Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01445:Coro1a'

84383

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Coro1a

Ensembl Gene

ENSMUSG00000030707

Gene Name

coronin, actin binding protein 1A

Synonyms

coronin 1, Lmb3, Clabp, p57

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01445

Quality Score

Status

Chromosome

Chromosomal Location

126298946-126303925 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 126300701 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 168 (T168A)

Ref Sequence

ENSEMBL: ENSMUSP00000146177 (fasta)

Gene Model

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

AlphaFold

O89053

Predicted Effect

probably benign
Transcript: ENSMUST00000032949
AA Change: T209A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000032949
Gene: ENSMUSG00000030707
AA Change: T209A

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: T209A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000101972
Gene: ENSMUSG00000030707
AA Change: T209A

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: ENSMUST00000131415
AA Change: T209A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000117931
Gene: ENSMUSG00000030707
AA Change: T209A

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: ENSMUST00000173108
AA Change: T209A

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

SMART Domains

Protein: ENSMUSP00000134123
Gene: ENSMUSG00000030707
AA Change: T209A

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

probably benign
Transcript: ENSMUST00000205515
AA Change: T168A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144571

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133718

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174579

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140896

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206275

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: 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

Coding Region Coverage

Validation Efficiency

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: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1cf	A	G	19: 31,923,198 (GRCm39)	I499M	probably benign	Het
Aldh1l2	A	T	10: 83,356,126 (GRCm39)		probably benign	Het
Arid3a	A	G	10: 79,786,468 (GRCm39)	D407G	probably damaging	Het
Aunip	A	G	4: 134,250,318 (GRCm39)	T88A	probably benign	Het
Blzf1	A	T	1: 164,130,189 (GRCm39)	N47K	possibly damaging	Het
Cd177	G	T	7: 24,451,496 (GRCm39)	T469N	possibly damaging	Het
Cep70	C	T	9: 99,180,553 (GRCm39)		probably benign	Het
Cntn5	T	C	9: 9,693,489 (GRCm39)		probably benign	Het
Cntnap2	C	T	6: 47,169,947 (GRCm39)	H1138Y	probably benign	Het
Coa5	G	A	1: 37,459,659 (GRCm39)		probably benign	Het
Ecpas	T	C	4: 58,833,988 (GRCm39)	T831A	probably benign	Het
Fbxo43	A	G	15: 36,151,972 (GRCm39)	Y582H	probably damaging	Het
Lyst	T	C	13: 13,826,299 (GRCm39)	V1602A	probably benign	Het
Nbeal1	G	T	1: 60,281,784 (GRCm39)		probably null	Het
Or4d5	C	T	9: 40,012,608 (GRCm39)	M59I	probably benign	Het
Or52a33	A	G	7: 103,289,039 (GRCm39)	Y103H	probably damaging	Het
Pprc1	C	T	19: 46,053,671 (GRCm39)		probably benign	Het
Prom2	T	C	2: 127,381,433 (GRCm39)		probably benign	Het
Slc9a2	A	G	1: 40,757,970 (GRCm39)	I170V	possibly damaging	Het
Sorcs1	T	C	19: 50,141,504 (GRCm39)	Y1120C	probably damaging	Het
Tmem63a	C	T	1: 180,774,196 (GRCm39)	R18C	probably damaging	Het
Tnk1	A	T	11: 69,746,731 (GRCm39)		probably benign	Het
Top2a	A	T	11: 98,901,856 (GRCm39)	L458Q	probably damaging	Het
Tpsg1	C	A	17: 25,591,472 (GRCm39)	S24*	probably null	Het
Vmn2r72	T	C	7: 85,398,854 (GRCm39)	M500V	probably benign	Het

Other mutations in Coro1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R0394:Coro1a	UTSW	7	126,299,812 (GRCm39)	missense	probably benign	0.01
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

Posted On

2013-11-11