Incidental Mutation 'R0101:Cyp2d11'
ID |
33221 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cyp2d11
|
Ensembl Gene |
ENSMUSG00000068085 |
Gene Name |
cytochrome P450, family 2, subfamily d, polypeptide 11 |
Synonyms |
P450-2D, Cyp2d |
MMRRC Submission |
038387-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.119)
|
Stock # |
R0101 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
82273355-82278223 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
C to A
at 82274395 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000130338
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000170255]
|
AlphaFold |
P24457 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000170255
|
SMART Domains |
Protein: ENSMUSP00000130338 Gene: ENSMUSG00000068085
Domain | Start | End | E-Value | Type |
transmembrane domain
|
7 |
26 |
N/A |
INTRINSIC |
Pfam:p450
|
37 |
497 |
7.7e-140 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183858
|
Meta Mutation Damage Score |
0.0901 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 94.0%
|
Validation Efficiency |
100% (50/50) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aatk |
C |
T |
11: 119,901,739 (GRCm39) |
D829N |
probably benign |
Het |
B3galnt1 |
A |
G |
3: 69,483,139 (GRCm39) |
Y41H |
probably benign |
Het |
Carmil3 |
A |
C |
14: 55,735,212 (GRCm39) |
|
probably benign |
Het |
Cdh17 |
A |
G |
4: 11,771,341 (GRCm39) |
Q41R |
probably benign |
Het |
Cep43 |
A |
T |
17: 8,388,374 (GRCm39) |
S76C |
possibly damaging |
Het |
Chrm2 |
G |
T |
6: 36,501,430 (GRCm39) |
C429F |
probably damaging |
Het |
Cplane1 |
T |
A |
15: 8,250,444 (GRCm39) |
C1844S |
probably benign |
Het |
Cyld |
T |
A |
8: 89,444,928 (GRCm39) |
|
probably null |
Het |
Dnah1 |
A |
G |
14: 31,005,856 (GRCm39) |
Y2308H |
probably damaging |
Het |
Dnajc27 |
T |
C |
12: 4,139,142 (GRCm39) |
V60A |
probably benign |
Het |
Dnmbp |
A |
G |
19: 43,862,599 (GRCm39) |
V850A |
possibly damaging |
Het |
Emcn |
A |
T |
3: 137,047,001 (GRCm39) |
M1L |
possibly damaging |
Het |
Epc1 |
A |
T |
18: 6,462,998 (GRCm39) |
|
probably benign |
Het |
Fbxo21 |
T |
C |
5: 118,133,521 (GRCm39) |
L310P |
probably damaging |
Het |
Filip1 |
A |
G |
9: 79,726,810 (GRCm39) |
I603T |
probably benign |
Het |
Fndc3b |
A |
G |
3: 27,512,957 (GRCm39) |
V723A |
probably damaging |
Het |
Gemin5 |
G |
A |
11: 58,036,322 (GRCm39) |
P674S |
probably damaging |
Het |
Gsk3a |
T |
C |
7: 24,928,328 (GRCm39) |
D471G |
probably benign |
Het |
Igbp1b |
G |
A |
6: 138,634,658 (GRCm39) |
P262L |
probably damaging |
Het |
Itga11 |
T |
C |
9: 62,651,768 (GRCm39) |
L300S |
probably damaging |
Het |
Itsn2 |
T |
C |
12: 4,683,058 (GRCm39) |
|
probably benign |
Het |
Lhcgr |
A |
G |
17: 89,072,598 (GRCm39) |
S150P |
probably damaging |
Het |
Man1a |
T |
C |
10: 53,951,120 (GRCm39) |
M1V |
probably null |
Het |
Mical2 |
C |
T |
7: 111,936,074 (GRCm39) |
R892C |
possibly damaging |
Het |
Mtus2 |
T |
C |
5: 148,019,845 (GRCm39) |
S747P |
probably damaging |
Het |
Mug1 |
