Incidental Mutation 'R1598:Coro1a'
ID |
175949 |
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 |
039635-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1598 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
126298946-126303925 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 126300864 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 154
(N154K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000134123
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032949]
[ENSMUST00000106364]
[ENSMUST00000106369]
[ENSMUST00000130498]
[ENSMUST00000173108]
[ENSMUST00000131415]
[ENSMUST00000205515]
[ENSMUST00000135087]
[ENSMUST00000173116]
|
AlphaFold |
O89053 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000032949
AA Change: N154K
PolyPhen 2
Score 0.261 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000032949 Gene: ENSMUSG00000030707 AA Change: N154K
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: N154K
PolyPhen 2
Score 0.261 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000101972 Gene: ENSMUSG00000030707 AA Change: N154K
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 |
possibly damaging
Transcript: ENSMUST00000173108
AA Change: N154K
PolyPhen 2
Score 0.714 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000134123 Gene: ENSMUSG00000030707 AA Change: N154K
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: ENSMUST00000131415
AA Change: N154K
PolyPhen 2
Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000117931 Gene: ENSMUSG00000030707 AA Change: N154K
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: ENSMUST00000205515
AA Change: N113K
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140896
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174579
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206275
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133718
|
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: 98.2%
- 10x: 95.7%
- 20x: 90.9%
|
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: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
5730455P16Rik |
G |
A |
11: 80,254,838 (GRCm39) |
Q328* |
probably null |
Het |
Aadacl4fm4 |
T |
A |
4: 144,396,994 (GRCm39) |
K246I |
possibly damaging |
Het |
Adamts1 |
G |
A |
16: 85,595,399 (GRCm39) |
Q260* |
probably null |
Het |
Add2 |
A |
T |
6: 86,075,628 (GRCm39) |
Y259F |
probably benign |
Het |
Bora |
T |
C |
14: 99,305,840 (GRCm39) |
V403A |
probably benign |
Het |
Ccnl1 |
G |
A |
3: 65,854,191 (GRCm39) |
R477W |
probably damaging |
Het |
Cdc25a |
CG |
CGG |
9: 109,708,961 (GRCm39) |
|
probably null |
Het |
Cdr2l |
T |
C |
11: 115,284,203 (GRCm39) |
S180P |
probably damaging |
Het |
Cep290 |
T |
A |
10: 100,385,191 (GRCm39) |
L1889Q |
probably damaging |
Het |
Ces4a |
T |
C |
8: 105,869,453 (GRCm39) |
V208A |
probably damaging |
Het |
Col2a1 |
T |
C |
15: 97,877,131 (GRCm39) |
D1049G |
probably damaging |
Het |
Cubn |
T |
A |
2: 13,474,600 (GRCm39) |
R401S |
probably benign |
Het |
Cul7 |
A |
T |
17: 46,974,017 (GRCm39) |
Q1434L |
probably benign |
Het |
Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
Dars1 |
G |
T |
1: 128,301,709 (GRCm39) |
D308E |
probably benign |
Het |
Dna2 |
T |
A |
10: 62,797,436 (GRCm39) |
F604I |
probably damaging |
Het |
Dnah1 |
T |
G |
14: 31,023,219 (GRCm39) |
I1033L |
probably benign |
Het |
Erlin1 |
T |
C |
19: 44,036,112 (GRCm39) |
E206G |
probably damaging |
Het |
Esrp2 |
T |
A |
8: 106,859,905 (GRCm39) |
E345D |
probably damaging |
Het |
Foxa1 |
T |
C |
12: 57,589,473 (GRCm39) |
D249G |
possibly damaging |
Het |
Ghsr |
C |
A |
3: 27,426,426 (GRCm39) |
L161M |
probably benign |
Het |
Gm57858 |
C |
T |
3: 36,073,146 (GRCm39) |
A379T |
probably damaging |
Het |
Gpr155 |
C |
A |
