Mutagenetix > Incidental Mutation

Incidental Mutation 'R0394:Coro1a'

31866

Institutional Source

Beutler Lab

Gene Symbol

Coro1a

Ensembl Gene

ENSMUSG00000030707

Gene Name

coronin, actin binding protein 1A

Synonyms

coronin 1, Lmb3, Clabp, p57

MMRRC Submission

038600-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0394 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

126298946-126303925 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 126299812 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 337 (F337L)

Ref Sequence

ENSEMBL: ENSMUSP00000134123 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032949] [ENSMUST00000106364] [ENSMUST00000106369] [ENSMUST00000130498] [ENSMUST00000173108] [ENSMUST00000205515] [ENSMUST00000131415] [ENSMUST00000173116] [ENSMUST00000144897] [ENSMUST00000135087] [ENSMUST00000142337]

AlphaFold

O89053

Predicted Effect

probably benign
Transcript: ENSMUST00000032949
AA Change: F337L

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

SMART Domains

Protein: ENSMUSP00000032949
Gene: ENSMUSG00000030707
AA Change: F337L

Domain	Start	End	E-Value	Type
DUF1899	4	68	1.6e-33	SMART
WD40	67	110	1.39e-7	SMART
WD40	120	160	2.42e-7	SMART
WD40	163	204	6.09e-4	SMART
DUF1900	258	392	1.23e-89	SMART
PDB:2AKF\|C	430	461	3e-13	PDB

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000052145

Predicted Effect

probably benign
Transcript: ENSMUST00000106364
AA Change: F337L

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

SMART Domains

Protein: ENSMUSP00000101972
Gene: ENSMUSG00000030707
AA Change: F337L

Domain	Start	End	E-Value	Type
DUF1899	4	68	1.6e-33	SMART
WD40	67	110	1.39e-7	SMART
WD40	120	160	2.42e-7	SMART
WD40	163	204	6.09e-4	SMART
DUF1900	258	392	1.23e-89	SMART
Pfam:Trimer_CC	410	461	4.1e-32	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106369

SMART Domains

Protein: ENSMUSP00000101977
Gene: ENSMUSG00000047721

Domain	Start	End	E-Value	Type
Pfam:BolA	10	54	4.7e-12	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123511

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126193

Predicted Effect

probably benign
Transcript: ENSMUST00000130498

SMART Domains

Protein: ENSMUSP00000114873
Gene: ENSMUSG00000047721

Domain	Start	End	E-Value	Type
Pfam:BolA	12	79	1.2e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000173108
AA Change: F337L

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000134123
Gene: ENSMUSG00000030707
AA Change: F337L

Domain	Start	End	E-Value	Type
DUF1899	4	68	1.6e-33	SMART
WD40	67	110	1.39e-7	SMART
WD40	120	160	2.42e-7	SMART
WD40	163	204	6.09e-4	SMART
DUF1900	258	365	3.06e-53	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133718

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174579

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206275

Predicted Effect

probably benign
Transcript: ENSMUST00000205515

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155012

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144571

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140896

Predicted Effect

probably benign
Transcript: ENSMUST00000131415

SMART Domains

Protein: ENSMUSP00000117931
Gene: ENSMUSG00000030707

Domain	Start	End	E-Value	Type
DUF1899	4	68	1.6e-33	SMART
WD40	67	110	1.39e-7	SMART
WD40	120	160	2.42e-7	SMART
WD40	163	204	6.09e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000173116

SMART Domains

Protein: ENSMUSP00000133555
Gene: ENSMUSG00000030707

Domain	Start	End	E-Value	Type
DUF1899	4	68	1.6e-33	SMART
WD40	67	110	1.39e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000144897

SMART Domains

Protein: ENSMUSP00000118182
Gene: ENSMUSG00000059772

Domain	Start	End	E-Value	Type
GIYc	10	112	1.14e-3	SMART
low complexity region	152	163	N/A	INTRINSIC
low complexity region	194	205	N/A	INTRINSIC
low complexity region	214	229	N/A	INTRINSIC
low complexity region	250	270	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000135087

SMART Domains

Protein: ENSMUSP00000115960
Gene: ENSMUSG00000030707

Domain	Start	End	E-Value	Type
DUF1899	4	68	1.6e-33	SMART
WD40	67	110	1.39e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000142337

SMART Domains

Protein: ENSMUSP00000117927
Gene: ENSMUSG00000059772

Domain	Start	End	E-Value	Type
Pfam:GIY-YIG	10	58	1.5e-10	PFAM

Meta Mutation Damage Score

0.3117

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 92.0%

Validation Efficiency

99% (79/80)

