Incidental Mutation 'R4638:Pyroxd1'
ID |
350793 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pyroxd1
|
Ensembl Gene |
ENSMUSG00000041671 |
Gene Name |
pyridine nucleotide-disulphide oxidoreductase domain 1 |
Synonyms |
|
MMRRC Submission |
041900-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4638 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
142291381-142307881 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to G
at 142300467 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Stop codon
at position 199
(S199*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000036394
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032370]
[ENSMUST00000041852]
[ENSMUST00000100832]
|
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 null
Transcript: ENSMUST00000041852
AA Change: S199*
|
SMART Domains |
Protein: ENSMUSP00000036394 Gene: ENSMUSG00000041671 AA Change: S199*
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 |
noncoding transcript
Transcript: ENSMUST00000123289
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137098
|
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153912
|
Meta Mutation Damage Score |
0.9712 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
Validation Efficiency |
91% (40/44) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcg8 |
A |
G |
17: 84,999,369 (GRCm39) |
D155G |
probably damaging |
Het |
Ano4 |
C |
T |
10: 88,790,559 (GRCm39) |
A847T |
probably damaging |
Het |
B4galt7 |
T |
C |
13: 55,747,959 (GRCm39) |
|
probably benign |
Het |
Camk1g |
T |
A |
1: 193,038,667 (GRCm39) |
D85V |
probably damaging |
Het |
Caskin1 |
G |
A |
17: 24,725,602 (GRCm39) |
S1296N |
probably benign |
Het |
Cebpa |
A |
G |
7: 34,819,687 (GRCm39) |
N282D |
probably damaging |
Het |
Cngb1 |
G |
A |
8: 95,992,647 (GRCm39) |
T196M |
probably damaging |
Het |
Cobll1 |
T |
C |
2: 64,929,581 (GRCm39) |
M619V |
probably benign |
Het |
Coro7 |
A |
T |
16: 4,450,151 (GRCm39) |
I566N |
probably damaging |
Het |
Dpyd |
A |
T |
3: 119,059,726 (GRCm39) |
S808C |
probably benign |
Het |
Fbn2 |
A |
G |
18: 58,143,376 (GRCm39) |
V2893A |
probably benign |
Het |
Gm10801 |
G |
C |
2: 98,494,352 (GRCm39) |
R143T |
possibly damaging |
Het |
Krba1 |
T |
A |
6: 48,386,685 (GRCm39) |
L441* |
probably null |
Het |
Lama5 |
T |
C |
2: 179,832,206 (GRCm39) |
T1712A |
possibly damaging |
Het |
Lnpep |
G |
A |
17: 17,795,569 (GRCm39) |
T314I |
probably damaging |
Het |
Lyst |
T |
C |
13: 13,871,379 (GRCm39) |
|
probably null |
Het |
Naa16 |
C |
A |
14: 79,577,473 (GRCm39) |
|
probably null |
Het |
Nek7 |
A |
T |
1: 138,472,038 (GRCm39) |
F34Y |
probably benign |
Het |
Or12e7 |
T |
C |
2: 87,288,327 (GRCm39) |
S273P |
possibly damaging |
Het |
Or2ag17 |
A |
T |
7: 106,390,205 (GRCm39) |
M1K |
probably null |
Het |
Park7 |
G |
A |
4: 150,991,556 (GRCm39) |
Q45* |
probably null |
Het |
Pclo |
C |
A |
5: 14,730,447 (GRCm39) |
S2983* |
probably null |
Het |
Pth1r |
A |
G |
9: 110,556,141 (GRCm39) |
L244P |
possibly damaging |
Het |
Slc11a1 |
G |
A |
1: 74,414,437 (GRCm39) |
|
probably benign |
Het |
Slc12a8 |
T |
G |
16: 33,410,693 (GRCm39) |
S200A |
possibly damaging |
Het |
Slc7a10 |
A |
G |
7: 34,897,355 (GRCm39) |
E262G |
probably damaging |
Het |
Smg1 |
T |
C |
7: 117,795,149 (GRCm39) |
|
probably benign |
Het |
Snapc4 |
A |
G |
2: 26,255,314 (GRCm39) |
L1070P |
probably damaging |
Het |
Sp2 |
A |
G |
11: 96,848,300 (GRCm39) |
I435T |
possibly damaging |
Het |
Srp72 |
A |
G |
5: 77,138,142 (GRCm39) |
E309G |
probably benign |
Het |
Sympk |
G |
T |
7: 18,777,385 (GRCm39) |
R545L |
possibly damaging |
Het |
Tie1 |
C |
T |
4: 118,341,039 (GRCm39) |
R314H |
probably benign |
Het |
Tmem198 |
G |
T |
1: 75,456,351 (GRCm39) |
G2* |
probably null |
Het |
Tmem81 |
A |
G |
1: 132,435,943 (GRCm39) |
|
probably benign |
Het |
Ttn |
A |
T |
2: 76,652,821 (GRCm39) |
V10938E |
possibly damaging |
Het |
Zfp773 |
T |
A |
7: 7,138,335 (GRCm39) |
Y100F |
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 |
|
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 |
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'- CTCTGTGCAGTCCGCGTC -3'
(R):5'- GCCCTATGTATTTTCTAATCTGAACAT -3'
Sequencing Primer
(F):5'- GCACATAGCAGGCGTTCAG -3'
(R):5'- CATTCCTGCCTCCTGAATA -3'
|
Posted On |
2015-10-08 |