Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02179:Ccdc73'

283248

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

Is this an essential gene?

Probably non essential (E-score: 0.078) question?

Stock #

IGL02179

Quality Score

Status

Chromosome

Chromosomal Location

104867805-105017904 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 104907568 bp (GRCm38)

Zygosity

Heterozygous

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]

AlphaFold

Q8CDM4

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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
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

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
R8824:Ccdc73	UTSW	2	104991877	missense	possibly damaging	0.74
R8927:Ccdc73	UTSW	2	104992197	missense
R8928:Ccdc73	UTSW	2	104992197	missense
R8945:Ccdc73	UTSW	2	104991367	missense	probably benign	0.03
R9365:Ccdc73	UTSW	2	104907666	missense	probably damaging	1.00
Z1177:Ccdc73	UTSW	2	104992239	nonsense	probably null

Posted On

2015-04-16