Incidental Mutation 'IGL02380:Coro1a'
| ID |
291331 |
| 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)
|
| Stock # |
IGL02380
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
126298946-126303925 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 126302288 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Stop codon
at position 20
(K20*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146177
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032949]
[ENSMUST00000106364]
[ENSMUST00000131415]
[ENSMUST00000135087]
[ENSMUST00000173116]
[ENSMUST00000173108]
[ENSMUST00000205515]
|
| AlphaFold |
O89053 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000032949
AA Change: K20*
|
| SMART Domains |
Protein: ENSMUSP00000032949
Gene: ENSMUSG00000030707
AA Change: K20*
| 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 |
probably null
Transcript: ENSMUST00000106364
AA Change: K20*
|
| SMART Domains |
Protein: ENSMUSP00000101972
Gene: ENSMUSG00000030707
AA Change: K20*
| 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 |
noncoding transcript
Transcript: ENSMUST00000123511
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126193
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000131415
AA Change: K20*
|
| SMART Domains |
Protein: ENSMUSP00000117931
Gene: ENSMUSG00000030707
AA Change: K20*
| 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 |
noncoding transcript
Transcript: ENSMUST00000133718
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000135087
AA Change: K20*
|
| SMART Domains |
Protein: ENSMUSP00000115960
Gene: ENSMUSG00000030707
AA Change: K20*
| Domain | Start | End | E-Value | Type |
|---|
|
DUF1899
|
4 |
68 |
1.6e-33 |
SMART |
|
WD40
|
67 |
110 |
1.39e-7 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000173116
AA Change: K20*
|
| SMART Domains |
Protein: ENSMUSP00000133555
Gene: ENSMUSG00000030707
AA Change: K20*
| Domain | Start | End | E-Value | Type |
|---|
|
DUF1899
|
4 |
68 |
1.6e-33 |
SMART |
|
WD40
|
67 |
110 |
1.39e-7 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000173108
AA Change: K20*
|
| SMART Domains |
Protein: ENSMUSP00000134123
Gene: ENSMUSG00000030707
AA Change: K20*
| 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: ENSMUST00000205515
AA Change: K20*
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206275
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140896
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174579
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930433I11Rik |
C |
A |
7: 40,643,968 (GRCm39) |
P546T |
possibly damaging |
Het |
| Abca13 |
T |
C |
11: 9,241,599 (GRCm39) |
I1154T |
possibly damaging |
Het |
| Abca8a |
A |
G |
11: 109,969,641 (GRCm39) |
|
probably benign |
Het |
| Acsm5 |
A |
T |
7: 119,136,509 (GRCm39) |
Q360L |
probably benign |
Het |
| Adamtsl5 |
T |
C |
10: 80,177,612 (GRCm39) |
E350G |
probably benign |
Het |
| Adgrl2 |
A |
T |
3: 148,534,125 (GRCm39) |
L1017* |
probably null |
Het |
| Aqr |
T |
C |
2: 113,940,417 (GRCm39) |
D1243G |
probably damaging |
Het |
| Arhgef17 |
G |
T |
7: 100,578,650 (GRCm39) |
P766Q |
possibly damaging |
Het |
| Bclaf1 |
T |
C |
10: 20,201,113 (GRCm39) |
V413A |
possibly damaging |
Het |
| Bcr |
A |
G |
10: 75,011,131 (GRCm39) |
D14G |
probably benign |
Het |
| Cadps2 |
C |
T |
6: 23,287,731 (GRCm39) |
V1190I |
probably benign |
Het |
| Cdh9 |
A |
G |
15: 16,856,086 (GRCm39) |
I709V |
possibly damaging |
Het |
| Cnbd1 |
C |
A |
4: 18,887,748 (GRCm39) |
|
probably null |
Het |
| Cnbd1 |
T |
A |
4: 18,887,749 (GRCm39) |
|
probably null |
Het |
| Col4a3 |
T |
C |
1: 82,650,509 (GRCm39) |
|
probably benign |
Het |
| Crb2 |
T |
A |
2: 37,673,447 (GRCm39) |
D114E |
probably damaging |
Het |
| Dnah6 |
C |
A |
6: 73,053,623 (GRCm39) |
K2870N |
probably benign |
Het |
| Fpr3 |
A |
G |
17: 18,191,254 (GRCm39) |
H175R |
probably benign |
Het |
| Gk5 |
T |
G |
9: 96,032,533 (GRCm39) |
S248A |
possibly damaging |
Het |
| Grm4 |
T |
A |
17: 27,653,635 (GRCm39) |
I772F |
probably damaging |
Het |
| Gstt4 |
A |
G |
10: 75,653,073 (GRCm39) |
I163T |
possibly damaging |
Het |
| Hr |
A |
G |
14: 70,795,201 (GRCm39) |
R278G |
probably damaging |
Het |
| Igfbp5 |
T |
A |
1: 72,903,108 (GRCm39) |
R156* |
probably null |
Het |
| Ighv1-4 |
G |
A |
12: 114,450,753 (GRCm39) |
|
probably benign |
Het |
| Insyn2a |
A |
T |
7: 134,500,873 (GRCm39) |
|
probably null |
Het |
| Kcna2 |
A |
C |
3: 107,012,274 (GRCm39) |
Q285P |
probably benign |
Het |
| Klf5 |
A |
T |
14: 99,538,894 (GRCm39) |
R102S |
possibly damaging |
Het |
| Ldb1 |
A |
T |
19: 46,022,929 (GRCm39) |
M252K |
possibly damaging |
Het |
| Lrrc66 |
T |
C |
5: 73,787,009 (GRCm39) |
I114V |
possibly damaging |
Het |
| Map1b |
A |
T |
13: 99,567,651 (GRCm39) |
I1690N |
unknown |
Het |
| Myo1a |
A |
G |
10: 127,550,354 (GRCm39) |
T565A |
probably benign |
Het |
| Nt5c |
T |
C |
11: 115,382,127 (GRCm39) |
D84G |
possibly damaging |
Het |
| Pde1b |
A |
G |
15: 103,428,417 (GRCm39) |
N51S |
possibly damaging |
Het |
| Pikfyve |
T |
A |
1: 65,295,180 (GRCm39) |
L1437Q |
probably damaging |
Het |
| Pld5 |
C |
T |
1: 175,967,610 (GRCm39) |
V82I |
probably damaging |
Het |
| Psmb6 |
T |
A |
11: 70,416,737 (GRCm39) |
N42K |
probably benign |
Het |
| Slco3a1 |
G |
A |
7: 74,204,238 (GRCm39) |
S34F |
probably damaging |
Het |
| Slfn9 |
A |
G |
11: 82,872,046 (GRCm39) |
Y897H |
probably benign |
Het |
| Spag6l |
T |
C |
16: 16,581,033 (GRCm39) |
|
probably null |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Tmem215 |
A |
T |
4: 40,474,534 (GRCm39) |
I204F |
probably benign |
Het |
| Txnl1 |
A |
G |
18: 63,807,114 (GRCm39) |
|
probably null |
Het |
| Ube2q2 |
T |
A |
9: 55,070,296 (GRCm39) |
D79E |
probably benign |
Het |
| Ugt2a3 |
T |
C |
5: 87,484,658 (GRCm39) |
D122G |
probably benign |
Het |
| Vmn2r73 |
A |
T |
7: 85,507,383 (GRCm39) |
I643K |
probably benign |
Het |
| Xkrx |
T |
A |
X: 133,051,388 (GRCm39) |
H421L |
probably benign |
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 |
|
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 |
2015-04-16 |
Incidental Mutation