Mutagenetix > Incidental Mutation

Incidental Mutation 'R7320:Ccdc73'

568114

Institutional Source

Beutler Lab

Gene Symbol

Ccdc73

Ensembl Gene

ENSMUSG00000045106

Gene Name

coiled-coil domain containing 73

Synonyms

2210415I11Rik

MMRRC Submission

045370-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

R7320 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

104716669-104830082 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 104829521 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 1065 (I1065F)

Ref Sequence

ENSEMBL: ENSMUSP00000106743 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028592] [ENSMUST00000111110] [ENSMUST00000111114] [ENSMUST00000148476]

AlphaFold

Q8CDM4

Predicted Effect

probably benign
Transcript: ENSMUST00000028592

SMART Domains

Protein: ENSMUSP00000028592
Gene: ENSMUSG00000027170

Domain	Start	End	E-Value	Type
Blast:HDc	119	209	1e-12	BLAST
PINT	268	357	6.42e-26	SMART
low complexity region	358	372	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000111110

SMART Domains

Protein: ENSMUSP00000106739
Gene: ENSMUSG00000027170

Domain	Start	End	E-Value	Type
Blast:HDc	13	77	7e-8	BLAST
PINT	136	225	6.42e-26	SMART
low complexity region	226	240	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000111114
AA Change: I1065F

PolyPhen 2 Score 0.473 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000106743
Gene: ENSMUSG00000045106
AA Change: I1065F

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: ENSMUST00000148476

SMART Domains

Protein: ENSMUSP00000122339
Gene: ENSMUSG00000027170

Domain	Start	End	E-Value	Type
Blast:PINT	84	126	7e-25	BLAST
low complexity region	127	141	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc3	A	G	11: 94,258,471 (GRCm39)	I458T	probably benign	Het
Adam29	A	G	8: 56,325,749 (GRCm39)	I235T	possibly damaging	Het
Afap1	G	A	5: 36,105,567 (GRCm39)	V174I	probably damaging	Het
Ak8	A	T	2: 28,703,004 (GRCm39)	D456V	probably damaging	Het
Alb	T	C	5: 90,612,846 (GRCm39)		probably null	Het
Alox12	C	T	11: 70,145,298 (GRCm39)	A92T	probably benign	Het
Arhgap23	T	C	11: 97,342,371 (GRCm39)	S218P	probably benign	Het
Blm	G	A	7: 80,105,102 (GRCm39)	Q1389*	probably null	Het
C1ql4	A	T	15: 98,985,605 (GRCm39)	V2E	unknown	Het
Casp12	A	G	9: 5,348,897 (GRCm39)		probably null	Het
Ccdc83	C	T	7: 89,873,242 (GRCm39)	G371D	probably damaging	Het
Cfap65	A	G	1: 74,965,763 (GRCm39)	S416P	probably damaging	Het
Cftr	T	A	6: 18,319,012 (GRCm39)	C1351S	probably damaging	Het
Clcn4	A	T	7: 7,294,827 (GRCm39)	H311Q	probably benign	Het
Cldn13	T	G	5: 134,943,874 (GRCm39)	I104L	probably benign	Het
Cul9	A	G	17: 46,821,835 (GRCm39)	V1880A	possibly damaging	Het
Ddx17	A	T	15: 79,416,105 (GRCm39)	D407E	probably damaging	Het
Ddx28	G	A	8: 106,737,957 (GRCm39)	P34S	probably damaging	Het
Dnah5	A	T	15: 28,270,616 (GRCm39)	N973Y	probably null	Het
Dnai4	A	T	4: 102,907,384 (GRCm39)	I634N	possibly damaging	Het
Dock10	A	G	1: 80,527,421 (GRCm39)		probably null	Het
Dock3	T	C	9: 106,772,723 (GRCm39)	D510G	probably benign	Het
Dst	T	A	1: 34,230,175 (GRCm39)	D2589E	probably benign	Het
E2f7	T	C	10: 110,599,991 (GRCm39)	Y249H	not run	Het
Eef2kmt	T	C	16: 5,068,373 (GRCm39)	Y69C	possibly damaging	Het
Elapor1	T	A	3: 108,371,619 (GRCm39)	K650*	probably null	Het
Erlin1	T	C	19: 44,047,504 (GRCm39)	Y139C	probably damaging	Het
Exog	G	T	9: 119,291,544 (GRCm39)	V274L	possibly damaging	Het
Fam83e	G	A	7: 45,371,896 (GRCm39)	V98M	probably benign	Het
Fras1	C	T	5: 96,857,745 (GRCm39)	T2013I	probably benign	Het
Gart	G	T	16: 91,418,569 (GRCm39)	A970E	probably benign	Het
Gga2	T	A	7: 121,601,326 (GRCm39)	H259L	probably benign	Het
Glis3	C	A	19: 28,508,998 (GRCm39)	V329F	probably damaging	Het
Gm6356	T	A	14: 6,972,923 (GRCm38)	N53I	probably damaging	Het
Golgb1	C	A	16: 36,736,313 (GRCm39)	C1894*	probably null	Het
Ifi203	T	C	1: 173,756,733 (GRCm39)	N350S	unknown	Het
Isy1	T	A	6: 87,810,688 (GRCm39)	R55S	unknown	Het
Itsn1	A	T	16: 91,636,587 (GRCm39)	D678V	unknown	Het
Lhcgr	T	A	17: 89,049,506 (GRCm39)	R673S	probably benign	Het
Lnx2	C	A	5: 146,956,943 (GRCm39)	R601L	possibly damaging	Het
Map4	A	G	9: 109,910,585 (GRCm39)	T1093A	probably benign	Het
Minar1	A	G	9: 89,483,679 (GRCm39)	S573P	probably benign	Het
Mink1	A	G	11: 70,489,899 (GRCm39)	K92E	probably benign	Het
Moxd1	A	G	10: 24,177,363 (GRCm39)	I560V	probably benign	Het
Mrc2	C	A	11: 105,220,061 (GRCm39)	D327E	possibly damaging	Het
Notch2	A	G	3: 98,038,643 (GRCm39)	E1262G	possibly damaging	Het
Or2g1	T	A	17: 38,107,248 (GRCm39)	N304K	probably benign	Het
Or4k48	A	G	2: 111,476,297 (GRCm39)	L15S	probably benign	Het
Or52d3	C	A	7: 104,229,645 (GRCm39)	S264*	probably null	Het
Or5an1	G	A	19: 12,261,180 (GRCm39)	G256D	possibly damaging	Het
Or5b120	T	A	19: 13,480,544 (GRCm39)	M279K	possibly damaging	Het
Or5j3	GTACTTTTT	GT	2: 86,128,338 (GRCm39)		probably null	Het
Or5m13	A	T	2: 85,748,718 (GRCm39)	I150F	probably benign	Het
Or6c5b	A	T	10: 129,245,654 (GRCm39)	T140S	possibly damaging	Het
Pcbp2	T	A	15: 102,381,782 (GRCm39)	V5E	probably damaging	Het
Pcp4l1	G	A	1: 171,002,034 (GRCm39)	A42V	possibly damaging	Het
Pgghg	A	T	7: 140,522,953 (GRCm39)	Y104F	probably benign	Het
Plscr2	T	C	9: 92,173,193 (GRCm39)		probably null	Het
Ppfibp1	C	T	6: 146,879,551 (GRCm39)	A25V	probably damaging	Het
Ptgfr	C	T	3: 151,541,034 (GRCm39)	G158D	probably benign	Het
Ptgs2	T	C	1: 149,978,446 (GRCm39)	F186S	probably damaging	Het
Ptpn14	A	G	1: 189,564,956 (GRCm39)	E181G	probably benign	Het
Rpgrip1	A	G	14: 52,368,673 (GRCm39)	K291E	possibly damaging	Het
Rtn4rl1	T	C	11: 75,085,122 (GRCm39)		probably null	Het
Sema3b	T	A	9: 107,478,141 (GRCm39)	M415L	probably benign	Het
Sh3bp4	A	G	1: 89,073,216 (GRCm39)	E688G	probably damaging	Het
Slco6c1	G	A	1: 97,055,887 (GRCm39)	R5C	possibly damaging	Het
Slmap	A	G	14: 26,181,227 (GRCm39)	F369L	possibly damaging	Het
Sphk2	T	C	7: 45,361,894 (GRCm39)	N181S	possibly damaging	Het
Sqor	A	G	2: 122,641,730 (GRCm39)	T235A	probably benign	Het
St13	A	G	15: 81,273,854 (GRCm39)	L80P	probably damaging	Het
St3gal6	A	G	16: 58,314,074 (GRCm39)	Y20H	probably benign	Het
Sun1	T	G	5: 139,234,239 (GRCm39)	Y899D	probably damaging	Het
Synm	C	T	7: 67,385,128 (GRCm39)	E845K	possibly damaging	Het
Tg	A	T	15: 66,566,633 (GRCm39)	D1227V	possibly damaging	Het
Thbs1	A	G	2: 117,945,438 (GRCm39)	N306D	possibly damaging	Het
Tmcc3	A	T	10: 94,414,357 (GRCm39)	N51Y	possibly damaging	Het
Usp4	A	G	9: 108,265,505 (GRCm39)	D856G	probably benign	Het
Vil1	G	A	1: 74,457,603 (GRCm39)	A79T	probably damaging	Het
Vmn1r119	T	A	7: 20,746,271 (GRCm39)	H37L	probably damaging	Het
Vmn2r110	A	T	17: 20,816,316 (GRCm39)	M69K	probably benign	Het
Ywhaq	A	G	12: 21,444,982 (GRCm39)	L221P	probably damaging	Het
Zfp142	G	A	1: 74,609,167 (GRCm39)	Q1543*	probably null	Het
Zfp384	T	A	6: 125,001,793 (GRCm39)	M146K	possibly damaging	Het

