Incidental Mutation 'IGL01801:Cyp2d22'
| ID |
155511 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL01801
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
82254728-82264461 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 82257046 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 312
(T312A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023083
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023083]
[ENSMUST00000228986]
|
| AlphaFold |
Q9JKY7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023083
AA Change: T312A
PolyPhen 2
Score 0.407 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000023083
Gene: ENSMUSG00000061740
AA Change: T312A
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
9 |
28 |
N/A |
INTRINSIC |
|
Pfam:p450
|
37 |
497 |
8.1e-139 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228986
|
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932415M13Rik |
C |
T |
17: 54,031,870 (GRCm39) |
|
noncoding transcript |
Het |
| Acsm4 |
C |
T |
7: 119,306,486 (GRCm39) |
T308I |
possibly damaging |
Het |
| Adamtsl1 |
A |
G |
4: 86,117,559 (GRCm39) |
N174S |
probably benign |
Het |
| Atp1b1 |
C |
T |
1: 164,265,918 (GRCm39) |
G281D |
probably damaging |
Het |
| Cacna1e |
T |
C |
1: 154,347,086 (GRCm39) |
N1027S |
probably null |
Het |
| Cacnb4 |
A |
T |
2: 52,324,723 (GRCm39) |
N446K |
probably benign |
Het |
| Cfap210 |
A |
T |
2: 69,606,623 (GRCm39) |
|
probably benign |
Het |
| Col13a1 |
T |
C |
10: 61,679,393 (GRCm39) |
D215G |
probably damaging |
Het |
| Cyp4f40 |
A |
T |
17: 32,895,279 (GRCm39) |
N467I |
probably damaging |
Het |
| Dnaaf10 |
T |
C |
11: 17,169,015 (GRCm39) |
I62T |
probably benign |
Het |
| Ehd4 |
A |
T |
2: 119,932,822 (GRCm39) |
D201E |
probably damaging |
Het |
| Farsb |
T |
C |
1: 78,435,216 (GRCm39) |
T444A |
probably benign |
Het |
| Gabra6 |
A |
C |
11: 42,205,935 (GRCm39) |
I307R |
probably damaging |
Het |
| Impg2 |
G |
A |
16: 56,057,111 (GRCm39) |
R287H |
probably damaging |
Het |
| Khdrbs1 |
A |
G |
4: 129,635,574 (GRCm39) |
V127A |
probably benign |
Het |
| Lcp1 |
A |
T |
14: 75,436,815 (GRCm39) |
T54S |
probably benign |
Het |
| Mrgpra6 |
T |
C |
7: 46,835,572 (GRCm39) |
D283G |
possibly damaging |
Het |
| Mterf4 |
T |
C |
1: 93,232,642 (GRCm39) |
R70G |
probably benign |
Het |
| Mtmr12 |
T |
C |
15: 12,270,045 (GRCm39) |
L711P |
probably damaging |
Het |
| Or4n4 |
A |
G |
14: 50,519,665 (GRCm39) |
I15T |
probably benign |
Het |
| Pax8 |
A |
G |
2: 24,334,576 (GRCm39) |
|
probably null |
Het |
| Prmt9 |
T |
C |
8: 78,289,069 (GRCm39) |
V257A |
probably damaging |
Het |
| Sspo |
T |
C |
6: 48,434,072 (GRCm39) |
V959A |
probably damaging |
Het |
| Vps54 |
T |
C |
11: 21,225,131 (GRCm39) |
|
probably null |
Het |
| Wdr70 |
C |
T |
15: 7,916,805 (GRCm39) |
|
probably null |
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 |
|
IGL02449:Cyp2d22
|
APN |
15 |
82,257,442 (GRCm39) |
missense |
probably benign |
0.00 |
|
ANU22:Cyp2d22
|
UTSW |
15 |
82,255,869 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
| Posted On |
2014-02-04 |
Incidental Mutation