Incidental Mutation 'R4643:Pyroxd1'
| ID |
351731 |
| 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 # |
R4643 (G1)
|
| Quality Score |
225 |
|
Status
|
Not 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: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4833420G17Rik |
A |
G |
13: 119,611,396 (GRCm39) |
N398D |
probably damaging |
Het |
| Adamtsl4 |
G |
A |
3: 95,591,929 (GRCm39) |
A58V |
possibly damaging |
Het |
| Anapc2 |
T |
A |
2: 25,166,406 (GRCm39) |
V105E |
probably benign |
Het |
| C3ar1 |
A |
T |
6: 122,827,933 (GRCm39) |
C95S |
probably damaging |
Het |
| Ccdc87 |
G |
A |
19: 4,891,877 (GRCm39) |
G790R |
probably damaging |
Het |
| Cenpf |
A |
T |
1: 189,391,786 (GRCm39) |
M682K |
probably benign |
Het |
| Cyp2j13 |
T |
C |
4: 95,945,161 (GRCm39) |
Q289R |
possibly damaging |
Het |
| Dclk2 |
A |
T |
3: 86,713,487 (GRCm39) |
M453K |
possibly damaging |
Het |
| Dscam |
G |
A |
16: 96,486,501 (GRCm39) |
T1058M |
probably damaging |
Het |
| Gas2l3 |
CACTCGTCATACT |
CACT |
10: 89,266,820 (GRCm39) |
|
probably benign |
Het |
| Grip1 |
A |
G |
10: 119,856,006 (GRCm39) |
N659S |
probably damaging |
Het |
| Hectd4 |
A |
G |
5: 121,487,118 (GRCm39) |
K3371R |
possibly damaging |
Het |
| Il1a |
T |
A |
2: 129,146,623 (GRCm39) |
T157S |
probably benign |
Het |
| Il23r |
A |
G |
6: 67,400,977 (GRCm39) |
V451A |
probably benign |
Het |
| Iqch |
T |
C |
9: 63,502,084 (GRCm39) |
T40A |
probably benign |
Het |
| Irag2 |
A |
T |
6: 145,113,786 (GRCm39) |
D318V |
probably benign |
Het |
| Kazald1 |
G |
T |
19: 45,066,788 (GRCm39) |
V196L |
probably benign |
Het |
| L1td1 |
T |
C |
4: 98,626,120 (GRCm39) |
S772P |
probably damaging |
Het |
| Lgi1 |
A |
T |
19: 38,289,158 (GRCm39) |
D145V |
probably damaging |
Het |
| Lrp12 |
A |
T |
15: 39,735,418 (GRCm39) |
L838Q |
probably damaging |
Het |
| Mrgprf |
C |
A |
7: 144,862,242 (GRCm39) |
P268Q |
probably benign |
Het |
| Myef2 |
T |
C |
2: 124,958,731 (GRCm39) |
K66R |
possibly damaging |
Het |
| Myo3b |
A |
G |
2: 70,069,186 (GRCm39) |
D475G |
possibly damaging |
Het |
| Numa1 |
C |
G |
7: 101,649,872 (GRCm39) |
|
probably null |
Het |
| Or6c214 |
T |
C |
10: 129,590,824 (GRCm39) |
E165G |
probably damaging |
Het |
| Prdm8 |
T |
C |
5: 98,332,446 (GRCm39) |
S116P |
possibly damaging |
Het |
| R3hcc1l |
G |
T |
19: 42,551,239 (GRCm39) |
V79F |
probably benign |
Het |
| Rasal1 |
C |
T |
5: 120,817,029 (GRCm39) |
T779I |
probably benign |
Het |
| Scaper |
A |
C |
9: 55,745,463 (GRCm39) |
F596V |
probably damaging |
Het |
| Slco2b1 |
C |
T |
7: 99,316,214 (GRCm39) |
V439M |
probably benign |
Het |
| Slco6c1 |
A |
T |
1: 96,990,149 (GRCm39) |
D680E |
probably benign |
Het |
| Smurf1 |
A |
T |
5: 144,816,179 (GRCm39) |
F725L |
probably damaging |
Het |
| Snd1 |
A |
G |
6: 28,880,248 (GRCm39) |
E674G |
probably benign |
Het |
| Srcap |
C |
T |
7: 127,140,948 (GRCm39) |
P1515L |
probably damaging |
Het |
| Sycp2l |
A |
G |
13: 41,296,941 (GRCm39) |
M341V |
probably benign |
Het |
| Tmprss6 |
T |
A |
15: 78,329,556 (GRCm39) |
I492F |
probably damaging |
Het |
| Trip10 |
G |
T |
17: 57,568,658 (GRCm39) |
E416* |
probably null |
Het |
| Tstd2 |
T |
C |
4: 46,129,297 (GRCm39) |
D177G |
possibly damaging |
Het |
| Ugt1a5 |
A |
T |
1: 88,094,147 (GRCm39) |
N125I |
possibly damaging |
Het |
| Vmn2r7 |
G |
T |
3: 64,623,825 (GRCm39) |
S165Y |
probably damaging |
Het |
| Zfp663 |
A |
T |
2: 165,194,925 (GRCm39) |
H431Q |
probably benign |
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 |
|
|
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'- CACTGCCCCTAAAGTGAGC -3'
(R):5'- AGCCCTATGTATTTTCTAATCTGAACA -3'
Sequencing Primer
(F):5'- GCACATAGCAGGCGTTCAG -3'
(R):5'- ACATTCCTGCCTCCTGAAT -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation