Incidental Mutation 'ANU22:Cyp2d22'
| ID |
262607 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyp2d22
|
| Ensembl Gene |
ENSMUSG00000061740 |
| Gene Name |
cytochrome P450, family 2, subfamily d, polypeptide 22 |
| Synonyms |
2D22 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
ANU22
|
| Quality Score |
167 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
82254728-82264461 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 82255869 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 461
(T461I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023083
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023083]
[ENSMUST00000228986]
|
| AlphaFold |
Q9JKY7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023083
AA Change: T461I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000023083
Gene: ENSMUSG00000061740
AA Change: T461I
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
9 |
28 |
N/A |
INTRINSIC |
|
Pfam:p450
|
37 |
497 |
8.1e-139 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000228986
AA Change: T223I
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229438
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229599
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230370
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230663
|
| Coding Region Coverage |
- 1x: 98.7%
- 3x: 98.1%
- 10x: 96.2%
- 20x: 92.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aco2 |
A |
G |
15: 81,797,915 (GRCm39) |
E663G |
possibly damaging |
Het |
| Adam29 |
T |
A |
8: 56,324,879 (GRCm39) |
H525L |
probably benign |
Het |
| Adamts2 |
A |
G |
11: 50,628,190 (GRCm39) |
N297D |
probably benign |
Het |
| Adamts6 |
T |
A |
13: 104,526,590 (GRCm39) |
V506E |
probably damaging |
Het |
| Ankfy1 |
G |
A |
11: 72,655,617 (GRCm39) |
E1101K |
probably damaging |
Het |
| Arap3 |
C |
T |
18: 38,124,380 (GRCm39) |
|
probably null |
Het |
| Asxl3 |
T |
A |
18: 22,649,503 (GRCm39) |
H497Q |
probably benign |
Het |
| Caln1 |
A |
G |
5: 130,698,392 (GRCm39) |
E96G |
probably damaging |
Het |
| Cdh23 |
T |
C |
10: 60,148,403 (GRCm39) |
T2653A |
probably damaging |
Het |
| Cdk5rap2 |
T |
A |
4: 70,298,472 (GRCm39) |
I87F |
possibly damaging |
Het |
| Crybg3 |
T |
A |
16: 59,349,590 (GRCm39) |
H934L |
probably damaging |
Het |
| Dhcr24 |
T |
C |
4: 106,429,475 (GRCm39) |
F183L |
possibly damaging |
Het |
| Dusp16 |
A |
T |
6: 134,695,824 (GRCm39) |
S336T |
probably benign |
Het |
| F930017D23Rik |
T |
G |
10: 43,480,371 (GRCm39) |
|
noncoding transcript |
Het |
| Fasl |
A |
G |
1: 161,609,407 (GRCm39) |
V193A |
probably damaging |
Het |
| Fgf5 |
T |
C |
5: 98,423,175 (GRCm39) |
Y187H |
probably damaging |
Het |
| Focad |
C |
A |
4: 88,311,784 (GRCm39) |
Q1423K |
probably benign |
Het |
| Gabrp |
T |
C |
11: 33,505,055 (GRCm39) |
T249A |
probably damaging |
Het |
| Galnt5 |
A |
T |
2: 57,915,354 (GRCm39) |
K637* |
probably null |
Het |
| Grm6 |
A |
T |
11: 50,750,346 (GRCm39) |
D503V |
probably benign |
Het |
| Hmg20a |
A |
T |
9: 56,394,934 (GRCm39) |
D216V |
probably damaging |
Het |
| Lyst |
C |
T |
13: 13,852,641 (GRCm39) |
R2214C |
probably benign |
Het |
| Micu2 |
T |
A |
14: 58,181,082 (GRCm39) |
D184V |
probably damaging |
Het |
| Nabp2 |
T |
A |
10: 128,244,631 (GRCm39) |
I52F |
probably damaging |
Het |
| Nat8f7 |
A |
T |
6: 85,684,570 (GRCm39) |
L90* |
probably null |
Het |
| Or2z2 |
A |
T |
11: 58,346,088 (GRCm39) |
M229K |
probably damaging |
Het |
| Or4k47 |
T |
C |
2: 111,451,546 (GRCm39) |
N291S |
probably damaging |
Het |
| Pphln1 |
A |
G |
15: 93,386,985 (GRCm39) |
E273G |
probably damaging |
Het |
| Ppil1 |
C |
A |
17: 29,482,862 (GRCm39) |
V14F |
possibly damaging |
Het |
| Ptprd |
C |
A |
4: 76,018,693 (GRCm39) |
D694Y |
probably damaging |
Het |
| Relt |
A |
T |
7: 100,500,905 (GRCm39) |
L28Q |
probably damaging |
Het |
| Skic8 |
C |
A |
9: 54,635,470 (GRCm39) |
V44L |
probably damaging |
Het |
| Sptbn4 |
G |
A |
7: 27,056,812 (GRCm39) |
R2525* |
probably null |
Het |
| St8sia5 |
G |
A |
18: 77,342,358 (GRCm39) |
G320D |
probably damaging |
Het |
| Taf2 |
T |
C |
15: 54,911,670 (GRCm39) |
E582G |
probably damaging |
Het |
| Tas2r116 |
T |
A |
6: 132,832,406 (GRCm39) |
N2K |
probably benign |
Het |
| Tedc1 |
C |
T |
12: 113,126,808 (GRCm39) |
R357* |
probably null |
Het |
| Tmem168 |
A |
T |
6: 13,583,045 (GRCm39) |
V612E |
probably damaging |
Het |
| Unc79 |
A |
G |
12: 102,968,130 (GRCm39) |
S119G |
probably damaging |
Het |
| Washc5 |
T |
A |
15: 59,227,688 (GRCm39) |
K425* |
probably null |
Het |
| Wtap |
G |
T |
17: 13,186,782 (GRCm39) |
T255K |
probably benign |
Het |
| Zfp148 |
T |
C |
16: 33,277,313 (GRCm39) |
V134A |
probably benign |
Het |
| Zfp397 |
C |
T |
18: 24,093,808 (GRCm39) |
S431L |
probably damaging |
Het |
|
| Other mutations in Cyp2d22 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01305:Cyp2d22
|
APN |
15 |
82,255,869 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01750:Cyp2d22
|
APN |
15 |
82,258,570 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL01801:Cyp2d22
|
APN |
15 |
82,257,046 (GRCm39) |
missense |
probably benign |
0.41 |
|
IGL02449:Cyp2d22
|
APN |
15 |
82,257,442 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0165:Cyp2d22
|
UTSW |
15 |
82,257,481 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0294:Cyp2d22
|
UTSW |
15 |
82,258,646 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1381:Cyp2d22
|
UTSW |
15 |
82,256,709 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1479:Cyp2d22
|
UTSW |
15 |
82,256,137 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1562:Cyp2d22
|
UTSW |
15 |
82,258,179 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1968:Cyp2d22
|
UTSW |
15 |
82,257,373 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1972:Cyp2d22
|
UTSW |
15 |
82,260,028 (GRCm39) |
missense |
probably benign |
0.11 |
|
R4492:Cyp2d22
|
UTSW |
15 |
82,258,571 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4575:Cyp2d22
|
UTSW |
15 |
82,256,133 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4702:Cyp2d22
|
UTSW |
15 |
82,260,118 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4703:Cyp2d22
|
UTSW |
15 |
82,260,118 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5344:Cyp2d22
|
UTSW |
15 |
82,255,839 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5523:Cyp2d22
|
UTSW |
15 |
82,256,772 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5888:Cyp2d22
|
UTSW |
15 |
82,258,014 (GRCm39) |
missense |
probably benign |
|
|
R6060:Cyp2d22
|
UTSW |
15 |
82,260,086 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6108:Cyp2d22
|
UTSW |
15 |
82,256,106 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R6146:Cyp2d22
|
UTSW |
15 |
82,258,036 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6279:Cyp2d22
|
UTSW |
15 |
82,258,169 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6563:Cyp2d22
|
UTSW |
15 |
82,256,113 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7597:Cyp2d22
|
UTSW |
15 |
82,260,053 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7709:Cyp2d22
|
UTSW |
15 |
82,258,612 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7839:Cyp2d22
|
UTSW |
15 |
82,256,772 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8094:Cyp2d22
|
UTSW |
15 |
82,258,556 (GRCm39) |
missense |
probably benign |
0.19 |
|
R8302:Cyp2d22
|
UTSW |
15 |
82,256,021 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8515:Cyp2d22
|
UTSW |
15 |
82,258,113 (GRCm39) |
missense |
probably benign |
0.27 |
|
R9245:Cyp2d22
|
UTSW |
15 |
82,256,748 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9323:Cyp2d22
|
UTSW |
15 |
82,258,207 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9521:Cyp2d22
|
UTSW |
15 |
82,256,688 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1186:Cyp2d22
|
UTSW |
15 |
82,260,086 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1190:Cyp2d22
|
UTSW |
15 |
82,260,086 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGCACATTAGGACCCCAGCAAG -3'
(R):5'- CCGCGCTAAAAGATGAGACTGTCTG -3'
Sequencing Primer
(F):5'- GCACAGTGAGTGAGATGTCATAC -3'
(R):5'- ATCCTGAACACTTCCTGGATG -3'
|
| Posted On |
2015-02-04 |
Incidental Mutation