Incidental Mutation 'R6656:Cyp2b19'
| ID |
526620 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyp2b19
|
| Ensembl Gene |
ENSMUSG00000066704 |
| Gene Name |
cytochrome P450, family 2, subfamily b, polypeptide 19 |
| Synonyms |
|
| MMRRC Submission |
044777-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.061)
|
| Stock # |
R6656 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
26456567-26472055 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 26466280 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 361
(T361I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000077021
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077855]
|
| AlphaFold |
O55071 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000077855
AA Change: T361I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000077021
Gene: ENSMUSG00000066704
AA Change: T361I
| 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
|
| Meta Mutation Damage Score |
0.0846 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.8%
|
| Validation Efficiency |
97% (35/36) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahctf1 |
T |
C |
1: 179,581,078 (GRCm39) |
N1708S |
probably benign |
Het |
| Ahnak2 |
C |
T |
12: 112,748,991 (GRCm39) |
M285I |
probably benign |
Het |
| Angptl1 |
A |
T |
1: 156,684,806 (GRCm39) |
D325V |
probably damaging |
Het |
| Anln |
A |
T |
9: 22,262,298 (GRCm39) |
V931E |
probably damaging |
Het |
| Ascc3 |
C |
T |
10: 50,526,021 (GRCm39) |
R578* |
probably null |
Het |
| B3galnt2 |
C |
T |
13: 14,150,161 (GRCm39) |
A168V |
probably benign |
Het |
| Bhlhe40 |
TG |
TGG |
6: 108,641,818 (GRCm39) |
254 |
probably null |
Het |
| Cd22 |
T |
C |
7: 30,577,182 (GRCm39) |
I42V |
probably benign |
Het |
| D930048N14Rik |
C |
A |
11: 51,544,576 (GRCm39) |
|
probably benign |
Het |
| Ehf |
T |
C |
2: 103,113,928 (GRCm39) |
N23S |
probably damaging |
Het |
| Eif2ak3 |
T |
A |
6: 70,860,699 (GRCm39) |
I425N |
probably damaging |
Het |
| Fbxo4 |
C |
T |
15: 4,005,305 (GRCm39) |
V192M |
probably damaging |
Het |
| Gm21190 |
T |
C |
5: 15,730,849 (GRCm39) |
Q169R |
possibly damaging |
Het |
| Gngt1 |
A |
G |
6: 3,994,246 (GRCm39) |
D8G |
possibly damaging |
Het |
| Ift140 |
T |
C |
17: 25,251,147 (GRCm39) |
L31P |
probably damaging |
Het |
| Keg1 |
C |
T |
19: 12,686,994 (GRCm39) |
Q8* |
probably null |
Het |
| Lama3 |
T |
A |
18: 12,682,283 (GRCm39) |
M1083K |
possibly damaging |
Het |
| Lrp1b |
A |
T |
2: 40,527,876 (GRCm39) |
Y68* |
probably null |
Het |
| Lyz3 |
A |
G |
10: 117,071,534 (GRCm39) |
V115A |
probably benign |
Het |
| Mctp1 |
A |
T |
13: 77,178,055 (GRCm39) |
K947N |
probably damaging |
Het |
| Muc5ac |
A |
G |
7: 141,357,065 (GRCm39) |
Y1113C |
probably damaging |
Het |
| Myb |
C |
T |
10: 21,028,844 (GRCm39) |
V85M |
probably damaging |
Het |
| Npas2 |
T |
G |
1: 39,401,029 (GRCm39) |
S798A |
unknown |
Het |
| Or13a21 |
G |
T |
7: 139,999,517 (GRCm39) |
H56Q |
probably damaging |
Het |
| Orc2 |
A |
G |
1: 58,532,818 (GRCm39) |
|
probably null |
Het |
| Parpbp |
T |
C |
10: 87,946,175 (GRCm39) |
T415A |
probably benign |
Het |
| Pcdha3 |
T |
C |
18: 37,080,875 (GRCm39) |
V539A |
probably benign |
Het |
| Piwil4 |
T |
C |
9: 14,621,230 (GRCm39) |
E601G |
probably damaging |
Het |
| Pramel51 |
A |
T |
12: 88,142,763 (GRCm39) |
L285Q |
possibly damaging |
Het |
| Ptpn3 |
T |
A |
4: 57,205,905 (GRCm39) |
I696F |
probably damaging |
Het |
| Sec63 |
C |
T |
10: 42,692,379 (GRCm39) |
Q617* |
probably null |
Het |
| Sgip1 |
C |
A |
4: 102,762,765 (GRCm39) |
|
probably benign |
Het |
| Sirpd |
T |
C |
3: 15,385,558 (GRCm39) |
T115A |
probably damaging |
Het |
| Tktl2 |
T |
C |
8: 66,965,381 (GRCm39) |
V313A |
probably benign |
Het |
| Tmem63b |
C |
A |
17: 45,978,634 (GRCm39) |
R325L |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,539,700 (GRCm39) |
G34429R |
probably damaging |
Het |
|
| Other mutations in Cyp2b19 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00981:Cyp2b19
|
APN |
7 |
26,462,886 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL01338:Cyp2b19
|
APN |
7 |
26,458,842 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL01374:Cyp2b19
|
APN |
7 |
26,458,504 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL01613:Cyp2b19
|
APN |
7 |
26,462,886 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL01695:Cyp2b19
|
APN |
7 |
26,458,489 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02322:Cyp2b19
|
APN |
7 |
26,461,803 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
IGL03077:Cyp2b19
|
APN |
7 |
26,461,809 (GRCm39) |
missense |
probably benign |
|
|
R0047:Cyp2b19
|
UTSW |
7 |
26,466,251 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0047:Cyp2b19
|
UTSW |
7 |
26,466,251 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0452:Cyp2b19
|
UTSW |
7 |
26,466,187 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0865:Cyp2b19
|
UTSW |
7 |
26,461,654 (GRCm39) |
splice site |
probably benign |
|
|
R1514:Cyp2b19
|
UTSW |
7 |
26,466,585 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1681:Cyp2b19
|
UTSW |
7 |
26,462,765 (GRCm39) |
splice site |
probably null |
|
|
R2362:Cyp2b19
|
UTSW |
7 |
26,463,802 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4015:Cyp2b19
|
UTSW |
7 |
26,461,768 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4259:Cyp2b19
|
UTSW |
7 |
26,462,807 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4592:Cyp2b19
|
UTSW |
7 |
26,470,819 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4705:Cyp2b19
|
UTSW |
7 |
26,456,717 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4789:Cyp2b19
|
UTSW |
7 |
26,463,801 (GRCm39) |
missense |
probably benign |
0.16 |
|
R5481:Cyp2b19
|
UTSW |
7 |
26,466,246 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5749:Cyp2b19
|
UTSW |
7 |
26,462,844 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R6041:Cyp2b19
|
UTSW |
7 |
26,458,852 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6170:Cyp2b19
|
UTSW |
7 |
26,458,519 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R6259:Cyp2b19
|
UTSW |
7 |
26,470,817 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6370:Cyp2b19
|
UTSW |
7 |
26,462,783 (GRCm39) |
missense |
probably benign |
0.07 |
|
R6519:Cyp2b19
|
UTSW |
7 |
26,458,536 (GRCm39) |
missense |
probably benign |
|
|
R7283:Cyp2b19
|
UTSW |
7 |
26,466,339 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7583:Cyp2b19
|
UTSW |
7 |
26,458,489 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7686:Cyp2b19
|
UTSW |
7 |
26,461,768 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7732:Cyp2b19
|
UTSW |
7 |
26,470,769 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R7831:Cyp2b19
|
UTSW |
7 |
26,466,565 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R8035:Cyp2b19
|
UTSW |
7 |
26,470,675 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8853:Cyp2b19
|
UTSW |
7 |
26,456,645 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R9574:Cyp2b19
|
UTSW |
7 |
26,466,353 (GRCm39) |
missense |
probably null |
1.00 |
|
R9574:Cyp2b19
|
UTSW |
7 |
26,466,352 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9650:Cyp2b19
|
UTSW |
7 |
26,466,208 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R9681:Cyp2b19
|
UTSW |
7 |
26,466,328 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AACTGGGTCACTGTGCATCAC -3'
(R):5'- AGATGTTAACATACCCCGACTC -3'
Sequencing Primer
(F):5'- TGTGCATCACCTCCAAGAAGGG -3'
(R):5'- TTCCTAAGAAACACAGAATGCTGG -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation