Incidental Mutation 'IGL02335:Cnbd1'
| ID |
289704 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cnbd1
|
| Ensembl Gene |
ENSMUSG00000073991 |
| Gene Name |
cyclic nucleotide binding domain containing 1 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02335
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
18860454-19122526 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 19055095 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 110
(N110K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121576
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000137780]
|
| AlphaFold |
B1AWM0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000137780
AA Change: N110K
PolyPhen 2
Score 0.869 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000121576
Gene: ENSMUSG00000073991
AA Change: N110K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
34 |
N/A |
INTRINSIC |
|
Blast:cNMP
|
166 |
225 |
6e-6 |
BLAST |
|
SCOP:d1cx4a1
|
296 |
430 |
3e-13 |
SMART |
|
Blast:cNMP
|
318 |
429 |
2e-60 |
BLAST |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5830411N06Rik |
A |
T |
7: 140,296,540 (GRCm38) |
N526Y |
probably damaging |
Het |
| A4gnt |
C |
T |
9: 99,620,213 (GRCm38) |
T142I |
probably benign |
Het |
| Acaca |
A |
G |
11: 84,214,258 (GRCm38) |
T147A |
possibly damaging |
Het |
| Agbl3 |
A |
G |
6: 34,799,750 (GRCm38) |
D397G |
probably damaging |
Het |
| Ank1 |
C |
T |
8: 23,135,638 (GRCm38) |
T1597M |
possibly damaging |
Het |
| Arl4d |
A |
G |
11: 101,666,929 (GRCm38) |
T94A |
possibly damaging |
Het |
| Cd22 |
A |
G |
7: 30,876,134 (GRCm38) |
I161T |
probably damaging |
Het |
| Clcn7 |
C |
T |
17: 25,146,847 (GRCm38) |
L166F |
probably benign |
Het |
| Col14a1 |
A |
T |
15: 55,463,769 (GRCm38) |
|
probably benign |
Het |
| Col6a6 |
C |
T |
9: 105,784,101 (GRCm38) |
V270M |
probably damaging |
Het |
| Cox8b |
C |
A |
7: 140,899,077 (GRCm38) |
G42W |
probably damaging |
Het |
| Csn1s1 |
A |
T |
5: 87,680,845 (GRCm38) |
D275V |
probably benign |
Het |
| Cubn |
T |
A |
2: 13,427,834 (GRCm38) |
|
probably null |
Het |
| Dctn2 |
T |
C |
10: 127,275,821 (GRCm38) |
|
probably benign |
Het |
| Dnm1l |
A |
G |
16: 16,342,740 (GRCm38) |
|
probably benign |
Het |
| Dpp4 |
T |
C |
2: 62,334,644 (GRCm38) |
E687G |
probably benign |
Het |
| Fbxw20 |
T |
C |
9: 109,223,309 (GRCm38) |
K249E |
possibly damaging |
Het |
| Fhl2 |
C |
T |
1: 43,128,390 (GRCm38) |
W181* |
probably null |
Het |
| G2e3 |
T |
A |
12: 51,369,158 (GRCm38) |
M559K |
probably benign |
Het |
| Gdap1l1 |
A |
T |
2: 163,447,595 (GRCm38) |
Y160F |
possibly damaging |
Het |
| Gm1110 |
T |
C |
9: 26,881,763 (GRCm38) |
I572M |
probably benign |
Het |
| Gm5538 |
G |
A |
3: 59,743,605 (GRCm38) |
M49I |
probably benign |
Het |
| Gpatch2l |
T |
A |
12: 86,256,937 (GRCm38) |
|
probably benign |
Het |
| Kcnq4 |
A |
G |
4: 120,715,854 (GRCm38) |
L250P |
probably damaging |
Het |
| Lamc2 |
A |
T |
1: 153,166,216 (GRCm38) |
N57K |
probably benign |
Het |
| Lingo1 |
A |
G |
9: 56,620,081 (GRCm38) |
L408P |
probably damaging |
Het |
| Mmrn1 |
A |
T |
6: 60,977,147 (GRCm38) |
N804I |
possibly damaging |
Het |
| Mroh7 |
A |
G |
4: 106,707,782 (GRCm38) |
L545S |
probably damaging |
Het |
| Nup188 |
T |
A |
2: 30,323,636 (GRCm38) |
|
probably null |
Het |
| Olfr1442 |
T |
C |
19: 12,674,238 (GRCm38) |
I11T |
probably damaging |
Het |
| Olfr1494 |
A |
G |
19: 13,749,934 (GRCm38) |
D276G |
probably benign |
Het |
| Olfr96 |
A |
G |
17: 37,225,326 (GRCm38) |
N67S |
probably damaging |
Het |
| Pls1 |
A |
T |
9: 95,784,183 (GRCm38) |
N138K |
probably benign |
Het |
| Prkch |
C |
A |
12: 73,702,512 (GRCm38) |
N345K |
probably benign |
Het |
| Reps1 |
T |
C |
10: 18,056,117 (GRCm38) |
|
probably null |
Het |
| Rrp7a |
T |
C |
15: 83,122,691 (GRCm38) |
E15G |
probably benign |
Het |
| Scn1a |
T |
A |
2: 66,277,661 (GRCm38) |
T1557S |
possibly damaging |
Het |
| Smtn |
T |
C |
11: 3,526,215 (GRCm38) |
E602G |
probably damaging |
Het |
| Syvn1 |
T |
C |
19: 6,050,093 (GRCm38) |
|
probably null |
Het |
| Tbxas1 |
A |
G |
6: 39,023,080 (GRCm38) |
D267G |
probably damaging |
Het |
| Topbp1 |
A |
G |
9: 103,328,523 (GRCm38) |
N787D |
probably damaging |
Het |
| Vmn2r22 |
T |
G |
6: 123,638,092 (GRCm38) |
S180R |
probably damaging |
Het |
| Zfp345 |
T |
A |
2: 150,474,543 (GRCm38) |
E48D |
possibly damaging |
Het |
| Zfp608 |
G |
A |
18: 54,897,437 (GRCm38) |
Q1144* |
probably null |
Het |
| Zfp936 |
T |
A |
7: 43,187,267 (GRCm38) |
L34Q |
probably damaging |
Het |
|
| Other mutations in Cnbd1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00966:Cnbd1
|
APN |
4 |
18,906,988 (GRCm38) |
splice site |
probably benign |
|
|
IGL01101:Cnbd1
|
APN |
4 |
18,907,098 (GRCm38) |
missense |
probably benign |
0.30 |
|
IGL01365:Cnbd1
|
APN |
4 |
18,860,576 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01646:Cnbd1
|
APN |
4 |
18,895,141 (GRCm38) |
nonsense |
probably null |
|
|
IGL02106:Cnbd1
|
APN |
4 |
18,894,993 (GRCm38) |
missense |
possibly damaging |
0.55 |
|
IGL02218:Cnbd1
|
APN |
4 |
18,887,739 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02380:Cnbd1
|
APN |
4 |
18,887,749 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
IGL02380:Cnbd1
|
APN |
4 |
18,887,748 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
IGL02404:Cnbd1
|
APN |
4 |
18,895,047 (GRCm38) |
missense |
possibly damaging |
0.64 |
|
IGL03293:Cnbd1
|
APN |
4 |
18,860,565 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
IGL03301:Cnbd1
|
APN |
4 |
19,055,039 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL03342:Cnbd1
|
APN |
4 |
19,098,264 (GRCm38) |
splice site |
probably benign |
|
|
IGL03392:Cnbd1
|
APN |
4 |
18,862,111 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0062:Cnbd1
|
UTSW |
4 |
18,860,504 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
R0062:Cnbd1
|
UTSW |
4 |
18,860,504 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
R0195:Cnbd1
|
UTSW |
4 |
18,906,988 (GRCm38) |
splice site |
probably benign |
|
|
R0462:Cnbd1
|
UTSW |
4 |
18,895,044 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0909:Cnbd1
|
UTSW |
4 |
19,122,444 (GRCm38) |
missense |
probably benign |
|
|
R1435:Cnbd1
|
UTSW |
4 |
18,907,026 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1995:Cnbd1
|
UTSW |
4 |
19,055,112 (GRCm38) |
missense |
possibly damaging |
0.55 |
|
R2495:Cnbd1
|
UTSW |
4 |
18,860,579 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3974:Cnbd1
|
UTSW |
4 |
18,887,693 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4083:Cnbd1
|
UTSW |
4 |
18,886,042 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R4494:Cnbd1
|
UTSW |
4 |
19,098,150 (GRCm38) |
missense |
probably benign |
0.34 |
|
R4558:Cnbd1
|
UTSW |
4 |
19,055,095 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R4833:Cnbd1
|
UTSW |
4 |
18,862,120 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R5326:Cnbd1
|
UTSW |
4 |
18,860,517 (GRCm38) |
missense |
possibly damaging |
0.67 |
|
R5542:Cnbd1
|
UTSW |
4 |
18,860,517 (GRCm38) |
missense |
possibly damaging |
0.67 |
|
R5930:Cnbd1
|
UTSW |
4 |
18,886,119 (GRCm38) |
missense |
probably benign |
0.14 |
|
R5958:Cnbd1
|
UTSW |
4 |
18,862,056 (GRCm38) |
missense |
probably benign |
0.31 |
|
R6064:Cnbd1
|
UTSW |
4 |
18,895,084 (GRCm38) |
missense |
probably benign |
0.14 |
|
R6250:Cnbd1
|
UTSW |
4 |
19,098,255 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6348:Cnbd1
|
UTSW |
4 |
18,860,462 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7027:Cnbd1
|
UTSW |
4 |
18,862,063 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7905:Cnbd1
|
UTSW |
4 |
18,907,100 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R8434:Cnbd1
|
UTSW |
4 |
19,055,045 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9066:Cnbd1
|
UTSW |
4 |
19,098,181 (GRCm38) |
missense |
probably benign |
0.35 |
|
R9098:Cnbd1
|
UTSW |
4 |
18,886,061 (GRCm38) |
nonsense |
probably null |
|
|
R9225:Cnbd1
|
UTSW |
4 |
18,907,010 (GRCm38) |
missense |
probably benign |
0.08 |
|
R9248:Cnbd1
|
UTSW |
4 |
18,862,113 (GRCm38) |
missense |
possibly damaging |
0.48 |
|
R9307:Cnbd1
|
UTSW |
4 |
18,887,647 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9419:Cnbd1
|
UTSW |
4 |
19,098,156 (GRCm38) |
missense |
probably benign |
0.11 |
|
R9648:Cnbd1
|
UTSW |
4 |
19,098,142 (GRCm38) |
critical splice donor site |
probably null |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation