Incidental Mutation 'R7905:Cnbd1'
| ID |
610214 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cnbd1
|
| Ensembl Gene |
ENSMUSG00000073991 |
| Gene Name |
cyclic nucleotide binding domain containing 1 |
| Synonyms |
|
| MMRRC Submission |
045957-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7905 (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 18907100 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 158
(K158R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121576
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000137780]
|
| AlphaFold |
B1AWM0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000137780
AA Change: K158R
PolyPhen 2
Score 0.809 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000121576
Gene: ENSMUSG00000073991
AA Change: K158R
| 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 |
0.1311 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (44/44) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actl9 |
T |
C |
17: 33,652,801 (GRCm39) |
V287A |
possibly damaging |
Het |
| Adcy10 |
T |
A |
1: 165,340,737 (GRCm39) |
|
probably null |
Het |
| Aox1 |
G |
A |
1: 58,143,557 (GRCm39) |
S1225N |
possibly damaging |
Het |
| B430306N03Rik |
T |
A |
17: 48,623,988 (GRCm39) |
S96R |
probably benign |
Het |
| Bpifa5 |
T |
C |
2: 154,007,508 (GRCm39) |
I150T |
probably damaging |
Het |
| Ccdc28a |
A |
T |
10: 18,094,076 (GRCm39) |
V181D |
probably benign |
Het |
| Cd40 |
T |
C |
2: 164,904,245 (GRCm39) |
Y31H |
probably damaging |
Het |
| Cep290 |
A |
G |
10: 100,390,352 (GRCm39) |
T2032A |
probably benign |
Het |
| Degs1 |
A |
C |
1: 182,106,601 (GRCm39) |
N255K |
possibly damaging |
Het |
| Dll3 |
T |
G |
7: 28,000,960 (GRCm39) |
I32L |
possibly damaging |
Het |
| Dsg4 |
A |
T |
18: 20,587,726 (GRCm39) |
I278F |
probably damaging |
Het |
| Ets2 |
T |
A |
16: 95,507,304 (GRCm39) |
I6N |
probably damaging |
Het |
| Gbp4 |
A |
G |
5: 105,268,953 (GRCm39) |
F400S |
probably damaging |
Het |
| Golgb1 |
C |
T |
16: 36,734,047 (GRCm39) |
A1139V |
probably benign |
Het |
| Hfm1 |
A |
T |
5: 107,046,419 (GRCm39) |
L489H |
probably damaging |
Het |
| Kcna5 |
T |
C |
6: 126,511,831 (GRCm39) |
D99G |
probably benign |
Het |
| Ldhc |
A |
G |
7: 46,524,955 (GRCm39) |
|
probably null |
Het |
| Mief1 |
C |
G |
15: 80,133,599 (GRCm39) |
P219A |
probably damaging |
Het |
| Myh11 |
A |
T |
16: 14,025,545 (GRCm39) |
Y1408* |
probably null |
Het |
| Myo1b |
A |
G |
1: 51,803,043 (GRCm39) |
|
probably null |
Het |
| Nedd4 |
A |
T |
9: 72,584,661 (GRCm39) |
K121* |
probably null |
Het |
| Nek9 |
A |
C |
12: 85,352,370 (GRCm39) |
M831R |
probably damaging |
Het |
| Nf1 |
G |
A |
11: 79,437,938 (GRCm39) |
A83T |
possibly damaging |
Het |
| Or6c203 |
A |
T |
10: 129,010,056 (GRCm39) |
I278N |
probably damaging |
Het |
| Osbpl10 |
T |
C |
9: 114,891,078 (GRCm39) |
|
probably null |
Het |
| Pcdhb6 |
T |
C |
18: 37,467,607 (GRCm39) |
L176P |
probably benign |
Het |
| Plxnb1 |
G |
A |
9: 108,938,300 (GRCm39) |
V1285M |
probably damaging |
Het |
| Psg26 |
T |
A |
7: 18,209,242 (GRCm39) |
M389L |
probably benign |
Het |
| Slc49a4 |
G |
A |
16: 35,589,320 (GRCm39) |
P98S |
probably benign |
Het |
| Slc4a10 |
A |
G |
2: 62,098,495 (GRCm39) |
E543G |
probably damaging |
Het |
| Spata31h1 |
A |
G |
10: 82,131,936 (GRCm39) |
I358T |
probably benign |
Het |
| Spink7 |
G |
T |
18: 62,725,487 (GRCm39) |
C85* |
probably null |
Het |
| Stard9 |
T |
C |
2: 120,526,562 (GRCm39) |
W940R |
not run |
Het |
| Susd2 |
A |
T |
10: 75,475,491 (GRCm39) |
L471* |
probably null |
Het |
| Taf2 |
A |
T |
15: 54,910,828 (GRCm39) |
D615E |
possibly damaging |
Het |
| Taf4 |
G |
A |
2: 179,573,822 (GRCm39) |
T682M |
probably damaging |
Het |
| Tfdp2 |
T |
C |
9: 96,192,659 (GRCm39) |
S14P |
|
Het |
| Tha1 |
A |
C |
11: 117,761,893 (GRCm39) |
V116G |
possibly damaging |
Het |
| Trim46 |
T |
C |
3: 89,151,633 (GRCm39) |
H50R |
probably damaging |
Het |
| Trit1 |
A |
G |
4: 122,910,508 (GRCm39) |
K36E |
probably damaging |
Het |
| Ttc13 |
A |
T |
8: 125,415,335 (GRCm39) |
M268K |
probably benign |
Het |
| Ufc1 |
T |
A |
1: 171,117,508 (GRCm39) |
K68N |
probably damaging |
Het |
| Zbbx |
T |
C |
3: 74,992,820 (GRCm39) |
T225A |
probably benign |
Het |
| Zfp768 |
T |
C |
7: 126,943,831 (GRCm39) |
E102G |
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 |
|
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'- GCTCAAATATTTTAGCACGCCAAG -3'
(R):5'- GAAGTTTAAGGCATCATGGTGTATC -3'
Sequencing Primer
(F):5'- TAGCACGCCAAGTACATTTATAAGC -3'
(R):5'- TGGTGTATCTTATTCTTGGAAACAG -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation