Incidental Mutation 'R0559:Ptx4'
ID |
45809 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ptx4
|
Ensembl Gene |
ENSMUSG00000044172 |
Gene Name |
pentraxin 4 |
Synonyms |
1110018H23Rik |
MMRRC Submission |
038751-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.085)
|
Stock # |
R0559 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
25339734-25344266 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to T
at 25342082 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Stop codon
at position 186
(Q186*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000055984
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054930]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably null
Transcript: ENSMUST00000054930
AA Change: Q186*
|
SMART Domains |
Protein: ENSMUSP00000055984 Gene: ENSMUSG00000044172 AA Change: Q186*
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
Blast:HOX
|
32 |
122 |
3e-35 |
BLAST |
coiled coil region
|
147 |
182 |
N/A |
INTRINSIC |
Pfam:Pentaxin
|
271 |
460 |
7.3e-33 |
PFAM |
Pfam:Laminin_G_3
|
277 |
440 |
2.4e-14 |
PFAM |
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.5%
|
Validation Efficiency |
97% (34/35) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the pentraxin superfamily, whose members encode highly conserved multifunctional proteins. The encoded protein, like other members of this family, contains a conserved pentraxin domain at the C-terminus. The highest levels of expression of the protein were observed in bone marrow, small intestine and testes. [provided by RefSeq, Jun 2016]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb1a |
A |
T |
5: 8,748,535 (GRCm39) |
I289F |
probably benign |
Het |
Adam15 |
G |
A |
3: 89,251,085 (GRCm39) |
A540V |
probably damaging |
Het |
Adat1 |
T |
C |
8: 112,709,062 (GRCm39) |
T254A |
probably damaging |
Het |
Agtpbp1 |
A |
G |
13: 59,644,814 (GRCm39) |
V684A |
probably benign |
Het |
Ahi1 |
A |
G |
10: 20,876,618 (GRCm39) |
|
probably benign |
Het |
Arl5b |
T |
C |
2: 15,077,998 (GRCm39) |
Y108H |
probably damaging |
Het |
Cep85l |
A |
G |
10: 53,224,597 (GRCm39) |
F331L |
probably benign |
Het |
Ctnna2 |
T |
C |
6: 76,892,833 (GRCm39) |
K785E |
probably damaging |
Het |
Dgkd |
T |
A |
1: 87,842,826 (GRCm39) |
I118N |
probably damaging |
Het |
Dicer1 |
G |
A |
12: 104,672,560 (GRCm39) |
R896W |
probably damaging |
Het |
Eif1ad19 |
T |
A |
12: 87,740,223 (GRCm39) |
H112L |
probably benign |
Het |
Fbxl19 |
G |
T |
7: 127,349,390 (GRCm39) |
W160L |
possibly damaging |
Het |
H1f8 |
T |
C |
6: 115,924,760 (GRCm39) |
Y89H |
probably damaging |
Het |
Ipo5 |
T |
C |
14: 121,176,053 (GRCm39) |
V626A |
probably damaging |
Het |
Isx |
A |
G |
8: 75,600,369 (GRCm39) |
K34R |
probably benign |
Het |
Myh6 |
T |
C |
14: 55,196,011 (GRCm39) |
E596G |
probably benign |
Het |
Olfml2a |
T |
C |
2: 38,849,832 (GRCm39) |
I516T |
probably damaging |
Het |
Or14j5 |
C |
T |
17: 38,161,746 (GRCm39) |
R88* |
probably null |
Het |
Or5w12 |
T |
G |
2: 87,502,244 (GRCm39) |
T156P |
possibly damaging |
Het |
Or8b37 |
G |
T |
9: 37,959,123 (GRCm39) |
V202L |
probably benign |
Het |
Parp9 |
T |
C |
16: 35,768,362 (GRCm39) |
F181L |
probably benign |
Het |
Pkdcc |
G |
A |
17: 83,523,454 (GRCm39) |
G187D |
probably benign |
Het |
Plekhh3 |
C |
T |
11: 101,055,592 (GRCm39) |
E483K |
possibly damaging |
Het |
Qsox2 |
T |
A |
2: 26,104,169 (GRCm39) |
H287L |
probably benign |
Het |
Rev3l |
G |
A |