2: 73,200,434 (GRCm39) |
V358F |
probably damaging |
Het |
H2-Eb2 |
A |
T |
17: 34,553,348 (GRCm39) |
N178I |
probably damaging |
Het |
Hydin |
T |
A |
8: 111,137,306 (GRCm39) |
I703N |
possibly damaging |
Het |
Kctd15 |
A |
G |
7: 34,341,417 (GRCm39) |
V170A |
probably damaging |
Het |
Klhl31 |
A |
T |
9: 77,558,298 (GRCm39) |
Y338F |
possibly damaging |
Het |
Krt5 |
C |
T |
15: 101,620,876 (GRCm39) |
A124T |
probably benign |
Het |
Krt72 |
T |
A |
15: 101,688,688 (GRCm39) |
I331F |
probably benign |
Het |
Lrp1b |
T |
A |
2: 41,401,490 (GRCm39) |
D388V |
probably damaging |
Het |
Ly9 |
A |
G |
1: 171,424,075 (GRCm39) |
V382A |
probably benign |
Het |
Mon2 |
T |
C |
10: 122,852,301 (GRCm39) |
Y1024C |
probably damaging |
Het |
Myh14 |
A |
G |
7: 44,287,818 (GRCm39) |
F572L |
probably damaging |
Het |
Myh3 |
A |
T |
11: 66,983,997 (GRCm39) |
D987V |
probably damaging |
Het |
Ndn |
C |
T |
7: 61,998,256 (GRCm39) |
P34L |
probably benign |
Het |
Nphp4 |
A |
G |
4: 152,646,547 (GRCm39) |
T1360A |
probably benign |
Het |
Oog4 |
A |
G |
4: 143,164,571 (GRCm39) |
L320P |
probably damaging |
Het |
Or4k49 |
G |
T |
2: 111,495,099 (GRCm39) |
S176I |
probably damaging |
Het |
Or5m9 |
C |
T |
2: 85,877,657 (GRCm39) |
T277I |
probably damaging |
Het |
Or5w8 |
T |
A |
2: 87,688,095 (GRCm39) |
I192K |
probably benign |
Het |
Pcnx2 |
T |
C |
8: 126,498,825 (GRCm39) |
N1558S |
probably benign |
Het |
Pde10a |
A |
G |
17: 9,147,976 (GRCm39) |
E147G |
probably damaging |
Het |
Pgbd5 |
T |
A |
8: 125,101,026 (GRCm39) |
H410L |
probably benign |
Het |
Plce1 |
A |
C |
19: 38,709,440 (GRCm39) |
D1098A |
probably damaging |
Het |
Psg25 |
G |
A |
7: 18,265,928 (GRCm39) |
Q16* |
probably null |
Het |
Psmd9 |
T |
A |
5: 123,379,980 (GRCm39) |
V133E |
probably damaging |
Het |
Rabgap1 |
C |
T |
2: 37,451,911 (GRCm39) |
S937F |
probably damaging |
Het |
Rbck1 |
A |
G |
2: 152,165,090 (GRCm39) |
|
probably null |
Het |
Rprd2 |
C |
G |
3: 95,726,051 (GRCm39) |
|
probably benign |
Het |
Rrs1 |
A |
G |
1: 9,616,137 (GRCm39) |
N130S |
probably benign |
Het |
Scmh1 |
A |
T |
4: 120,372,327 (GRCm39) |
I377F |
possibly damaging |
Het |
Skor1 |
G |
T |
9: 63,053,286 (GRCm39) |
R228S |
probably damaging |
Het |
Slc2a4 |
A |
G |
11: 69,835,844 (GRCm39) |
V335A |
probably benign |
Het |
Slc4a9 |
G |
A |
18: 36,661,424 (GRCm39) |
W62* |
probably null |
Het |
Styxl2 |
G |
A |
1: 165,937,828 (GRCm39) |
T77I |
probably benign |
Het |
Taar9 |
G |
T |
10: 23,985,305 (GRCm39) |
A43D |
possibly damaging |
Het |
Tns4 |
T |
C |
11: 98,961,243 (GRCm39) |
Y645C |
probably damaging |
Het |
Tpcn2 |
G |
T |
7: 144,830,957 (GRCm39) |
Y129* |
probably null |
Het |
Trpm3 |
T |
C |
19: 22,710,388 (GRCm39) |
S278P |
possibly damaging |
Het |
Ttc3 |
T |
C |
16: 94,223,156 (GRCm39) |
W615R |
probably damaging |
Het |
Ttll5 |
T |
C |
12: 85,910,372 (GRCm39) |
V207A |
probably damaging |
Het |
Ubr7 |
G |
T |
12: 102,736,153 (GRCm39) |
M358I |
probably damaging |
Het |
Urb1 |
C |
A |
16: 90,574,328 (GRCm39) |
V918F |
possibly damaging |
Het |
Vmn2r51 |
G |
A |
7: 9,839,432 (GRCm39) |
T52I |
probably benign |
Het |
Vmn2r95 |
A |
T |
17: 18,672,575 (GRCm39) |
I771F |
probably benign |
Het |
Wfdc16 |
T |
C |
2: 164,477,350 (GRCm39) |
S107G |
probably benign |
Het |
Zmym2 |
A |
G |
14: 57,140,226 (GRCm39) |
T22A |
possibly damaging |
Het |
Zmym2 |
G |
A |
14: 57,151,524 (GRCm39) |
G470R |
probably 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 |
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 |
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'- CGATGACACGAACTCGCTTGTCAC -3'
(R):5'- GTTTGAAACCCCAGACTCACTCTCC -3'
Sequencing Primer
(F):5'- CTTGTCACGGCAGGAGGTG -3'
(R):5'- AGCCTGTCATCACCTTGGAG -3'
|
Posted On |
2014-04-24 |