Incidental Mutation 'R9066:Cnbd1'
| ID |
689254 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cnbd1
|
| Ensembl Gene |
ENSMUSG00000073991 |
| Gene Name |
cyclic nucleotide binding domain containing 1 |
| Synonyms |
|
| MMRRC Submission |
068891-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9066 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
18860454-19122526 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 19098181 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 80
(T80A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121576
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000137780]
|
| AlphaFold |
B1AWM0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000137780
AA Change: T80A
PolyPhen 2
Score 0.346 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000121576
Gene: ENSMUSG00000073991
AA Change: T80A
| 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 |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
96% (46/48) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca7 |
A |
G |
10: 79,849,188 (GRCm39) |
T1858A |
probably damaging |
Het |
| Atp1a1 |
A |
G |
3: 101,489,338 (GRCm39) |
I758T |
probably damaging |
Het |
| Atp2c1 |
T |
C |
9: 105,330,845 (GRCm39) |
E225G |
probably damaging |
Het |
| Clec7a |
A |
C |
6: 129,444,491 (GRCm39) |
S115A |
probably benign |
Het |
| Ctu1 |
A |
G |
7: 43,326,019 (GRCm39) |
H226R |
possibly damaging |
Het |
| Dctn4 |
T |
C |
18: 60,659,387 (GRCm39) |
F29L |
probably damaging |
Het |
| Dnajb2 |
A |
G |
1: 75,217,874 (GRCm39) |
T169A |
|
Het |
| Efcab3 |
T |
A |
11: 104,631,688 (GRCm39) |
|
probably benign |
Het |
| Esf1 |
A |
T |
2: 139,990,693 (GRCm39) |
M597K |
probably benign |
Het |
| Fzd7 |
C |
T |
1: 59,521,991 (GRCm39) |
|
probably benign |
Het |
| Gapvd1 |
C |
A |
2: 34,617,297 (GRCm39) |
Q349H |
probably damaging |
Het |
| Garin5b |
T |
C |
7: 4,773,518 (GRCm39) |
|
probably benign |
Het |
| Gata5 |
A |
G |
2: 179,968,761 (GRCm39) |
F371S |
|
Het |
| Gm572 |
A |
T |
4: 148,751,278 (GRCm39) |
Q217L |
possibly damaging |
Het |
| Igkv14-130 |
T |
A |
6: 67,768,219 (GRCm39) |
M26K |
probably damaging |
Het |
| Jchain |
T |
G |
5: 88,675,638 (GRCm39) |
M1L |
probably benign |
Het |
| Kcnj14 |
G |
A |
7: 45,469,073 (GRCm39) |
T144M |
probably damaging |
Het |
| Kirrel2 |
C |
A |
7: 30,153,454 (GRCm39) |
A302S |
probably damaging |
Het |
| Klhl29 |
C |
T |
12: 5,260,114 (GRCm39) |
V35I |
probably benign |
Het |
| Kndc1 |
C |
T |
7: 139,507,708 (GRCm39) |
S1222F |
possibly damaging |
Het |
| Lgi4 |
A |
C |
7: 30,759,446 (GRCm39) |
M1L |
probably benign |
Het |
| Ncr1 |
A |
G |
7: 4,347,552 (GRCm39) |
D276G |
probably benign |
Het |
| Nfatc3 |
T |
A |
8: 106,825,782 (GRCm39) |
M619K |
probably benign |
Het |
| Nudcd1 |
A |
T |
15: 44,243,588 (GRCm39) |
F441I |
probably damaging |
Het |
| Nxt2 |
C |
T |
X: 141,020,747 (GRCm39) |
A118V |
possibly damaging |
Het |
| Or10a3n |
A |
T |
7: 108,493,253 (GRCm39) |
Y125* |
probably null |
Het |
| Or8b12 |
T |
G |
9: 37,657,871 (GRCm39) |
V147G |
possibly damaging |
Het |
| Pop1 |
A |
T |
15: 34,516,060 (GRCm39) |
Q586L |
possibly damaging |
Het |
| Prss3b |
C |
T |
6: 41,008,640 (GRCm39) |
G225R |
probably benign |
Het |
| Rcbtb1 |
T |
G |
14: 59,462,206 (GRCm39) |
I279S |
possibly damaging |
Het |
| Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,118 (GRCm39) |
|
probably benign |
Het |
| Serpine3 |
A |
G |
14: 62,929,555 (GRCm39) |
D401G |
probably damaging |
Het |
| Slc25a4 |
A |
G |
8: 46,662,115 (GRCm39) |
V181A |
probably damaging |
Het |
| Slc26a2 |
T |
G |
18: 61,335,130 (GRCm39) |
I108L |
probably benign |
Het |
| Slc27a5 |
A |
C |
7: 12,722,530 (GRCm39) |
V648G |
possibly damaging |
Het |
| Slc2a7 |
T |
C |
4: 150,250,872 (GRCm39) |
F431S |
probably damaging |
Het |
| Sox11 |
T |
C |
12: 27,391,422 (GRCm39) |
H329R |
possibly damaging |
Het |
| Speg |
G |
A |
1: 75,361,654 (GRCm39) |
G223R |
probably damaging |
Het |
| Synpo2 |
G |
A |
3: 122,911,133 (GRCm39) |
H171Y |
possibly damaging |
Het |
| Tle6 |
G |
T |
10: 81,430,212 (GRCm39) |
N323K |
possibly damaging |
Het |
| Ugt3a1 |
A |
T |
15: 9,367,384 (GRCm39) |
M376L |
possibly damaging |
Het |
| Unc13d |
T |
C |
11: 115,957,561 (GRCm39) |
K798R |
probably benign |
Het |
| Vasp |
A |
T |
7: 18,998,433 (GRCm39) |
H80Q |
probably damaging |
Het |
| Vmn2r28 |
T |
C |
7: 5,491,596 (GRCm39) |
D217G |
probably damaging |
Het |
| Vps41 |
T |
C |
13: 19,008,018 (GRCm39) |
S284P |
probably damaging |
Het |
| Zer1 |
A |
C |
2: 30,000,686 (GRCm39) |
L245R |
probably damaging |
Het |
| Zfp516 |
G |
T |
18: 82,973,964 (GRCm39) |
R54L |
probably damaging |
Het |
| Zfp868 |
T |
C |
8: 70,064,292 (GRCm39) |
K348E |
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 |
|
|
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 |
|
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 |
|
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'- GAAGTTGGTTTGTCACGAGAC -3'
(R):5'- CCAGAGTGGGACATGTTGAG -3'
Sequencing Primer
(F):5'- GAAACTCAGCAGCACTATGT -3'
(R):5'- GACTGTATACAACGCATAAGTGTG -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation