Incidental Mutation 'R2200:Pyroxd1'
ID |
238607 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pyroxd1
|
Ensembl Gene |
ENSMUSG00000041671 |
Gene Name |
pyridine nucleotide-disulphide oxidoreductase domain 1 |
Synonyms |
|
MMRRC Submission |
040202-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R2200 (G1)
|
Quality Score |
219 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
142291381-142307881 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 142304808 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Leucine
at position 345
(R345L)
|
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: R345L
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
SMART Domains |
Protein: ENSMUSP00000036394 Gene: ENSMUSG00000041671 AA Change: R345L
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: ENSMUST00000154870
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153912
|
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 |
|
Meta Mutation Damage Score |
0.0846 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acer1 |
T |
C |
17: 57,265,423 (GRCm39) |
I135M |
probably benign |
Het |
Ano7 |
A |
G |
1: 93,308,158 (GRCm39) |
E63G |
possibly damaging |
Het |
Asah1 |
A |
G |
8: 41,796,765 (GRCm39) |
|
probably null |
Het |
B3gat2 |
C |
T |
1: 23,801,873 (GRCm39) |
P53L |
probably benign |
Het |
Bmp8b |
A |
T |
4: 123,016,815 (GRCm39) |
M339L |
possibly damaging |
Het |
Bpifb9b |
C |
A |
2: 154,155,574 (GRCm39) |
Q358K |
probably benign |
Het |
Cbs |
T |
C |
17: 31,843,238 (GRCm39) |
D231G |
probably damaging |
Het |
Chd6 |
A |
G |
2: 160,825,673 (GRCm39) |
Y1144H |
probably damaging |
Het |
Clca3a2 |
T |
A |
3: 144,519,685 (GRCm39) |
I230L |
probably benign |
Het |
Clec2d |
A |
T |
6: 129,161,831 (GRCm39) |
T155S |
possibly damaging |
Het |
Cpxm1 |
G |
T |
2: 130,235,117 (GRCm39) |
F567L |
probably damaging |
Het |
Cyp4f16 |
G |
T |
17: 32,756,078 (GRCm39) |
A36S |
probably damaging |
Het |
Dnah17 |
T |
C |
11: 117,993,235 (GRCm39) |
|
probably benign |
Het |
Eml5 |
T |
C |
12: 98,791,676 (GRCm39) |
D1280G |
probably damaging |
Het |
Ergic1 |
C |
A |
17: 26,860,566 (GRCm39) |
A218D |
possibly damaging |
Het |
Eva1a |
A |
G |
6: 82,068,894 (GRCm39) |
R74G |
probably benign |
Het |
Fhip1a |
A |
G |
3: 85,637,628 (GRCm39) |
S224P |
probably damaging |
Het |
Fus |
T |
A |
7: 127,576,400 (GRCm39) |
N273K |
probably damaging |
Het |
Ipo13 |
A |
C |
4: 117,762,100 (GRCm39) |
|
probably null |
Het |
Itgb3 |
T |
A |
11: 104,531,812 (GRCm39) |
|
probably null |
Het |
Lrif1 |
T |
A |
3: 106,641,874 (GRCm39) |
S63R |
probably damaging |
Het |
Lrig3 |
A |
G |
10: 125,832,478 (GRCm39) |
|
probably null |
Het |
Lrp1b |
A |
T |
2: 41,174,177 (GRCm39) |
N1547K |
probably benign |
Het |
Mme |
A |
T |
3: 63,287,713 (GRCm39) |
N738I |
possibly damaging |
Het |
Morc2a |
A |
G |
11: 3,633,919 (GRCm39) |
N677S |
probably benign |
Het |
Mrpl35 |
A |
C |
6: 71,794,723 (GRCm39) |
L82V |
probably benign |
Het |
Mybpc1 |
A |
T |
10: 88,391,557 (GRCm39) |
N313K |
probably damaging |
Het |
Podn |
T |
C |
4: 107,879,787 (GRCm39) |
D66G |
probably damaging |
Het |
Ptpru |
A |
T |
4: 131,548,124 (GRCm39) |
N52K |
probably damaging |
Het |
Qser1 |
A |
G |
2: 104,619,358 (GRCm39) |
S485P |
probably damaging |
Het |
Rbm46 |
A |
T |
3: 82,771,351 (GRCm39) |
D421E |
probably benign |
Het |
Rgs10 |
T |
C |
7: 127,990,761 (GRCm39) |
E109G |
probably damaging |
Het |
Samd8 |
C |
T |
14: 21,825,388 (GRCm39) |
P178S |
probably benign |
Het |
Scaf11 |
T |
C |
15: 96,318,404 (GRCm39) |
K387E |
probably damaging |
Het |
Sccpdh |
G |
T |
1: 179,498,171 (GRCm39) |
V72F |
possibly damaging |
Het |
Sec22a |
A |
T |
16: 35,134,527 (GRCm39) |
V285E |
probably damaging |
Het |
Slc19a3 |
A |
G |
1: 83,000,664 (GRCm39) |
S118P |
probably damaging |
Het |
Sun1 |
C |
A |
5: 139,216,974 (GRCm39) |
R338S |
probably benign |
Het |
Taf1c |
A |
G |
8: 120,325,417 (GRCm39) |
F815S |
probably benign |
Het |
Zcchc14 |
A |
T |
8: 122,332,167 (GRCm39) |
|
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 |
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'- TGTTCAGTAGGAGTCTGGCC -3'
(R):5'- AAATTGGCTCCAGTGGCTTC -3'
Sequencing Primer
(F):5'- TAGGAGTCTGGCCAGGGG -3'
(R):5'- GGCTCCAGTGGCTTCAATTTAAAG -3'
|
Posted On |
2014-10-02 |