Incidental Mutation 'R3834:Cyp2d34'
| ID |
275559 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyp2d34
|
| Ensembl Gene |
ENSMUSG00000094559 |
| Gene Name |
cytochrome P450, family 2, subfamily d, polypeptide 34 |
| Synonyms |
|
| MMRRC Submission |
040889-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.064)
|
| Stock # |
R3834 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
82500166-82505147 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 82500947 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105141
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109515]
[ENSMUST00000229833]
|
| AlphaFold |
L7N463 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000109515
|
| SMART Domains |
Protein: ENSMUSP00000105141
Gene: ENSMUSG00000094559
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
26 |
N/A |
INTRINSIC |
|
Pfam:p450
|
37 |
497 |
3.2e-141 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184667
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229833
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230103
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230716
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231012
|
| Meta Mutation Damage Score |
0.9493 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
100% (44/44) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adh6a |
G |
A |
3: 138,033,275 (GRCm39) |
|
probably null |
Het |
| Bptf |
T |
C |
11: 106,964,683 (GRCm39) |
T1389A |
probably benign |
Het |
| Cfap54 |
A |
G |
10: 92,636,985 (GRCm39) |
|
probably benign |
Het |
| Cimip3 |
AC |
A |
17: 47,744,348 (GRCm39) |
|
probably benign |
Het |
| Coq5 |
G |
T |
5: 115,422,635 (GRCm39) |
G180W |
probably damaging |
Het |
| Cyp2j13 |
C |
T |
4: 95,944,794 (GRCm39) |
|
probably null |
Het |
| Fam114a1 |
C |
T |
5: 65,163,416 (GRCm39) |
T197I |
possibly damaging |
Het |
| Fbxo44 |
A |
G |
4: 148,240,707 (GRCm39) |
Y227H |
probably damaging |
Het |
| Gm5114 |
T |
A |
7: 39,058,161 (GRCm39) |
H486L |
possibly damaging |
Het |
| Grik4 |
T |
C |
9: 42,540,419 (GRCm39) |
R254G |
probably benign |
Het |
| Iqcm |
T |
C |
8: 76,304,380 (GRCm39) |
I47T |
possibly damaging |
Het |
| Kif20b |
A |
G |
19: 34,912,428 (GRCm39) |
Y278C |
probably damaging |
Het |
| Lbhd1 |
G |
A |
19: 8,861,421 (GRCm39) |
C43Y |
probably benign |
Het |
| Lrfn5 |
T |
A |
12: 61,886,816 (GRCm39) |
D201E |
probably damaging |
Het |
| Map1a |
G |
A |
2: 121,137,803 (GRCm39) |
G2635D |
probably damaging |
Het |
| Ms4a4a |
A |
T |
19: 11,356,219 (GRCm39) |
M35L |
probably benign |
Het |
| Muc5b |
A |
T |
7: 141,412,918 (GRCm39) |
I1955F |
unknown |
Het |
| Mug2 |
T |
C |
6: 122,026,746 (GRCm39) |
|
probably null |
Het |
| Nav2 |
T |
A |
7: 49,195,606 (GRCm39) |
I994N |
possibly damaging |
Het |
| Ngly1 |
T |
C |
14: 16,290,766 (GRCm38) |
|
probably benign |
Het |
| Nr1i2 |
T |
C |
16: 38,074,291 (GRCm39) |
|
probably null |
Het |
| Or51f5 |
A |
G |
7: 102,424,493 (GRCm39) |
Y254C |
probably damaging |
Het |
| Or52h9 |
T |
A |
7: 104,202,552 (GRCm39) |
V142D |
probably benign |
Het |
| Or5p69 |
A |
T |
7: 107,967,279 (GRCm39) |
D194V |
probably damaging |
Het |
| Oxct2a |
C |
T |
4: 123,216,266 (GRCm39) |
V372I |
probably benign |
Het |
| Pax6 |
G |
A |
2: 105,526,795 (GRCm39) |
E234K |
probably benign |
Het |
| Pramel14 |
T |
A |
4: 143,720,796 (GRCm39) |
K48N |
probably benign |
Het |
| Prkdc |
A |
G |
16: 15,609,810 (GRCm39) |
E3138G |
probably damaging |
Het |
| Ptprc |
T |
A |
1: 138,011,305 (GRCm39) |
N584I |
probably damaging |
Het |
| Ptprt |
A |
G |
2: 161,389,307 (GRCm39) |
V1261A |
probably damaging |
Het |
| Rps20 |
A |
T |
4: 3,834,610 (GRCm39) |
I84N |
probably damaging |
Het |
| Scd3 |
A |
G |
19: 44,230,156 (GRCm39) |
Y313C |
probably damaging |
Het |
| Sertad2 |
T |
C |
11: 20,598,482 (GRCm39) |
I226T |
probably benign |
Het |
| Slc15a2 |
A |
T |
16: 36,592,490 (GRCm39) |
C191* |
probably null |
Het |
| Slco1a1 |
G |
T |
6: 141,889,163 (GRCm39) |
Q50K |
possibly damaging |
Het |
| Stab2 |
A |
T |
10: 86,785,776 (GRCm39) |
I622N |
possibly damaging |
Het |
| Tmc4 |
C |
T |
7: 3,675,006 (GRCm39) |
V222M |
probably benign |
Het |
| Tmem145 |
T |
C |
7: 25,010,786 (GRCm39) |
F359L |
probably damaging |
Het |
| Tmem238 |
C |
A |
7: 4,792,078 (GRCm39) |
R155L |
possibly damaging |
Het |
| Vmn1r32 |
C |
A |
6: 66,530,647 (GRCm39) |
C43F |
probably benign |
Het |
| Vmn2r104 |
C |
T |
17: 20,250,183 (GRCm39) |
R696K |
probably benign |
Het |
|
| Other mutations in Cyp2d34 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00743:Cyp2d34
|
APN |
15 |
82,501,736 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL00914:Cyp2d34
|
APN |
15 |
82,504,915 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01347:Cyp2d34
|
APN |
15 |
82,500,978 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL01354:Cyp2d34
|
APN |
15 |
82,501,823 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01681:Cyp2d34
|
APN |
15 |
82,501,332 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01733:Cyp2d34
|
APN |
15 |
82,502,861 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
IGL02231:Cyp2d34
|
APN |
15 |
82,502,807 (GRCm39) |
missense |
probably benign |
0.44 |
|
IGL02425:Cyp2d34
|
APN |
15 |
82,502,480 (GRCm39) |
missense |
probably benign |
|
|
IGL03219:Cyp2d34
|
APN |
15 |
82,502,740 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0684:Cyp2d34
|
UTSW |
15 |
82,501,751 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0811:Cyp2d34
|
UTSW |
15 |
82,502,807 (GRCm39) |
missense |
probably benign |
0.44 |
|
R0812:Cyp2d34
|
UTSW |
15 |
82,502,807 (GRCm39) |
missense |
probably benign |
0.44 |
|
R1617:Cyp2d34
|
UTSW |
15 |
82,505,046 (GRCm39) |
missense |
probably benign |
0.21 |
|
R1756:Cyp2d34
|
UTSW |
15 |
82,501,725 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1827:Cyp2d34
|
UTSW |
15 |
82,500,295 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1962:Cyp2d34
|
UTSW |
15 |
82,502,809 (GRCm39) |
missense |
probably benign |
0.10 |
|
R2102:Cyp2d34
|
UTSW |
15 |
82,500,974 (GRCm39) |
missense |
probably benign |
0.17 |
|
R2113:Cyp2d34
|
UTSW |
15 |
82,501,817 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2432:Cyp2d34
|
UTSW |
15 |
82,503,212 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2566:Cyp2d34
|
UTSW |
15 |
82,500,368 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3154:Cyp2d34
|
UTSW |
15 |
82,501,767 (GRCm39) |
missense |
probably benign |
0.04 |
|
R3881:Cyp2d34
|
UTSW |
15 |
82,502,818 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4022:Cyp2d34
|
UTSW |
15 |
82,502,809 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4181:Cyp2d34
|
UTSW |
15 |
82,501,486 (GRCm39) |
splice site |
probably null |
|
|
R4613:Cyp2d34
|
UTSW |
15 |
82,500,526 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4636:Cyp2d34
|
UTSW |
15 |
82,504,929 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4695:Cyp2d34
|
UTSW |
15 |
82,501,092 (GRCm39) |
missense |
probably benign |
|
|
R4993:Cyp2d34
|
UTSW |
15 |
82,502,530 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5262:Cyp2d34
|
UTSW |
15 |
82,502,572 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5402:Cyp2d34
|
UTSW |
15 |
82,503,287 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5772:Cyp2d34
|
UTSW |
15 |
82,501,341 (GRCm39) |
missense |
probably null |
0.24 |
|
R5874:Cyp2d34
|
UTSW |
15 |
82,503,243 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6051:Cyp2d34
|
UTSW |
15 |
82,500,971 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6057:Cyp2d34
|
UTSW |
15 |
82,500,552 (GRCm39) |
missense |
probably benign |
|
|
R6143:Cyp2d34
|
UTSW |
15 |
82,504,977 (GRCm39) |
missense |
probably benign |
0.25 |
|
R6452:Cyp2d34
|
UTSW |
15 |
82,500,290 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7296:Cyp2d34
|
UTSW |
15 |
82,501,436 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7391:Cyp2d34
|
UTSW |
15 |
82,502,587 (GRCm39) |
missense |
probably benign |
0.14 |
|
R7398:Cyp2d34
|
UTSW |
15 |
82,500,964 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7867:Cyp2d34
|
UTSW |
15 |
82,501,425 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8022:Cyp2d34
|
UTSW |
15 |
82,500,315 (GRCm39) |
nonsense |
probably null |
|
|
R8270:Cyp2d34
|
UTSW |
15 |
82,504,988 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R8365:Cyp2d34
|
UTSW |
15 |
82,504,874 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8691:Cyp2d34
|
UTSW |
15 |
82,502,471 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8974:Cyp2d34
|
UTSW |
15 |
82,500,537 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9036:Cyp2d34
|
UTSW |
15 |
82,500,523 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9226:Cyp2d34
|
UTSW |
15 |
82,504,901 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGCAACCATCCCTGTGTTC -3'
(R):5'- ACGCTAGGTAGAGTTCAACAG -3'
Sequencing Primer
(F):5'- GTGTTCAATGCTCCATAAAGTGTCC -3'
(R):5'- TTCAACAGGAAATCGATGCAGTC -3'
|
| Posted On |
2015-04-06 |
Incidental Mutation