Incidental Mutation 'R4081:Cyp2d11'
ID |
316901 |
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 |
040977-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.119)
|
Stock # |
R4081 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
82273355-82278223 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 82276002 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 193
(I193N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000130338
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000170255]
|
AlphaFold |
P24457 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000170255
AA Change: I193N
PolyPhen 2
Score 0.864 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000130338 Gene: ENSMUSG00000068085 AA Change: I193N
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 |
0.1795 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 96.0%
|
Validation Efficiency |
98% (58/59) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aass |
A |
T |
6: 23,109,497 (GRCm39) |
D324E |
possibly damaging |
Het |
Adad1 |
A |
G |
3: 37,118,512 (GRCm39) |
|
probably null |
Het |
Aim2 |
T |
C |
1: 173,287,417 (GRCm39) |
|
probably null |
Het |
Arhgef1 |
G |
T |
7: 24,625,271 (GRCm39) |
D850Y |
probably damaging |
Het |
Ccnf |
T |
C |
17: 24,442,872 (GRCm39) |
*778W |
probably null |
Het |
Cd53 |
T |
C |
3: 106,669,461 (GRCm39) |
H179R |
probably benign |
Het |
Cit |
G |
T |
5: 116,086,109 (GRCm39) |
R891L |
probably damaging |
Het |
Clec4b1 |
T |
C |
6: 123,046,733 (GRCm39) |
|
probably null |
Het |
Cntrl |
C |
A |
2: 35,051,938 (GRCm39) |
|
probably benign |
Het |
Cntrl |
A |
G |
2: 35,065,137 (GRCm39) |
D2148G |
probably damaging |
Het |
Cpa5 |
T |
C |
6: 30,631,228 (GRCm39) |
S381P |
probably benign |
Het |
Crybg1 |
A |
T |
10: 43,851,035 (GRCm39) |
V1612D |
probably damaging |
Het |
Cwc25 |
G |
T |
11: 97,644,744 (GRCm39) |
Q205K |
probably benign |
Het |
Gdi2 |
T |
A |
13: 3,598,866 (GRCm39) |
C17S |
probably benign |
Het |
Gm5436 |
T |
A |
12: 84,305,489 (GRCm39) |
|
noncoding transcript |
Het |
Ifit1bl1 |
T |
C |
19: 34,572,040 (GRCm39) |
Y139C |
possibly damaging |
Het |
Insr |
A |
T |
8: 3,261,391 (GRCm39) |
M321K |
probably benign |
Het |
Ippk |
T |
A |
13: 49,599,852 (GRCm39) |
L237Q |
probably damaging |
Het |
Itpr1 |
T |
A |
6: 108,368,796 (GRCm39) |
I149N |
probably damaging |
Het |
Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 53,032,934 (GRCm39) |
74 |
probably benign |
Het |
Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
Lrp2 |
T |
A |
2: 69,343,617 (GRCm39) |
H914L |
probably damaging |
Het |
Myd88 |
G |
T |
9: 119,169,053 (GRCm39) |
|
probably benign |
Het |
Myh2 |
T |
C |
11: 67,081,256 (GRCm39) |
S1291P |
probably benign |
Het |
Mylk3 |
G |
A |
8: 86,055,311 (GRCm39) |
L549F |
probably damaging |
Het |
Otog |
T |
C |
7: 45,937,723 (GRCm39) |
S1811P |
possibly damaging |
Het |
Phrf1 |
T |
C |
7: 140,838,970 (GRCm39) |
|
probably benign |
Het |
Plod3 |
G |
C |
5: 137,017,000 (GRCm39) |
A50P |
probably benign |
Het |
Prorp |
G |
T |
12: 55,351,398 (GRCm39) |
V236F |
possibly damaging |
Het |
Ptprh |
T |
A |
7: 4,583,987 (GRCm39) |
T202S |
probably damaging |
Het |
Ptprr |
A |
T |
10: 116,072,615 (GRCm39) |
K329N |
probably benign |
Het |
Rgl3 |
T |
A |
9: 21,898,971 (GRCm39) |
H156L |
possibly damaging |
Het |
Sema6b |
A |
G |
17: 56,435,307 (GRCm39) |
V312A |
probably damaging |
Het |
Sez6l |
T |
C |
5: 112,609,032 (GRCm39) |
I606V |
probably benign |
Het |
Slco1a1 |
T |
C |
6: 141,881,688 (GRCm39) |
E148G |
probably damaging |
Het |
Snph |
T |
C |
2: 151,435,722 (GRCm39) |
D402G |
probably damaging |
Het |
Sohlh1 |
A |
G |
2: 25,735,734 (GRCm39) |
V135A |
probably benign |
Het |
Sox14 |
T |
C |
9: 99,757,277 (GRCm39) |
E154G |
possibly damaging |
Het |
Spta1 |
A |
G |
1: 174,041,632 (GRCm39) |
D1334G |
probably benign |
Het |
Stard13 |
C |
A |
5: 151,016,294 (GRCm39) |
|
probably null |
Het |
Szt2 |
A |
G |
4: 118,230,764 (GRCm39) |
|
probably benign |
Het |
Tab2 |
G |
A |
10: 7,795,595 (GRCm39) |
P296S |
probably damaging |
Het |
Tbx15 |
A |
G |
3: 99,220,370 (GRCm39) |
D48G |
possibly damaging |
Het |
Tex10 |
T |
C |
4: 48,468,873 (GRCm39) |
S101G |
probably benign |
Het |
Tex11 |
C |
A |
X: 99,977,021 (GRCm39) |
A487S |
possibly damaging |
Het |
Tulp4 |
C |
T |
17: 6,282,055 (GRCm39) |
H695Y |
probably damaging |
Het |
Vmn1r66 |
A |
G |
7: 10,008,733 (GRCm39) |
I100T |
probably damaging |
Het |
Vmn2r106 |
A |
T |
17: 20,487,818 (GRCm39) |
Y860* |
probably null |
Het |
Vwa3b |
C |
T |
1: 37,074,905 (GRCm39) |
T24I |
probably damaging |
Het |
Zfp541 |
G |
A |
7: 15,806,060 (GRCm39) |
S65N |
probably benign |
Het |
Zfp992 |
C |
T |
4: 146,551,976 (GRCm39) |
H566Y |
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 |
|
R0101:Cyp2d11
|
UTSW |
15 |
82,274,395 (GRCm39) |
splice site |
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 |
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'- GCATATCCTCCTGCAGTTGAC -3'
(R):5'- AGACACCTCTGTGATGCCTTC -3'
Sequencing Primer
(F):5'- AGAAGGTCTTTCTCACAGCCTTGG -3'
(R):5'- TGATGCCTTCACCGCCCAG -3'
|
Posted On |
2015-05-15 |