Incidental Mutation 'R4641:Pyroxd1'
| ID |
351640 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pyroxd1
|
| Ensembl Gene |
ENSMUSG00000041671 |
| Gene Name |
pyridine nucleotide-disulphide oxidoreductase domain 1 |
| Synonyms |
|
| MMRRC Submission |
041903-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4641 (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: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca7 |
G |
A |
10: 79,841,615 (GRCm39) |
|
probably null |
Het |
| Adamts16 |
G |
A |
13: 70,927,637 (GRCm39) |
|
probably benign |
Het |
| Dsg3 |
T |
A |
18: 20,653,615 (GRCm39) |
F54I |
probably benign |
Het |
| Ehbp1 |
G |
A |
11: 22,045,892 (GRCm39) |
S619L |
probably benign |
Het |
| Eif1ad3 |
A |
G |
12: 87,843,446 (GRCm39) |
Y31C |
probably damaging |
Het |
| Eif1ad5 |
A |
G |
12: 87,946,852 (GRCm39) |
D98G |
probably benign |
Het |
| Erlec1 |
G |
A |
11: 30,898,442 (GRCm39) |
Q10* |
probably null |
Het |
| Fbxw14 |
A |
G |
9: 109,107,750 (GRCm39) |
|
probably null |
Het |
| Fhod1 |
C |
T |
8: 106,056,224 (GRCm39) |
R1163H |
probably damaging |
Het |
| Gas2l3 |
CACTCGTCATACT |
CACT |
10: 89,266,820 (GRCm39) |
|
probably benign |
Het |
| Gm4846 |
G |
A |
1: 166,311,462 (GRCm39) |
P466S |
probably damaging |
Het |
| Ift122 |
A |
T |
6: 115,865,726 (GRCm39) |
K339* |
probably null |
Het |
| Il6st |
T |
C |
13: 112,625,064 (GRCm39) |
S227P |
probably damaging |
Het |
| Letmd1 |
A |
G |
15: 100,375,708 (GRCm39) |
Y198C |
probably damaging |
Het |
| Map3k4 |
A |
T |
17: 12,482,932 (GRCm39) |
L595Q |
probably damaging |
Het |
| Mdc1 |
C |
G |
17: 36,168,361 (GRCm39) |
R1656G |
probably benign |
Het |
| Megf11 |
C |
T |
9: 64,597,407 (GRCm39) |
S662L |
possibly damaging |
Het |
| Mrps25 |
T |
C |
6: 92,160,881 (GRCm39) |
E25G |
probably benign |
Het |
| Myh2 |
G |
T |
11: 67,085,520 (GRCm39) |
G1815C |
probably damaging |
Het |
| Myo15a |
A |
G |
11: 60,393,867 (GRCm39) |
D2353G |
probably damaging |
Het |
| Naip5 |
T |
A |
13: 100,356,338 (GRCm39) |
E1092D |
probably benign |
Het |
| P2rx5 |
A |
T |
11: 73,058,390 (GRCm39) |
H275L |
possibly damaging |
Het |
| Rnf123 |
T |
C |
9: 107,935,786 (GRCm39) |
D920G |
probably damaging |
Het |
| Slc44a2 |
A |
G |
9: 21,258,178 (GRCm39) |
Y474C |
probably damaging |
Het |
| Slc9a4 |
T |
A |
1: 40,646,285 (GRCm39) |
F439I |
probably damaging |
Het |
| Snap91 |
A |
G |
9: 86,761,528 (GRCm39) |
V26A |
probably damaging |
Het |
| Spata31d1c |
C |
A |
13: 65,182,862 (GRCm39) |
Q135K |
probably benign |
Het |
| Stard8 |
AGAGGAGGAGGAGGAGGAGGA |
AGAGGAGGAGGAGGAGGA |
X: 98,110,114 (GRCm39) |
|
probably benign |
Het |
| Tlk2 |
T |
C |
11: 105,166,809 (GRCm39) |
I669T |
probably benign |
Het |
| Tmem273 |
A |
G |
14: 32,528,839 (GRCm39) |
D68G |
probably damaging |
Het |
| Ttc38 |
T |
C |
15: 85,728,659 (GRCm39) |
S204P |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,617,155 (GRCm39) |
Y16403F |
probably damaging |
Het |
| Ttyh2 |
G |
T |
11: 114,592,609 (GRCm39) |
W213L |
probably damaging |
Het |
| Ugt2a2 |
A |
T |
5: 87,610,755 (GRCm39) |
D360E |
probably damaging |
Het |
| Vwa5b2 |
A |
T |
16: 20,423,393 (GRCm39) |
H1102L |
probably damaging |
Het |
| Zbtb41 |
A |
T |
1: 139,370,557 (GRCm39) |
T665S |
probably damaging |
Het |
| Zfp292 |
T |
C |
4: 34,807,828 (GRCm39) |
I1739V |
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 |
|
|
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'- GCCCCTAAAGTGAGCTCCAC -3'
(R):5'- GCCCTATGTATTTTCTAATCTGAACA -3'
Sequencing Primer
(F):5'- GCACATAGCAGGCGTTCAG -3'
(R):5'- ACATTCCTGCCTCCTGAAT -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation