Incidental Mutation 'R9555:Pyroxd1'
| ID |
720708 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pyroxd1
|
| Ensembl Gene |
ENSMUSG00000041671 |
| Gene Name |
pyridine nucleotide-disulphide oxidoreductase domain 1 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9555 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
142291381-142307881 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 142300421 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 184
(A184T)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000041852
AA Change: A184T
PolyPhen 2
Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000036394
Gene: ENSMUSG00000041671
AA Change: A184T
| 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: 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: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930453N24Rik |
A |
G |
16: 64,586,947 (GRCm39) |
V259A |
probably benign |
Het |
| Abcd4 |
T |
C |
12: 84,661,949 (GRCm39) |
I63V |
probably benign |
Het |
| Agps |
C |
A |
2: 75,683,091 (GRCm39) |
P139T |
probably damaging |
Het |
| B130006D01Rik |
A |
T |
11: 95,616,956 (GRCm39) |
H27L |
unknown |
Het |
| BC024139 |
A |
G |
15: 76,005,359 (GRCm39) |
V501A |
possibly damaging |
Het |
| Cacul1 |
A |
T |
19: 60,533,887 (GRCm39) |
Y238* |
probably null |
Het |
| Cep55 |
T |
C |
19: 38,059,592 (GRCm39) |
|
probably null |
Het |
| Csf1r |
T |
A |
18: 61,243,473 (GRCm39) |
I163N |
possibly damaging |
Het |
| Ddx3y |
G |
T |
Y: 1,265,895 (GRCm39) |
D367E |
probably benign |
Het |
| Ecpas |
T |
A |
4: 58,879,083 (GRCm39) |
I69L |
possibly damaging |
Het |
| Epb41l4a |
A |
G |
18: 34,009,966 (GRCm39) |
V213A |
possibly damaging |
Het |
| Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
| Klrb1a |
T |
C |
6: 128,595,427 (GRCm39) |
E142G |
probably damaging |
Het |
| Lamb3 |
A |
T |
1: 193,011,113 (GRCm39) |
I369F |
possibly damaging |
Het |
| Lig1 |
T |
C |
7: 13,025,400 (GRCm39) |
V254A |
probably benign |
Het |
| Lrp1b |
T |
A |
2: 40,741,693 (GRCm39) |
D3192V |
|
Het |
| Lrp1b |
T |
C |
2: 40,748,438 (GRCm39) |
D3134G |
|
Het |
| Map1s |
T |
A |
8: 71,367,236 (GRCm39) |
S714T |
probably benign |
Het |
| Marchf2 |
A |
G |
17: 33,922,129 (GRCm39) |
L77P |
probably damaging |
Het |
| Nek8 |
A |
G |
11: 78,067,390 (GRCm39) |
F15L |
probably benign |
Het |
| Or1s2 |
T |
A |
19: 13,758,360 (GRCm39) |
I126N |
probably damaging |
Het |
| Pdzrn4 |
C |
T |
15: 92,297,703 (GRCm39) |
R223C |
probably damaging |
Het |
| Per1 |
T |
A |
11: 68,995,574 (GRCm39) |
V718D |
probably benign |
Het |
| Pik3ca |
A |
G |
3: 32,505,916 (GRCm39) |
H676R |
probably damaging |
Het |
| Pla2g4e |
C |
A |
2: 120,075,400 (GRCm39) |
|
probably benign |
Het |
| Proser1 |
A |
T |
3: 53,378,876 (GRCm39) |
I103F |
possibly damaging |
Het |
| Rin2 |
C |
T |
2: 145,718,415 (GRCm39) |
Q632* |
probably null |
Het |
| Serpinb12 |
C |
T |
1: 106,884,345 (GRCm39) |
H364Y |
probably damaging |
Het |
| Sfxn3 |
G |
A |
19: 45,038,211 (GRCm39) |
E64K |
probably benign |
Het |
| Slc38a1 |
C |
T |
15: 96,486,860 (GRCm39) |
V199M |
possibly damaging |
Het |
| Tep1 |
A |
G |
14: 51,105,888 (GRCm39) |
I44T |
possibly damaging |
Het |
| Trip13 |
T |
A |
13: 74,084,252 (GRCm39) |
T78S |
probably benign |
Het |
| Trmt11 |
T |
C |
10: 30,470,150 (GRCm39) |
D58G |
possibly damaging |
Het |
| Usp28 |
A |
T |
9: 48,952,736 (GRCm39) |
I1015F |
probably damaging |
Het |
| Vcan |
T |
C |
13: 89,839,659 (GRCm39) |
T1962A |
|
Het |
| Vmn2r100 |
T |
A |
17: 19,743,857 (GRCm39) |
S507T |
probably benign |
Het |
| Vmn2r91 |
C |
T |
17: 18,325,792 (GRCm39) |
P137S |
possibly damaging |
Het |
| Zfp84 |
G |
T |
7: 29,476,102 (GRCm39) |
V265F |
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 |
|
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 |
|
|
|
V1662:Pyroxd1
|
UTSW |
6 |
142,304,169 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTGGACCAGCCTGCTTTAG -3'
(R):5'- AATAAATACTCACATTCCTGCCTCCTG -3'
Sequencing Primer
(F):5'- AGTGGACCAGCCTGCTTTAGTATTC -3'
(R):5'- ACATTCCTGCCTCCTGAATAC -3'
|
| Posted On |
2022-08-09 |
Incidental Mutation