Mutagenetix > Incidental Mutation

Incidental Mutation 'R8178:Ccdc73'

634460

Institutional Source

Beutler Lab

Gene Symbol

Ccdc73

Ensembl Gene

ENSMUSG00000045106

Gene Name

coiled-coil domain containing 73

Synonyms

2210415I11Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.099) question?

Stock #

R8178 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

104867805-105017904 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 104991212 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Leucine at position 502 (S502L)

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: S502L

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

SMART Domains

Protein: ENSMUSP00000106743
Gene: ENSMUSG00000045106
AA Change: S502L

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 99.0%

Validation Efficiency

99% (68/69)

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921513D11Rik	A	G	17: 79,628,270	I276V		Het
Acsm5	C	A	7: 119,542,395	H538N	probably damaging	Het
Adamts17	A	G	7: 66,849,716	I4V	possibly damaging	Het
Adgrg3	T	C	8: 95,035,047	V146A	probably damaging	Het
Ankrd52	T	A	10: 128,389,301	L877Q	probably damaging	Het
Aox3	A	T	1: 58,150,322	D394V	possibly damaging	Het
Arhgef4	A	G	1: 34,722,902	E413G	unknown	Het
Arhgef5	T	C	6: 43,275,185	S957P	probably benign	Het
Arsk	G	T	13: 76,091,742	T114K	probably damaging	Het
Bpifb2	T	C	2: 153,891,956	V406A	probably damaging	Het
Carkd	A	C	8: 11,511,987	K275Q	probably benign	Het
Cbr3	C	A	16: 93,683,505	Q61K	probably benign	Het
Cdhr3	A	T	12: 33,048,932		probably null	Het
Cep170b	T	A	12: 112,739,285	M1159K	possibly damaging	Het
Cep295	A	T	9: 15,333,540	S1159T		Het
Cit	C	T	5: 115,969,072	R1088W	probably damaging	Het
Col16a1	A	T	4: 130,053,477	H205L	unknown	Het
Cpt1c	T	G	7: 44,959,653	H748P	probably damaging	Het
Dcaf8	A	T	1: 172,186,319	D359V	probably benign	Het
Dcstamp	A	G	15: 39,755,026	Y277C	probably damaging	Het
Dnah10	A	G	5: 124,755,726	K898R	probably benign	Het
Dnah6	T	A	6: 73,060,225	T3345S	probably benign	Het
Dpp6	A	T	5: 27,598,817	N254Y	probably damaging	Het
F2	A	T	2: 91,630,273		probably null	Het
Fam216b	G	C	14: 78,085,064	H67D	possibly damaging	Het
Fbxl17	A	C	17: 63,487,972		probably null	Het
Gas2	T	A	7: 51,897,278	M59K	probably damaging	Het
Glud1	G	A	14: 34,343,707	G554D	probably damaging	Het
Gm15448	T	C	7: 3,821,261	K631R	unknown	Het
Gm5483	T	G	16: 36,186,402	Y35*	probably null	Het
Gys2	C	T	6: 142,456,412	G234R	probably damaging	Het
Hmha1	G	A	10: 80,027,872	A819T	probably damaging	Het
Ifngr1	A	G	10: 19,609,493	I413M	probably benign	Het
Inpp5a	C	T	7: 139,538,237	R236C	probably damaging	Het
Kcnip3	A	G	2: 127,482,014	S32P	probably benign	Het
Lingo3	T	A	10: 80,834,630	T489S	possibly damaging	Het
Lrpprc	A	G	17: 84,772,147	L227P	probably damaging	Het
Morn1	A	G	4: 155,128,703	Q356R	probably benign	Het
Nbeal1	G	C	1: 60,237,151	V684L	probably benign	Het
Nck1	A	T	9: 100,497,737	W154R	probably damaging	Het
Olfr1109	C	T	2: 87,092,876	V174M	possibly damaging	Het
Olfr51	T	A	11: 51,007,610	C213S	probably damaging	Het
Olfr869	T	C	9: 20,137,275	V53A	possibly damaging	Het
Olfr975	G	A	9: 39,950,412	R120C	probably benign	Het
Pdxk	C	T	10: 78,453,504	V38M	probably damaging	Het
Peg10	GC	GCTCC	6: 4,756,452		probably benign	Het
Pes1	T	C	11: 3,977,718	S482P	probably benign	Het
Pglyrp1	T	A	7: 18,884,732	F3I	unknown	Het
Plce1	T	A	19: 38,772,979	F2092I	possibly damaging	Het
Pms1	A	G	1: 53,207,346	S345P	probably benign	Het
Pom121l12	C	A	11: 14,600,011	P239H	probably damaging	Het
Prdm2	A	G	4: 143,132,448	I1424T	probably benign	Het
Prmt6	A	G	3: 110,250,824	Y50H	probably damaging	Het
Rbm39	T	C	2: 156,154,275	I397V	probably benign	Het
Rnf157	A	G	11: 116,347,481	V519A	possibly damaging	Het
Sec23a	T	C	12: 59,007,194	E6G	possibly damaging	Het
Shank1	T	C	7: 44,313,324		probably null	Het
Slfn3	A	G	11: 83,214,679	I378V	probably benign	Het
Smn1	T	A	13: 100,130,795		probably null	Het
Snd1	T	C	6: 28,874,976	F632S	possibly damaging	Het
Sun5	T	C	2: 153,856,211		probably null	Het
Tial1	T	C	7: 128,444,890	R209G	probably benign	Het
Trhde	T	C	10: 114,408,693	I963V	possibly damaging	Het
Tssc4	G	T	7: 143,070,195	R80L	possibly damaging	Het
Ttn	A	T	2: 76,812,508	N13261K	probably damaging	Het
Ugdh	A	T	5: 65,423,662		probably null	Het
Vmn1r218	A	T	13: 23,137,302	E273V	probably benign	Het
Vmn2r92	T	A	17: 18,166,726	F109Y	possibly damaging	Het
Zcchc7	A	G	4: 44,931,398	S196G	probably benign	Het
Zfp788	T	A	7: 41,648,911	C324S	probably damaging	Het
Zfp976	T	C	7: 42,613,535	T294A	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
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
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'- TTTAGCATCCAGACATACACTTGC -3'
(R):5'- CTGTGGAGAAGGCCTAATCC -3'

Sequencing Primer
(F):5'- AGGTGACACATGTTATAAACAGC -3'
(R):5'- AAGGCCTAATCCTTCAGTTCC -3'

Posted On

2020-07-13