Incidental Mutation 'IGL02404:Cnbd1'
| ID |
292014 |
| 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 # |
IGL02404
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
18860454-19122526 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 18895047 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 232
(S232G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121576
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000137780]
|
| AlphaFold |
B1AWM0 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133363
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000137780
AA Change: S232G
PolyPhen 2
Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000121576
Gene: ENSMUSG00000073991
AA Change: S232G
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy6 |
T |
C |
15: 98,494,819 (GRCm39) |
I745V |
probably benign |
Het |
| Alppl2 |
A |
G |
1: 87,016,585 (GRCm39) |
V163A |
possibly damaging |
Het |
| Atad2b |
T |
A |
12: 4,991,972 (GRCm39) |
S190R |
probably benign |
Het |
| Cep68 |
A |
G |
11: 20,190,004 (GRCm39) |
V336A |
possibly damaging |
Het |
| Clcn4 |
A |
C |
7: 7,290,857 (GRCm39) |
N587K |
probably benign |
Het |
| Clic1 |
A |
G |
17: 35,271,852 (GRCm39) |
E82G |
probably damaging |
Het |
| Cplane1 |
T |
C |
15: 8,216,768 (GRCm39) |
I662T |
possibly damaging |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Daw1 |
A |
G |
1: 83,174,952 (GRCm39) |
T151A |
probably benign |
Het |
| Dysf |
A |
G |
6: 84,093,043 (GRCm39) |
E1052G |
probably damaging |
Het |
| Gpr12 |
G |
A |
5: 146,520,733 (GRCm39) |
A63V |
probably damaging |
Het |
| Inmt |
C |
T |
6: 55,148,095 (GRCm39) |
R178Q |
possibly damaging |
Het |
| Metap1 |
A |
T |
3: 138,195,069 (GRCm39) |
C22S |
probably damaging |
Het |
| Mst1r |
A |
T |
9: 107,790,266 (GRCm39) |
|
probably benign |
Het |
| Or2ag17 |
A |
C |
7: 106,389,566 (GRCm39) |
I214S |
probably damaging |
Het |
| Phkb |
T |
C |
8: 86,604,744 (GRCm39) |
S58P |
possibly damaging |
Het |
| Pigs |
T |
A |
11: 78,230,857 (GRCm39) |
I368N |
probably benign |
Het |
| Plekhm1 |
C |
T |
11: 103,285,824 (GRCm39) |
D204N |
probably benign |
Het |
| Pot1a |
A |
T |
6: 25,764,431 (GRCm39) |
|
probably benign |
Het |
| Rps4l |
A |
G |
6: 148,256,277 (GRCm39) |
|
probably benign |
Het |
| Scn8a |
T |
A |
15: 100,937,611 (GRCm39) |
M1660K |
probably damaging |
Het |
| Sec31b |
A |
C |
19: 44,523,227 (GRCm39) |
V23G |
probably damaging |
Het |
| Sorcs3 |
T |
C |
19: 48,692,809 (GRCm39) |
|
probably benign |
Het |
| Thap12 |
A |
G |
7: 98,359,340 (GRCm39) |
Y73C |
probably damaging |
Het |
| Thsd7b |
G |
A |
1: 129,540,888 (GRCm39) |
C254Y |
probably damaging |
Het |
| Tmem214 |
G |
A |
5: 31,030,090 (GRCm39) |
A296T |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,770,322 (GRCm39) |
N2623I |
possibly damaging |
Het |
| Ulk1 |
A |
T |
5: 110,944,100 (GRCm39) |
|
probably null |
Het |
| Vps13d |
T |
C |
4: 144,875,305 (GRCm39) |
Y1734C |
probably damaging |
Het |
| Vsig10l |
A |
G |
7: 43,113,171 (GRCm39) |
D143G |
possibly damaging |
Het |
| Wac |
A |
G |
18: 7,917,570 (GRCm39) |
T347A |
probably damaging |
Het |
| Wdr62 |
G |
T |
7: 29,967,298 (GRCm39) |
R319S |
probably damaging |
Het |
| Zfp668 |
T |
C |
7: 127,465,532 (GRCm39) |
K551E |
probably damaging |
Het |
|
| Other mutations in Cnbd1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00966:Cnbd1
|
APN |
4 |
18,906,988 (GRCm39) |
splice site |
probably benign |
|
|
IGL01101:Cnbd1
|
APN |
4 |
18,907,098 (GRCm39) |
missense |
probably benign |
0.30 |
|
IGL01365:Cnbd1
|
APN |
4 |
18,860,576 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01646:Cnbd1
|
APN |
4 |
18,895,141 (GRCm39) |
nonsense |
probably null |
|
|
IGL02106:Cnbd1
|
APN |
4 |
18,894,993 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
IGL02218:Cnbd1
|
APN |
4 |
18,887,739 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02335:Cnbd1
|
APN |
4 |
19,055,095 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL02380:Cnbd1
|
APN |
4 |
18,887,749 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL02380:Cnbd1
|
APN |
4 |
18,887,748 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL03293:Cnbd1
|
APN |
4 |
18,860,565 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
IGL03301:Cnbd1
|
APN |
4 |
19,055,039 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03342:Cnbd1
|
APN |
4 |
19,098,264 (GRCm39) |
splice site |
probably benign |
|
|
IGL03392:Cnbd1
|
APN |
4 |
18,862,111 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0062:Cnbd1
|
UTSW |
4 |
18,860,504 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R0062:Cnbd1
|
UTSW |
4 |
18,860,504 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R0195:Cnbd1
|
UTSW |
4 |
18,906,988 (GRCm39) |
splice site |
probably benign |
|
|
R0462:Cnbd1
|
UTSW |
4 |
18,895,044 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0909:Cnbd1
|
UTSW |
4 |
19,122,444 (GRCm39) |
missense |
probably benign |
|
|
R1435:Cnbd1
|
UTSW |
4 |
18,907,026 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1995:Cnbd1
|
UTSW |
4 |
19,055,112 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R2495:Cnbd1
|
UTSW |
4 |
18,860,579 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3974:Cnbd1
|
UTSW |
4 |
18,887,693 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4083:Cnbd1
|
UTSW |
4 |
18,886,042 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4494:Cnbd1
|
UTSW |
4 |
19,098,150 (GRCm39) |
missense |
probably benign |
0.34 |
|
R4558:Cnbd1
|
UTSW |
4 |
19,055,095 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R4833:Cnbd1
|
UTSW |
4 |
18,862,120 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5326:Cnbd1
|
UTSW |
4 |
18,860,517 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R5542:Cnbd1
|
UTSW |
4 |
18,860,517 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R5930:Cnbd1
|
UTSW |
4 |
18,886,119 (GRCm39) |
missense |
probably benign |
0.14 |
|
R5958:Cnbd1
|
UTSW |
4 |
18,862,056 (GRCm39) |
missense |
probably benign |
0.31 |
|
R6064:Cnbd1
|
UTSW |
4 |
18,895,084 (GRCm39) |
missense |
probably benign |
0.14 |
|
R6250:Cnbd1
|
UTSW |
4 |
19,098,255 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6348:Cnbd1
|
UTSW |
4 |
18,860,462 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7027:Cnbd1
|
UTSW |
4 |
18,862,063 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7905:Cnbd1
|
UTSW |
4 |
18,907,100 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R8434:Cnbd1
|
UTSW |
4 |
19,055,045 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9066:Cnbd1
|
UTSW |
4 |
19,098,181 (GRCm39) |
missense |
probably benign |
0.35 |
|
R9098:Cnbd1
|
UTSW |
4 |
18,886,061 (GRCm39) |
nonsense |
probably null |
|
|
R9225:Cnbd1
|
UTSW |
4 |
18,907,010 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9248:Cnbd1
|
UTSW |
4 |
18,862,113 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R9307:Cnbd1
|
UTSW |
4 |
18,887,647 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9419:Cnbd1
|
UTSW |
4 |
19,098,156 (GRCm39) |
missense |
probably benign |
0.11 |
|
R9648:Cnbd1
|
UTSW |
4 |
19,098,142 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation