Incidental Mutation 'R5159:Coro1a'
| ID |
396876 |
| 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 |
042741-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5159 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
126298946-126303925 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 126302221 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 42
(V42D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133555
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032949]
[ENSMUST00000106364]
[ENSMUST00000131415]
[ENSMUST00000135087]
[ENSMUST00000173108]
[ENSMUST00000173116]
[ENSMUST00000205515]
|
| AlphaFold |
O89053 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000032949
AA Change: V42D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000032949
Gene: ENSMUSG00000030707
AA Change: V42D
| 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 damaging
Transcript: ENSMUST00000106364
AA Change: V42D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000101972
Gene: ENSMUSG00000030707
AA Change: V42D
| 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 damaging
Transcript: ENSMUST00000131415
AA Change: V42D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000117931
Gene: ENSMUSG00000030707
AA Change: V42D
| 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 damaging
Transcript: ENSMUST00000135087
AA Change: V42D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000115960
Gene: ENSMUSG00000030707
AA Change: V42D
| Domain | Start | End | E-Value | Type |
|---|
|
DUF1899
|
4 |
68 |
1.6e-33 |
SMART |
|
WD40
|
67 |
110 |
1.39e-7 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000173108
AA Change: V42D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000134123
Gene: ENSMUSG00000030707
AA Change: V42D
| 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 damaging
Transcript: ENSMUST00000173116
AA Change: V42D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000133555
Gene: ENSMUSG00000030707
AA Change: V42D
| Domain | Start | End | E-Value | Type |
|---|
|
DUF1899
|
4 |
68 |
1.6e-33 |
SMART |
|
WD40
|
67 |
110 |
1.39e-7 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000205515
AA Change: V42D
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140896
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206275
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174579
|
| Meta Mutation Damage Score |
0.9651 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.7%
|
| Validation Efficiency |
100% (63/63) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930111J21Rik1 |
T |
C |
11: 48,839,352 (GRCm39) |
T412A |
probably benign |
Het |
| Aldh5a1 |
T |
A |
13: 25,097,776 (GRCm39) |
M420L |
possibly damaging |
Het |
| Armc2 |
A |
G |
10: 41,884,711 (GRCm39) |
S77P |
probably damaging |
Het |
| Avil |
A |
G |
10: 126,856,317 (GRCm39) |
|
probably null |
Het |
| Bltp3a |
A |
G |
17: 28,100,530 (GRCm39) |
H323R |
probably damaging |
Het |
| Bmp5 |
T |
A |
9: 75,801,035 (GRCm39) |
F388L |
probably damaging |
Het |
| Brca2 |
T |
G |
5: 150,465,573 (GRCm39) |
V1779G |
possibly damaging |
Het |
| Cblb |
T |
A |
16: 51,932,483 (GRCm39) |
S147T |
probably damaging |
Het |
| Cblc |
T |
C |
7: 19,519,233 (GRCm39) |
E409G |
probably benign |
Het |
| Cdc34b |
C |
T |
11: 94,632,886 (GRCm39) |
R29W |
probably damaging |
Het |
| Clic6 |
T |
A |
16: 92,324,954 (GRCm39) |
Y371N |
probably benign |
Het |
| Col5a2 |
A |
G |
1: 45,425,991 (GRCm39) |
|
probably null |
Het |
| Cpa3 |
C |
T |
3: 20,281,387 (GRCm39) |
C173Y |
probably damaging |
Het |
| Crb1 |
A |
C |
1: 139,170,756 (GRCm39) |
V817G |
probably damaging |
Het |
| Cyp2c39 |
A |
G |
19: 39,549,378 (GRCm39) |
