Mutagenetix > Incidental Mutation

Incidental Mutation 'R3522:Ccdc73'

267511

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: 0.078) question?

Stock #

R3522 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

104867805-105017904 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 104991485 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 593 (D593V)

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: D593V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000106743
Gene: ENSMUSG00000045106
AA Change: D593V

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

0.2990

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 94.8%

Validation Efficiency

100% (72/72)

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931409K22Rik	A	G	5: 24,549,626		probably null	Het
Ankrd35	A	G	3: 96,685,062	E888G	probably damaging	Het
Arhgef10	T	C	8: 14,954,918	F150S	probably damaging	Het
Atp10d	G	T	5: 72,239,157	R235L	probably benign	Het
Cacna1b	A	G	2: 24,763,043	V2A	possibly damaging	Het
Cand1	A	T	10: 119,239,197	L15Q	probably benign	Het
Cavin3	C	A	7: 105,481,143	G154V	probably benign	Het
Cdk5rap2	T	C	4: 70,250,410	K161E	probably damaging	Het
Chil4	A	T	3: 106,203,740	N279K	probably benign	Het
Chst13	T	G	6: 90,318,263	D56A	probably damaging	Het
Cnn1	C	A	9: 22,099,368	H5N	probably benign	Het
Cpsf4l	T	A	11: 113,702,493	K88N	probably damaging	Het
Ctnnbl1	G	T	2: 157,871,193		probably null	Het
Dnah7a	A	C	1: 53,618,116	F834V	probably damaging	Het
Fbxo41	A	G	6: 85,484,181	S182P	probably benign	Het
Fkbp5	T	C	17: 28,415,996	T180A	probably benign	Het
Flg2	T	A	3: 93,220,027	I2082N	unknown	Het
Gm4968	A	G	6: 127,233,762		noncoding transcript	Het
Gpc5	T	A	14: 116,524,335	H612Q	probably benign	Het
Gsg1	A	T	6: 135,241,253	V212D	probably damaging	Het
Hipk1	A	G	3: 103,744,114	V1111A	probably damaging	Het
Hormad1	A	T	3: 95,576,285	Q136L	probably benign	Het
Ifi35	T	A	11: 101,457,685	S147R	probably benign	Het
Iqgap3	C	T	3: 88,090,782	A282V	probably null	Het
Jmy	T	C	13: 93,454,050	D515G	probably damaging	Het
Kctd10	G	A	5: 114,374,923	R64C	probably damaging	Het
Kidins220	T	C	12: 24,990,758	V121A	probably damaging	Het
Lcn3	G	A	2: 25,766,121	V63M	possibly damaging	Het
Lmx1b	T	A	2: 33,639,531	Y72F	probably benign	Het
Lrp1	T	C	10: 127,553,555	D3164G	probably damaging	Het
Mdh1b	C	T	1: 63,719,768	V222M	probably damaging	Het
Mst1	T	C	9: 108,081,503		probably benign	Het
Myo7b	C	A	18: 32,010,079	V189F	probably damaging	Het
Ndc1	T	C	4: 107,393,158	S533P	probably damaging	Het
Ndrg3	T	C	2: 156,944,027	D164G	probably damaging	Het
Nol11	C	T	11: 107,173,628	C500Y	possibly damaging	Het
Nsd3	A	G	8: 25,706,614	N1208D	probably benign	Het
Nup155	C	T	15: 8,156,678		probably benign	Het
Olfr768	A	G	10: 129,093,842	I44T	possibly damaging	Het
Olfr911-ps1	A	G	9: 38,523,785	T18A	probably damaging	Het
Olfr921	A	T	9: 38,775,720	D155V	possibly damaging	Het
Olfr988	A	T	2: 85,353,003	C308S	probably benign	Het
Phf3	A	G	1: 30,805,603	L1425P	probably damaging	Het
Pla2r1	A	G	2: 60,448,906	Y777H	probably damaging	Het
Pld1	A	G	3: 28,031,247	E184G	probably damaging	Het
Plxna1	T	C	6: 89,337,353		probably null	Het
Ptgfrn	T	C	3: 101,043,402	E865G	probably damaging	Het
Ptpn13	G	T	5: 103,589,854		probably benign	Het
Pygb	G	T	2: 150,828,553	V763F	probably benign	Het
Ros1	A	C	10: 52,090,995	Y1705*	probably null	Het
Sec61a2	A	G	2: 5,893,216	F5L	probably benign	Het
Skint5	A	G	4: 113,756,905		probably null	Het
Sntg2	A	G	12: 30,312,567	V60A	probably damaging	Het
Sppl2a	A	G	2: 126,920,322	C280R	possibly damaging	Het
Srrm4	A	C	5: 116,446,544	M1R	probably null	Het
Sult1c1	T	C	17: 53,972,015	E91G	probably damaging	Het
Themis2	C	G	4: 132,785,595	R440P	probably damaging	Het
Tmem229a	A	G	6: 24,955,059	L232P	probably benign	Het
Trappc1	T	C	11: 69,324,422	F43L	probably damaging	Het
Trappc11	A	T	8: 47,498,673	Y982N	possibly damaging	Het
Trpv6	A	T	6: 41,627,405	M139K	probably damaging	Het
Txnrd3	A	G	6: 89,663,075		probably null	Het
Vmn1r184	T	A	7: 26,267,583	Y251*	probably null	Het
Vmn1r216	A	G	13: 23,099,374	N76D	possibly damaging	Het
Vmn1r71	C	A	7: 10,747,865	V233F	probably benign	Het
Vps13a	A	C	19: 16,766,493		probably benign	Het
Vwa5b2	A	G	16: 20,601,608	S756G	probably damaging	Het
Wdr36	T	A	18: 32,861,485		probably null	Het
Wdr86	A	G	5: 24,718,307	V129A	probably benign	Het
Zfyve9	A	G	4: 108,719,743	L47S	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
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
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

Predicted Primers

PCR Primer
(F):5'- TGGAATGTCCCCACACAGAG -3'
(R):5'- CATGACTTGAATCCTGTAAACCATG -3'

Sequencing Primer
(F):5'- GAGTCCTTTGCCTAGATAAAGATGC -3'
(R):5'- TGAATCCTGTAAACCATGTTTCTTAC -3'

Posted On

2015-02-18