Incidental Mutation 'R3745:Cyp2d11'
ID |
271187 |
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 |
040731-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.119)
|
Stock # |
R3745 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
82273355-82278223 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 82276056 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Serine
at position 175
(I175S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000130338
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000170255]
|
AlphaFold |
P24457 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000170255
AA Change: I175S
PolyPhen 2
Score 0.305 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000130338 Gene: ENSMUSG00000068085 AA Change: I175S
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 |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
Validation Efficiency |
98% (44/45) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700012B07Rik |
G |
T |
11: 109,684,980 (GRCm39) |
C172* |
probably null |
Het |
Acot9 |
G |
A |
X: 154,054,941 (GRCm39) |
|
probably benign |
Het |
Akap10 |
A |
G |
11: 61,806,131 (GRCm39) |
V199A |
probably benign |
Het |
Aox4 |
C |
T |
1: 58,285,029 (GRCm39) |
H594Y |
probably damaging |
Het |
Arhgap35 |
A |
T |
7: 16,297,647 (GRCm39) |
Y473N |
probably damaging |
Het |
Aspn |
G |
A |
13: 49,720,036 (GRCm39) |
E351K |
probably damaging |
Het |
Astn1 |
G |
T |
1: 158,329,630 (GRCm39) |
A162S |
probably damaging |
Het |
Atosa |
T |
C |
9: 74,917,144 (GRCm39) |
V581A |
probably benign |
Het |
Auts2 |
A |
G |
5: 131,505,425 (GRCm39) |
|
probably benign |
Het |
Cog6 |
A |
T |
3: 52,900,240 (GRCm39) |
M507K |
probably benign |
Het |
Crct1 |
C |
A |
3: 92,922,014 (GRCm39) |
|
probably benign |
Het |
Dclk1 |
A |
G |
3: 55,154,863 (GRCm39) |
N98D |
possibly damaging |
Het |
Erich5 |
T |
A |
15: 34,470,878 (GRCm39) |
C36S |
probably damaging |
Het |
F5 |
A |
G |
1: 164,014,348 (GRCm39) |
I540V |
possibly damaging |
Het |
Fam20a |
A |
T |
11: 109,568,616 (GRCm39) |
S303R |
probably benign |
Het |
Fat3 |
G |
A |
9: 15,909,567 (GRCm39) |
S2145F |
probably damaging |
Het |
Gbp9 |
C |
A |
5: 105,253,724 (GRCm39) |
|
probably benign |
Het |
Gm6408 |
G |
T |
5: 146,421,246 (GRCm39) |
V292F |
probably damaging |
Het |
Kmt2a |
A |
G |
9: 44,742,637 (GRCm39) |
|
probably benign |
Het |
Lrriq1 |
T |
C |
10: 103,006,717 (GRCm39) |
D1136G |
probably damaging |
Het |
Macrod2 |
C |
A |
2: 141,652,549 (GRCm39) |
T204K |
probably damaging |
Het |
Mlkl |
A |
G |
8: 112,042,199 (GRCm39) |
|
probably benign |
Het |
Msantd1 |
T |
A |
5: 35,080,811 (GRCm39) |
V155E |
possibly damaging |
Het |
Myo3b |
A |
G |
2: 70,064,829 (GRCm39) |
|
probably benign |
Het |
Nbn |
T |
A |
4: 15,976,163 (GRCm39) |
C375S |
possibly damaging |
Het |
Nell2 |
A |
C |
15: 95,330,554 (GRCm39) |
C231W |
probably damaging |
Het |
Nipbl |
A |
G |
15: 8,388,358 (GRCm39) |
S421P |
probably benign |
Het |
Npr3 |
A |
T |
15: 11,905,577 (GRCm39) |
V50E |
probably damaging |
Het |
Or4d10 |
A |
G |
19: 12,051,744 (GRCm39) |
L84P |
probably damaging |
Het |
Pclo |
T |
C |
5: 14,728,435 (GRCm39) |
|
probably benign |
Het |
Pkn3 |
A |
G |
2: 29,980,353 (GRCm39) |
K785R |
probably damaging |
Het |
Ppef2 |
T |
A |
5: 92,387,010 (GRCm39) |
|
probably benign |
Het |
Prdm10 |
T |
C |
9: 31,251,703 (GRCm39) |
I357T |
possibly damaging |
Het |
Prrc2c |
G |
A |
1: 162,525,754 (GRCm39) |
T284I |
unknown |
Het |
Psma3 |
T |
C |
12: 71,025,522 (GRCm39) |
S13P |
possibly damaging |
Het |
Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
Rpl6l |
T |
C |
10: 110,962,226 (GRCm39) |
|
noncoding transcript |
Het |
Tex11 |
A |
G |
X: 99,960,178 (GRCm39) |
V522A |
probably benign |
Het |
Thsd7b |
A |
G |
1: 129,605,978 (GRCm39) |
E573G |
probably benign |
Het |
Tom1l1 |
A |
G |
11: 90,548,567 (GRCm39) |
S259P |
probably benign |
Het |
Trpm8 |
A |
G |
1: 88,276,049 (GRCm39) |
E549G |
probably benign |
Het |
Vmn1r66 |
C |
T |
7: 10,008,248 (GRCm39) |
A262T |
possibly damaging |
Het |
Zc3h13 |
T |
A |
14: 75,568,101 (GRCm39) |
D1131E |
probably benign |
Het |
Zfp445 |
A |
C |
9: 122,683,791 (GRCm39) |
D289E |
probably benign |
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 |
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'- ACAGAAGTGTCTCTGTAGGCTG -3'
(R):5'- AGGCGATTCTCTGTGTCTACC -3'
Sequencing Primer
(F):5'- TCTGTAGGCTGCCCTGAAC -3'
(R):5'- TTCGGCCTGGGCAAGAAATC -3'
|
Posted On |
2015-03-18 |