Incidental Mutation 'R1307:Cabp1'
| ID |
157826 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cabp1
|
| Ensembl Gene |
ENSMUSG00000029544 |
| Gene Name |
calcium binding protein 1 |
| Synonyms |
caldendrin |
| MMRRC Submission |
039373-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1307 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
115306750-115332440 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 115310965 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 294
(F294L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107741
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031519]
[ENSMUST00000112112]
[ENSMUST00000112113]
[ENSMUST00000145197]
|
| AlphaFold |
Q9JLK7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031519
AA Change: F171L
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000031519
Gene: ENSMUSG00000029544
AA Change: F171L
| Domain | Start | End | E-Value | Type |
|---|
|
EFh
|
86 |
114 |
1.22e-5 |
SMART |
|
Blast:EFh
|
122 |
150 |
1e-7 |
BLAST |
|
EFh
|
163 |
191 |
3.93e-9 |
SMART |
|
EFh
|
200 |
227 |
7.82e-4 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000112109
|
| SMART Domains |
Protein: ENSMUSP00000107737
Gene: ENSMUSG00000029544
| Domain | Start | End | E-Value | Type |
|---|
|
EFh
|
71 |
99 |
1.22e-5 |
SMART |
|
Blast:EFh
|
107 |
135 |
8e-8 |
BLAST |
|
EFh
|
148 |
176 |
3.93e-9 |
SMART |
|
EFh
|
185 |
212 |
7.82e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112112
AA Change: F111L
PolyPhen 2
Score 0.172 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000107740
Gene: ENSMUSG00000029544
AA Change: F111L
| Domain | Start | End | E-Value | Type |
|---|
|
EFh
|
26 |
54 |
1.22e-5 |
SMART |
|
Blast:EFh
|
62 |
90 |
5e-8 |
BLAST |
|
EFh
|
103 |
131 |
3.93e-9 |
SMART |
|
EFh
|
140 |
167 |
7.82e-4 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000112113
AA Change: F294L
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000107741
Gene: ENSMUSG00000029544
AA Change: F294L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
29 |
55 |
N/A |
INTRINSIC |
|
low complexity region
|
58 |
113 |
N/A |
INTRINSIC |
|
low complexity region
|
159 |
171 |
N/A |
INTRINSIC |
|
EFh
|
209 |
237 |
1.22e-5 |
SMART |
|
Blast:EFh
|
245 |
273 |
3e-7 |
BLAST |
|
EFh
|
286 |
314 |
3.93e-9 |
SMART |
|
EFh
|
323 |
350 |
7.82e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145197
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151775
|
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.6%
- 20x: 91.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knockout allele are viable and fertile and show no apparent motor deficits, but they are affected in the transmission of responses to light through the retinal circuits. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ascc1 |
A |
T |
10: 59,848,321 (GRCm39) |
I83L |
probably benign |
Het |
| Bcl2a1b |
T |
C |
9: 89,081,543 (GRCm39) |
V44A |
probably damaging |
Het |
| Bdp1 |
T |
C |
13: 100,186,271 (GRCm39) |
D1727G |
possibly damaging |
Het |
| Coq8b |
T |
A |
7: 26,950,016 (GRCm39) |
M365K |
probably damaging |
Het |
| Gk2 |
A |
T |
5: 97,603,268 (GRCm39) |
D523E |
probably benign |
Het |
| Havcr1 |
C |
T |
11: 46,647,097 (GRCm39) |
T177I |
probably damaging |
Het |
| Kdm4a |
T |
C |
4: 118,032,839 (GRCm39) |
T76A |
probably benign |
Het |
| Lama4 |
A |
T |
10: 38,946,028 (GRCm39) |
I804F |
probably benign |
Het |
| Ntn4 |
C |
T |
10: 93,543,215 (GRCm39) |
R314W |
probably damaging |
Het |
| Pcdh10 |
A |
G |
3: 45,336,314 (GRCm39) |
N876S |
probably benign |
Het |
| Polr3f |
T |
C |
2: 144,375,113 (GRCm39) |
V95A |
probably damaging |
Het |
| Ptk2 |
A |
G |
15: 73,163,895 (GRCm39) |
V389A |
probably benign |
Het |
| Rhof |
T |
C |
5: 123,258,378 (GRCm39) |
E151G |
probably damaging |
Het |
| Slc25a28 |
T |
C |
19: 43,655,470 (GRCm39) |
N135S |
probably benign |
Het |
| Sphk1 |
G |
A |
11: 116,426,928 (GRCm39) |
V295I |
probably benign |
Het |
| Sv2b |
G |
T |
7: 74,856,182 (GRCm39) |
T36K |
probably damaging |
Het |
| Sybu |
T |
C |
15: 44,538,786 (GRCm39) |
E291G |
probably damaging |
Het |
| Tnc |
T |
C |
4: 63,927,096 (GRCm39) |
E810G |
probably damaging |
Het |
| Uba52 |
T |
C |
8: 70,961,166 (GRCm39) |
H68R |
probably damaging |
Het |
| Unc79 |
A |
G |
12: 103,036,335 (GRCm39) |
N552S |
probably damaging |
Het |
| Ush2a |
T |
C |
1: 188,090,164 (GRCm39) |
C416R |
probably damaging |
Het |
| Ush2a |
T |
C |
1: 188,184,037 (GRCm39) |
V1447A |
probably damaging |
Het |
| Zfp985 |
C |
T |
4: 147,667,704 (GRCm39) |
L191F |
probably benign |
Het |
|
| Other mutations in Cabp1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R1280:Cabp1
|
UTSW |
5 |
115,313,530 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1435:Cabp1
|
UTSW |
5 |
115,311,267 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2509:Cabp1
|
UTSW |
5 |
115,310,843 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4417:Cabp1
|
UTSW |
5 |
115,324,096 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R4788:Cabp1
|
UTSW |
5 |
115,313,530 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4837:Cabp1
|
UTSW |
5 |
115,311,212 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5026:Cabp1
|
UTSW |
5 |
115,313,531 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R5199:Cabp1
|
UTSW |
5 |
115,324,102 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6513:Cabp1
|
UTSW |
5 |
115,307,193 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R6941:Cabp1
|
UTSW |
5 |
115,310,960 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9659:Cabp1
|
UTSW |
5 |
115,311,187 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGGCATGGATTGGCATATACACAG -3'
(R):5'- TGACCTCATTGACCTCGGTCACAC -3'
Sequencing Primer
(F):5'- CATGGATTGGCATATACACAGATACG -3'
(R):5'- GAGAGTGGCTCAATCCCTTC -3'
|
| Posted On |
2014-02-18 |
Incidental Mutation