Mutagenetix > Incidental Mutation

Incidental Mutation 'R1275:Coro1a'

150864

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

039341-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1275 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

126298946-126303925 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to T at 126299755 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000134123 (fasta)

Gene Model

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

AlphaFold

O89053

Predicted Effect

probably null
Transcript: ENSMUST00000032949

SMART Domains

Protein: ENSMUSP00000032949
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
DUF1900	258	392	1.23e-89	SMART
PDB:2AKF\|C	430	461	3e-13	PDB

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000052145

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000084586

Predicted Effect

probably null
Transcript: ENSMUST00000106364

SMART Domains

Protein: ENSMUSP00000101972
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
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 null
Transcript: ENSMUST00000173108

SMART Domains

Protein: ENSMUSP00000134123
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
DUF1900	258	365	3.06e-53	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000173108

SMART Domains

Protein: ENSMUSP00000134123
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
DUF1900	258	365	3.06e-53	SMART

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: ENSMUST00000205515

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144571

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155012

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

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: ENSMUST00000142337

SMART Domains

Protein: ENSMUSP00000117927
Gene: ENSMUSG00000059772

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

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: 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

Coding Region Coverage

1x: 99.0%
3x: 98.3%
10x: 96.3%
20x: 92.6%

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: 17 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cdhr18	T	C	14: 13,896,949 (GRCm38)	Y142C	probably damaging	Het
Clstn2	C	T	9: 97,339,483 (GRCm39)	V793I	probably benign	Het
Dync1h1	G	A	12: 110,602,943 (GRCm39)	E2195K	probably benign	Het
Efcab14	T	G	4: 115,613,670 (GRCm39)	L206R	probably damaging	Het
Ehmt1	A	G	2: 24,777,007 (GRCm39)		probably null	Het
Fosl2	C	T	5: 32,307,798 (GRCm39)	R130W	probably damaging	Het
Gfral	A	G	9: 76,104,314 (GRCm39)	C233R	probably damaging	Het
Ino80	T	C	2: 119,257,536 (GRCm39)	T765A	probably benign	Het
Mindy3	A	T	2: 12,400,984 (GRCm39)		probably null	Het
Myo15b	CGGAGGAGGAGGAGGAGGAG	CGGAGGAGGAGGAGGAG	11: 115,774,318 (GRCm39)		probably benign	Het
Nup50l	T	C	6: 96,142,099 (GRCm39)	E315G	probably benign	Het
Osbpl11	T	A	16: 33,006,220 (GRCm39)	M16K	probably benign	Het
Rassf7	T	A	7: 140,797,060 (GRCm39)	L91Q	probably damaging	Het
Shld1	T	C	2: 132,534,015 (GRCm39)	S48P	probably benign	Het
Unc13b	A	G	4: 43,235,366 (GRCm39)	K3318R	probably damaging	Het
Vmn1r234	CTT	CTTT	17: 21,449,513 (GRCm39)		probably null	Het
Zfp930	A	G	8: 69,680,631 (GRCm39)	K108E	possibly damaging	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
R0394:Coro1a	UTSW	7	126,299,812 (GRCm39)	missense	probably benign	0.01
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'- GCCAGGTGACTGACTCCTAATTGAC -3'

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

Posted On

2014-01-29