Incidental Mutation 'R0552:Pyroxd1'
ID |
45234 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pyroxd1
|
Ensembl Gene |
ENSMUSG00000041671 |
Gene Name |
pyridine nucleotide-disulphide oxidoreductase domain 1 |
Synonyms |
|
MMRRC Submission |
038744-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0552 (G1)
|
Quality Score |
149 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
142291381-142307881 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 142291463 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 2
(E2G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000036394
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032370]
[ENSMUST00000041852]
|
AlphaFold |
Q3TMV7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000032370
|
SMART Domains |
Protein: ENSMUSP00000032370 Gene: ENSMUSG00000030243
Domain | Start | End | E-Value | Type |
coiled coil region
|
6 |
51 |
N/A |
INTRINSIC |
DEXDc
|
88 |
291 |
2.5e-27 |
SMART |
HELICc
|
328 |
409 |
2.2e-26 |
SMART |
Pfam:RQC
|
488 |
592 |
5.5e-6 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000041852
AA Change: E2G
PolyPhen 2
Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000036394 Gene: ENSMUSG00000041671 AA Change: E2G
Domain | Start | End | E-Value | Type |
Pfam:Pyr_redox_2
|
8 |
234 |
2.2e-18 |
PFAM |
Pfam:Pyr_redox_2
|
266 |
381 |
4e-16 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123289
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137098
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204971
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam9 |
A |
T |
8: 25,453,026 (GRCm39) |
N760K |
probably benign |
Het |
Ahcyl |
T |
A |
16: 45,974,955 (GRCm39) |
T141S |
probably benign |
Het |
Akr1b10 |
A |
G |
6: 34,369,920 (GRCm39) |
T216A |
possibly damaging |
Het |
Arsj |
A |
G |
3: 126,232,993 (GRCm39) |
R580G |
probably benign |
Het |
C9 |
A |
T |
15: 6,474,918 (GRCm39) |
I26F |
probably damaging |
Het |
Cacna2d1 |
A |
G |
5: 16,533,041 (GRCm39) |
E578G |
probably damaging |
Het |
Clca4b |
C |
T |
3: 144,622,536 (GRCm39) |
V510I |
probably benign |
Het |
Dab2 |
C |
T |
15: 6,464,895 (GRCm39) |
T561I |
possibly damaging |
Het |
Golga5 |
A |
T |
12: 102,450,752 (GRCm39) |
E12D |
possibly damaging |
Het |
Hsd17b12 |
A |
T |
2: 93,874,280 (GRCm39) |
F208I |
probably damaging |
Het |
Inf2 |
A |
G |
12: 112,579,008 (GRCm39) |
|
probably benign |
Het |
Kcnh3 |
T |
A |
15: 99,127,337 (GRCm39) |
W378R |
probably damaging |
Het |
Klhdc8b |
G |
C |
9: 108,326,422 (GRCm39) |
R158G |
possibly damaging |
Het |
Klhl41 |
G |
A |
2: 69,500,554 (GRCm39) |
R5Q |
probably benign |
Het |
Lcn3 |
T |
C |
2: 25,656,421 (GRCm39) |
|
probably null |
Het |
Mppe1 |
A |
G |
18: 67,370,419 (GRCm39) |
|
probably null |
Het |
Muc20 |
G |
A |
16: 32,614,300 (GRCm39) |
A359V |
probably damaging |
Het |
Myh14 |
T |
C |
7: 44,263,105 (GRCm39) |
D1765G |
probably damaging |
Het |
Or10j2 |
T |
C |
1: 173,098,372 (GRCm39) |
M210T |
probably benign |
Het |
Or4c10b |
C |
T |
2: 89,711,235 (GRCm39) |
Q22* |
probably null |
Het |
Or5p58 |
A |
G |
7: 107,693,985 (GRCm39) |
M264T |
probably benign |
Het |
Pbrm1 |
T |
A |
14: 30,757,916 (GRCm39) |
L182Q |
probably damaging |
Het |
Pde8a |
A |
G |
7: 80,967,095 (GRCm39) |
N412S |
probably benign |
Het |
Phyh |
A |
G |
2: 4,940,912 (GRCm39) |
T271A |
probably damaging |
Het |
Pkhd1l1 |
T |
C |
15: 44,352,942 (GRCm39) |
S258P |
probably damaging |
Het |
Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
Ralgapa1 |
G |
T |
12: 55,723,550 (GRCm39) |
Q2115K |
probably benign |
Het |
Rufy3 |
A |
G |
5: 88,732,129 (GRCm39) |
E44G |
possibly damaging |
Het |
Slit2 |
A |
T |
5: 48,395,721 (GRCm39) |
N712I |
probably damaging |
Het |
Sptbn1 |
A |
G |
11: 30,095,985 (GRCm39) |
M303T |
possibly damaging |
Het |
Ssbp4 |
A |
G |
8: 71,052,509 (GRCm39) |
I154T |
probably benign |
Het |
Syne2 |
A |
G |
12: 75,977,778 (GRCm39) |
K1409E |
probably benign |
Het |
Tfap2b |
T |
C |
1: 19,304,449 (GRCm39) |
Y420H |
probably damaging |
Het |
Tlr5 |
A |
G |
1: 182,803,261 (GRCm39) |
|
probably null |
Het |
Tmprss15 |
C |
T |
16: 78,821,637 (GRCm39) |
|
probably null |
Het |
Tns1 |
A |
T |
1: 73,959,722 (GRCm39) |
I418N |
probably damaging |
Het |
Txlna |
A |
T |
4: 129,522,984 (GRCm39) |
V452D |
probably benign |
Het |
Wdr17 |
C |
T |
8: 55,146,131 (GRCm39) |
A90T |
possibly damaging |
Het |
Zfp563 |
A |
T |
17: 33,323,659 (GRCm39) |
S85C |
possibly damaging |
Het |
Zfp764l1 |
A |
T |
7: 126,991,504 (GRCm39) |
I161N |
possibly damaging |
Het |
|
Other mutations in Pyroxd1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01335:Pyroxd1
|
APN |
6 |
142,307,484 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL01720:Pyroxd1
|
APN |
6 |
142,296,784 (GRCm39) |
splice site |
probably benign |
|
IGL02139:Pyroxd1
|
APN |
6 |
142,300,457 (GRCm39) |
missense |
probably benign |
|
IGL02930:Pyroxd1
|
APN |
6 |
142,304,778 (GRCm39) |
missense |
probably damaging |
1.00 |
R0233:Pyroxd1
|
UTSW |
6 |
142,300,356 (GRCm39) |
missense |
possibly damaging |
0.77 |
R0233:Pyroxd1
|
UTSW |
6 |
142,300,356 (GRCm39) |
missense |
possibly damaging |
0.77 |
R0329:Pyroxd1
|
UTSW |
6 |
142,307,702 (GRCm39) |
missense |
probably benign |
0.37 |
R0505:Pyroxd1
|
UTSW |
6 |
142,299,288 (GRCm39) |
missense |
possibly damaging |
0.55 |
R1073:Pyroxd1
|
UTSW |
6 |
142,294,370 (GRCm39) |
critical splice donor site |
probably null |
|
R1319:Pyroxd1
|
UTSW |
6 |
142,304,874 (GRCm39) |
missense |
probably benign |
0.33 |
R2200:Pyroxd1
|
UTSW |
6 |
142,304,808 (GRCm39) |
missense |
probably benign |
0.01 |
R4638:Pyroxd1
|
UTSW |
6 |
142,300,467 (GRCm39) |
nonsense |
probably null |
|
R4639:Pyroxd1
|
UTSW |
6 |
142,300,467 (GRCm39) |
nonsense |
probably null |
|
R4640:Pyroxd1
|
UTSW |
6 |
142,300,467 (GRCm39) |
nonsense |
probably null |
|
R4641:Pyroxd1
|
UTSW |
6 |
142,300,467 (GRCm39) |
nonsense |
probably null |
|
R4642:Pyroxd1
|
UTSW |
6 |
142,300,467 (GRCm39) |
nonsense |
probably null |
|
R4643:Pyroxd1
|
UTSW |
6 |
142,300,467 (GRCm39) |
nonsense |
probably null |
|
R4645:Pyroxd1
|
UTSW |
6 |
142,300,467 (GRCm39) |
nonsense |
probably null |
|
R4687:Pyroxd1
|
UTSW |
6 |
142,307,594 (GRCm39) |
missense |
probably benign |
0.00 |
R5359:Pyroxd1
|
UTSW |
6 |
142,307,717 (GRCm39) |
missense |
probably damaging |
1.00 |
R5688:Pyroxd1
|
UTSW |
6 |
142,299,266 (GRCm39) |
missense |
probably damaging |
1.00 |
R6208:Pyroxd1
|
UTSW |
6 |
142,303,182 (GRCm39) |
missense |
probably benign |
0.00 |
R6295:Pyroxd1
|
UTSW |
6 |
142,300,479 (GRCm39) |
missense |
probably benign |
0.00 |
R7056:Pyroxd1
|
UTSW |
6 |
142,304,808 (GRCm39) |
missense |
probably benign |
0.01 |
R7445:Pyroxd1
|
UTSW |
6 |
142,304,227 (GRCm39) |
missense |
probably benign |
0.03 |
R8925:Pyroxd1
|
UTSW |
6 |
142,300,437 (GRCm39) |
missense |
probably damaging |
1.00 |
R8927:Pyroxd1
|
UTSW |
6 |
142,300,437 (GRCm39) |
missense |
probably damaging |
1.00 |
R8987:Pyroxd1
|
UTSW |
6 |
142,302,251 (GRCm39) |
missense |
|
|
R9555:Pyroxd1
|
UTSW |
6 |
142,300,421 (GRCm39) |
missense |
possibly damaging |
0.65 |
V1662:Pyroxd1
|
UTSW |
6 |
142,304,169 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Predicted Primers |
PCR Primer
(F):5'- GTCTGCCTCCAGATTTTCAAACGC -3'
(R):5'- TTCTGTCCAAACGCCAAGGTCTC -3'
Sequencing Primer
(F):5'- AGATTTTCAAACGCAAAACACG -3'
(R):5'- AGGCACTGTCTACTCCTGG -3'
|
Posted On |
2013-06-11 |