MGI Phenotype

FUNCTION: This gene encodes a member of the WD repeat coronin family. The encoded protein may bind actin and interact with microtubules. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014]
PHENOTYPE: Mice homozygous for null or hypomorph alleles of this gene display lower peripheral T cell counts resulting from defects in T cell migration and increased rates of apoptosis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	C	A	3: 137,773,065 (GRCm39)	S751R	probably damaging	Het
Abca8a	A	G	11: 109,917,169 (GRCm39)	V1610A	probably damaging	Het
Actl10	A	T	2: 154,394,957 (GRCm39)	H202L	probably benign	Het
Alox12	A	T	11: 70,136,761 (GRCm39)	V489E	probably damaging	Het
Ap4m1	T	A	5: 138,170,465 (GRCm39)	F5I	probably benign	Het
Atn1	T	C	6: 124,726,696 (GRCm39)		probably benign	Het
Atrnl1	T	A	19: 57,661,608 (GRCm39)	N529K	probably benign	Het
B3gntl1	C	T	11: 121,510,541 (GRCm39)	G336D	probably damaging	Het
Bmp1	G	A	14: 70,727,474 (GRCm39)	A703V	probably damaging	Het
Brat1	T	G	5: 140,704,141 (GRCm39)	L798R	probably damaging	Het
Cacna1c	C	T	6: 118,602,458 (GRCm39)	G1302R	probably damaging	Het
Cdr2	A	T	7: 120,557,954 (GRCm39)	D190E	probably benign	Het
Cenpe	T	C	3: 134,922,186 (GRCm39)		probably benign	Het
Clstn1	A	G	4: 149,728,635 (GRCm39)	D687G	probably benign	Het
Ddx49	T	A	8: 70,749,575 (GRCm39)	I252F	probably damaging	Het
Dennd2a	T	A	6: 39,499,746 (GRCm39)	D273V	possibly damaging	Het
Derl2	A	T	11: 70,905,387 (GRCm39)	F32I	probably benign	Het
Dmrta1	A	G	4: 89,580,276 (GRCm39)	Y412C	probably damaging	Het
Dsg1a	A	G	18: 20,466,807 (GRCm39)	N559S	probably damaging	Het
Dusp26	G	T	8: 31,581,987 (GRCm39)	R27L	probably benign	Het
Eif2ak3	T	C	6: 70,862,202 (GRCm39)	I492T	probably benign	Het
Exoc7	G	T	11: 116,191,224 (GRCm39)	Q219K	probably damaging	Het
F2r	T	C	13: 95,740,984 (GRCm39)	T184A	probably damaging	Het
Fbf1	G	A	11: 116,043,288 (GRCm39)		probably benign	Het
Fbxo28	A	G	1: 182,144,580 (GRCm39)	M328T	probably benign	Het
Fsip2	T	A	2: 82,821,419 (GRCm39)	D5717E	possibly damaging	Het
Gnpat	C	A	8: 125,606,964 (GRCm39)	S373R	possibly damaging	Het
Golgb1	G	T	16: 36,695,941 (GRCm39)		probably benign	Het
Greb1l	T	C	18: 10,523,374 (GRCm39)	V844A	probably damaging	Het
Hps1	G	T	19: 42,759,338 (GRCm39)		probably null	Het
Inppl1	G	T	7: 101,477,402 (GRCm39)		probably benign	Het
Isca1	C	T	13: 59,906,699 (GRCm39)		probably null	Het
Itgb2	T	A	10: 77,378,309 (GRCm39)	C46S	probably damaging	Het
Kifc5b	C	T	17: 27,142,056 (GRCm39)	T178M	probably benign	Het
Krt80	T	C	15: 101,250,180 (GRCm39)	T22A	probably damaging	Het
L3mbtl2	C	T	15: 81,552,942 (GRCm39)	A125V	probably damaging	Het
Ltbp2	C	T	12: 84,853,198 (GRCm39)		probably benign	Het
Mettl18	A	G	1: 163,823,910 (GRCm39)	D77G	probably benign	Het
Mfsd2a	A	G	4: 122,843,961 (GRCm39)	L336P	probably benign	Het
Mgat4b	A	G	11: 50,121,746 (GRCm39)		probably null	Het
Mtmr14	C	T	6: 113,257,649 (GRCm39)	R233*	probably null	Het
Nbea	T	C	3: 55,937,328 (GRCm39)	Y761C	probably damaging	Het
Neb	A	T	2: 52,067,571 (GRCm39)		probably null	Het
Nup85	T	G	11: 115,455,357 (GRCm39)	M1R	probably null	Het
Obi1	T	C	14: 104,716,289 (GRCm39)	R695G	possibly damaging	Het
Or6c70	T	A	10: 129,709,811 (GRCm39)	I272L	probably benign	Het
Oxr1	T	A	15: 41,680,593 (GRCm39)	M177K	probably damaging	Het
Pgm2l1	A	G	7: 99,901,405 (GRCm39)	Y98C	probably damaging	Het
Pi4kb	G	T	3: 94,904,115 (GRCm39)		probably benign	Het
Pi4kb	G	A	3: 94,904,116 (GRCm39)		probably benign	Het
Pirb	T	A	7: 3,722,247 (GRCm39)	S199C	probably benign	Het
Prss23	A	C	7: 89,159,055 (GRCm39)	I338S	probably damaging	Het
Rapgef3	A	T	15: 97,655,700 (GRCm39)		probably benign	Het
Rdh7	T	A	10: 127,720,539 (GRCm39)	T278S	probably benign	Het
Rrp1b	A	G	17: 32,277,538 (GRCm39)	D606G	probably benign	Het
Rxfp1	T	A	3: 79,559,684 (GRCm39)	Y379F	possibly damaging	Het
Rxfp2	T	C	5: 149,990,853 (GRCm39)	V514A	probably benign	Het
Scel	A	T	14: 103,799,954 (GRCm39)	E202V	probably benign	Het
Slc25a36	G	A	9: 96,962,257 (GRCm39)	A244V	probably benign	Het
Slc2a13	T	G	15: 91,400,595 (GRCm39)	Q209P	probably damaging	Het
Slc38a6	A	G	12: 73,399,304 (GRCm39)	N456S	probably benign	Het
Slc6a12	G	T	6: 121,323,957 (GRCm39)		probably null	Het
Spag6l	T	C	16: 16,598,493 (GRCm39)	I333V	probably benign	Het
Spen	G	A	4: 141,201,514 (GRCm39)	A2371V	probably benign	Het
St6galnac1	T	C	11: 116,657,466 (GRCm39)	D366G	probably damaging	Het
Stk33	T	C	7: 108,940,696 (GRCm39)	S5G	probably benign	Het
Tex56	T	C	13: 35,116,636 (GRCm39)		probably benign	Het
Tle2	T	C	10: 81,413,482 (GRCm39)	L84P	probably damaging	Het
Tmem14a	T	C	1: 21,296,876 (GRCm39)	M78T	probably damaging	Het
Top2b	T	A	14: 16,413,556 (GRCm38)		probably null	Het
Trmt13	A	G	3: 116,376,299 (GRCm39)	F364S	probably damaging	Het
Unkl	T	A	17: 25,449,751 (GRCm39)		probably null	Het
Uvrag	A	G	7: 98,653,926 (GRCm39)		probably benign	Het
Vmn2r8	T	A	5: 108,949,938 (GRCm39)	N303I	probably benign	Het
Vsig10l	A	G	7: 43,114,879 (GRCm39)	N360S	probably damaging	Het
Zdhhc25	T	C	15: 88,485,123 (GRCm39)	Y153H	probably damaging	Het
Zfp646	T	C	7: 127,482,434 (GRCm39)	V1537A	possibly damaging	Het
Zfp664	T	A	5: 124,963,129 (GRCm39)	Y174*	probably null	Het

