Incidental Mutation 'R9419:Cnbd1'
| ID |
712210 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cnbd1
|
| Ensembl Gene |
ENSMUSG00000073991 |
| Gene Name |
cyclic nucleotide binding domain containing 1 |
| Synonyms |
|
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9419 (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 19098156 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Arginine
at position 88
(Q88R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121576
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000137780]
|
| AlphaFold |
B1AWM0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000137780
AA Change: Q88R
PolyPhen 2
Score 0.110 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000121576
Gene: ENSMUSG00000073991
AA Change: Q88R
| 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: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (47/47) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700064H15Rik |
T |
C |
3: 19,682,685 (GRCm39) |
T30A |
unknown |
Het |
| Abca12 |
A |
G |
1: 71,342,649 (GRCm39) |
Y944H |
possibly damaging |
Het |
| Adgrv1 |
T |
C |
13: 81,656,887 (GRCm39) |
N2869S |
probably benign |
Het |
| Ank1 |
C |
A |
8: 23,574,825 (GRCm39) |
Q140K |
probably damaging |
Het |
| Aspm |
T |
A |
1: 139,384,923 (GRCm39) |
M189K |
probably benign |
Het |
| Atp2b1 |
G |
T |
10: 98,837,178 (GRCm39) |
R539L |
possibly damaging |
Het |
| Camsap1 |
A |
G |
2: 25,845,304 (GRCm39) |
S152P |
|
Het |
| Catsperd |
A |
T |
17: 56,958,821 (GRCm39) |
I276L |
probably benign |
Het |
| Cbarp |
A |
G |
10: 79,967,861 (GRCm39) |
V460A |
probably damaging |
Het |
| Ccdc168 |
T |
C |
1: 44,096,935 (GRCm39) |
I1388V |
probably benign |
Het |
| Cd40 |
A |
T |
2: 164,904,162 (GRCm39) |
|
probably benign |
Het |
| Cdk11b |
A |
T |
4: 155,724,302 (GRCm39) |
T307S |
unknown |
Het |
| Chfr |
C |
T |
5: 110,317,056 (GRCm39) |
T643I |
probably damaging |
Het |
| Col15a1 |
G |
C |
4: 47,288,200 (GRCm39) |
|
probably benign |
Het |
| Ghdc |
G |
T |
11: 100,661,081 (GRCm39) |
A28D |
probably damaging |
Het |
| Gm5114 |
T |
C |
7: 39,057,540 (GRCm39) |
H693R |
possibly damaging |
Het |
| H2-M1 |
G |
T |
17: 36,981,231 (GRCm39) |
A268E |
probably damaging |
Het |
| Hsf5 |
A |
G |
11: 87,528,935 (GRCm39) |
N557D |
probably benign |
Het |
| Ighg2c |
A |
G |
12: 113,251,015 (GRCm39) |
|
probably benign |
Het |
| Il17ra |
C |
A |
6: 120,458,255 (GRCm39) |
Q469K |
possibly damaging |
Het |
| Ipo8 |
T |
A |
6: 148,686,064 (GRCm39) |
N809Y |
probably benign |
Het |
| Klra10 |
T |
A |
6: 130,256,435 (GRCm39) |
Q73L |
probably damaging |
Het |
| Lamb2 |
T |
C |
9: 108,356,959 (GRCm39) |
V3A |
unknown |
Het |
| Map3k9 |
T |
C |
12: 81,827,341 (GRCm39) |
Y103C |
probably damaging |
Het |
| Map4 |
T |
C |
9: 109,882,029 (GRCm39) |
S298P |
possibly damaging |
Het |
| Mtus2 |
T |
A |
5: 148,243,451 (GRCm39) |
N1254K |
probably damaging |
Het |
| Nap1l5 |
T |
A |
6: 58,883,952 (GRCm39) |
M1L |
probably benign |
Het |
| Nfxl1 |
G |
A |
5: 72,716,641 (GRCm39) |
|
probably benign |
Het |
| Nmd3 |
T |
C |
3: 69,643,349 (GRCm39) |
I227T |
probably benign |
Het |
| Or8c10 |
T |
G |
9: 38,279,162 (GRCm39) |
C97G |
probably damaging |
Het |
| Pramel39-ps |
G |
T |
5: 94,451,001 (GRCm39) |
P375H |
probably damaging |
Het |
| Ptchd3 |
G |
A |
11: 121,732,356 (GRCm39) |
M415I |
possibly damaging |
Het |
| Rab28 |
A |
T |
5: 41,793,182 (GRCm39) |
S154R |
possibly damaging |
Het |
| Rin1 |
A |
G |
19: 5,103,735 (GRCm39) |
E567G |
probably damaging |
Het |
| Rrbp1 |
A |
C |
2: 143,811,436 (GRCm39) |
V806G |
probably benign |
Het |
| Sec63 |
T |
A |
10: 42,679,901 (GRCm39) |
L326Q |
probably damaging |
Het |
| Serinc2 |
T |
C |
4: 130,149,315 (GRCm39) |
T296A |
probably damaging |
Het |
| Skint10 |
G |
A |
4: 112,572,981 (GRCm39) |
L272F |
probably damaging |
Het |
| Slc4a11 |
C |
T |
2: 130,533,664 (GRCm39) |
A100T |
probably damaging |
Het |
| Stag1 |
A |
G |
9: 100,811,967 (GRCm39) |
Q815R |
probably benign |
Het |
| Stat3 |
A |
G |
11: 100,780,357 (GRCm39) |
M735T |
possibly damaging |
Het |
| Stat3 |
A |
G |
11: 100,784,738 (GRCm39) |
I576T |
probably benign |
Het |
| Styxl2 |
T |
C |
1: 165,927,755 (GRCm39) |
Q619R |
probably damaging |
Het |
| Syne1 |
T |
C |
10: 5,155,071 (GRCm39) |
K5623E |
probably benign |
Het |
| Tas1r2 |
T |
C |
4: 139,387,036 (GRCm39) |
V165A |
possibly damaging |
Het |
| Tcaf3 |
A |
T |
6: 42,573,716 (GRCm39) |
D165E |
probably benign |
Het |
| Tex2 |
G |
A |
11: 106,457,835 (GRCm39) |
Q532* |
probably null |
Het |
| Utrn |
T |
C |
10: 12,564,125 (GRCm39) |
E1245G |
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 |
|
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 |
|
R9648:Cnbd1
|
UTSW |
4 |
19,098,142 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGAGAAGTTGGTTTGTCACGAG -3'
(R):5'- TTCCAGAGTGGGACATGTTGAG -3'
Sequencing Primer
(F):5'- CACGAGACATAATCTCCTGG -3'
(R):5'- GACTGTATACAACGCATAAGTGTG -3'
|
| Posted On |
2022-05-16 |
Incidental Mutation