Incidental Mutation 'R1334:Enpp4'
ID |
156826 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Enpp4
|
Ensembl Gene |
ENSMUSG00000023961 |
Gene Name |
ectonucleotide pyrophosphatase/phosphodiesterase 4 |
Synonyms |
LOC224794, 4933413N07Rik |
MMRRC Submission |
039399-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.218)
|
Stock # |
R1334 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
44407199-44416700 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 44413259 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Leucine
at position 92
(V92L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000114429
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024757]
[ENSMUST00000143137]
|
AlphaFold |
Q8BTJ4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000024757
AA Change: V92L
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000024757 Gene: ENSMUSG00000023961 AA Change: V92L
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
Pfam:Phosphodiest
|
31 |
342 |
9e-85 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000143137
AA Change: V92L
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000114429 Gene: ENSMUSG00000023961 AA Change: V92L
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
Pfam:Phosphodiest
|
31 |
342 |
5.7e-80 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Amph |
G |
A |
13: 19,326,198 (GRCm39) |
V643M |
probably damaging |
Het |
Bnc2 |
T |
C |
4: 84,194,526 (GRCm39) |
E933G |
possibly damaging |
Het |
Ccdc69 |
A |
T |
11: 54,943,805 (GRCm39) |
H75Q |
probably damaging |
Het |
Ccdc81 |
C |
T |
7: 89,515,769 (GRCm39) |
E637K |
probably benign |
Het |
Cpa3 |
T |
C |
3: 20,276,387 (GRCm39) |
E282G |
probably damaging |
Het |
Cpxm1 |
G |
A |
2: 130,235,483 (GRCm39) |
P503L |
probably damaging |
Het |
Dnaaf9 |
C |
T |
2: 130,617,642 (GRCm39) |
|
probably null |
Het |
Dnah7b |
T |
C |
1: 46,361,495 (GRCm39) |
F3465S |
probably damaging |
Het |
Dnaja3 |
T |
C |
16: 4,517,658 (GRCm39) |
S297P |
probably damaging |
Het |
Fndc3b |
A |
T |
3: 27,513,000 (GRCm39) |
Y709N |
probably damaging |
Het |
H2-Eb2 |
T |
G |
17: 34,553,324 (GRCm39) |
V170G |
probably damaging |
Het |
Hmcn1 |
C |
T |
1: 150,462,219 (GRCm39) |
G5153D |
possibly damaging |
Het |
Ldah |
T |
C |
12: 8,334,089 (GRCm39) |
|
probably null |
Het |
Micu1 |
T |
C |
10: 59,624,798 (GRCm39) |
L280P |
probably damaging |
Het |
Mon1a |
A |
C |
9: 107,778,562 (GRCm39) |
N262T |
probably damaging |
Het |
Nim1k |
A |
G |
13: 120,174,024 (GRCm39) |
I290T |
probably benign |
Het |
Or1q1 |
A |
T |
2: 36,886,872 (GRCm39) |
I17F |
probably benign |
Het |
Or2a57 |
A |
G |
6: 43,212,899 (GRCm39) |
Y119C |
probably benign |
Het |
Or5aq6 |
T |
C |
2: 86,923,571 (GRCm39) |
T57A |
probably damaging |
Het |
Pcdhb12 |
C |
T |
18: 37,569,724 (GRCm39) |
T290I |
probably damaging |
Het |
Pkhd1 |
T |
G |
1: 20,604,129 (GRCm39) |
D1187A |
possibly damaging |
Het |
Primpol |
T |
C |
8: 47,039,426 (GRCm39) |
Y398C |
probably damaging |
Het |
Prob1 |
T |
C |
18: 35,786,305 (GRCm39) |
T650A |
possibly damaging |
Het |
Rasl12 |
G |
A |
9: 65,318,151 (GRCm39) |
V172M |
probably damaging |
Het |
Rgs5 |
G |
A |
1: 169,510,386 (GRCm39) |
|
probably null |
Het |
St14 |
T |
C |
9: 31,019,506 (GRCm39) |
Y105C |
probably damaging |
Het |
Stard9 |
C |
A |
2: 120,504,117 (GRCm39) |
S221R |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,575,387 (GRCm39) |
T16842A |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,643,316 (GRCm39) |
E13201G |
probably damaging |
Het |
Vwa5a |
C |
A |
9: 38,646,037 (GRCm39) |
N468K |
probably benign |
Het |
|
Other mutations in Enpp4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01536:Enpp4
|
APN |
17 |
44,410,494 (GRCm39) |
missense |
possibly damaging |
0.56 |
IGL02150:Enpp4
|
APN |
17 |
44,413,049 (GRCm39) |
missense |
probably benign |
0.22 |
IGL02451:Enpp4
|
APN |
17 |
44,412,315 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02879:Enpp4
|
APN |
17 |
44,412,841 (GRCm39) |
missense |
probably benign |
0.00 |
R0005:Enpp4
|
UTSW |
17 |
44,413,066 (GRCm39) |
missense |
probably benign |
0.04 |
R0540:Enpp4
|
UTSW |
17 |
44,410,386 (GRCm39) |
missense |
probably damaging |
1.00 |
R0607:Enpp4
|
UTSW |
17 |
44,410,386 (GRCm39) |
missense |
probably damaging |
1.00 |
R0942:Enpp4
|
UTSW |
17 |
44,412,772 (GRCm39) |
nonsense |
probably null |
|
R1632:Enpp4
|
UTSW |
17 |
44,410,544 (GRCm39) |
missense |
probably damaging |
0.99 |
R2567:Enpp4
|
UTSW |
17 |
44,412,736 (GRCm39) |
missense |
probably damaging |
0.97 |
R4272:Enpp4
|
UTSW |
17 |
44,412,698 (GRCm39) |
missense |
probably benign |
0.01 |
R4273:Enpp4
|
UTSW |
17 |
44,412,698 (GRCm39) |
missense |
probably benign |
0.01 |
R4750:Enpp4
|
UTSW |
17 |
44,413,246 (GRCm39) |
missense |
probably damaging |
1.00 |
R6267:Enpp4
|
UTSW |
17 |
44,413,371 (GRCm39) |
missense |
probably benign |
0.00 |
R6296:Enpp4
|
UTSW |
17 |
44,413,371 (GRCm39) |
missense |
probably benign |
0.00 |
R7180:Enpp4
|
UTSW |
17 |
44,412,928 (GRCm39) |
missense |
probably benign |
0.03 |
R8036:Enpp4
|
UTSW |
17 |
44,413,136 (GRCm39) |
missense |
possibly damaging |
0.81 |
R8135:Enpp4
|
UTSW |
17 |
44,412,226 (GRCm39) |
missense |
probably benign |
0.00 |
R9168:Enpp4
|
UTSW |
17 |
44,413,141 (GRCm39) |
missense |
probably damaging |
0.99 |
R9209:Enpp4
|
UTSW |
17 |
44,412,252 (GRCm39) |
nonsense |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- CCCAGTCTTTCCTTAAAGGACACGG -3'
(R):5'- GATAGCTCAGCACCTCGGTTACTTC -3'
Sequencing Primer
(F):5'- TTTCCTTAAAGGACACGGAGCTG -3'
(R):5'- ACTTCTGGTATCCTTTGACGG -3'
|
Posted On |
2014-02-11 |