Incidental Mutation 'IGL03287:Cib4'
| ID |
415759 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cib4
|
| Ensembl Gene |
ENSMUSG00000053194 |
| Gene Name |
calcium and integrin binding family member 4 |
| Synonyms |
1700041E20Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.372)
|
| Stock # |
IGL03287
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
30642927-30703180 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 30645887 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 127
(L127P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000066222
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031078]
[ENSMUST00000065486]
[ENSMUST00000114743]
[ENSMUST00000199129]
|
| AlphaFold |
Q9D9N5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031078
|
| SMART Domains |
Protein: ENSMUSP00000031078
Gene: ENSMUSG00000029182
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2475
|
19 |
84 |
2.3e-28 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000065486
AA Change: L127P
PolyPhen 2
Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000066222
Gene: ENSMUSG00000053194
AA Change: L127P
| Domain | Start | End | E-Value | Type |
|---|
|
EFh
|
101 |
129 |
6.31e-1 |
SMART |
|
EFh
|
143 |
171 |
2.22e0 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114743
|
| SMART Domains |
Protein: ENSMUSP00000110391
Gene: ENSMUSG00000029182
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2475
|
19 |
84 |
1e-26 |
PFAM |
|
low complexity region
|
125 |
137 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199129
|
| SMART Domains |
Protein: ENSMUSP00000142583
Gene: ENSMUSG00000029182
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2475
|
19 |
84 |
3.7e-23 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930519G04Rik |
A |
T |
5: 115,008,237 (GRCm39) |
D17V |
probably damaging |
Het |
| Cdh5 |
T |
A |
8: 104,854,747 (GRCm39) |
V225E |
probably damaging |
Het |
| Cfap52 |
C |
T |
11: 67,826,802 (GRCm39) |
|
probably benign |
Het |
| Fbln2 |
A |
G |
6: 91,210,476 (GRCm39) |
H140R |
probably damaging |
Het |
| Grm8 |
A |
G |
6: 27,760,254 (GRCm39) |
F359L |
possibly damaging |
Het |
| Kat7 |
A |
T |
11: 95,190,935 (GRCm39) |
D150E |
probably damaging |
Het |
| Kif1b |
A |
G |
4: 149,299,438 (GRCm39) |
I944T |
possibly damaging |
Het |
| Krt87 |
T |
C |
15: 101,330,218 (GRCm39) |
|
probably benign |
Het |
| Mast1 |
T |
C |
8: 85,639,982 (GRCm39) |
S1142G |
probably benign |
Het |
| Neb |
A |
G |
2: 52,027,335 (GRCm39) |
Y6889H |
probably damaging |
Het |
| Or10ak13 |
A |
G |
4: 118,639,551 (GRCm39) |
V77A |
possibly damaging |
Het |
| Or1e16 |
A |
T |
11: 73,286,845 (GRCm39) |
M1K |
probably null |
Het |
| Plk4 |
A |
T |
3: 40,759,553 (GRCm39) |
I150L |
probably benign |
Het |
| Scn5a |
T |
C |
9: 119,318,844 (GRCm39) |
D1598G |
probably damaging |
Het |
| Skor2 |
A |
G |
18: 76,963,830 (GRCm39) |
K925E |
probably damaging |
Het |
| Slc25a29 |
A |
T |
12: 108,797,135 (GRCm39) |
F22L |
possibly damaging |
Het |
| Slc27a2 |
A |
G |
2: 126,395,312 (GRCm39) |
T80A |
probably damaging |
Het |
| Tlr3 |
A |
G |
8: 45,855,817 (GRCm39) |
V121A |
probably benign |
Het |
| Tubgcp3 |
A |
T |
8: 12,689,630 (GRCm39) |
D545E |
possibly damaging |
Het |
| Zdhhc8 |
T |
C |
16: 18,042,964 (GRCm39) |
Y412C |
probably benign |
Het |
| Zmynd12 |
A |
G |
4: 119,310,776 (GRCm39) |
E328G |
probably damaging |
Het |
|
| Other mutations in Cib4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02892:Cib4
|
APN |
5 |
30,702,051 (GRCm39) |
splice site |
probably benign |
|
|
R0973:Cib4
|
UTSW |
5 |
30,645,938 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2847:Cib4
|
UTSW |
5 |
30,645,932 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6767:Cib4
|
UTSW |
5 |
30,691,589 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7206:Cib4
|
UTSW |
5 |
30,703,110 (GRCm39) |
nonsense |
probably null |
|
|
R8133:Cib4
|
UTSW |
5 |
30,691,562 (GRCm39) |
missense |
probably benign |
|
|
R8490:Cib4
|
UTSW |
5 |
30,703,075 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9125:Cib4
|
UTSW |
5 |
30,655,477 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation