Incidental Mutation 'IGL02932:Clec10a'
| ID |
364164 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Clec10a
|
| Ensembl Gene |
ENSMUSG00000000318 |
| Gene Name |
C-type lectin domain family 10, member A |
| Synonyms |
CD301a, Mgl1 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02932
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
70057449-70061662 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 70060554 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137447
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000327]
[ENSMUST00000102571]
[ENSMUST00000144935]
[ENSMUST00000152635]
[ENSMUST00000153959]
[ENSMUST00000178945]
[ENSMUST00000178567]
|
| AlphaFold |
P49300 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000000327
|
| SMART Domains |
Protein: ENSMUSP00000000327
Gene: ENSMUSG00000000318
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Lectin_N
|
1 |
164 |
8.5e-64 |
PFAM |
|
CLECT
|
174 |
298 |
1.24e-38 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102571
|
| SMART Domains |
Protein: ENSMUSP00000099631
Gene: ENSMUSG00000000318
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Lectin_N
|
1 |
163 |
3.9e-65 |
PFAM |
|
CLECT
|
173 |
297 |
1.24e-38 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143298
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144935
|
| SMART Domains |
Protein: ENSMUSP00000136500
Gene: ENSMUSG00000000318
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Lectin_N
|
19 |
126 |
2e-35 |
PFAM |
|
CLECT
|
136 |
212 |
1.16e-6 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150966
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152635
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153959
|
| SMART Domains |
Protein: ENSMUSP00000117772
Gene: ENSMUSG00000000318
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Lectin_N
|
1 |
41 |
6e-19 |
PFAM |
|
Pfam:Lectin_C
|
68 |
102 |
2.3e-6 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000178945
|
| SMART Domains |
Protein: ENSMUSP00000137447
Gene: ENSMUSG00000000318
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Lectin_N
|
7 |
164 |
3.6e-51 |
PFAM |
|
CLECT
|
174 |
292 |
1e-24 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180106
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000178567
|
| SMART Domains |
Protein: ENSMUSP00000136322
Gene: ENSMUSG00000000318
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Lectin_N
|
1 |
57 |
1.5e-26 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygotes for a targeted null mutation exhibit elevated red blood cell counts but appear to be otherwise normal. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap42 |
T |
A |
9: 9,115,709 (GRCm39) |
E122D |
probably damaging |
Het |
| Asb3 |
G |
A |
11: 30,979,067 (GRCm39) |
|
probably null |
Het |
| Avl9 |
T |
C |
6: 56,713,536 (GRCm39) |
S265P |
probably benign |
Het |
| Cep44 |
C |
T |
8: 57,000,459 (GRCm39) |
R18Q |
probably damaging |
Het |
| Cog4 |
A |
G |
8: 111,579,065 (GRCm39) |
I115V |
probably benign |
Het |
| Coq3 |
C |
T |
4: 21,900,430 (GRCm39) |
A219V |
probably benign |
Het |
| Cry2 |
G |
A |
2: 92,243,462 (GRCm39) |
R460* |
probably null |
Het |
| Ddx39b |
A |
G |
17: 35,472,337 (GRCm39) |
|
probably benign |
Het |
| Dhx40 |
G |
A |
11: 86,662,755 (GRCm39) |
R646C |
probably damaging |
Het |
| Ears2 |
G |
A |
7: 121,662,284 (GRCm39) |
R55C |
probably damaging |
Het |
| Eif3m |
C |
T |
2: 104,845,214 (GRCm39) |
G26R |
probably damaging |
Het |
| Exo5 |
A |
G |
4: 120,779,742 (GRCm39) |
L41P |
probably benign |
Het |
| Fut10 |
A |
G |
8: 31,749,965 (GRCm39) |
H417R |
probably damaging |
Het |
| Gars1 |
T |
A |
6: 55,037,929 (GRCm39) |
L296Q |
probably damaging |
Het |
| Gpr143 |
A |
T |
X: 151,576,439 (GRCm39) |
|
probably benign |
Het |
| Htr1b |
C |
A |
9: 81,513,689 (GRCm39) |
R306L |
probably damaging |
Het |
| Lama3 |
G |
A |
18: 12,661,858 (GRCm39) |
A2185T |
probably damaging |
Het |
| Mbd5 |
C |
A |
2: 49,169,460 (GRCm39) |
Q1544K |
possibly damaging |
Het |
| Mccc1 |
T |
C |
3: 36,014,178 (GRCm39) |
E713G |
possibly damaging |
Het |
| Mttp |
A |
G |
3: 137,817,505 (GRCm39) |
F415S |
probably benign |
Het |
| Mug1 |
A |
G |
6: 121,864,386 (GRCm39) |
T1428A |
probably benign |
Het |
| Mup6 |
A |
C |
4: 60,006,009 (GRCm39) |
D159A |
probably damaging |
Het |
| Nsd2 |
T |
C |
5: 34,037,472 (GRCm39) |
L698P |
probably damaging |
Het |
| Or2w6 |
A |
T |
13: 21,843,001 (GRCm39) |
M164K |
probably damaging |
Het |
| Or4p22 |
G |
T |
2: 88,317,519 (GRCm39) |
V148F |
probably benign |
Het |
| Or5p70 |
A |
G |
7: 107,994,720 (GRCm39) |
N131S |
probably benign |
Het |
| Or6c217 |
A |
T |
10: 129,738,287 (GRCm39) |
C97* |
probably null |
Het |
| Osgepl1 |
G |
A |
1: 53,360,675 (GRCm39) |
R372H |
probably benign |
Het |
| Pias2 |
C |
T |
18: 77,232,799 (GRCm39) |
H537Y |
probably damaging |
Het |
| Slc38a7 |
A |
C |
8: 96,572,783 (GRCm39) |
I149M |
probably damaging |
Het |
| Smn1 |
A |
G |
13: 100,264,472 (GRCm39) |
T68A |
probably benign |
Het |
| Syde2 |
A |
G |
3: 145,707,231 (GRCm39) |
K657R |
possibly damaging |
Het |
| Tdrd5 |
A |
T |
1: 156,098,190 (GRCm39) |
H625Q |
possibly damaging |
Het |
| Tead3 |
T |
C |
17: 28,560,325 (GRCm39) |
Y2C |
probably damaging |
Het |
| Tmem255a |
T |
A |
X: 37,296,940 (GRCm39) |
T280S |
probably benign |
Het |
| Ttpa |
A |
G |
4: 20,021,215 (GRCm39) |
T128A |
possibly damaging |
Het |
| Wdhd1 |
A |
G |
14: 47,509,591 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Clec10a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02945:Clec10a
|
APN |
11 |
70,061,368 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1264:Clec10a
|
UTSW |
11 |
70,060,567 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1539:Clec10a
|
UTSW |
11 |
70,060,645 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2113:Clec10a
|
UTSW |
11 |
70,060,650 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2567:Clec10a
|
UTSW |
11 |
70,060,358 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4597:Clec10a
|
UTSW |
11 |
70,060,806 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4907:Clec10a
|
UTSW |
11 |
70,060,797 (GRCm39) |
missense |
probably benign |
0.25 |
|
R4913:Clec10a
|
UTSW |
11 |
70,060,851 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6577:Clec10a
|
UTSW |
11 |
70,061,436 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7538:Clec10a
|
UTSW |
11 |
70,060,604 (GRCm39) |
missense |
probably benign |
0.39 |
|
R8184:Clec10a
|
UTSW |
11 |
70,060,642 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9407:Clec10a
|
UTSW |
11 |
70,060,155 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9596:Clec10a
|
UTSW |
11 |
70,059,973 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-12-18 |
Incidental Mutation