Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03052:Ccdc73'

392164

Institutional Source

Beutler Lab

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: 0.080) question?

Stock #

IGL03052 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

104867805-105017904 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 104951936 bp

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 212 (H212Q)

Ref Sequence

ENSEMBL: ENSMUSP00000106743 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000111114] [ENSMUST00000127840] [ENSMUST00000151764]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000111114
AA Change: H212Q

PolyPhen 2 Score 0.782 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000106743
Gene: ENSMUSG00000045106
AA Change: H212Q

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: ENSMUST00000127840

SMART Domains

Protein: ENSMUSP00000115091
Gene: ENSMUSG00000045106

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 benign
Transcript: ENSMUST00000151764
AA Change: H212Q

PolyPhen 2 Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000120706
Gene: ENSMUSG00000045106
AA Change: H212Q

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

0.1795

Coding Region Coverage

1x: 0.0%
3x: 0.0%
10x: 0.0%
20x: 0.0%

Validation Efficiency

100% (53/53)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930451G09Rik	A	T	16: 4,977,494		noncoding transcript	Het
5830411N06Rik	G	A	7: 140,248,914	C162Y	probably damaging	Het
Acap3	T	C	4: 155,903,358	F517S	probably damaging	Het
Afap1l1	A	G	18: 61,748,823	V267A	probably benign	Het
Asap1	A	G	15: 64,153,834		probably benign	Het
Bcl6	T	C	16: 23,975,038		probably benign	Het
Cct5	A	T	15: 31,597,487	H85Q	probably damaging	Het
Cfap69	A	C	5: 5,589,206	L238R	probably damaging	Het
Chl1	A	T	6: 103,691,667	T470S	probably benign	Het
Cnga4	T	C	7: 105,404,725	S12P	probably benign	Het
Cyp2c29	C	T	19: 39,287,218	T34M	possibly damaging	Het
Cyp2c67	T	C	19: 39,648,885	D49G	possibly damaging	Het
Dab2ip	A	G	2: 35,643,897	Q45R	probably benign	Het
Ddhd1	A	G	14: 45,620,783	V164A	probably damaging	Het
Dnah7c	A	G	1: 46,632,149	Y1566C	probably damaging	Het
Dnase1l2	T	C	17: 24,440,994		probably benign	Het
Dock2	G	T	11: 34,232,853	N1593K	probably benign	Het
Dpp6	G	T	5: 27,709,508	M530I	probably benign	Het
Epm2a	T	C	10: 11,457,230	V269A	possibly damaging	Het
Fcna	G	C	2: 25,630,681		probably benign	Het
Fgf2	A	G	3: 37,349,012	S55G	probably benign	Het
Frem3	C	T	8: 80,614,530	P1151S	probably damaging	Het
Gm12666	A	G	4: 92,191,050	L178P	probably benign	Het
Gm15737	T	C	6: 92,869,500		probably benign	Het
Gm1840	T	A	8: 5,639,816		noncoding transcript	Het
Gm4759	T	C	7: 106,423,695		noncoding transcript	Het
Hoxa3	G	A	6: 52,170,287		probably benign	Het
Macf1	T	C	4: 123,387,395	I3770V	probably damaging	Het
Mapk15	G	T	15: 75,993,882	R8L	probably benign	Het
Mecom	C	T	3: 29,960,963		probably benign	Het
Mknk2	C	T	10: 80,669,662	R154H	probably benign	Het
Mrgprb3	A	T	7: 48,643,593	V70E	possibly damaging	Het
Mtdh	A	G	15: 34,140,730	K570E	possibly damaging	Het
Myo5c	G	T	9: 75,252,516		probably benign	Het
Myom2	T	C	8: 15,123,442		probably benign	Het
Olfr1489	T	C	19: 13,633,726	I205T	probably benign	Het
Olfr553	C	T	7: 102,614,449	R180Q	probably benign	Het
Olfr843	A	T	9: 19,248,642	Y252*	probably null	Het
Pcca	A	T	14: 122,887,101	M695L	probably benign	Het
Pcdha2	A	T	18: 36,941,617	D767V	probably damaging	Het
Plekhs1	G	A	19: 56,470,757	D16N	probably benign	Het
Prr11	T	C	11: 87,103,652	N56S	possibly damaging	Het
Rxfp2	A	T	5: 150,043,180		probably benign	Het
Sacs	G	T	14: 61,207,858	G2451V	probably damaging	Het
Scarb1	G	A	5: 125,294,099	A4V	probably damaging	Het
Sik3	C	A	9: 46,198,149	T475K	probably damaging	Het
Slco1b2	A	T	6: 141,648,585	I59L	probably benign	Het
Sspo	G	A	6: 48,460,453	G1382R	probably damaging	Het
Stx16	C	A	2: 174,092,438	P145T	probably benign	Het
Tnrc18	G	A	5: 142,775,219	A674V	unknown	Het
Uqcrq	A	G	11: 53,430,649	V14A	possibly damaging	Het
Vmn2r79	A	T	7: 87,003,591	E497V	probably benign	Het
Vps8	T	A	16: 21,448,365	I166K	probably damaging	Het
Vwa8	A	G	14: 79,064,921	D1010G	probably benign	Het
Wnk1	T	A	6: 119,944,799		probably benign	Het
Zfand3	T	A	17: 30,060,824	M29K	probably benign	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
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	utr 3 prime	probably null
R4939:Ccdc73	UTSW	2	104992157	unclassified	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
Z1177:Ccdc73	UTSW	2	104992239	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GTAACAGTCAATGGCAGTTTAATGC -3'
(R):5'- TCCCCAAGAATGTATGTCTCTGATG -3'

Sequencing Primer
(F):5'- GCATTGCGTCTGTTCAT -3'
(R):5'- CAAGAATGTATGTCTCTGATGGTAAG -3'

Posted On

2016-06-09