Incidental Mutation 'R1552:Coro1a'
| ID |
170007 |
| 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 |
039591-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1552 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
126298946-126303925 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 126299124 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 367
(N367D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134123
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032949]
[ENSMUST00000106364]
[ENSMUST00000106369]
[ENSMUST00000173108]
[ENSMUST00000205515]
[ENSMUST00000142337]
[ENSMUST00000135087]
[ENSMUST00000144897]
[ENSMUST00000173116]
[ENSMUST00000130498]
[ENSMUST00000131415]
|
| AlphaFold |
O89053 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032949
AA Change: N439D
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000032949
Gene: ENSMUSG00000030707
AA Change: N439D
| 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 benign
Transcript: ENSMUST00000106364
AA Change: N439D
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000101972
Gene: ENSMUSG00000030707
AA Change: N439D
| 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: ENSMUST00000173108
AA Change: N367D
PolyPhen 2
Score 0.133 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000134123
Gene: ENSMUSG00000030707
AA Change: N367D
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206275
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174579
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140896
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155012
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144571
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133718
|
| 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: 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: 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: 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: 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.1%
- 20x: 91.7%
|
| Validation Efficiency |
97% (71/73) |
| 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 |
|---|
| Abcc5 |
T |
A |
16: 20,217,617 (GRCm39) |
I365F |
probably damaging |
Het |
| Abhd15 |
T |
C |
11: 77,406,233 (GRCm39) |
L70P |
probably damaging |
Het |
| Adam18 |
A |
C |
8: 25,136,377 (GRCm39) |
H381Q |
probably benign |
Het |
| Ankfy1 |
T |
C |
11: 72,645,321 (GRCm39) |
|
probably null |
Het |
| Arcn1 |
C |
T |
9: 44,670,291 (GRCm39) |
A112T |
probably damaging |
Het |
| Bltp3a |
T |
C |
17: 28,109,045 (GRCm39) |
F1088S |
possibly damaging |
Het |
| Calhm1 |
C |
T |
19: 47,129,640 (GRCm39) |
R294H |
probably benign |
Het |
| Ccdc121rt1 |
A |
G |
1: 181,338,556 (GRCm39) |
L132P |
probably damaging |
Het |
| Cdk5rap1 |
T |
C |
2: 154,212,615 (GRCm39) |
E81G |
probably benign |
Het |
| Cep170 |
T |
C |
1: 176,610,060 (GRCm39) |
|
probably benign |
Het |
| Cep350 |
C |
T |
1: 155,786,484 (GRCm39) |
R1454Q |
possibly damaging |
Het |
| Chrna3 |
C |
A |
9: 54,923,192 (GRCm39) |
E205D |
probably benign |
Het |
| Chst5 |
T |
C |
8: 112,616,912 (GRCm39) |
D236G |
probably damaging |
Het |
| Cyp3a16 |
T |
C |
5: 145,373,346 (GRCm39) |
I474V |
probably benign |
Het |
| Cyth3 |
G |
A |
5: 143,683,505 (GRCm39) |
V87I |
probably benign |
Het |
| Dclk3 |
C |
A |
9: 111,317,647 (GRCm39) |
T761K |
probably damaging |
Het |
| Dvl2 |
T |
A |
11: 69,897,198 (GRCm39) |
M300K |
possibly damaging |
Het |
| Eefsec |
C |
T |
6: 88,353,182 (GRCm39) |
|
probably benign |
Het |
| Exog |
T |
C |
9: 119,274,176 (GRCm39) |
S54P |
unknown |
Het |
| Fasn |
A |
G |
11: 120,709,384 (GRCm39) |
S519P |
probably damaging |
Het |
| Gas8 |
G |
A |
8: 124,247,385 (GRCm39) |
A16T |
probably benign |
Het |
| Got2 |
A |
G |
8: 96,596,122 (GRCm39) |
S333P |
probably benign |
Het |
| Hadhb |
T |
A |
5: 30,381,931 (GRCm39) |
L287Q |
probably null |
Het |
| Ift57 |
A |
G |
16: 49,579,716 (GRCm39) |
T211A |
probably benign |
Het |
| Il1rap |
A |
G |
16: 26,541,184 (GRCm39) |
E475G |
possibly damaging |
Het |
| Ilkap |
A |
T |
1: 91,312,316 (GRCm39) |
D11E |
probably damaging |
Het |
| Impact |
T |
C |
18: 13,117,337 (GRCm39) |
S137P |
probably benign |
Het |
| Jarid2 |
T |
C |
13: 45,064,675 (GRCm39) |
V920A |
probably damaging |
Het |
| Kcnk18 |
A |
T |
19: 59,223,890 (GRCm39) |
H345L |
probably damaging |
Het |
| Kdm4d |
A |
T |
9: 14,375,325 (GRCm39) |
Y178N |
probably damaging |
Het |
| Klk1b1 |
A |
G |
7: 43,618,767 (GRCm39) |
Y48C |
probably damaging |
Het |
| Klra5 |
G |
T |
6: 129,886,848 (GRCm39) |
T60K |
probably damaging |
Het |
| Kng2 |
A |
T |
16: 22,806,270 (GRCm39) |
L643H |
probably damaging |
Het |
| Lamb3 |
A |
G |
1: 193,013,067 (GRCm39) |
|
probably null |
Het |
| Lingo2 |
A |
G |
4: 35,708,315 (GRCm39) |
V555A |
probably damaging |
Het |
| Mbd5 |
T |
C |
2: 49,162,946 (GRCm39) |
S251P |
probably damaging |
Het |
| Mc4r |
T |
C |
18: 66,992,766 (GRCm39) |
S116G |
probably benign |
Het |
| Mipol1 |
T |
C |
12: 57,352,874 (GRCm39) |
V71A |
possibly damaging |
Het |
| Myo15b |
A |
C |
11: 115,757,461 (GRCm39) |
S1104R |
probably benign |
Het |
| Nek1 |
T |
A |
8: 61,459,771 (GRCm39) |
D26E |
probably damaging |
Het |
| Neu1 |
C |
T |
17: 35,151,089 (GRCm39) |
|
probably benign |
Het |
| Npffr2 |
T |
C |
5: 89,730,975 (GRCm39) |
S302P |
possibly damaging |
Het |
| Or8b48 |
T |
C |
9: 38,492,675 (GRCm39) |
M34T |
probably benign |
Het |
| Palmd |
T |
A |
3: 116,741,689 (GRCm39) |
|
probably benign |
Het |
| Pcdh8 |
A |
T |
14: 80,008,047 (GRCm39) |
V172E |
probably benign |
Het |
| Pnpla6 |
C |
A |
8: 3,572,403 (GRCm39) |
Q291K |
probably damaging |
Het |
| Pou2af2 |
T |
A |
9: 51,202,870 (GRCm39) |
S95C |
probably damaging |
Het |
| Prkch |
T |
C |
12: 73,749,320 (GRCm39) |
F357L |
probably benign |
Het |
| Ptprj |
A |
T |
2: 90,301,497 (GRCm39) |
Y212N |
probably damaging |
Het |
| Reln |
G |
T |
5: 22,165,376 (GRCm39) |
H2061N |
probably benign |
Het |
| Rint1 |
T |
A |
5: 24,005,656 (GRCm39) |
S113T |
probably benign |
Het |
| Rnf38 |
G |
C |
4: 44,142,468 (GRCm39) |
|
probably null |
Het |
| Slc30a4 |
T |
A |
2: 122,527,936 (GRCm39) |
I374L |
probably benign |
Het |
| Slfn10-ps |
T |
C |
11: 82,920,676 (GRCm39) |
|
noncoding transcript |
Het |
| Smcp |
A |
T |
3: 92,491,710 (GRCm39) |
C46S |
unknown |
Het |
| Smu1 |
A |
C |
4: 40,748,570 (GRCm39) |
V240G |
probably damaging |
Het |
| Srsf5 |
A |
G |
12: 80,996,519 (GRCm39) |
|
probably benign |
Het |
| Stn1 |
T |
C |
19: 47,524,812 (GRCm39) |
|
probably null |
Het |
| Stx18 |
A |
G |
5: 38,262,335 (GRCm39) |
E63G |
probably damaging |
Het |
| Tas2r130 |
A |
G |
6: 131,607,130 (GRCm39) |
Y222H |
probably benign |
Het |
| Tescl |
G |
T |
7: 24,032,758 (GRCm39) |
P189Q |
probably benign |
Het |
| Tlr1 |
A |
G |
5: 65,084,203 (GRCm39) |
S125P |
probably damaging |
Het |
| Ugt2a2 |
G |
T |
5: 87,609,880 (GRCm39) |
D566E |
possibly damaging |
Het |
| Unc13b |
A |
T |
4: 43,237,144 (GRCm39) |
T3405S |
probably damaging |
Het |
| Upf1 |
G |
A |
8: 70,785,709 (GRCm39) |
Q1046* |
probably null |
Het |
| Wwox |
T |
A |
8: 115,172,090 (GRCm39) |
Y61* |
probably null |
Het |
| Zfhx4 |
C |
T |
3: 5,468,170 (GRCm39) |
T2776M |
probably damaging |
Het |
| Zranb3 |
G |
A |
1: 127,888,488 (GRCm39) |
|
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 |
|
|
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'- TCAGAGAACTCTCAAGGGGAAGCC -3'
(R):5'- CAGTGTTAGAGATGCCCAAGCCAAG -3'
Sequencing Primer
(F):5'- CAGTTCACCGGAGTCTGAGAG -3'
(R):5'- GGCCTTAGAAACCAGGTTGC -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation