Incidental Mutation 'R1319:Pyroxd1'
ID |
157629 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pyroxd1
|
Ensembl Gene |
ENSMUSG00000041671 |
Gene Name |
pyridine nucleotide-disulphide oxidoreductase domain 1 |
Synonyms |
|
MMRRC Submission |
039385-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1319 (G1)
|
Quality Score |
210 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
142291381-142307881 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 142304874 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 367
(V367A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000036394
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032370]
[ENSMUST00000041852]
[ENSMUST00000100832]
[ENSMUST00000111803]
|
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: V367A
PolyPhen 2
Score 0.331 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000036394 Gene: ENSMUSG00000041671 AA Change: V367A
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 |
probably benign
Transcript: ENSMUST00000100832
|
SMART Domains |
Protein: ENSMUSP00000098394 Gene: ENSMUSG00000030243
Domain | Start | End | E-Value | Type |
coiled coil region
|
6 |
51 |
N/A |
INTRINSIC |
DEXDc
|
88 |
291 |
6e-25 |
SMART |
HELICc
|
328 |
409 |
5.51e-24 |
SMART |
Pfam:RQC
|
488 |
592 |
1.1e-8 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000111803
|
SMART Domains |
Protein: ENSMUSP00000107434 Gene: ENSMUSG00000030243
Domain | Start | End | E-Value | Type |
coiled coil region
|
6 |
51 |
N/A |
INTRINSIC |
DEXDc
|
88 |
291 |
6e-25 |
SMART |
HELICc
|
328 |
409 |
5.51e-24 |
SMART |
Pfam:RecQ_Zn_bind
|
420 |
479 |
2.5e-15 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123289
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000123912
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137098
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153912
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154870
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138578
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000141504
|
SMART Domains |
Protein: ENSMUSP00000119452 Gene: ENSMUSG00000030243
Domain | Start | End | E-Value | Type |
Pfam:RecQ_Zn_bind
|
10 |
69 |
7.1e-16 |
PFAM |
Pfam:RQC
|
73 |
187 |
2.5e-8 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.5%
- 20x: 90.3%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 26 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam28 |
T |
C |
14: 68,846,578 (GRCm39) |
E745G |
probably benign |
Het |
Adamts12 |
G |
T |
15: 11,286,877 (GRCm39) |
K827N |
probably benign |
Het |
Ang2 |
T |
C |
14: 51,433,164 (GRCm39) |
T73A |
probably benign |
Het |
Bbs10 |
T |
C |
10: 111,134,735 (GRCm39) |
L51P |
probably damaging |
Het |
Bean1 |
T |
C |
8: 104,943,856 (GRCm39) |
I137T |
probably benign |
Het |
Cimip1 |
A |
T |
2: 173,369,716 (GRCm39) |
S77C |
probably damaging |
Het |
Cttnbp2 |
T |
C |
6: 18,434,629 (GRCm39) |
T410A |
probably benign |
Het |
Cyp4a10 |
A |
C |
4: 115,378,342 (GRCm39) |
I143L |
probably damaging |
Het |
Dlg2 |
A |
T |
7: 92,087,231 (GRCm39) |
Q788L |
probably damaging |
Het |
Epha10 |
G |
A |
4: 124,775,707 (GRCm39) |
V14I |
probably benign |
Het |
Eprs1 |
G |
A |
1: 185,117,159 (GRCm39) |
D401N |
probably damaging |
Het |
Fam169a |
T |
C |
13: 97,234,070 (GRCm39) |
V114A |
probably damaging |
Het |
Fbn2 |
G |
A |
18: 58,333,682 (GRCm39) |
P178S |
possibly damaging |
Het |
Fcrl2 |
A |
C |
3: 87,169,484 (GRCm39) |
|
probably null |
Het |
Grm1 |
G |
T |
10: 10,565,142 (GRCm39) |
H1055Q |
probably benign |
Het |
Mcm6 |
T |
C |
1: 128,276,789 (GRCm39) |
N267S |
probably benign |
Het |
Or5an1c |
T |
C |
19: 12,218,866 (GRCm39) |
D53G |
probably damaging |
Het |
Phc3 |
T |
C |
3: 30,984,018 (GRCm39) |
I699V |
probably damaging |
Het |
Prl2c2 |
G |
C |
13: 13,176,786 (GRCm39) |
T47R |
probably damaging |
Het |
R3hdm1 |
G |
A |
1: 128,159,142 (GRCm39) |
R939H |
probably benign |
Het |
Rag1 |
A |
T |
2: 101,473,537 (GRCm39) |
I535N |
probably damaging |
Het |
Rhot1 |
T |
C |
11: 80,136,847 (GRCm39) |
C310R |
probably damaging |
Het |
Tnrc6a |
G |
A |
7: 122,783,474 (GRCm39) |
V1481M |
probably benign |
Het |
Vmn1r234 |
A |
T |
17: 21,449,172 (GRCm39) |
M29L |
probably benign |
Het |
Vmn2r68 |
A |
G |
7: 84,881,700 (GRCm39) |
I460T |
probably damaging |
Het |
Zfhx3 |
T |
A |
8: 109,660,465 (GRCm39) |
Y1240N |
probably 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 |
R0552:Pyroxd1
|
UTSW |
6 |
142,291,463 (GRCm39) |
missense |
probably benign |
0.06 |
R1073:Pyroxd1
|
UTSW |
6 |
142,294,370 (GRCm39) |
critical splice donor site |
probably null |
|
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'- AAAGTCACGCTCTGACCTTGTCATC -3'
(R):5'- CTGAGCCTGCAACTCCTTTAGTCTG -3'
Sequencing Primer
(F):5'- CCTTATACTAATGAAAAGCTGCTCAG -3'
(R):5'- TCAGTCTACTGTAATACTGTGTGAC -3'
|
Posted On |
2014-02-18 |