Incidental Mutation 'R5749:Cyp2b19'
| ID |
445915 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyp2b19
|
| Ensembl Gene |
ENSMUSG00000066704 |
| Gene Name |
cytochrome P450, family 2, subfamily b, polypeptide 19 |
| Synonyms |
|
| MMRRC Submission |
043200-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.058)
|
| Stock # |
R5749 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
26757142-26772630 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 26763419 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 242
(I242T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000077021
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077855]
|
| AlphaFold |
O55071 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000077855
AA Change: I242T
PolyPhen 2
Score 0.836 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000077021
Gene: ENSMUSG00000066704
AA Change: I242T
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
Pfam:p450
|
32 |
489 |
8.7e-151 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132315
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138018
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsl6 |
G |
A |
11: 54,324,055 (GRCm38) |
|
probably null |
Het |
| Ankrd12 |
T |
C |
17: 65,986,096 (GRCm38) |
S781G |
probably benign |
Het |
| Bicc1 |
A |
G |
10: 70,946,969 (GRCm38) |
S523P |
probably benign |
Het |
| Ccdc163 |
T |
A |
4: 116,714,112 (GRCm38) |
C44* |
probably null |
Het |
| Ccdc83 |
T |
C |
7: 90,223,948 (GRCm38) |
T400A |
probably damaging |
Het |
| Cobl |
A |
G |
11: 12,266,965 (GRCm38) |
S426P |
possibly damaging |
Het |
| Cyhr1 |
A |
C |
15: 76,658,644 (GRCm38) |
|
probably null |
Het |
| Efnb2 |
A |
C |
8: 8,639,347 (GRCm38) |
C92G |
probably damaging |
Het |
| Fam90a1a |
T |
A |
8: 21,963,041 (GRCm38) |
S137R |
possibly damaging |
Het |
| Fbxo17 |
G |
A |
7: 28,737,472 (GRCm38) |
R284H |
probably damaging |
Het |
| Fem1b |
A |
G |
9: 62,797,006 (GRCm38) |
L324P |
probably damaging |
Het |
| Fsd1 |
T |
A |
17: 55,995,849 (GRCm38) |
|
probably null |
Het |
| Gtpbp4 |
A |
G |
13: 8,995,947 (GRCm38) |
|
probably null |
Het |
| Ifi209 |
A |
C |
1: 173,637,327 (GRCm38) |
I8L |
probably damaging |
Het |
| Itga8 |
T |
C |
2: 12,262,078 (GRCm38) |
E182G |
probably damaging |
Het |
| Itsn1 |
T |
A |
16: 91,906,855 (GRCm38) |
L87H |
probably damaging |
Het |
| Klk1b16 |
T |
C |
7: 44,140,786 (GRCm38) |
I160T |
probably benign |
Het |
| Lbp |
T |
A |
2: 158,319,753 (GRCm38) |
V52D |
probably damaging |
Het |
| Med23 |
T |
C |
10: 24,888,449 (GRCm38) |
V318A |
possibly damaging |
Het |
| Myo16 |
C |
T |
8: 10,413,245 (GRCm38) |
S604L |
probably benign |
Het |
| Olfr1113 |
C |
T |
2: 87,212,943 (GRCm38) |
T17I |
probably benign |
Het |
| Olfr1448 |
A |
G |
19: 12,920,225 (GRCm38) |
V28A |
probably benign |
Het |
| Olfr1510 |
T |
A |
14: 52,410,504 (GRCm38) |
M123L |
probably damaging |
Het |
| Olfr768 |
A |
T |
10: 129,093,097 (GRCm38) |
N292K |
probably damaging |
Het |
| Pcdh8 |
T |
C |
14: 79,770,085 (GRCm38) |
D346G |
probably damaging |
Het |
| Ppara |
A |
T |
15: 85,789,028 (GRCm38) |
D140V |
probably benign |
Het |
| Prlr |
T |
A |
15: 10,328,718 (GRCm38) |
D426E |
probably benign |
Het |
| Prss36 |
T |
A |
7: 127,933,642 (GRCm38) |
I192F |
probably damaging |
Het |
| Psg25 |
T |
C |
7: 18,524,851 (GRCm38) |
E300G |
probably damaging |
Het |
| Pxylp1 |
A |
G |
9: 96,856,371 (GRCm38) |
F26L |
possibly damaging |
Het |
| Rapgef4 |
A |
T |
2: 72,242,757 (GRCm38) |
T796S |
probably damaging |
Het |
| Stard9 |
A |
G |
2: 120,703,786 (GRCm38) |
H3508R |
probably damaging |
Het |
| Tep1 |
T |
A |
14: 50,844,072 (GRCm38) |
D1282V |
possibly damaging |
Het |
| Tgfbr3l |
A |
G |
8: 4,249,310 (GRCm38) |
E59G |
probably damaging |
Het |
| Tnik |
T |
C |
3: 28,594,092 (GRCm38) |
M431T |
probably benign |
Het |
| Tns3 |
A |
T |
11: 8,451,177 (GRCm38) |
H1040Q |
probably benign |
Het |
| Usp10 |
G |
A |
8: 119,941,133 (GRCm38) |
E58K |
probably damaging |
Het |
| Vmn2r23 |
A |
G |
6: 123,733,273 (GRCm38) |
T512A |
probably benign |
Het |
| Vmn2r52 |
C |
T |
7: 10,159,032 (GRCm38) |
D727N |
probably damaging |
Het |
| Vmn2r66 |
T |
A |
7: 85,006,771 (GRCm38) |
K346* |
probably null |
Het |
| Vmn2r93 |
T |
A |
17: 18,298,284 (GRCm38) |
F2I |
probably benign |
Het |
| Zfp697 |
T |
C |
3: 98,425,464 (GRCm38) |
S69P |
probably benign |
Het |
|
| Other mutations in Cyp2b19 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00981:Cyp2b19
|
APN |
7 |
26,763,461 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
IGL01338:Cyp2b19
|
APN |
7 |
26,759,417 (GRCm38) |
missense |
probably benign |
0.09 |
|
IGL01374:Cyp2b19
|
APN |
7 |
26,759,079 (GRCm38) |
missense |
probably benign |
0.06 |
|
IGL01613:Cyp2b19
|
APN |
7 |
26,763,461 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
IGL01695:Cyp2b19
|
APN |
7 |
26,759,064 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02322:Cyp2b19
|
APN |
7 |
26,762,378 (GRCm38) |
missense |
possibly damaging |
0.79 |
|
IGL03077:Cyp2b19
|
APN |
7 |
26,762,384 (GRCm38) |
missense |
probably benign |
|
|
R0047:Cyp2b19
|
UTSW |
7 |
26,766,826 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0047:Cyp2b19
|
UTSW |
7 |
26,766,826 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0452:Cyp2b19
|
UTSW |
7 |
26,766,762 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0865:Cyp2b19
|
UTSW |
7 |
26,762,229 (GRCm38) |
splice site |
probably benign |
|
|
R1514:Cyp2b19
|
UTSW |
7 |
26,767,160 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1681:Cyp2b19
|
UTSW |
7 |
26,763,340 (GRCm38) |
splice site |
probably null |
|
|
R2362:Cyp2b19
|
UTSW |
7 |
26,764,377 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4015:Cyp2b19
|
UTSW |
7 |
26,762,343 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4259:Cyp2b19
|
UTSW |
7 |
26,763,382 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4592:Cyp2b19
|
UTSW |
7 |
26,771,394 (GRCm38) |
missense |
probably benign |
0.04 |
|
R4705:Cyp2b19
|
UTSW |
7 |
26,757,292 (GRCm38) |
missense |
probably benign |
0.03 |
|
R4789:Cyp2b19
|
UTSW |
7 |
26,764,376 (GRCm38) |
missense |
probably benign |
0.16 |
|
R5481:Cyp2b19
|
UTSW |
7 |
26,766,821 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6041:Cyp2b19
|
UTSW |
7 |
26,759,427 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6170:Cyp2b19
|
UTSW |
7 |
26,759,094 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
R6259:Cyp2b19
|
UTSW |
7 |
26,771,392 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R6370:Cyp2b19
|
UTSW |
7 |
26,763,358 (GRCm38) |
missense |
probably benign |
0.07 |
|
R6519:Cyp2b19
|
UTSW |
7 |
26,759,111 (GRCm38) |
missense |
probably benign |
|
|
R6656:Cyp2b19
|
UTSW |
7 |
26,766,855 (GRCm38) |
missense |
probably benign |
|
|
R7283:Cyp2b19
|
UTSW |
7 |
26,766,914 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7583:Cyp2b19
|
UTSW |
7 |
26,759,064 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7686:Cyp2b19
|
UTSW |
7 |
26,762,343 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7732:Cyp2b19
|
UTSW |
7 |
26,771,344 (GRCm38) |
missense |
possibly damaging |
0.67 |
|
R7831:Cyp2b19
|
UTSW |
7 |
26,767,140 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
R8035:Cyp2b19
|
UTSW |
7 |
26,771,250 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8853:Cyp2b19
|
UTSW |
7 |
26,757,220 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R9574:Cyp2b19
|
UTSW |
7 |
26,766,928 (GRCm38) |
missense |
probably null |
1.00 |
|
R9574:Cyp2b19
|
UTSW |
7 |
26,766,927 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9650:Cyp2b19
|
UTSW |
7 |
26,766,783 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R9681:Cyp2b19
|
UTSW |
7 |
26,766,903 (GRCm38) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAAAAGCATGCATGTGTATGGTA -3'
(R):5'- CTCTGTCCCCTCCCATCTTT -3'
Sequencing Primer
(F):5'- TGTATGGTATACACACACACACAC -3'
(R):5'- TTTCTCTGACAACATCCCCATC -3'
|
| Posted On |
2016-11-21 |
Incidental Mutation