Mutagenetix > Incidental Mutations

Incidental Mutation 'R7116:Coro1c'

551761

Institutional Source

Beutler Lab

Gene Symbol

Coro1c

Ensembl Gene

ENSMUSG00000004530

Gene Name

coronin, actin binding protein 1C

Synonyms

coronin 3

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7116 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

113842436-113908758 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 113852206 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Stop codon at position 138 (W138*)

Ref Sequence

ENSEMBL: ENSMUSP00000004646 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000004646] [ENSMUST00000164980]

AlphaFold

Q9WUM4

Predicted Effect

probably null
Transcript: ENSMUST00000004646
AA Change: W138*

SMART Domains

Protein: ENSMUSP00000004646
Gene: ENSMUSG00000004530
AA Change: W138*

Domain	Start	End	E-Value	Type
DUF1899	3	67	2.53e-36	SMART
WD40	66	109	3.99e-8	SMART
WD40	119	159	1.09e-5	SMART
WD40	162	202	3.09e-5	SMART
DUF1900	256	390	4.5e-92	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000164980
AA Change: W138*

SMART Domains

Protein: ENSMUSP00000129314
Gene: ENSMUSG00000004530
AA Change: W138*

Domain	Start	End	E-Value	Type
DUF1899	3	67	2.53e-36	SMART
WD40	66	109	3.99e-8	SMART
Pfam:WD40	120	149	8e-4	PFAM

Coding Region Coverage

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

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Feb 2013]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn1	A	G	12: 80,204,977	S109P	probably damaging	Het
Afg3l1	T	G	8: 123,489,862	L280R	probably damaging	Het
Akap13	T	A	7: 75,720,195	S129T	probably benign	Het
Ankrd11	A	G	8: 122,896,130	S328P	probably damaging	Het
Aox3	A	T	1: 58,153,530	E554D	probably benign	Het
Bcl11a	T	C	11: 24,163,839	V394A	probably damaging	Het
Cass4	A	G	2: 172,427,969	Y657C	unknown	Het
Ccdc88a	C	T	11: 29,504,051	A1738V	probably benign	Het
Cfap74	T	C	4: 155,455,061	F948L	unknown	Het
Chgb	A	T	2: 132,781,317		probably benign	Het
Dgkb	A	G	12: 37,981,990	Q17R	probably benign	Het
Esco2	A	G	14: 65,826,557	Y393H	probably damaging	Het
Eya3	T	A	4: 132,694,799	D228E	probably benign	Het
Fat2	T	C	11: 55,282,336	D2517G	probably damaging	Het
Fry	T	A	5: 150,395,869		probably null	Het
Gal3st2b	A	T	1: 93,940,776	Q243L	possibly damaging	Het
Gimap9	C	T	6: 48,678,055	A192V	probably benign	Het
Glg1	T	A	8: 111,178,957	Q564L	probably benign	Het
H2-Aa	A	T	17: 34,283,627	Y188*	probably null	Het
Hira	T	C	16: 18,912,114	Y188H	probably damaging	Het
Ighv8-8	C	T	12: 115,294,194	D76N	probably benign	Het
Irf6	T	C	1: 193,167,597	F276L	probably damaging	Het
Itpr1	T	C	6: 108,481,268	C2000R	probably damaging	Het
Jakmip3	T	C	7: 139,020,250	V293A	possibly damaging	Het
Kcnh7	A	G	2: 62,877,270	V132A	probably benign	Het
Kcnj1	A	G	9: 32,396,981	T234A	possibly damaging	Het
Kpna3	T	A	14: 61,368,186	N470I	probably benign	Het
Lamb2	T	C	9: 108,487,323	F1121L	probably damaging	Het
Lingo1	T	C	9: 56,620,627	D232G	probably benign	Het
Lpxn	T	A	19: 12,811,258	N70K	probably benign	Het
Ltbp4	T	A	7: 27,305,427	H1657L	probably damaging	Het
Luzp2	C	A	7: 55,265,330	F334L	possibly damaging	Het
Mgat5b	A	T	11: 116,944,959	S142C	possibly damaging	Het
Mroh7	G	A	4: 106,711,320	T396I	probably benign	Het
Muc5b	T	C	7: 141,863,750	S3478P	probably benign	Het
Nfatc2	A	T	2: 168,507,349	M626K	probably benign	Het
Nlrp14	A	G	7: 107,183,048	D484G	possibly damaging	Het
Npc1	T	C	18: 12,211,544	Y423C	probably damaging	Het
Nrsn1	A	G	13: 25,253,405	I180T	probably damaging	Het
Olfr570	T	A	7: 102,900,635	N89K	probably benign	Het
Olfr741	A	T	14: 50,485,568	I37F	probably benign	Het
Osbpl6	A	T	2: 76,595,881	I935F	probably benign	Het
Otog	T	C	7: 46,298,265	F96L	probably damaging	Het
Pde1b	T	C	15: 103,528,318	L534P	possibly damaging	Het
Pdzd8	C	T	19: 59,299,693	E1092K	probably damaging	Het
Pfkl	T	C	10: 78,001,415	H108R	probably benign	Het
Pkhd1l1	G	A	15: 44,557,976	V3047I	probably benign	Het
Plag1	A	T	4: 3,904,812	C126*	probably null	Het
Pphln1	T	A	15: 93,455,525	S229T	probably benign	Het
Pramel5	C	T	4: 144,273,881	D42N	possibly damaging	Het
Psd3	A	G	8: 67,713,738	V915A	probably benign	Het
Ptdss1	T	A	13: 66,945,327	I77N	probably benign	Het
Rsbn1	T	A	3: 103,914,576	C3*	probably null	Het
Shank1	C	T	7: 44,327,161	A561V	unknown	Het
Stip1	C	T	19: 7,021,810	G467S	possibly damaging	Het
Sv2c	A	T	13: 95,976,644	V599E	probably damaging	Het
Vmn2r37	T	C	7: 9,217,899	T322A	probably benign	Het
Vmn2r60	T	A	7: 42,137,063	M430K	probably benign	Het
Wipf3	T	A	6: 54,481,919		probably null	Het

Other mutations in Coro1c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01102:Coro1c	APN	5	113849614	missense	probably benign	0.07
IGL01138:Coro1c	APN	5	113852161	splice site	probably benign
IGL01474:Coro1c	APN	5	113882155	splice site	probably benign
IGL02075:Coro1c	APN	5	113844393	missense	probably damaging	1.00
IGL02106:Coro1c	APN	5	113852273	missense	probably benign	0.01
IGL02831:Coro1c	APN	5	113844408	missense	probably benign
R0254:Coro1c	UTSW	5	113845252	missense	probably benign	0.09
R0975:Coro1c	UTSW	5	113882121	missense	probably damaging	1.00
R1835:Coro1c	UTSW	5	113848543	missense	probably benign	0.10
R2944:Coro1c	UTSW	5	113850800	missense	probably damaging	1.00
R5210:Coro1c	UTSW	5	113845306	missense	probably damaging	1.00
R5354:Coro1c	UTSW	5	113846165	missense	possibly damaging	0.94
R5379:Coro1c	UTSW	5	113845382	missense	probably damaging	1.00
R5414:Coro1c	UTSW	5	113848546	missense	possibly damaging	0.55
R5869:Coro1c	UTSW	5	113850846	intron	probably benign
R5891:Coro1c	UTSW	5	113850811	missense	probably damaging	0.98
R7037:Coro1c	UTSW	5	113845396	missense	possibly damaging	0.60
R7536:Coro1c	UTSW	5	113845289	missense	probably damaging	1.00
R7855:Coro1c	UTSW	5	113848597	missense	probably benign	0.21
R8043:Coro1c	UTSW	5	113865759	splice site	silent
R8078:Coro1c	UTSW	5	113882103	missense	probably damaging	0.98
R8175:Coro1c	UTSW	5	113850815	missense	probably benign	0.04
R8267:Coro1c	UTSW	5	113847575	missense	probably damaging	1.00
R8560:Coro1c	UTSW	5	113846188	missense	probably damaging	1.00
R9012:Coro1c	UTSW	5	113850676	missense	probably damaging	0.99
R9229:Coro1c	UTSW	5	113865686	missense	probably damaging	1.00
R9355:Coro1c	UTSW	5	113865665	missense	probably damaging	1.00
X0018:Coro1c	UTSW	5	113848594	missense	probably benign	0.13
Z1088:Coro1c	UTSW	5	113850649	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- AACTTTGCCAGCAGGACAG -3'
(R):5'- TTAAATCAGGCACACAGTCGTCAC -3'

Sequencing Primer
(F):5'- TTGCCAGCAGGACAGTGTGG -3'
(R):5'- AGTCGTCACCTGCGCCTTAG -3'

Posted On

2019-05-15