Other mutations in Ccdc73

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00679:Ccdc73	APN	2	104,824,936 (GRCm39)	missense	probably damaging	1.00
IGL01313:Ccdc73	APN	2	104,737,972 (GRCm39)	missense	probably benign	0.00
IGL02016:Ccdc73	APN	2	104,805,961 (GRCm39)	missense	probably benign	0.05
IGL02179:Ccdc73	APN	2	104,737,913 (GRCm39)	missense	probably damaging	0.99
FR4304:Ccdc73	UTSW	2	104,822,185 (GRCm39)	unclassified	probably benign
FR4737:Ccdc73	UTSW	2	104,822,185 (GRCm39)	unclassified	probably benign
IGL03052:Ccdc73	UTSW	2	104,782,281 (GRCm39)	missense	possibly damaging	0.78
R0010:Ccdc73	UTSW	2	104,811,332 (GRCm39)	splice site	probably benign
R0040:Ccdc73	UTSW	2	104,822,429 (GRCm39)	missense	probably damaging	1.00
R0052:Ccdc73	UTSW	2	104,759,915 (GRCm39)	splice site	probably benign
R0360:Ccdc73	UTSW	2	104,811,352 (GRCm39)	missense	probably damaging	1.00
R0401:Ccdc73	UTSW	2	104,821,634 (GRCm39)	missense	probably benign	0.01
R0715:Ccdc73	UTSW	2	104,803,499 (GRCm39)	splice site	probably benign
R0839:Ccdc73	UTSW	2	104,821,442 (GRCm39)	missense	probably benign	0.05
R1129:Ccdc73	UTSW	2	104,822,535 (GRCm39)	missense	possibly damaging	0.51
R1240:Ccdc73	UTSW	2	104,821,906 (GRCm39)	missense	probably benign	0.05
R1478:Ccdc73	UTSW	2	104,745,012 (GRCm39)	missense	possibly damaging	0.93
R1478:Ccdc73	UTSW	2	104,737,955 (GRCm39)	missense	possibly damaging	0.72
R1695:Ccdc73	UTSW	2	104,822,450 (GRCm39)	missense	probably damaging	1.00
R1924:Ccdc73	UTSW	2	104,822,637 (GRCm39)	missense	probably damaging	1.00
R1950:Ccdc73	UTSW	2	104,757,280 (GRCm39)	missense	probably benign	0.01
R1987:Ccdc73	UTSW	2	104,829,504 (GRCm39)	missense	probably damaging	1.00
R1987:Ccdc73	UTSW	2	104,761,390 (GRCm39)	nonsense	probably null
R2938:Ccdc73	UTSW	2	104,805,980 (GRCm39)	nonsense	probably null
R3420:Ccdc73	UTSW	2	104,782,293 (GRCm39)	splice site	probably null
R3420:Ccdc73	UTSW	2	104,782,292 (GRCm39)	missense	probably null	1.00
R3422:Ccdc73	UTSW	2	104,782,293 (GRCm39)	splice site	probably null
R3422:Ccdc73	UTSW	2	104,782,292 (GRCm39)	missense	probably null	1.00
R3522:Ccdc73	UTSW	2	104,821,830 (GRCm39)	missense	probably damaging	1.00
R3886:Ccdc73	UTSW	2	104,821,688 (GRCm39)	missense	possibly damaging	0.94
R4279:Ccdc73	UTSW	2	104,815,355 (GRCm39)	missense	possibly damaging	0.87
R4791:Ccdc73	UTSW	2	104,811,450 (GRCm39)	splice site	probably null
R4793:Ccdc73	UTSW	2	104,848,127 (GRCm39)	splice site	probably null
R4939:Ccdc73	UTSW	2	104,822,502 (GRCm39)	splice site	probably null
R4950:Ccdc73	UTSW	2	104,822,711 (GRCm39)	missense	probably benign
R5093:Ccdc73	UTSW	2	104,848,111 (GRCm39)	utr 3 prime	probably benign
R5150:Ccdc73	UTSW	2	104,822,384 (GRCm39)	missense	probably benign	0.00
R5381:Ccdc73	UTSW	2	104,820,270 (GRCm39)	missense	probably damaging	1.00
R5738:Ccdc73	UTSW	2	104,761,331 (GRCm39)	missense	possibly damaging	0.78
R6148:Ccdc73	UTSW	2	104,822,482 (GRCm39)	missense	possibly damaging	0.58
R6269:Ccdc73	UTSW	2	104,737,978 (GRCm39)	missense	probably damaging	1.00
R6738:Ccdc73	UTSW	2	104,822,433 (GRCm39)	missense	probably benign	0.00
R6753:Ccdc73	UTSW	2	104,821,869 (GRCm39)	nonsense	probably null
R7062:Ccdc73	UTSW	2	104,782,223 (GRCm39)	missense	probably damaging	1.00
R7110:Ccdc73	UTSW	2	104,803,569 (GRCm39)	missense	probably benign	0.21
R7436:Ccdc73	UTSW	2	104,782,214 (GRCm39)	missense	probably damaging	1.00
R7530:Ccdc73	UTSW	2	104,824,915 (GRCm39)	missense
R7747:Ccdc73	UTSW	2	104,759,901 (GRCm39)	missense	probably damaging	1.00
R7952:Ccdc73	UTSW	2	104,775,801 (GRCm39)	critical splice donor site	probably null
R8178:Ccdc73	UTSW	2	104,821,557 (GRCm39)	missense	probably benign	0.00
R8824:Ccdc73	UTSW	2	104,822,222 (GRCm39)	missense	possibly damaging	0.74
R8927:Ccdc73	UTSW	2	104,822,542 (GRCm39)	missense
R8928:Ccdc73	UTSW	2	104,822,542 (GRCm39)	missense
R8945:Ccdc73	UTSW	2	104,821,712 (GRCm39)	missense	probably benign	0.03
R9365:Ccdc73	UTSW	2	104,738,011 (GRCm39)	missense	probably damaging	1.00
Z1177:Ccdc73	UTSW	2	104,822,584 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TGATCTCAACTGTGCAACAAAG -3'
(R):5'- CCAACAAACAGTGCTTTGAAGG -3'

Sequencing Primer
(F):5'- GCCATTCCCAGACAGTCAAGG -3'
(R):5'- CAAACAGTGCTTTGAAGGAAATAAAG -3'

Posted On

2019-06-26