Mutagenetix > Incidental Mutation

Incidental Mutation 'R5150:Ccdc73'

395286

Institutional Source

Beutler Lab

Gene Symbol

Ccdc73

Ensembl Gene

ENSMUSG00000045106

Gene Name

coiled-coil domain containing 73

Synonyms

2210415I11Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.088) question?

Stock #

R5150 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

104867805-105017904 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 104992039 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 778 (T778A)

Ref Sequence

ENSEMBL: ENSMUSP00000106743 (fasta)

Gene Model

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

AlphaFold

Q8CDM4

Predicted Effect

probably benign
Transcript: ENSMUST00000111114
AA Change: T778A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000106743
Gene: ENSMUSG00000045106
AA Change: T778A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000144358

SMART Domains

Protein: ENSMUSP00000114374
Gene: ENSMUSG00000045106

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.9%

Validation Efficiency

93% (57/61)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110043O21Rik	A	G	4: 35,193,270	S228P	possibly damaging	Het
9930021J03Rik	C	A	19: 29,805,550	A109S	probably damaging	Het
Adam33	T	C	2: 131,053,197		probably benign	Het
Ahnak	T	C	19: 9,010,904	V3184A	possibly damaging	Het
Aoc1	A	G	6: 48,906,150	N320S	possibly damaging	Het
Bin2	T	C	15: 100,645,363	E313G	probably damaging	Het
Ccdc47	T	C	11: 106,205,439	D253G	possibly damaging	Het
Cops3	C	A	11: 59,820,013	D377Y	probably damaging	Het
Cyp4a14	A	C	4: 115,493,609	V156G	probably damaging	Het
D6Ertd527e	C	G	6: 87,111,524	T223S	unknown	Het
Disp1	C	A	1: 183,089,499	M452I	probably damaging	Het
Fam210b	T	C	2: 172,351,548	Y94H	probably damaging	Het
Fbxo45	C	A	16: 32,246,706		probably benign	Het
Flrt2	T	A	12: 95,779,203	M105K	possibly damaging	Het
Gm26558	G	A	2: 70,661,312		probably benign	Het
Gpr83	T	G	9: 14,860,805	L91R	probably damaging	Het
Greb1l	TTTAATAACTT	TTT	18: 10,555,950		probably null	Het
Hmces	T	A	6: 87,933,235		probably null	Het
Itgb4	C	T	11: 115,984,157	R447W	probably benign	Het
Ksr2	A	C	5: 117,555,009	E174A	probably damaging	Het
Lats1	A	G	10: 7,712,651	T1011A	probably benign	Het
Lrrc46	T	C	11: 97,036,131	D120G	probably damaging	Het
Ncstn	C	A	1: 172,067,584		probably benign	Het
Neb	T	C	2: 52,169,118	T6118A	probably benign	Het
Nipsnap2	A	C	5: 129,757,111	M272L	probably benign	Het
Nlgn2	C	T	11: 69,825,390	R775H	probably damaging	Het
Olfr1284	T	A	2: 111,379,253	D84E	probably damaging	Het
Olfr1309	T	A	2: 111,984,021	T18S	probably benign	Het
Olfr1314	T	A	2: 112,092,535	L55F	possibly damaging	Het
Olfr135	A	C	17: 38,208,317	E24A	possibly damaging	Het
Olfr1474	A	T	19: 13,471,430	Q153H	probably benign	Het
Olfr157	A	G	4: 43,836,301	L63P	probably damaging	Het
Pold1	A	G	7: 44,535,832	V750A	possibly damaging	Het
Prdm11	C	T	2: 92,975,472	E378K	probably damaging	Het
Ptpn9	A	G	9: 57,036,670	D276G	probably benign	Het
Rlf	A	T	4: 121,148,172	F1204I	probably damaging	Het
Robo1	C	A	16: 72,972,304	T537K	possibly damaging	Het
Sec31b	T	A	19: 44,520,531	M670L	probably benign	Het
Sephs1	T	A	2: 4,899,510	V233E	possibly damaging	Het
Serpinb2	T	C	1: 107,523,209		probably null	Het
Sf3b3	T	C	8: 110,823,376	Q670R	possibly damaging	Het
Slc8a2	A	C	7: 16,145,176	D529A	possibly damaging	Het
Sva	A	G	6: 42,042,159	N88D	probably benign	Het
Tcf15	G	T	2: 152,144,131	R169L	probably damaging	Het
Tfr2	A	G	5: 137,574,490	T188A	probably benign	Het
Tshz1	T	A	18: 84,013,215	K1023*	probably null	Het
Ttc28	A	G	5: 111,225,689	N966S	probably damaging	Het
Unc5c	T	A	3: 141,757,793	I225N	probably damaging	Het
Ush2a	T	C	1: 188,451,870	L1457S	possibly damaging	Het
Zbtb34	G	T	2: 33,411,121	H469Q	probably damaging	Het
Zfp692	T	C	11: 58,307,587	M1T	probably null	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
IGL02179:Ccdc73	APN	2	104907568	missense	probably damaging	0.99
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
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

Predicted Primers

PCR Primer
(F):5'- AACCATTGCCTGTGCTGCAG -3'
(R):5'- AGGATGCCGTTTAATGCCTCTG -3'

Sequencing Primer
(F):5'- AGTCGTCAGCCCACTTGGTC -3'
(R):5'- ATGCCGTTTAATGCCTCTGTTTTG -3'

Posted On

2016-06-21