Mutagenetix > Incidental Mutation

Incidental Mutation 'R1478:Ccdc73'

165601

Institutional Source

Beutler Lab

Gene Symbol

Ccdc73

Ensembl Gene

ENSMUSG00000045106

Gene Name

coiled-coil domain containing 73

Synonyms

2210415I11Rik

MMRRC Submission

039531-MU

Accession Numbers

Essential gene?

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

Stock #

R1478 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

104867805-105017904 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 104907610 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 17 (Q17L)

Ref Sequence

ENSEMBL: ENSMUSP00000120706 (fasta)

Gene Model

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

AlphaFold

Q8CDM4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000111114
AA Change: Q17L

PolyPhen 2 Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000106743
Gene: ENSMUSG00000045106
AA Change: Q17L

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
AA Change: Q17L

PolyPhen 2 Score 0.332 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000115091
Gene: ENSMUSG00000045106
AA Change: Q17L

Domain	Start	End	E-Value	Type
low complexity region	4	20	N/A	INTRINSIC
coiled coil region	48	134	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000151764
AA Change: Q17L

PolyPhen 2 Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000120706
Gene: ENSMUSG00000045106
AA Change: Q17L

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

1x: 99.1%
3x: 98.2%
10x: 95.7%
20x: 90.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931417E11Rik	A	T	6: 73,469,056	L170Q	probably damaging	Het
Aacs	T	A	5: 125,503,223	I204N	possibly damaging	Het
Acaca	A	G	11: 84,372,627	T2025A	probably damaging	Het
B4galt3	C	T	1: 171,276,365	R170C	probably benign	Het
BC028528	T	C	3: 95,891,959		probably null	Het
Ccdc83	T	C	7: 90,259,469	D19G	probably damaging	Het
Cct8l1	T	C	5: 25,517,769	V494A	probably benign	Het
Chd1	T	C	17: 15,739,507	F663L	probably damaging	Het
Chn2	A	T	6: 54,293,080	E319V	probably damaging	Het
Cnnm1	T	C	19: 43,471,856	V679A	probably damaging	Het
Cntn6	C	T	6: 104,776,428	T447I	probably benign	Het
Cyp3a11	G	T	5: 145,858,771	L457I	probably benign	Het
Dera	T	A	6: 137,830,195	S214T	possibly damaging	Het
Dmtf1	A	G	5: 9,121,404	V501A	possibly damaging	Het
Dnpep	A	G	1: 75,316,027	V114A	probably damaging	Het
Dscam	C	T	16: 96,790,910	V722M	probably benign	Het
Dsp	A	G	13: 38,181,138	N499S	probably damaging	Het
Ecd	A	T	14: 20,346,657	Y53*	probably null	Het
Esyt3	T	C	9: 99,318,066	T692A	probably benign	Het
Fam19a2	T	A	10: 123,593,496	M5K	possibly damaging	Het
Fat1	T	A	8: 45,025,622	N2545K	probably damaging	Het
Fndc3a	A	G	14: 72,557,632		probably null	Het
Fscn3	A	G	6: 28,430,568	M246V	probably benign	Het
Gde1	G	T	7: 118,691,784	T106K	probably benign	Het
Gjc2	A	G	11: 59,177,608	I16T	possibly damaging	Het
Hacd4	A	T	4: 88,423,023	M168K	probably damaging	Het
Hmx3	A	G	7: 131,544,097	E178G	probably damaging	Het
Htt	A	G	5: 34,803,827	Y266C	probably damaging	Het
Kif27	G	T	13: 58,303,545	R990S	probably damaging	Het
Krtap22-2	A	T	16: 89,010,646	Y21*	probably null	Het
Lrrc41	T	A	4: 116,095,208	L661*	probably null	Het
Lrrc63	T	C	14: 75,125,984	T236A	probably benign	Het
Mmp13	T	C	9: 7,272,892	L84P	probably damaging	Het
Myh8	T	C	11: 67,292,725	I754T	probably benign	Het
Neb	A	C	2: 52,175,607	D5961E	probably benign	Het
Nlrx1	T	C	9: 44,264,077	H134R	probably benign	Het
Npepps	A	T	11: 97,226,847	M542K	probably benign	Het
Nup160	C	T	2: 90,679,399		probably benign	Het
Olfr402	T	A	11: 74,155,137		probably null	Het
Olfr952	T	A	9: 39,426,592	T160S	possibly damaging	Het
Pikfyve	T	C	1: 65,262,977		probably null	Het
Ppp6r1	A	T	7: 4,640,378		probably null	Het
Prss33	A	G	17: 23,835,098	W45R	probably damaging	Het
Ptprf	A	T	4: 118,212,105	Y980*	probably null	Het
Qrich1	T	C	9: 108,559,332	V743A	probably benign	Het
Rev3l	G	A	10: 39,783,333		probably null	Het
Samd9l	A	T	6: 3,376,369	N297K	probably benign	Het
Sap130	A	G	18: 31,680,474	H528R	possibly damaging	Het
Slc9b2	T	C	3: 135,326,102	V241A	probably benign	Het
Snx14	A	T	9: 88,394,528	V577E	probably benign	Het
Srrm2	T	C	17: 23,815,902	S507P	probably benign	Het
Stat2	A	G	10: 128,282,100		probably null	Het
Susd5	T	C	9: 114,096,684	F545S	probably benign	Het
Tnnt2	A	G	1: 135,848,026	T107A	probably benign	Het
Trappc6b	T	A	12: 59,048,167	I41F	possibly damaging	Het
Ttn	T	A	2: 76,852,073		probably benign	Het
Vmn1r88	A	C	7: 13,177,951	D78A	probably damaging	Het
Wisp3	G	A	10: 39,153,243	R230W	probably damaging	Het
Xpc	C	T	6: 91,508,528	D122N	possibly damaging	Het
Xpo1	C	T	11: 23,291,623	A890V	probably damaging	Het
Zfp493	A	G	13: 67,786,561	H211R	probably damaging	Het
Zfp958	A	T	8: 4,629,190	H405L	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
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	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

Predicted Primers

Posted On

2014-03-28