T299A |
possibly damaging |
Het |
| Dock5 |
G |
A |
14: 68,029,738 (GRCm39) |
R1019C |
probably benign |
Het |
| Exoc8 |
T |
C |
8: 125,622,952 (GRCm39) |
T472A |
probably benign |
Het |
| Fancc |
A |
G |
13: 63,469,679 (GRCm39) |
|
probably null |
Het |
| Fcgbpl1 |
T |
A |
7: 27,852,733 (GRCm39) |
M1340K |
probably benign |
Het |
| Inpp5d |
T |
C |
1: 87,604,064 (GRCm39) |
L244P |
probably damaging |
Het |
| Ireb2 |
A |
G |
9: 54,799,831 (GRCm39) |
N424S |
probably benign |
Het |
| Krt35 |
T |
C |
11: 99,984,875 (GRCm39) |
D261G |
probably damaging |
Het |
| Lipc |
T |
A |
9: 70,720,192 (GRCm39) |
I272L |
probably benign |
Het |
| Lpcat3 |
A |
G |
6: 124,676,357 (GRCm39) |
|
probably benign |
Het |
| Lzts1 |
T |
C |
8: 69,591,236 (GRCm39) |
D304G |
probably benign |
Het |
| Mdn1 |
A |
G |
4: 32,774,008 (GRCm39) |
I5540V |
possibly damaging |
Het |
| Msln |
T |
C |
17: 25,970,563 (GRCm39) |
S231G |
probably benign |
Het |
| Mup8 |
G |
A |
4: 60,221,062 (GRCm39) |
T101M |
probably benign |
Het |
| Myh8 |
T |
C |
11: 67,179,179 (GRCm39) |
I524T |
probably damaging |
Het |
| Pappa2 |
A |
G |
1: 158,589,189 (GRCm39) |
C1679R |
probably damaging |
Het |
| Pcdhb1 |
T |
C |
18: 37,399,416 (GRCm39) |
S456P |
possibly damaging |
Het |
| Pcdhga5 |
A |
G |
18: 37,828,719 (GRCm39) |
N389S |
probably benign |
Het |
| Pitrm1 |
C |
A |
13: 6,617,507 (GRCm39) |
S620R |
probably benign |
Het |
| Plod3 |
T |
A |
5: 137,023,932 (GRCm39) |
|
probably benign |
Het |
| Por |
A |
T |
5: 135,759,771 (GRCm39) |
Q194L |
probably benign |
Het |
| Prkag3 |
A |
T |
1: 74,780,646 (GRCm39) |
Y396N |
probably damaging |
Het |
| R3hcc1 |
T |
C |
14: 69,935,053 (GRCm39) |
|
probably null |
Het |
| Rcan3 |
C |
T |
4: 135,152,592 (GRCm39) |
S43N |
probably damaging |
Het |
| Rhot1 |
A |
G |
11: 80,111,098 (GRCm39) |
T31A |
probably damaging |
Het |
| Rnps1 |
T |
G |
17: 24,637,486 (GRCm39) |
S43A |
unknown |
Het |
| Rp1 |
T |
C |
1: 4,416,426 (GRCm39) |
D1562G |
possibly damaging |
Het |
| Rps19-ps13 |
A |
G |
18: 40,859,428 (GRCm39) |
|
noncoding transcript |
Het |
| Serpina3c |
A |
T |
12: 104,115,771 (GRCm39) |
S258T |
possibly damaging |
Het |
| Smc2 |
G |
A |
4: 52,460,181 (GRCm39) |
R519Q |
possibly damaging |
Het |
| Sorbs2 |
A |
T |
8: 46,248,767 (GRCm39) |
T593S |
probably benign |
Het |
| Sptbn2 |
A |
G |
19: 4,787,885 (GRCm39) |
T955A |
probably benign |
Het |
| Stfa3 |
T |
C |
16: 36,272,581 (GRCm39) |
K40E |
probably damaging |
Het |
| Tmem87b |
A |
G |
2: 128,666,378 (GRCm39) |
E75G |
probably benign |
Het |
| Tmprss15 |
T |
C |
16: 78,800,298 (GRCm39) |
Q595R |
probably benign |
Het |
| Trak1 |
A |
T |
9: 121,289,478 (GRCm39) |
I597F |
probably damaging |
Het |
| Trat1 |
T |
C |
16: 48,555,300 (GRCm39) |
D144G |
probably damaging |
Het |
| Trim25 |
T |
C |
11: 88,890,358 (GRCm39) |
V15A |
probably benign |
Het |
| Tulp1 |
A |
C |
17: 28,578,034 (GRCm39) |
|
probably null |
Het |
| Txndc15 |
T |
A |
13: 55,865,734 (GRCm39) |
M66K |
probably benign |
Het |
| Vmn1r206 |
T |
A |
13: 22,804,775 (GRCm39) |
N144I |
probably damaging |
Het |
| Wwc2 |
T |
C |
8: 48,353,796 (GRCm39) |
T113A |
probably benign |
Het |
| Xpo5 |
A |
C |
17: 46,528,535 (GRCm39) |
E313D |
probably damaging |
Het |
| Zfp790 |
C |
T |
7: 29,529,192 (GRCm39) |
H626Y |
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 |
|
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 |
|
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'- GGCCCTGTCCCATTTTACAG -3'
(R):5'- GGTTGCTCTGGGGATGACAAAG -3'
Sequencing Primer
(F):5'- GTCCCATTTTACAGATATCAACACAG -3'
(R):5'- CAAAGTGCGGCTGGGATTGAC -3'
|
| Posted On |
2016-06-21 |
Incidental Mutation