A |
G |
6: 121,861,206 (GRCm39) |
K1276E |
possibly damaging |
Het |
Or1n1b |
A |
G |
2: 36,780,138 (GRCm39) |
S241P |
probably damaging |
Het |
Pfkfb4 |
C |
G |
9: 108,839,711 (GRCm39) |
P260R |
probably benign |
Het |
Prkca |
A |
T |
11: 107,948,626 (GRCm39) |
L121Q |
probably damaging |
Het |
Prpf40b |
T |
C |
15: 99,204,681 (GRCm39) |
|
probably benign |
Het |
Ripor2 |
T |
C |
13: 24,864,615 (GRCm39) |
M215T |
probably damaging |
Het |
Rpn1 |
A |
G |
6: 88,070,769 (GRCm39) |
D213G |
possibly damaging |
Het |
Rreb1 |
C |
A |
13: 38,115,518 (GRCm39) |
P959Q |
probably benign |
Het |
Sema5b |
T |
C |
16: 35,483,472 (GRCm39) |
|
probably benign |
Het |
Slc38a10 |
A |
G |
11: 120,041,903 (GRCm39) |
M1T |
probably null |
Het |
Slco1c1 |
G |
T |
6: 141,477,236 (GRCm39) |
L11F |
probably damaging |
Het |
Spef2 |
T |
C |
15: 9,713,194 (GRCm39) |
T393A |
probably damaging |
Het |
Srp54b |
A |
G |
12: 55,302,405 (GRCm39) |
|
probably benign |
Het |
St14 |
G |
T |
9: 31,008,403 (GRCm39) |
N512K |
probably benign |
Het |
Syce1l |
T |
A |
8: 114,382,061 (GRCm39) |
S237T |
probably benign |
Het |
Taar2 |
G |
A |
10: 23,817,393 (GRCm39) |
R311H |
probably benign |
Het |
Tamm41 |
A |
T |
6: 115,009,207 (GRCm39) |
Y129N |
probably damaging |
Het |
Tctn2 |
T |
C |
5: 124,753,357 (GRCm39) |
|
noncoding transcript |
Het |
Tpr |
T |
C |
1: 150,285,053 (GRCm39) |
|
probably benign |
Het |
Vsig10 |
T |
A |
5: 117,473,134 (GRCm39) |
|
probably null |
Het |
Zfp335 |
T |
C |
2: 164,741,910 (GRCm39) |
K635R |
probably damaging |
Het |
Zfp541 |
A |
G |
7: 15,811,968 (GRCm39) |
Y207C |
probably damaging |
Het |
|
Other mutations in Cyp2d11 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00418:Cyp2d11
|
APN |
15 |
82,276,669 (GRCm39) |
missense |
probably benign |
0.00 |
IGL00896:Cyp2d11
|
APN |
15 |
82,275,275 (GRCm39) |
splice site |
probably benign |
|
IGL02119:Cyp2d11
|
APN |
15 |
82,274,265 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02234:Cyp2d11
|
APN |
15 |
82,274,340 (GRCm39) |
missense |
probably benign |
|
IGL02347:Cyp2d11
|
APN |
15 |
82,274,681 (GRCm39) |
missense |
probably benign |
0.22 |
IGL02352:Cyp2d11
|
APN |
15 |
82,278,121 (GRCm39) |
missense |
possibly damaging |
0.50 |
IGL02359:Cyp2d11
|
APN |
15 |
82,278,121 (GRCm39) |
missense |
possibly damaging |
0.50 |
IGL02876:Cyp2d11
|
APN |
15 |
82,273,697 (GRCm39) |
missense |
possibly damaging |
0.85 |
IGL03079:Cyp2d11
|
APN |
15 |
82,275,167 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03259:Cyp2d11
|
APN |
15 |
82,274,221 (GRCm39) |
missense |
probably damaging |
0.99 |
FR4340:Cyp2d11
|
UTSW |
15 |
82,274,223 (GRCm39) |
frame shift |
probably null |
|
R0066:Cyp2d11
|
UTSW |
15 |
82,275,958 (GRCm39) |
missense |
probably benign |
|
R0066:Cyp2d11
|
UTSW |
15 |
82,275,958 (GRCm39) |
missense |
probably benign |
|
R0125:Cyp2d11
|
UTSW |
15 |
82,273,422 (GRCm39) |
missense |
probably benign |
0.45 |
R0973:Cyp2d11
|
UTSW |
15 |
82,273,730 (GRCm39) |
missense |
possibly damaging |
0.80 |
R1466:Cyp2d11
|
UTSW |
15 |
82,275,936 (GRCm39) |
missense |
probably benign |
0.00 |
R1466:Cyp2d11
|
UTSW |
15 |
82,275,936 (GRCm39) |
missense |
probably benign |
0.00 |
R1525:Cyp2d11
|
UTSW |
15 |
82,273,498 (GRCm39) |
missense |
probably damaging |
0.98 |
R1708:Cyp2d11
|
UTSW |
15 |
82,274,633 (GRCm39) |
missense |
probably benign |
0.01 |
R1968:Cyp2d11
|
UTSW |
15 |
82,273,749 (GRCm39) |
missense |
probably benign |
0.01 |
R2117:Cyp2d11
|
UTSW |
15 |
82,275,954 (GRCm39) |
missense |
probably damaging |
0.99 |
R2223:Cyp2d11
|
UTSW |
15 |
82,274,332 (GRCm39) |
missense |
probably benign |
0.23 |
R2405:Cyp2d11
|
UTSW |
15 |
82,273,467 (GRCm39) |
missense |
possibly damaging |
0.88 |
R3745:Cyp2d11
|
UTSW |
15 |
82,276,056 (GRCm39) |
missense |
probably benign |
0.31 |
R4081:Cyp2d11
|
UTSW |
15 |
82,276,002 (GRCm39) |
missense |
possibly damaging |
0.86 |
R4496:Cyp2d11
|
UTSW |
15 |
82,276,149 (GRCm39) |
splice site |
probably benign |
|
R4732:Cyp2d11
|
UTSW |
15 |
82,273,428 (GRCm39) |
missense |
probably benign |
0.03 |
R4733:Cyp2d11
|
UTSW |
15 |
82,273,428 (GRCm39) |
missense |
probably benign |
0.03 |
R4880:Cyp2d11
|
UTSW |
15 |
82,276,306 (GRCm39) |
missense |
probably benign |
0.01 |
R4898:Cyp2d11
|
UTSW |
15 |
82,275,224 (GRCm39) |
missense |
probably benign |
0.03 |
R5045:Cyp2d11
|
UTSW |
15 |
82,275,272 (GRCm39) |
critical splice acceptor site |
probably null |
|
R5328:Cyp2d11
|
UTSW |
15 |
82,275,972 (GRCm39) |
missense |
probably benign |
0.04 |
R5356:Cyp2d11
|
UTSW |
15 |
82,274,712 (GRCm39) |
missense |
probably benign |
0.11 |
R5397:Cyp2d11
|
UTSW |
15 |
82,276,279 (GRCm39) |
missense |
probably damaging |
1.00 |
R5582:Cyp2d11
|
UTSW |
15 |
82,276,319 (GRCm39) |
splice site |
probably null |
|
R6862:Cyp2d11
|
UTSW |
15 |
82,274,339 (GRCm39) |
missense |
probably benign |
|
R7194:Cyp2d11
|
UTSW |
15 |
82,275,969 (GRCm39) |
missense |
probably benign |
|
R8097:Cyp2d11
|
UTSW |
15 |
82,274,581 (GRCm39) |
critical splice donor site |
probably null |
|
R8122:Cyp2d11
|
UTSW |
15 |
82,276,744 (GRCm39) |
missense |
probably benign |
0.27 |
R8152:Cyp2d11
|
UTSW |
15 |
82,276,688 (GRCm39) |
missense |
probably benign |
|
R8194:Cyp2d11
|
UTSW |
15 |
82,274,638 (GRCm39) |
missense |
probably damaging |
1.00 |
R8531:Cyp2d11
|
UTSW |
15 |
82,273,429 (GRCm39) |
missense |
probably benign |
|
R8894:Cyp2d11
|
UTSW |
15 |
82,274,671 (GRCm39) |
missense |
probably benign |
0.22 |
R8905:Cyp2d11
|
UTSW |
15 |
82,275,102 (GRCm39) |
missense |
probably benign |
0.00 |
R9112:Cyp2d11
|
UTSW |
15 |
82,276,203 (GRCm39) |
missense |
possibly damaging |
0.94 |
Z1088:Cyp2d11
|
UTSW |
15 |
82,274,312 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1177:Cyp2d11
|
UTSW |
15 |
82,276,700 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Predicted Primers |
PCR Primer
(F):5'- GACTTGTGATGCGTGGCAAAGG -3'
(R):5'- GGGAATCCTGAGAGCAGCTTCAATG -3'
Sequencing Primer
(F):5'- GCAGTGGAGCAATGTCCC -3'
(R):5'- GCTTCAATGATGAGAACCTGC -3'
|
Posted On |
2013-05-09 |