Other mutations in Coro1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01445:Coro1a	APN	7	126,300,701 (GRCm39)	missense	probably benign	0.00
IGL02307:Coro1a	APN	7	126,300,736 (GRCm39)	missense	probably damaging	1.00
IGL02380:Coro1a	APN	7	126,302,288 (GRCm39)	nonsense	probably null
Chase	UTSW	7	126,299,772 (GRCm39)	missense	probably benign	0.03
coralina	UTSW	7	126,302,221 (GRCm39)	missense	probably damaging	1.00
holiday	UTSW	7	126,299,816 (GRCm39)	splice site	probably null
proba	UTSW	7	126,301,024 (GRCm39)	missense	probably damaging	0.99
R0009:Coro1a	UTSW	7	126,300,585 (GRCm39)	splice site	probably benign
R0009:Coro1a	UTSW	7	126,300,585 (GRCm39)	splice site	probably benign
R1275:Coro1a	UTSW	7	126,299,755 (GRCm39)	critical splice donor site	probably null
R1552:Coro1a	UTSW	7	126,299,124 (GRCm39)	missense	probably benign	0.13
R1598:Coro1a	UTSW	7	126,300,864 (GRCm39)	missense	possibly damaging	0.71
R1618:Coro1a	UTSW	7	126,300,719 (GRCm39)	missense	probably benign	0.05
R2116:Coro1a	UTSW	7	126,301,194 (GRCm39)	missense	probably damaging	1.00
R4591:Coro1a	UTSW	7	126,302,164 (GRCm39)	missense	probably damaging	1.00
R5159:Coro1a	UTSW	7	126,302,221 (GRCm39)	missense	probably damaging	1.00
R5261:Coro1a	UTSW	7	126,299,816 (GRCm39)	splice site	probably null
R6002:Coro1a	UTSW	7	126,302,252 (GRCm39)	missense	probably benign	0.00
R7237:Coro1a	UTSW	7	126,299,478 (GRCm39)	missense	probably benign
R7560:Coro1a	UTSW	7	126,302,306 (GRCm39)	missense	probably damaging	0.99
R7956:Coro1a	UTSW	7	126,300,727 (GRCm39)	missense	probably benign	0.30
R8543:Coro1a	UTSW	7	126,301,188 (GRCm39)	missense	probably damaging	0.99
R9037:Coro1a	UTSW	7	126,299,772 (GRCm39)	missense	probably benign	0.03
RF007:Coro1a	UTSW	7	126,301,024 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CTCTCCCCATGAGACATTGAGCAC -3'
(R):5'- TGGTATGGGCTACATGCCCAAAC -3'

Sequencing Primer
(F):5'- TTGAGCACATCCATGCAGG -3'
(R):5'- CCAAACGTGGCCTGGAAG -3'

Posted On

2013-04-24