Incidental Mutation 'R4016:Purg'
| ID |
311944 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Purg
|
| Ensembl Gene |
ENSMUSG00000049184 |
| Gene Name |
purine-rich element binding protein G |
| Synonyms |
4930486B15Rik |
| MMRRC Submission |
040847-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.247)
|
| Stock # |
R4016 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
33876353-33907495 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 33877019 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Stop codon
at position 219
(L219*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000077205
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033990]
[ENSMUST00000033991]
[ENSMUST00000070340]
[ENSMUST00000078058]
|
| AlphaFold |
Q8R4E6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033990
|
| SMART Domains |
Protein: ENSMUSP00000033990
Gene: ENSMUSG00000031583
| Domain | Start | End | E-Value | Type |
|---|
|
35EXOc
|
47 |
226 |
1e-47 |
SMART |
|
low complexity region
|
484 |
489 |
N/A |
INTRINSIC |
|
DEXDc
|
509 |
704 |
2.3e-28 |
SMART |
|
HELICc
|
743 |
824 |
3.7e-27 |
SMART |
|
RQC
|
923 |
1028 |
3.1e-28 |
SMART |
|
HRDC
|
1115 |
1194 |
1.5e-26 |
SMART |
|
low complexity region
|
1205 |
1216 |
N/A |
INTRINSIC |
|
Pfam:HTH_40
|
1222 |
1318 |
2.7e-9 |
PFAM |
|
low complexity region
|
1342 |
1356 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033991
|
| SMART Domains |
Protein: ENSMUSP00000033991
Gene: ENSMUSG00000031583
| Domain | Start | End | E-Value | Type |
|---|
|
35EXOc
|
47 |
226 |
1.1e-47 |
SMART |
|
low complexity region
|
484 |
489 |
N/A |
INTRINSIC |
|
DEXDc
|
509 |
704 |
2.4e-28 |
SMART |
|
HELICc
|
743 |
824 |
3.7e-27 |
SMART |
|
Pfam:RecQ_Zn_bind
|
835 |
905 |
2.2e-8 |
PFAM |
|
RQC
|
923 |
1028 |
3.2e-28 |
SMART |
|
HRDC
|
1115 |
1194 |
1.5e-26 |
SMART |
|
low complexity region
|
1205 |
1216 |
N/A |
INTRINSIC |
|
Pfam:HTH_40
|
1223 |
1317 |
4.3e-10 |
PFAM |
|
low complexity region
|
1342 |
1356 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000070340
AA Change: L219*
|
| SMART Domains |
Protein: ENSMUSP00000065002
Gene: ENSMUSG00000049184
AA Change: L219*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
27 |
N/A |
INTRINSIC |
|
PUR
|
62 |
130 |
3.39e-16 |
SMART |
|
PUR
|
173 |
247 |
1.25e-19 |
SMART |
|
PUR
|
264 |
325 |
1.66e-19 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000078058
AA Change: L219*
|
| SMART Domains |
Protein: ENSMUSP00000077205
Gene: ENSMUSG00000049184
AA Change: L219*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
27 |
N/A |
INTRINSIC |
|
PUR
|
62 |
130 |
3.39e-16 |
SMART |
|
PUR
|
173 |
247 |
1.25e-19 |
SMART |
|
PUR
|
264 |
317 |
2.1e-2 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209293
|
| Meta Mutation Damage Score |
0.9754 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.4%
|
| Validation Efficiency |
100% (49/49) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The exact function of this gene is not known, however, its encoded product is highly similar to purine-rich element binding protein A. The latter is a DNA-binding protein which binds preferentially to the single strand of the purine-rich element termed PUR, and has been implicated in the control of both DNA replication and transcription. This gene lies in close proximity to the Werner syndrome gene, but on the opposite strand, on chromosome 8p11. [provided by RefSeq, Apr 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh8a1 |
G |
A |
10: 21,271,470 (GRCm39) |
V399I |
probably benign |
Het |
| Apold1 |
A |
G |
6: 134,960,869 (GRCm39) |
I108V |
probably benign |
Het |
| Arpc5 |
G |
A |
1: 152,644,607 (GRCm39) |
|
probably benign |
Het |
| Capn11 |
T |
A |
17: 45,964,682 (GRCm39) |
D45V |
probably damaging |
Het |
| Dctpp1 |
G |
A |
7: 126,856,285 (GRCm39) |
