faah	A	T	4: 115,865,480 (GRCm39)	L69Q	possibly damaging	Het
Fbxw21	G	A	9: 108,991,032 (GRCm39)	P9L	probably damaging	Het
Irak4	T	A	15: 94,454,509 (GRCm39)	M218K	probably benign	Het
Kdm2a	A	T	19: 4,376,869 (GRCm39)	C235S	probably damaging	Het
Rab4a	A	G	8: 124,554,153 (GRCm39)	D29G	probably damaging	Het
Slc22a8	A	G	19: 8,582,219 (GRCm39)	I133M	possibly damaging	Het
Wipi2	A	G	5: 142,644,904 (GRCm39)	D170G	probably damaging	Het

Other mutations in Ccdc73

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01313:Ccdc73	APN	2	104,737,972 (GRCm39)	missense	probably benign	0.00
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

2012-12-06