Incidental Mutation 'IGL02106:Cnbd1'
ID |
280000 |
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 # |
IGL02106
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
18860454-19122526 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 18894993 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Threonine
at position 250
(P250T)
|
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: P250T
PolyPhen 2
Score 0.548 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000121576 Gene: ENSMUSG00000073991 AA Change: P250T
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Bcl9l |
A |
G |
9: 44,420,496 (GRCm39) |
N1264D |
probably benign |
Het |
Bmyc |
A |
G |
2: 25,597,082 (GRCm39) |
K49E |
probably damaging |
Het |
Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
Ceacam2 |
A |
G |
7: 25,230,166 (GRCm39) |
S147P |
probably benign |
Het |
Cep152 |
G |
T |
2: 125,444,856 (GRCm39) |
|
probably null |
Het |
Col6a4 |
A |
G |
9: 105,940,304 (GRCm39) |
C1209R |
possibly damaging |
Het |
Coro1c |
T |
C |
5: 113,990,334 (GRCm39) |
T116A |
probably benign |
Het |
Ddx46 |
A |
G |
13: 55,825,416 (GRCm39) |
|
probably benign |
Het |
Dnaaf5 |
T |
C |
5: 139,137,268 (GRCm39) |
I207T |
probably damaging |
Het |
Erap1 |
A |
G |
13: 74,794,758 (GRCm39) |
D139G |
probably benign |
Het |
Fbxw22 |
A |
T |
9: 109,231,087 (GRCm39) |
I121N |
possibly damaging |
Het |
Fcmr |
T |
C |
1: 130,802,872 (GRCm39) |
S162P |
probably benign |
Het |
Gadl1 |
A |
G |
9: 115,766,225 (GRCm39) |
|
probably benign |
Het |
Gli2 |
T |
A |
1: 118,764,465 (GRCm39) |
S1229C |
probably benign |
Het |
Gm10717 |
A |
T |
9: 3,026,287 (GRCm39) |
Y195F |
probably damaging |
Het |
Gne |
T |
C |
4: 44,037,306 (GRCm39) |
N692D |
probably damaging |
Het |
Knl1 |
A |
G |
2: 118,902,489 (GRCm39) |
T1397A |
possibly damaging |
Het |
Lama3 |
C |
A |
18: 12,601,371 (GRCm39) |
A1016E |
probably damaging |
Het |
Lhfpl2 |
A |
G |
13: 94,328,419 (GRCm39) |
D160G |
probably benign |
Het |
Lmtk2 |
T |
A |
5: 144,112,769 (GRCm39) |
V1163E |
probably benign |
Het |
Lrrtm2 |
G |
T |
18: 35,345,868 (GRCm39) |
S478* |
probably null |
Het |
Nfatc2ip |
T |
C |
7: 125,989,736 (GRCm39) |
|
probably null |
Het |
Nlrp12 |
A |
G |
7: 3,282,574 (GRCm39) |
I775T |
probably benign |
Het |
Npr1 |
A |
G |
3: 90,372,165 (GRCm39) |
F216L |
probably benign |
Het |
Or4m1 |
A |
T |
14: 50,557,617 (GRCm39) |
L225H |
probably damaging |
Het |
Or5ac24 |
T |
A |
16: 59,165,387 (GRCm39) |
N226Y |
probably benign |
Het |
Or5b99 |
G |
T |
19: 12,976,929 (GRCm39) |
S193I |
possibly damaging |
Het |
Pkd1l1 |
C |
A |
11: 8,783,800 (GRCm39) |
G2052C |
probably damaging |
Het |
Ppp1r16b |
A |
G |
2: 158,588,451 (GRCm39) |
N112S |
possibly damaging |
Het |
Prr11 |
A |
G |
11: 86,994,141 (GRCm39) |
|
probably benign |
Het |
Scap |
A |
G |
9: 110,210,724 (GRCm39) |
|
probably benign |
Het |
Sirt1 |
C |
T |
10: 63,171,608 (GRCm39) |
R191Q |
probably damaging |
Het |
Slc38a6 |
A |
C |
12: 73,397,320 (GRCm39) |
S321R |
possibly damaging |
Het |
Sp140 |
T |
C |
1: 85,570,940 (GRCm39) |
V460A |
probably benign |
Het |
Spdye4c |
A |
T |
2: 128,434,586 (GRCm39) |
K54N |
possibly damaging |
Het |
Spta1 |
T |
A |
1: 174,030,860 (GRCm39) |
N947K |
probably benign |
Het |
Srgap1 |
A |
G |
10: 121,621,598 (GRCm39) |
V965A |
possibly damaging |
Het |
Tmem209 |
A |
C |
6: 30,508,659 (GRCm39) |
|
probably null |
Het |
Trim37 |
A |
T |
11: 87,092,230 (GRCm39) |
K123* |
probably null |
Het |
Trio |
T |
C |
15: 27,744,244 (GRCm39) |
T2563A |
possibly damaging |
Het |
Utrn |
A |
T |
10: 12,289,717 (GRCm39) |
S734T |
possibly damaging |
Het |
Vars2 |
A |
G |
17: 35,975,513 (GRCm39) |
|
probably benign |
Het |
Xrn1 |
G |
A |
9: 95,859,858 (GRCm39) |
E417K |
probably benign |
Het |
Yeats2 |
T |
A |
16: 20,011,970 (GRCm39) |
V515E |
possibly 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 |
|
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 |
2015-04-16 |