R146C |
probably damaging |
Het |
| Dlat |
C |
T |
9: 50,560,931 (GRCm39) |
|
probably null |
Het |
| Dock10 |
T |
A |
1: 80,584,286 (GRCm39) |
D140V |
probably damaging |
Het |
| Dtx3 |
A |
G |
10: 127,027,040 (GRCm39) |
V378A |
probably benign |
Het |
| Ezh2 |
A |
G |
6: 47,521,516 (GRCm39) |
I414T |
probably benign |
Het |
| Gm1979 |
C |
T |
5: 26,209,604 (GRCm39) |
W41* |
probably null |
Het |
| Igf2bp2 |
T |
C |
16: 21,882,426 (GRCm39) |
N425S |
probably damaging |
Het |
| Kdm5a |
T |
A |
6: 120,371,067 (GRCm39) |
Y504N |
probably damaging |
Het |
| Map3k21 |
T |
A |
8: 126,637,924 (GRCm39) |
I170N |
probably damaging |
Het |
| Mrgpra6 |
C |
A |
7: 46,838,463 (GRCm39) |
C245F |
possibly damaging |
Het |
| Nipal2 |
T |
G |
15: 34,600,207 (GRCm39) |
K203N |
possibly damaging |
Het |
| Nlrp1b |
A |
G |
11: 71,063,911 (GRCm39) |
F621S |
probably damaging |
Het |
| Nos3 |
G |
A |
5: 24,576,714 (GRCm39) |
V448M |
probably damaging |
Het |
| Ntrk3 |
G |
T |
7: 78,112,695 (GRCm39) |
|
probably benign |
Het |
| Or5b118 |
A |
T |
19: 13,448,561 (GRCm39) |
T76S |
possibly damaging |
Het |
| P2rx1 |
T |
C |
11: 72,900,799 (GRCm39) |
C190R |
probably damaging |
Het |
| Pdzrn4 |
T |
A |
15: 92,297,630 (GRCm39) |
D198E |
probably benign |
Het |
| Ptar1 |
A |
G |
19: 23,664,824 (GRCm39) |
M1V |
probably null |
Het |
| Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
| Rbp3 |
G |
T |
14: 33,677,347 (GRCm39) |
V432L |
possibly damaging |
Het |
| Scnn1b |
G |
T |
7: 121,513,555 (GRCm39) |
|
probably null |
Het |
| Sgms1 |
A |
G |
19: 32,120,192 (GRCm39) |
V238A |
possibly damaging |
Het |
| Slc16a14 |
G |
T |
1: 84,890,228 (GRCm39) |
S359* |
probably null |
Het |
| Smarca2 |
G |
A |
19: 26,661,327 (GRCm39) |
|
probably null |
Het |
| Spatc1l |
A |
G |
10: 76,398,323 (GRCm39) |
S42G |
probably benign |
Het |
| Stra6 |
T |
A |
9: 58,042,473 (GRCm39) |
V34E |
probably damaging |
Het |
| Tex14 |
A |
G |
11: 87,429,449 (GRCm39) |
|
probably null |
Het |
| Tox4 |
T |
C |
14: 52,523,361 (GRCm39) |
|
probably null |
Het |
| Tyr |
A |
G |
7: 87,087,148 (GRCm39) |
S455P |
probably benign |
Het |
| Uggt2 |
T |
C |
14: 119,263,845 (GRCm39) |
N1062D |
possibly damaging |
Het |
| Umod |
A |
C |
7: 119,075,913 (GRCm39) |
N284K |
possibly damaging |
Het |
| Unc93b1 |
T |
C |
19: 3,993,572 (GRCm39) |
I338T |
probably damaging |
Het |
| Vmn2r99 |
C |
T |
17: 19,598,832 (GRCm39) |
T172I |
possibly damaging |
Het |
| Whrn |
G |
A |
4: 63,333,876 (GRCm39) |
Q415* |
probably null |
Het |
|
| Other mutations in Purg |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01323:Purg
|
APN |
8 |
33,876,631 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1116:Purg
|
UTSW |
8 |
33,876,773 (GRCm39) |
missense |
probably benign |
0.37 |
|
R1185:Purg
|
UTSW |
8 |
33,876,897 (GRCm39) |
nonsense |
probably null |
|
|
R1185:Purg
|
UTSW |
8 |
33,876,897 (GRCm39) |
nonsense |
probably null |
|
|
R1185:Purg
|
UTSW |
8 |
33,876,897 (GRCm39) |
nonsense |
probably null |
|
|
R2945:Purg
|
UTSW |
8 |
33,876,671 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3859:Purg
|
UTSW |
8 |
33,876,587 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R4296:Purg
|
UTSW |
8 |
33,877,321 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4854:Purg
|
UTSW |
8 |
33,877,342 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5928:Purg
|
UTSW |
8 |
33,876,980 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6337:Purg
|
UTSW |
8 |
33,876,451 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R7580:Purg
|
UTSW |
8 |
33,906,661 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAGTGGGGTCAGAAGAGCATC -3'
(R):5'- GTATTACGGTAAGGCGGTCTC -3'
Sequencing Primer
(F):5'- GTCAGAAGAGCATCCTCACAGTG -3'
(R):5'- TAAGGCGGTCTCACCTCAC -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation