Incidental Mutation 'R3974:Cnbd1'
| ID |
312515 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R3974 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
18860454-19122526 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 18887693 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 274
(R274C)
|
| 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 benign
Transcript: ENSMUST00000137780
AA Change: R274C
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000121576
Gene: ENSMUSG00000073991
AA Change: R274C
| 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: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2510039O18Rik |
T |
C |
4: 148,029,488 (GRCm39) |
I486T |
probably damaging |
Het |
| Abca8a |
A |
T |
11: 109,974,328 (GRCm39) |
M202K |
probably damaging |
Het |
| Abhd4 |
T |
A |
14: 54,500,417 (GRCm39) |
I117N |
probably damaging |
Het |
| Adam23 |
T |
A |
1: 63,586,888 (GRCm39) |
Y416* |
probably null |
Het |
| Cenpe |
A |
G |
3: 134,940,986 (GRCm39) |
|
probably null |
Het |
| Cenph |
A |
G |
13: 100,900,075 (GRCm39) |
V151A |
probably damaging |
Het |
| Cfap54 |
A |
G |
10: 92,675,333 (GRCm39) |
S2863P |
possibly damaging |
Het |
| Clca3a1 |
A |
T |
3: 144,738,400 (GRCm39) |
V36D |
probably damaging |
Het |
| Crot |
T |
C |
5: 9,027,541 (GRCm39) |
T264A |
probably benign |
Het |
| Dll4 |
A |
G |
2: 119,164,573 (GRCm39) |
D664G |
probably damaging |
Het |
| Ehbp1 |
C |
T |
11: 22,087,867 (GRCm39) |
A406T |
probably benign |
Het |
| Far2 |
T |
A |
6: 148,052,252 (GRCm39) |
I177N |
probably damaging |
Het |
| Flt4 |
T |
G |
11: 49,527,567 (GRCm39) |
V910G |
probably damaging |
Het |
| Fmod |
A |
G |
1: 133,968,496 (GRCm39) |
R179G |
probably benign |
Het |
| Gdf2 |
T |
A |
14: 33,666,791 (GRCm39) |
V171D |
probably damaging |
Het |
| Gpx6 |
C |
A |
13: 21,501,828 (GRCm39) |
S150Y |
probably damaging |
Het |
| Grik2 |
A |
T |
10: 49,298,750 (GRCm39) |
Y37N |
probably damaging |
Het |
| Grn |
T |
C |
11: 102,327,165 (GRCm39) |
V559A |
probably damaging |
Het |
| Lrrc37 |
A |
T |
11: 103,509,927 (GRCm39) |
|
probably benign |
Het |
| Muc2 |
T |
A |
7: 141,300,541 (GRCm39) |
|
probably benign |
Het |
| Myo5b |
T |
C |
18: 74,767,552 (GRCm39) |
Y287H |
probably damaging |
Het |
| Nbeal2 |
T |
C |
9: 110,462,914 (GRCm39) |
T1350A |
probably damaging |
Het |
| Nfkbiz |
T |
C |
16: 55,638,799 (GRCm39) |
I220M |
probably benign |
Het |
| Nt5dc2 |
T |
C |
14: 30,860,832 (GRCm39) |
S439P |
probably damaging |
Het |
| Omg |
T |
A |
11: 79,393,224 (GRCm39) |
E211D |
probably benign |
Het |
| Or52ab7 |
T |
G |
7: 102,978,285 (GRCm39) |
D197E |
probably damaging |
Het |
| Or8k18 |
A |
T |
2: 86,085,935 (GRCm39) |
I34N |
possibly damaging |
Het |
| Pcdhb4 |
A |
G |
18: 37,441,901 (GRCm39) |
T404A |
possibly damaging |
Het |
| Plcl1 |
T |
A |
1: 55,737,374 (GRCm39) |
M905K |
probably benign |
Het |
| Plod2 |
G |
T |
9: 92,480,672 (GRCm39) |
G422* |
probably null |
Het |
| Ppp1r12a |
T |
C |
10: 108,089,341 (GRCm39) |
V660A |
probably benign |
Het |
| Prdm6 |
T |
C |
18: 53,673,278 (GRCm39) |
I186T |
possibly damaging |
Het |
| Ptprq |
T |
G |
10: 107,547,923 (GRCm39) |
K158N |
possibly damaging |
Het |
| Rimbp2 |
A |
G |
5: 128,874,862 (GRCm39) |
V243A |
probably damaging |
Het |
| Rp1l1 |
T |
A |
14: 64,267,758 (GRCm39) |
Y1115N |
probably damaging |
Het |
| Rtn4 |
C |
T |
11: 29,657,505 (GRCm39) |
T553I |
probably damaging |
Het |
| Scrn3 |
T |
C |
2: 73,166,121 (GRCm39) |
S385P |
possibly damaging |
Het |
| Serpina1f |
C |
A |
12: 103,659,830 (GRCm39) |
G151* |
probably null |
Het |
| Sis |
T |
C |
3: 72,850,968 (GRCm39) |
T577A |
probably damaging |
Het |
| Slco1a1 |
A |
T |
6: 141,854,819 (GRCm39) |
S611T |
probably benign |
Het |
| Smad4 |
G |
T |
18: 73,810,807 (GRCm39) |
T59K |
possibly damaging |
Het |
| Syne1 |
T |
C |
10: 4,993,630 (GRCm39) |
D8370G |
probably benign |
Het |
| Tigd4 |
G |
A |
3: 84,502,585 (GRCm39) |
A501T |
possibly damaging |
Het |
| Tjp1 |
A |
T |
7: 64,947,387 (GRCm39) |
C1724* |
probably null |
Het |
| Tmem107 |
G |
T |
11: 68,962,301 (GRCm39) |
|
probably null |
Het |
| Tsc22d1 |
T |
C |
14: 76,656,049 (GRCm39) |
S761P |
probably damaging |
Het |
| Tyw5 |
A |
T |
1: 57,430,687 (GRCm39) |
D165E |
probably damaging |
Het |
| U2af2 |
T |
A |
7: 5,072,438 (GRCm39) |
|
probably null |
Het |
| Ube3b |
T |
A |
5: 114,550,491 (GRCm39) |
D839E |
probably benign |
Het |
| Ush2a |
A |
G |
1: 188,113,698 (GRCm39) |
D639G |
probably benign |
Het |
| Veph1 |
A |
T |
3: 66,065,648 (GRCm39) |
M473K |
probably benign |
Het |
| Vmn2r72 |
A |
T |
7: 85,399,017 (GRCm39) |
N445K |
probably damaging |
Het |
| Vps37d |
T |
C |
5: 135,105,393 (GRCm39) |
M77V |
probably null |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GAGACCCTGGTTTTCCTGACAAG -3'
(R):5'- GGTAGTCCTTCTTCCATGGC -3'
Sequencing Primer
(F):5'- CTGGTTTTCCTGACAAGTACTGAAAG -3'
(R):5'- TCCATGGCAGTGGAACTAGAACTC -3'
|
| Posted On |
2015-04-30 |
Incidental Mutation