Incidental Mutation 'IGL03225:Clba1'
| ID |
413760 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Clba1
|
| Ensembl Gene |
ENSMUSG00000037594 |
| Gene Name |
clathrin binding box of aftiphilin containing 1 |
| Synonyms |
C130001I08Rik, BC022687, Flj20080 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.066)
|
| Stock # |
IGL03225
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
112772595-112779865 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 112779211 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 283
(Y283H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137263
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037014]
[ENSMUST00000062092]
[ENSMUST00000177808]
[ENSMUST00000220899]
|
| AlphaFold |
Q8BHN9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000037014
AA Change: Y283H
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000038002
Gene: ENSMUSG00000037594
AA Change: Y283H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Clathrin_bdg
|
189 |
268 |
3.1e-40 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000062092
|
| SMART Domains |
Protein: ENSMUSP00000058901
Gene: ENSMUSG00000047832
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SERTA
|
33 |
70 |
9.1e-22 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000177808
AA Change: Y283H
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000137263
Gene: ENSMUSG00000037594
AA Change: Y283H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Clathrin_bdg
|
188 |
268 |
3.8e-34 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220899
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933405O20Rik |
A |
G |
7: 50,249,668 (GRCm39) |
K234R |
probably benign |
Het |
| Adam21 |
T |
C |
12: 81,606,043 (GRCm39) |
E573G |
probably benign |
Het |
| Aox4 |
A |
T |
1: 58,286,386 (GRCm39) |
I673F |
possibly damaging |
Het |
| Arfgef1 |
A |
T |
1: 10,224,543 (GRCm39) |
I1431N |
probably damaging |
Het |
| Cask |
A |
G |
X: 13,531,760 (GRCm39) |
M103V |
possibly damaging |
Het |
| Fam83h |
T |
C |
15: 75,875,150 (GRCm39) |
E729G |
probably damaging |
Het |
| Gnb4 |
T |
C |
3: 32,641,881 (GRCm39) |
T249A |
probably damaging |
Het |
| Gpr12 |
A |
G |
5: 146,520,761 (GRCm39) |
S54P |
probably damaging |
Het |
| Krt20 |
A |
G |
11: 99,322,756 (GRCm39) |
V293A |
probably damaging |
Het |
| Lonrf1 |
A |
G |
8: 36,689,855 (GRCm39) |
V706A |
probably damaging |
Het |
| Lrrc58 |
T |
G |
16: 37,701,632 (GRCm39) |
C303W |
probably damaging |
Het |
| Mbnl2 |
A |
G |
14: 120,622,875 (GRCm39) |
T138A |
probably benign |
Het |
| Mss51 |
G |
A |
14: 20,537,205 (GRCm39) |
R88* |
probably null |
Het |
| Nup214 |
T |
A |
2: 31,924,423 (GRCm39) |
S146T |
probably damaging |
Het |
| Otop2 |
G |
A |
11: 115,220,633 (GRCm39) |
R491H |
probably damaging |
Het |
| Podnl1 |
G |
A |
8: 84,858,818 (GRCm39) |
V548I |
probably benign |
Het |
| Prkcz |
A |
T |
4: 155,352,652 (GRCm39) |
F492I |
probably damaging |
Het |
| Sgtb |
T |
C |
13: 104,268,453 (GRCm39) |
L163P |
probably damaging |
Het |
| Spsb3 |
T |
C |
17: 25,110,045 (GRCm39) |
I365T |
possibly damaging |
Het |
| Tmem273 |
A |
G |
14: 32,527,133 (GRCm39) |
I33M |
probably damaging |
Het |
| Trio |
T |
C |
15: 27,902,781 (GRCm39) |
I227V |
probably benign |
Het |
| Vdac1 |
G |
A |
11: 52,267,482 (GRCm39) |
R93H |
probably benign |
Het |
| Wasf2 |
A |
G |
4: 132,903,857 (GRCm39) |
T22A |
probably benign |
Het |
|
| Other mutations in Clba1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01668:Clba1
|
APN |
12 |
112,773,264 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01813:Clba1
|
APN |
12 |
112,779,179 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03090:Clba1
|
APN |
12 |
112,779,340 (GRCm39) |
splice site |
probably null |
|
|
R1239:Clba1
|
UTSW |
12 |
112,773,123 (GRCm39) |
missense |
probably benign |
0.15 |
|
R6123:Clba1
|
UTSW |
12 |
112,774,530 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6756:Clba1
|
UTSW |
12 |
112,775,820 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6975:Clba1
|
UTSW |
12 |
112,773,217 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7211:Clba1
|
UTSW |
12 |
112,774,632 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8912:Clba1
|
UTSW |
12 |
112,779,323 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R9337:Clba1
|
UTSW |
12 |
112,775,898 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation