Incidental Mutation 'IGL01646:Cnbd1'
ID |
102683 |
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 # |
IGL01646
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
18860454-19122526 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to T
at 18895141 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Stop codon
at position 200
(Y200*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000121576
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000137780]
|
AlphaFold |
B1AWM0 |
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133363
|
Predicted Effect |
probably null
Transcript: ENSMUST00000137780
AA Change: Y200*
|
SMART Domains |
Protein: ENSMUSP00000121576 Gene: ENSMUSG00000073991 AA Change: Y200*
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ambp |
C |
T |
4: 63,066,977 (GRCm39) |
V188I |
probably benign |
Het |
Bbs9 |
G |
T |
9: 22,582,221 (GRCm39) |
E638* |
probably null |
Het |
Bmp6 |
A |
G |
13: 38,682,904 (GRCm39) |
M465V |
probably damaging |
Het |
Ccdc192 |
T |
A |
18: 57,800,417 (GRCm39) |
C171* |
probably null |
Het |
Cemip |
T |
C |
7: 83,632,440 (GRCm39) |
E374G |
possibly damaging |
Het |
Cox6b1 |
G |
T |
7: 30,323,929 (GRCm39) |
Y34* |
probably null |
Het |
Cyp2d26 |
A |
C |
15: 82,675,619 (GRCm39) |
I303M |
probably benign |
Het |
Diaph1 |
T |
A |
18: 38,026,469 (GRCm39) |
|
probably null |
Het |
Dmp1 |
T |
C |
5: 104,359,731 (GRCm39) |
S136P |
probably damaging |
Het |
Dpy19l1 |
C |
T |
9: 24,396,365 (GRCm39) |
R117Q |
probably damaging |
Het |
Eea1 |
A |
G |
10: 95,832,877 (GRCm39) |
T241A |
probably damaging |
Het |
Erap1 |
C |
A |
13: 74,814,291 (GRCm39) |
T25K |
probably damaging |
Het |
Fras1 |
A |
G |
5: 96,906,007 (GRCm39) |
E3137G |
probably benign |
Het |
Fryl |
C |
T |
5: 73,179,844 (GRCm39) |
|
probably null |
Het |
Gldc |
T |
G |
19: 30,078,165 (GRCm39) |
D944A |
possibly damaging |
Het |
Grm5 |
A |
G |
7: 87,689,267 (GRCm39) |
Y546C |
probably damaging |
Het |
Igkv1-122 |
G |
A |
6: 67,993,728 (GRCm39) |
M1I |
probably null |
Het |
Jag2 |
G |
A |
12: 112,879,969 (GRCm39) |
P380S |
possibly damaging |
Het |
Kcnc2 |
T |
C |
10: 112,108,311 (GRCm39) |
|
probably null |
Het |
Kmt2a |
T |
C |
9: 44,736,781 (GRCm39) |
|
probably benign |
Het |
Lrrc55 |
A |
G |
2: 85,022,333 (GRCm39) |
V286A |
probably damaging |
Het |
Mllt10 |
C |
A |
2: 18,127,128 (GRCm39) |
H82N |
probably damaging |
Het |
Myh11 |
C |
A |
16: 14,039,639 (GRCm39) |
R837L |
probably damaging |
Het |
Nsg1 |
C |
A |
5: 38,313,035 (GRCm39) |
D55Y |
probably damaging |
Het |
Nup107 |
C |
A |
10: 117,617,247 (GRCm39) |
R221M |
probably damaging |
Het |
Nup153 |
G |
T |
13: 46,837,583 (GRCm39) |
A1213D |
possibly damaging |
Het |
Ovgp1 |
G |
A |
3: 105,885,665 (GRCm39) |
G174S |
probably damaging |
Het |
Papss2 |
C |
T |
19: 32,629,482 (GRCm39) |
A357V |
probably benign |
Het |
Pclo |
A |
G |
5: 14,763,881 (GRCm39) |
K4118R |
unknown |
Het |
Pde2a |
T |
C |
7: 101,156,918 (GRCm39) |
I628T |
possibly damaging |
Het |
Pla2r1 |
A |
G |
2: 60,325,708 (GRCm39) |
W521R |
probably damaging |
Het |
Pld1 |
A |
T |
3: 28,153,813 (GRCm39) |
Q744L |
probably damaging |
Het |
Pnpo |
T |
A |
11: 96,829,775 (GRCm39) |
E251V |
possibly damaging |
Het |
Rdh10 |
C |
T |
1: 16,178,246 (GRCm39) |
H173Y |
possibly damaging |
Het |
Sgpp2 |
A |
T |
1: 78,393,533 (GRCm39) |
I179F |
probably damaging |
Het |
Slc11a1 |
C |
T |
1: 74,423,899 (GRCm39) |
P409L |
probably damaging |
Het |
Slc35b4 |
T |
A |
6: 34,135,364 (GRCm39) |
N316I |
probably benign |
Het |
Snrnp200 |
A |
G |
2: 127,064,148 (GRCm39) |
I712V |
probably benign |
Het |
Spr |
T |
C |
6: 85,111,222 (GRCm39) |
D216G |
possibly damaging |
Het |
Sri |
G |
A |
5: 8,113,755 (GRCm39) |
|
probably null |
Het |
Tas2r124 |
T |
C |
6: 132,732,332 (GRCm39) |
S214P |
probably damaging |
Het |
Tg |
T |
A |
15: 66,549,936 (GRCm39) |
S233T |
probably damaging |
Het |
Tgfbr3 |
A |
T |
5: 107,269,279 (GRCm39) |
|
probably benign |
Het |
Vmn2r45 |
A |
G |
7: 8,486,337 (GRCm39) |
F317S |
probably benign |
Het |
Vmn2r99 |
C |
A |
17: 19,613,920 (GRCm39) |
|
probably benign |
Het |
Zfp957 |
T |
C |
14: 79,451,331 (GRCm39) |
E156G |
probably benign |
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 |
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 |
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 |
2014-01-21 |