Incidental Mutation 'IGL02933:Cnpy1'
| ID |
364186 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cnpy1
|
| Ensembl Gene |
ENSMUSG00000044681 |
| Gene Name |
canopy FGF signaling regulator 1 |
| Synonyms |
9630008K15Rik, 1500012D20Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02933
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
28405817-28450786 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 28412119 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 138
(H138L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112773
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000117098]
[ENSMUST00000118882]
[ENSMUST00000120068]
[ENSMUST00000141196]
[ENSMUST00000141601]
|
| AlphaFold |
Q4VAB4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000117098
AA Change: H138L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000113956
Gene: ENSMUSG00000044681
AA Change: H138L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3456
|
1 |
85 |
4.3e-12 |
PFAM |
|
transmembrane domain
|
142 |
164 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000118882
|
| SMART Domains |
Protein: ENSMUSP00000113944
Gene: ENSMUSG00000044681
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3456
|
1 |
86 |
7.8e-16 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000120068
AA Change: H138L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000112773
Gene: ENSMUSG00000044681
AA Change: H138L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3456
|
1 |
86 |
7.1e-13 |
PFAM |
|
transmembrane domain
|
142 |
164 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000141196
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000141601
|
| SMART Domains |
Protein: ENSMUSP00000122171
Gene: ENSMUSG00000044681
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3456
|
1 |
86 |
7.8e-16 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Cnpy1 is expressed in the midbrain-hindbrain (MHB) boundary in zebrafish, binds FGFR1 (MIM 136350), and plays a role in FGF signaling (Hirate and Okamoto, 2006 [PubMed 16488878]).[supplied by OMIM, Dec 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700008O03Rik |
G |
T |
7: 44,012,436 (GRCm39) |
S24Y |
possibly damaging |
Het |
| Adam15 |
T |
C |
3: 89,250,790 (GRCm39) |
T609A |
possibly damaging |
Het |
| Ank1 |
C |
T |
8: 23,612,881 (GRCm39) |
T1485I |
possibly damaging |
Het |
| Bbof1 |
A |
G |
12: 84,473,740 (GRCm39) |
N357D |
probably damaging |
Het |
| Btn1a1 |
A |
G |
13: 23,644,697 (GRCm39) |
F267S |
possibly damaging |
Het |
| C2cd2 |
A |
T |
16: 97,693,401 (GRCm39) |
F157I |
probably benign |
Het |
| Cd55 |
T |
C |
1: 130,380,261 (GRCm39) |
E239G |
probably damaging |
Het |
| Cpne4 |
T |
C |
9: 104,896,966 (GRCm39) |
V373A |
possibly damaging |
Het |
| Dlg5 |
A |
T |
14: 24,208,567 (GRCm39) |
S880T |
probably benign |
Het |
| Etv1 |
C |
T |
12: 38,831,832 (GRCm39) |
T27I |
probably benign |
Het |
| Fam227b |
T |
A |
2: 125,965,908 (GRCm39) |
|
probably null |
Het |
| Flcn |
T |
C |
11: 59,694,583 (GRCm39) |
S130G |
probably damaging |
Het |
| Flvcr2 |
T |
C |
12: 85,849,902 (GRCm39) |
|
probably benign |
Het |
| Git1 |
C |
A |
11: 77,391,902 (GRCm39) |
H241Q |
probably damaging |
Het |
| Gm14496 |
T |
A |
2: 181,642,256 (GRCm39) |
H642Q |
probably benign |
Het |
| Idh1 |
C |
T |
1: 65,201,072 (GRCm39) |
S293N |
probably damaging |
Het |
| Itpr2 |
A |
G |
6: 146,214,402 (GRCm39) |
S1449P |
probably benign |
Het |
| Mmel1 |
T |
A |
4: 154,968,087 (GRCm39) |
L141Q |
probably damaging |
Het |
| Morn4 |
A |
G |
19: 42,064,661 (GRCm39) |
I109T |
probably benign |
Het |
| Mrgprh |
T |
C |
17: 13,096,596 (GRCm39) |
Y279H |
probably damaging |
Het |
| Or1ak2 |
T |
A |
2: 36,827,310 (GRCm39) |
Y60N |
probably damaging |
Het |
| Osbpl8 |
T |
C |
10: 111,117,991 (GRCm39) |
I578T |
probably damaging |
Het |
| Reg2 |
A |
G |
6: 78,384,917 (GRCm39) |
Y153C |
probably damaging |
Het |
| Sall2 |
T |
C |
14: 52,550,484 (GRCm39) |
S902G |
probably benign |
Het |
| Sesn3 |
C |
T |
9: 14,232,504 (GRCm39) |
T259M |
probably damaging |
Het |
| Traf1 |
C |
A |
2: 34,839,107 (GRCm39) |
D73Y |
possibly damaging |
Het |
| Trnt1 |
G |
A |
6: 106,750,387 (GRCm39) |
G97D |
probably benign |
Het |
| Ttll11 |
T |
C |
2: 35,869,422 (GRCm39) |
H72R |
probably benign |
Het |
| Txndc12 |
T |
C |
4: 108,715,193 (GRCm39) |
|
probably null |
Het |
| Zan |
C |
A |
5: 137,426,676 (GRCm39) |
S2490I |
unknown |
Het |
| Zfp955a |
T |
C |
17: 33,462,683 (GRCm39) |
|
probably null |
Het |
| Zfyve26 |
A |
C |
12: 79,326,854 (GRCm39) |
S756R |
possibly damaging |
Het |
| Zmynd8 |
T |
C |
2: 165,670,238 (GRCm39) |
N412S |
possibly damaging |
Het |
|
| Other mutations in Cnpy1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00985:Cnpy1
|
APN |
5 |
28,414,152 (GRCm39) |
nonsense |
probably null |
|
|
R3508:Cnpy1
|
UTSW |
5 |
28,412,365 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4851:Cnpy1
|
UTSW |
5 |
28,450,738 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6003:Cnpy1
|
UTSW |
5 |
28,450,759 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7649:Cnpy1
|
UTSW |
5 |
28,412,282 (GRCm39) |
missense |
probably benign |
0.44 |
|
R8412:Cnpy1
|
UTSW |
5 |
28,414,206 (GRCm39) |
nonsense |
probably null |
|
|
R8416:Cnpy1
|
UTSW |
5 |
28,408,423 (GRCm39) |
missense |
probably benign |
|
|
R9182:Cnpy1
|
UTSW |
5 |
28,450,799 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9746:Cnpy1
|
UTSW |
5 |
28,450,800 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Cnpy1
|
UTSW |
5 |
28,412,207 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
| Posted On |
2015-12-18 |
Incidental Mutation