Mutagenetix > Incidental Mutation

Incidental Mutation 'R3422:Ccdc73'

267075

Institutional Source

Beutler Lab

Gene Symbol

Ccdc73

Ensembl Gene

ENSMUSG00000045106

Gene Name

coiled-coil domain containing 73

Synonyms

2210415I11Rik

MMRRC Submission

040640-MU

Accession Numbers

Essential gene?

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

Stock #

R3422 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

104867805-105017904 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

G to A at 104951948 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000120706 (fasta)

Gene Model

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

AlphaFold

Q8CDM4

Predicted Effect

probably null
Transcript: ENSMUST00000111114

SMART Domains

Protein: ENSMUSP00000106743
Gene: ENSMUSG00000045106

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 null
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

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.2%
20x: 94.7%

Validation Efficiency

100% (40/40)

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agbl3	A	G	6: 34,793,965	T132A	probably benign	Het
Ahnak	A	G	19: 9,005,708	D1452G	probably benign	Het
Ahnak	A	G	19: 9,006,752	D1800G	probably benign	Het
Armc4	T	C	18: 7,223,523		probably benign	Het
Atp7b	C	T	8: 22,028,670	D51N	probably damaging	Het
Brca2	A	G	5: 150,543,121	T2117A	possibly damaging	Het
Ckap5	T	A	2: 91,570,252	W650R	probably damaging	Het
D930048N14Rik	T	C	11: 51,654,958	*226R	probably null	Het
Fam19a1	C	A	6: 96,649,138	D112E	probably damaging	Het
Grin1	C	T	2: 25,303,914	G390D	probably damaging	Het
Ifit1bl1	T	G	19: 34,593,950	N369T	probably benign	Het
Kcnip1	A	G	11: 33,645,594	V43A	probably damaging	Het
Kifap3	T	A	1: 163,794,026	I81N	probably damaging	Het
Me2	C	T	18: 73,791,194	A316T	probably damaging	Het
Mgat4d	T	C	8: 83,358,143	S172P	probably damaging	Het
Mrc2	G	A	11: 105,348,431		probably null	Het
Nmt2	A	G	2: 3,284,388	E31G	possibly damaging	Het
Nuak2	A	G	1: 132,332,080	D532G	probably benign	Het
Nwd2	G	T	5: 63,725,193	V63L	possibly damaging	Het
Olfr20	A	G	11: 73,354,634	N294D	probably damaging	Het
Olfr725	T	C	14: 50,034,540	T288A	possibly damaging	Het
Otub1	C	T	19: 7,199,059	D237N	probably damaging	Het
Pik3cg	A	T	12: 32,204,739	F416L	probably damaging	Het
Psmb2	T	C	4: 126,677,837	M28T	probably damaging	Het
Saysd1	T	A	14: 20,082,926	K54N	probably benign	Het
Slc5a4a	T	C	10: 76,176,573	V359A	probably benign	Het
Slc7a3	T	A	X: 101,080,875		probably benign	Het
Soat2	T	C	15: 102,156,809		probably benign	Het
Spink5	A	G	18: 44,010,244	K756R	probably benign	Het
Tlr4	A	G	4: 66,839,536	I189V	probably benign	Het
Vsig2	G	A	9: 37,541,479	V195I	possibly damaging	Het
Zfp217	A	G	2: 170,120,017	F130S	possibly damaging	Het
Zfp91	G	A	19: 12,770,292	A489V	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
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

PCR Primer
(F):5'- TACATTGCATTGCGTCTGTTCATG -3'
(R):5'- CCCCAAGAATGTATGTCTCTGATGG -3'

Sequencing Primer
(F):5'- ATTGCGTCTGTTCATGTTCATATTAG -3'
(R):5'- GTATGTCTCTGATGGTAAGTTGAAG -3'

Posted On

2015-02-18