Incidental Mutation 'R3031:Cbln4'
ID |
264719 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cbln4
|
Ensembl Gene |
ENSMUSG00000067578 |
Gene Name |
cerebellin 4 precursor protein |
Synonyms |
|
MMRRC Submission |
040547-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.210)
|
Stock # |
R3031 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
171878256-171885386 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 171884100 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 40
(V40A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000085263
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087950]
|
AlphaFold |
Q8BME9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000087950
AA Change: V40A
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000085263 Gene: ENSMUSG00000067578 AA Change: V40A
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
low complexity region
|
49 |
60 |
N/A |
INTRINSIC |
C1Q
|
61 |
198 |
1.14e-46 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137886
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a family of small secreted proteins containing C1Q domains. Members of this family are involved in regulation of neurexin signalling during synapse development. The mouse homolog of the protein encoded by this gene competes with netrin to bind to the deleted in colorectal cancer receptor. [provided by RefSeq, Aug 2012] PHENOTYPE: Mice homozygous for a knock-out allele exhibit no abnormal phenotype. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 25 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc5 |
C |
A |
16: 20,193,863 (GRCm39) |
V753L |
probably damaging |
Het |
Ap3b1 |
T |
C |
13: 94,702,151 (GRCm39) |
L1068P |
unknown |
Het |
Cacna1h |
C |
A |
17: 25,652,108 (GRCm39) |
R12L |
probably damaging |
Het |
Ccdc170 |
T |
C |
10: 4,468,931 (GRCm39) |
S160P |
probably damaging |
Het |
Cdc37 |
T |
C |
9: 21,054,487 (GRCm39) |
E46G |
possibly damaging |
Het |
Cltc |
T |
C |
11: 86,621,158 (GRCm39) |
H287R |
probably damaging |
Het |
Dsg1a |
A |
T |
18: 20,473,549 (GRCm39) |
D874V |
probably damaging |
Het |
Gjd4 |
G |
T |
18: 9,280,811 (GRCm39) |
S89* |
probably null |
Het |
Gkn3 |
C |
T |
6: 87,360,507 (GRCm39) |
A163T |
probably damaging |
Het |
Hydin |
A |
G |
8: 111,329,848 (GRCm39) |
R4861G |
possibly damaging |
Het |
Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 53,032,934 (GRCm39) |
74 |
probably benign |
Het |
Lipe |
T |
C |
7: 25,084,320 (GRCm39) |
E588G |
possibly damaging |
Het |
Mael |
T |
C |
1: 166,032,375 (GRCm39) |
D328G |
probably damaging |
Het |
Mboat7 |
A |
G |
7: 3,681,687 (GRCm39) |
V398A |
probably benign |
Het |
Slc35e1 |
A |
G |
8: 73,238,735 (GRCm39) |
W258R |
probably benign |
Het |
Slc9a8 |
A |
G |
2: 167,293,201 (GRCm39) |
D183G |
probably damaging |
Het |
Sorcs1 |
G |
A |
19: 50,213,613 (GRCm39) |
R705C |
probably damaging |
Het |
Sult3a1 |
G |
A |
10: 33,753,345 (GRCm39) |
D214N |
possibly damaging |
Het |
Traf3ip1 |
T |
C |
1: 91,447,822 (GRCm39) |
V433A |
probably damaging |
Het |
Ubxn7 |
T |
A |
16: 32,194,125 (GRCm39) |
D232E |
probably benign |
Het |
Upf1 |
C |
T |
8: 70,791,110 (GRCm39) |
R544H |
probably damaging |
Het |
Vps13c |
T |
C |
9: 67,831,052 (GRCm39) |
S1561P |
probably benign |
Het |
Wdr48 |
T |
C |
9: 119,753,176 (GRCm39) |
V593A |
probably benign |
Het |
Zfp58 |
A |
G |
13: 67,640,231 (GRCm39) |
F87L |
probably benign |
Het |
Zfp663 |
A |
T |
2: 165,195,616 (GRCm39) |
L201* |
probably null |
Het |
|
Other mutations in Cbln4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00428:Cbln4
|
APN |
2 |
171,880,970 (GRCm39) |
missense |
probably benign |
0.44 |
IGL02156:Cbln4
|
APN |
2 |
171,884,128 (GRCm39) |
missense |
probably benign |
0.24 |
R1035:Cbln4
|
UTSW |
2 |
171,883,989 (GRCm39) |
missense |
possibly damaging |
0.78 |
R1352:Cbln4
|
UTSW |
2 |
171,879,376 (GRCm39) |
missense |
possibly damaging |
0.89 |
R4013:Cbln4
|
UTSW |
2 |
171,879,477 (GRCm39) |
missense |
probably damaging |
0.98 |
R4881:Cbln4
|
UTSW |
2 |
171,884,059 (GRCm39) |
missense |
possibly damaging |
0.78 |
R4934:Cbln4
|
UTSW |
2 |
171,880,901 (GRCm39) |
missense |
probably damaging |
1.00 |
R6084:Cbln4
|
UTSW |
2 |
171,884,016 (GRCm39) |
missense |
probably damaging |
1.00 |
R7138:Cbln4
|
UTSW |
2 |
171,884,095 (GRCm39) |
missense |
probably damaging |
1.00 |
R9695:Cbln4
|
UTSW |
2 |
171,879,469 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Predicted Primers |
PCR Primer
(F):5'- GGGAGTCTGACCTGATCAAAG -3'
(R):5'- TCAGTCCTGAGAATTGGTGGAAG -3'
Sequencing Primer
(F):5'- CCTGATCAAAGTAAATGATGCGAGTC -3'
(R):5'- TGCAGCGCTGTCGATCTAG -3'
|
Posted On |
2015-02-05 |