Mutagenetix > Incidental Mutation

Incidental Mutation 'R1240:Ccdc73'

151914

Institutional Source

Beutler Lab

Gene Symbol

Ccdc73

Ensembl Gene

ENSMUSG00000045106

Gene Name

coiled-coil domain containing 73

Synonyms

2210415I11Rik

MMRRC Submission

039307-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R1240 (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 104991561 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 618 (E618D)

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: E618D

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000106743
Gene: ENSMUSG00000045106
AA Change: E618D

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: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb9	T	G	5: 124,089,921	I86L	probably benign	Het
Ankfn1	A	G	11: 89,392,134	L229P	probably damaging	Het
Aoc1	T	C	6: 48,905,615	S164P	probably benign	Het
Arhgef28	C	T	13: 97,929,492	V1618I	probably benign	Het
Arpc3	T	C	5: 122,404,179	F88S	probably damaging	Het
Asgr2	G	T	11: 70,096,850	R58L	possibly damaging	Het
Bach2	T	C	4: 32,563,198	F432S	probably damaging	Het
Brms1l	C	A	12: 55,844,508	R116S	probably damaging	Het
Casp2	T	A	6: 42,268,945	C179S	probably damaging	Het
Cdh6	T	A	15: 13,057,455	D260V	possibly damaging	Het
Cenpc1	G	T	5: 86,035,510	N473K	probably benign	Het
Chst2	T	C	9: 95,405,483	E270G	possibly damaging	Het
Chst9	C	T	18: 15,453,174	E111K	probably benign	Het
Cyp3a44	T	G	5: 145,774,440	I474L	probably benign	Het
Dbr1	G	T	9: 99,584,020	E550D	probably benign	Het
Dirc2	A	G	16: 35,698,009	F445L	probably benign	Het
Dph6	T	C	2: 114,644,718		probably null	Het
Fam227b	T	A	2: 126,124,585	I136L	possibly damaging	Het
Fam46b	T	C	4: 133,486,504	F229L	probably benign	Het
Fcgbp	A	G	7: 28,120,525	N2559S	probably damaging	Het
Fh1	A	T	1: 175,604,015	I435N	probably damaging	Het
Gab1	A	C	8: 80,788,530	S386R	probably damaging	Het
Gkn1	T	A	6: 87,349,116	N31Y	probably damaging	Het
Grk2	A	G	19: 4,290,679	C251R	probably damaging	Het
H2-DMa	G	T	17: 34,138,406		probably null	Het
Hp1bp3	T	C	4: 138,229,698	S63P	probably damaging	Het
Ift74	A	G	4: 94,692,937		probably null	Het
Inf2	G	A	12: 112,610,776	R1018Q	unknown	Het
Kat2b	A	G	17: 53,624,397	D141G	probably benign	Het
Klhl30	T	C	1: 91,361,015	S499P	probably benign	Het
Lama2	A	C	10: 27,041,124	D2268E	probably damaging	Het
Lsmem1	GTACATACATACATACATACATACATACA	GTACATACATACATACATACATACATACATACA	12: 40,185,261		probably null	Het
Marf1	T	C	16: 14,146,762	N258S	possibly damaging	Het
Mc1r	T	A	8: 123,408,260	C251S	probably damaging	Het
Myo15b	C	A	11: 115,880,501	Q257K	possibly damaging	Het
Nbeal2	A	G	9: 110,627,108	F2431S	probably damaging	Het
Neb	T	A	2: 52,296,309	H917L	possibly damaging	Het
Nlrp1a	A	G	11: 71,113,466		probably null	Het
Nr1d2	A	T	14: 18,211,891	M404K	probably benign	Het
Olfr32	T	G	2: 90,138,813	I109L	possibly damaging	Het
Olfr52	T	G	2: 86,182,109	M1L	possibly damaging	Het
Otoa	T	C	7: 121,156,490	S1040P	probably benign	Het
Pctp	T	C	11: 90,002,814	D10G	probably benign	Het
Pja2	G	T	17: 64,309,618	T94K	probably benign	Het
Plxna1	C	T	6: 89,321,050	V1749M	probably damaging	Het
Prdm15	C	T	16: 97,837,600	E87K	probably damaging	Het
Rgsl1	A	G	1: 153,785,191	F1028L	probably benign	Het
Sepsecs	T	C	5: 52,660,679	N252S	probably damaging	Het
Skint5	A	T	4: 113,717,107	L749Q	unknown	Het
Slc22a22	G	A	15: 57,250,872	S353F	probably benign	Het
Slc7a13	A	T	4: 19,819,212	K137N	probably damaging	Het
Snx13	G	T	12: 35,091,406	V163L	probably damaging	Het
Synrg	A	T	11: 84,023,356	T1115S	probably damaging	Het
Tenm3	A	G	8: 48,287,893	V1185A	possibly damaging	Het
Tg	T	A	15: 66,828,548	N118K	probably benign	Het
Top1mt	T	C	15: 75,670,067	K153E	probably damaging	Het
Trmt11	T	C	10: 30,590,825		probably benign	Het
Unc80	A	G	1: 66,635,902	D1953G	possibly damaging	Het
Vmn2r25	T	A	6: 123,851,905	S137C	probably damaging	Het
Vwf	C	A	6: 125,603,308		probably null	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
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
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'- TCTGGACACTCGAAGTAACAAAGCATC -3'
(R):5'- GACACTCACACTACTTTCTGAAGCTCC -3'

Sequencing Primer
(F):5'- GAAGTAACAAAGCATCCTCTAATGG -3'
(R):5'- GAAGCTCCCAGATGGTTCCTAAG -3'

Posted On

2014-01-29