Incidental Mutation 'R4558:Cnbd1'
ID |
342938 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cnbd1
|
Ensembl Gene |
ENSMUSG00000073991 |
Gene Name |
cyclic nucleotide binding domain containing 1 |
Synonyms |
|
MMRRC Submission |
042005-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4558 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
18860454-19122526 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 19055095 bp (GRCm39)
|
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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
Validation Efficiency |
100% (36/36) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700017G19Rik |
A |
G |
3: 40,567,240 (GRCm39) |
|
noncoding transcript |
Het |
A830018L16Rik |
C |
A |
1: 12,042,300 (GRCm39) |
S440* |
probably null |
Het |
Acot11 |
T |
C |
4: 106,605,563 (GRCm39) |
N583S |
probably damaging |
Het |
Alox12 |
T |
G |
11: 70,143,889 (GRCm39) |
M164L |
probably benign |
Het |
Atad2b |
A |
G |
12: 4,993,223 (GRCm39) |
I247M |
probably benign |
Het |
Bmpr2 |
T |
A |
1: 59,884,851 (GRCm39) |
M279K |
probably damaging |
Het |
Cacna2d3 |
T |
C |
14: 28,825,670 (GRCm39) |
T502A |
possibly damaging |
Het |
Casp12 |
A |
T |
9: 5,352,742 (GRCm39) |
Y188F |
probably damaging |
Het |
Catsperb |
A |
G |
12: 101,557,799 (GRCm39) |
Y790C |
possibly damaging |
Het |
Entrep1 |
G |
A |
19: 24,007,913 (GRCm39) |
S130L |
probably damaging |
Het |
Fam227b |
C |
T |
2: 125,968,963 (GRCm39) |
S37N |
probably benign |
Het |
Fsip2 |
T |
C |
2: 82,815,297 (GRCm39) |
S3677P |
possibly damaging |
Het |
Gm10764 |
A |
G |
10: 87,126,682 (GRCm39) |
|
noncoding transcript |
Het |
H2-Q6 |
T |
C |
17: 35,647,291 (GRCm39) |
V312A |
probably benign |
Het |
Hecw1 |
T |
A |
13: 14,422,190 (GRCm39) |
D972V |
probably damaging |
Het |
Kalrn |
G |
A |
16: 33,807,578 (GRCm39) |
T2597I |
possibly damaging |
Het |
Kng1 |
C |
A |
16: 22,896,168 (GRCm39) |
|
probably null |
Het |
Med13 |
T |
C |
11: 86,189,880 (GRCm39) |
T1010A |
probably damaging |
Het |
Nbeal1 |
C |
T |
1: 60,320,469 (GRCm39) |
R2021* |
probably null |
Het |
Ncapg |
A |
T |
5: 45,833,986 (GRCm39) |
T341S |
probably benign |
Het |
Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
Pabir2 |
G |
A |
X: 52,349,554 (GRCm39) |
|
probably benign |
Het |
Pcdhb4 |
A |
G |
18: 37,443,017 (GRCm39) |
I776V |
probably benign |
Het |
Ppp4r4 |
T |
C |
12: 103,573,192 (GRCm39) |
V697A |
probably benign |
Het |
Pramel13 |
T |
C |
4: 144,122,542 (GRCm39) |
M1V |
probably null |
Het |
Psd4 |
G |
A |
2: 24,294,806 (GRCm39) |
V789M |
probably damaging |
Het |
Rasa3 |
T |
C |
8: 13,648,259 (GRCm39) |
E135G |
probably damaging |
Het |
Serpinb9c |
T |
A |
13: 33,338,482 (GRCm39) |
E139V |
probably benign |
Het |
Sgsm1 |
G |
A |
5: 113,405,977 (GRCm39) |
|
probably benign |
Het |
Tmem161b |
A |
G |
13: 84,399,363 (GRCm39) |
I6M |
possibly damaging |
Het |
Upf2 |
A |
G |
2: 5,978,404 (GRCm39) |
M423V |
unknown |
Het |
Vmn1r207 |
A |
G |
13: 22,910,581 (GRCm39) |
|
noncoding transcript |
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 |
|
IGL02404:Cnbd1
|
APN |
4 |
18,895,047 (GRCm39) |
missense |
possibly damaging |
0.64 |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- GCACATGCATTTTCAAGCAAC -3'
(R):5'- TGGTAACACCACTGACAAATAGGTTTG -3'
Sequencing Primer
(F):5'- TGCATTTTCAAGCAACCAACAC -3'
(R):5'- ACTTCTAAACTTAGGGTACAATGGAG -3'
|
Posted On |
2015-09-24 |