Incidental Mutation 'R3155:Cyp2d9'
ID |
263477 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cyp2d9
|
Ensembl Gene |
ENSMUSG00000068086 |
Gene Name |
cytochrome P450, family 2, subfamily d, polypeptide 9 |
Synonyms |
testosterone 16alpha-hydroxylase, P450-2D, Cyp2d |
MMRRC Submission |
040606-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.153)
|
Stock # |
R3155 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
82336578-82341028 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to A
at 82336843 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000155611
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089129]
[ENSMUST00000089129]
[ENSMUST00000089129]
[ENSMUST00000089129]
[ENSMUST00000229313]
[ENSMUST00000229313]
[ENSMUST00000229313]
[ENSMUST00000229313]
[ENSMUST00000229473]
[ENSMUST00000229793]
[ENSMUST00000230000]
[ENSMUST00000230191]
[ENSMUST00000231136]
[ENSMUST00000231136]
[ENSMUST00000231136]
[ENSMUST00000231136]
[ENSMUST00000230024]
|
AlphaFold |
P11714 |
Predicted Effect |
probably null
Transcript: ENSMUST00000089129
|
SMART Domains |
Protein: ENSMUSP00000086530 Gene: ENSMUSG00000068086
Domain | Start | End | E-Value | Type |
Pfam:p450
|
37 |
497 |
1.7e-142 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000089129
|
SMART Domains |
Protein: ENSMUSP00000086530 Gene: ENSMUSG00000068086
Domain | Start | End | E-Value | Type |
Pfam:p450
|
37 |
497 |
1.7e-142 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000089129
|
SMART Domains |
Protein: ENSMUSP00000086530 Gene: ENSMUSG00000068086
Domain | Start | End | E-Value | Type |
Pfam:p450
|
37 |
497 |
1.7e-142 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000089129
|
SMART Domains |
Protein: ENSMUSP00000086530 Gene: ENSMUSG00000068086
Domain | Start | End | E-Value | Type |
Pfam:p450
|
37 |
497 |
1.7e-142 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183779
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229181
|
Predicted Effect |
probably null
Transcript: ENSMUST00000229313
|
Predicted Effect |
probably null
Transcript: ENSMUST00000229313
|
Predicted Effect |
probably null
Transcript: ENSMUST00000229313
|
Predicted Effect |
probably null
Transcript: ENSMUST00000229313
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000229473
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000229793
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000230000
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000230191
|
Predicted Effect |
probably null
Transcript: ENSMUST00000231136
|
Predicted Effect |
probably null
Transcript: ENSMUST00000231136
|
Predicted Effect |
probably null
Transcript: ENSMUST00000231136
|
Predicted Effect |
probably null
Transcript: ENSMUST00000231136
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000230024
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231044
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
Validation Efficiency |
100% (39/39) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933407L21Rik |
T |
C |
1: 85,859,104 (GRCm39) |
|
probably benign |
Het |
Aco1 |
T |
C |
4: 40,182,915 (GRCm39) |
V487A |
probably damaging |
Het |
Adh1 |
A |
G |
3: 137,986,250 (GRCm39) |
E79G |
probably damaging |
Het |
Aebp1 |
A |
G |
11: 5,821,425 (GRCm39) |
N608S |
probably benign |
Het |
Ahctf1 |
G |
A |
1: 179,583,148 (GRCm39) |
R43C |
probably damaging |
Het |
Ahnak |
A |
T |
19: 8,987,541 (GRCm39) |
I2942L |
possibly damaging |
Het |
Anxa9 |
A |
T |
3: 95,209,716 (GRCm39) |
D134E |
probably benign |
Het |
Ccdc14 |
A |
G |
16: 34,544,222 (GRCm39) |
D860G |
probably damaging |
Het |
Cdhr3 |
T |
A |
12: 33,099,152 (GRCm39) |
I480F |
possibly damaging |
Het |
Cldn34a |
C |
T |
X: 151,346,840 (GRCm39) |
H171Y |
probably benign |
Het |
Dmbt1 |
T |
A |
7: 130,651,887 (GRCm39) |
Y376* |
probably null |
Het |
Fancm |
T |
C |
12: 65,163,195 (GRCm39) |
I1453T |
probably benign |
Het |
Fbxw11 |
A |
G |
11: 32,689,244 (GRCm39) |
I456V |
possibly damaging |
Het |
Fut2 |
A |
T |
7: 45,300,091 (GRCm39) |
L227Q |
probably damaging |
Het |
Gbp5 |
T |
C |
3: 142,208,888 (GRCm39) |
|
probably null |
Het |
Glrp1 |
C |
A |
1: 88,430,976 (GRCm39) |
Q131H |
unknown |
Het |
Gm6871 |
T |
C |
7: 41,223,079 (GRCm39) |
N3S |
probably benign |
Het |
H2-Eb1 |
C |
A |
17: 34,533,348 (GRCm39) |
T190K |
probably damaging |
Het |
Kdr |
T |
A |
5: 76,129,065 (GRCm39) |
I194F |
probably benign |
Het |
Klhdc7a |
A |
G |
4: 139,694,500 (GRCm39) |
V149A |
probably benign |
Het |
Lrit3 |
A |
G |
3: 129,585,044 (GRCm39) |
F238S |
probably benign |
Het |
Map10 |
A |
T |
8: 126,398,313 (GRCm39) |
I569F |
possibly damaging |
Het |
Myh6 |
A |
G |
14: 55,182,125 (GRCm39) |
I1761T |
probably damaging |
Het |
Npc1l1 |
A |
C |
11: 6,171,840 (GRCm39) |
D874E |
probably benign |
Het |
Or4k15c |
T |
C |
14: 50,321,982 (GRCm39) |
D52G |
probably benign |
Het |
Or8c17 |
T |
A |
9: 38,179,836 (GRCm39) |
M1K |
probably null |
Het |
Pawr |
A |
G |
10: 108,245,370 (GRCm39) |
T193A |
probably benign |
Het |
Ppp2r3d |
T |
C |
9: 101,089,559 (GRCm39) |
K255E |
possibly damaging |
Het |
Rbp3 |
A |
T |
14: 33,679,071 (GRCm39) |
K1006N |
probably damaging |
Het |
Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
Rin2 |
A |
G |
2: 145,702,771 (GRCm39) |
K489R |
probably benign |
Het |
Rlf |
A |
G |
4: 121,006,529 (GRCm39) |
V817A |
probably damaging |
Het |
Rusc1 |
T |
C |
3: 88,999,038 (GRCm39) |
D248G |
probably benign |
Het |
Slc15a4 |
A |
G |
5: 127,681,600 (GRCm39) |
|
probably null |
Het |
Stk4 |
T |
A |
2: 163,993,663 (GRCm39) |
M98K |
probably benign |
Het |
Taf15 |
T |
A |
11: 83,393,599 (GRCm39) |
H307Q |
probably benign |
Het |
Urgcp |
A |
T |
11: 5,666,327 (GRCm39) |
F670L |
probably damaging |
Het |
Vmn2r76 |
T |
C |
7: 85,874,959 (GRCm39) |
T673A |
probably damaging |
Het |
Zfp324 |
G |
A |
7: 12,702,817 (GRCm39) |
M60I |
probably damaging |
Het |
|
Other mutations in Cyp2d9 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00516:Cyp2d9
|
APN |
15 |
82,339,295 (GRCm39) |
missense |
probably benign |
0.05 |
IGL00587:Cyp2d9
|
APN |
15 |
82,339,344 (GRCm39) |
missense |
possibly damaging |
0.89 |
IGL00815:Cyp2d9
|
APN |
15 |
82,340,576 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL03023:Cyp2d9
|
APN |
15 |
82,339,719 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03410:Cyp2d9
|
APN |
15 |
82,340,900 (GRCm39) |
missense |
probably benign |
0.00 |
R0417:Cyp2d9
|
UTSW |
15 |
82,340,152 (GRCm39) |
missense |
probably damaging |
1.00 |
R0627:Cyp2d9
|
UTSW |
15 |
82,339,991 (GRCm39) |
missense |
probably damaging |
1.00 |
R1326:Cyp2d9
|
UTSW |
15 |
82,339,357 (GRCm39) |
missense |
possibly damaging |
0.50 |
R1501:Cyp2d9
|
UTSW |
15 |
82,338,525 (GRCm39) |
nonsense |
probably null |
|
R1893:Cyp2d9
|
UTSW |
15 |
82,336,807 (GRCm39) |
missense |
probably damaging |
0.97 |
R2496:Cyp2d9
|
UTSW |
15 |
82,336,680 (GRCm39) |
missense |
probably damaging |
1.00 |
R2519:Cyp2d9
|
UTSW |
15 |
82,338,719 (GRCm39) |
splice site |
probably null |
|
R4691:Cyp2d9
|
UTSW |
15 |
82,340,033 (GRCm39) |
missense |
probably damaging |
1.00 |
R4727:Cyp2d9
|
UTSW |
15 |
82,338,602 (GRCm39) |
start codon destroyed |
probably null |
0.99 |
R4770:Cyp2d9
|
UTSW |
15 |
82,336,774 (GRCm39) |
missense |
probably damaging |
0.98 |
R5319:Cyp2d9
|
UTSW |
15 |
82,338,256 (GRCm39) |
missense |
probably damaging |
1.00 |
R5486:Cyp2d9
|
UTSW |
15 |
82,336,779 (GRCm39) |
missense |
probably damaging |
0.96 |
R5516:Cyp2d9
|
UTSW |
15 |
82,338,528 (GRCm39) |
missense |
probably null |
1.00 |
R5646:Cyp2d9
|
UTSW |
15 |
82,336,665 (GRCm39) |
missense |
probably benign |
0.01 |
R5898:Cyp2d9
|
UTSW |
15 |
82,339,725 (GRCm39) |
missense |
probably benign |
0.02 |
R6193:Cyp2d9
|
UTSW |
15 |
82,336,728 (GRCm39) |
missense |
probably benign |
0.01 |
R6288:Cyp2d9
|
UTSW |
15 |
82,340,616 (GRCm39) |
missense |
probably damaging |
1.00 |
R6924:Cyp2d9
|
UTSW |
15 |
82,339,413 (GRCm39) |
missense |
probably damaging |
1.00 |
R7524:Cyp2d9
|
UTSW |
15 |
82,340,146 (GRCm39) |
missense |
probably damaging |
1.00 |
R7525:Cyp2d9
|
UTSW |
15 |
82,338,293 (GRCm39) |
missense |
possibly damaging |
0.91 |
R7731:Cyp2d9
|
UTSW |
15 |
82,339,633 (GRCm39) |
critical splice acceptor site |
probably null |
|
R7889:Cyp2d9
|
UTSW |
15 |
82,340,027 (GRCm39) |
missense |
probably damaging |
0.97 |
R8353:Cyp2d9
|
UTSW |
15 |
82,336,720 (GRCm39) |
missense |
probably damaging |
0.99 |
R8682:Cyp2d9
|
UTSW |
15 |
82,337,917 (GRCm39) |
missense |
probably damaging |
1.00 |
R8709:Cyp2d9
|
UTSW |
15 |
82,339,276 (GRCm39) |
missense |
probably benign |
0.19 |
R9159:Cyp2d9
|
UTSW |
15 |
82,338,572 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
Predicted Primers |
PCR Primer
(F):5'- TCATTGGTCTCTGGGAAGCC -3'
(R):5'- AAATACTGTTGTCACATCCTGCTTC -3'
Sequencing Primer
(F):5'- CTGACTGGGACTGACCTGTG -3'
(R):5'- ACATCCTGCTTCACCTCCTGG -3'
|
Posted On |
2015-02-05 |