10: 39,700,483 (GRCm39) |
G1660D |
probably damaging |
Het |
Scamp1 |
G |
T |
13: 94,344,690 (GRCm39) |
A217E |
possibly damaging |
Het |
Slc5a9 |
T |
C |
4: 111,742,779 (GRCm39) |
I438V |
probably benign |
Het |
Sort1 |
T |
C |
3: 108,263,895 (GRCm39) |
F818S |
probably damaging |
Het |
Srl |
G |
A |
16: 4,314,842 (GRCm39) |
P267S |
probably benign |
Het |
Tbc1d1 |
T |
C |
5: 64,331,136 (GRCm39) |
I105T |
probably damaging |
Het |
Tifab |
A |
G |
13: 56,324,060 (GRCm39) |
Y128H |
probably benign |
Het |
Trp53bp1 |
A |
T |
2: 121,058,282 (GRCm39) |
S907T |
probably damaging |
Het |
Ubr1 |
G |
A |
2: 120,778,364 (GRCm39) |
R225* |
probably null |
Het |
Upk3bl |
A |
G |
5: 136,086,330 (GRCm39) |
T89A |
probably benign |
Het |
Vars1 |
T |
A |
17: 35,233,034 (GRCm39) |
C916* |
probably null |
Het |
Ywhaz |
T |
C |
15: 36,791,208 (GRCm39) |
E5G |
possibly damaging |
Het |
Zfp91 |
T |
C |
19: 12,747,419 (GRCm39) |
D568G |
probably damaging |
Het |
Zgpat |
T |
C |
2: 181,021,985 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Ptx4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL03027:Ptx4
|
APN |
17 |
25,344,022 (GRCm39) |
missense |
possibly damaging |
0.81 |
IGL03373:Ptx4
|
APN |
17 |
25,339,873 (GRCm39) |
missense |
probably benign |
0.02 |
IGL03394:Ptx4
|
APN |
17 |
25,343,649 (GRCm39) |
missense |
probably damaging |
1.00 |
R3765:Ptx4
|
UTSW |
17 |
25,341,842 (GRCm39) |
missense |
probably benign |
0.02 |
R4629:Ptx4
|
UTSW |
17 |
25,341,737 (GRCm39) |
missense |
probably damaging |
1.00 |
R4677:Ptx4
|
UTSW |
17 |
25,342,100 (GRCm39) |
missense |
probably benign |
0.05 |
R4938:Ptx4
|
UTSW |
17 |
25,342,139 (GRCm39) |
nonsense |
probably null |
|
R5170:Ptx4
|
UTSW |
17 |
25,342,152 (GRCm39) |
missense |
probably benign |
0.01 |
R5517:Ptx4
|
UTSW |
17 |
25,343,760 (GRCm39) |
missense |
possibly damaging |
0.58 |
R6614:Ptx4
|
UTSW |
17 |
25,341,676 (GRCm39) |
missense |
possibly damaging |
0.70 |
R6993:Ptx4
|
UTSW |
17 |
25,343,898 (GRCm39) |
missense |
possibly damaging |
0.70 |
R7070:Ptx4
|
UTSW |
17 |
25,341,971 (GRCm39) |
missense |
probably benign |
0.04 |
R7230:Ptx4
|
UTSW |
17 |
25,342,077 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7501:Ptx4
|
UTSW |
17 |
25,344,166 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7845:Ptx4
|
UTSW |
17 |
25,343,928 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8069:Ptx4
|
UTSW |
17 |
25,341,753 (GRCm39) |
missense |
probably damaging |
1.00 |
R8244:Ptx4
|
UTSW |
17 |
25,341,839 (GRCm39) |
missense |
possibly damaging |
0.87 |
R8370:Ptx4
|
UTSW |
17 |
25,342,314 (GRCm39) |
missense |
possibly damaging |
0.90 |
R8388:Ptx4
|
UTSW |
17 |
25,339,897 (GRCm39) |
missense |
probably damaging |
0.99 |
R8798:Ptx4
|
UTSW |
17 |
25,343,716 (GRCm39) |
missense |
probably damaging |
1.00 |
R9140:Ptx4
|
UTSW |
17 |
25,344,180 (GRCm39) |
missense |
probably damaging |
1.00 |
R9166:Ptx4
|
UTSW |
17 |
25,343,546 (GRCm39) |
critical splice acceptor site |
probably null |
|
R9190:Ptx4
|
UTSW |
17 |
25,342,257 (GRCm39) |
missense |
possibly damaging |
0.90 |
R9225:Ptx4
|
UTSW |
17 |
25,341,696 (GRCm39) |
missense |
probably benign |
0.38 |
R9285:Ptx4
|
UTSW |
17 |
25,343,930 (GRCm39) |
nonsense |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- GCGATGAATCAGTCTCAAGCTGCC -3'
(R):5'- TGCATCTCCTGAACGTGGACAGTG -3'
Sequencing Primer
(F):5'- TGGCCCATTTAAAGACCTGG -3'
(R):5'- TTGGGGTGAAGACTTGGCTAC -3'
|
Posted On |
2013-06-11 |