Incidental Mutation 'IGL03143:Art5'
| ID |
410775 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Art5
|
| Ensembl Gene |
ENSMUSG00000070424 |
| Gene Name |
ADP-ribosyltransferase 5 |
| Synonyms |
Yac-2 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.055)
|
| Stock # |
IGL03143
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
101746086-101752052 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 101747104 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 225
(I225T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102550
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033300]
[ENSMUST00000084843]
[ENSMUST00000094128]
[ENSMUST00000106934]
[ENSMUST00000106935]
[ENSMUST00000106937]
[ENSMUST00000123372]
[ENSMUST00000210211]
[ENSMUST00000209809]
[ENSMUST00000124189]
[ENSMUST00000139104]
|
| AlphaFold |
P70352 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033300
|
| SMART Domains |
Protein: ENSMUSP00000033300
Gene: ENSMUSG00000030996
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Pfam:ART
|
39 |
269 |
2e-99 |
PFAM |
|
low complexity region
|
288 |
313 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000084843
|
| SMART Domains |
Protein: ENSMUSP00000081903
Gene: ENSMUSG00000070425
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:XRCC1_N
|
1 |
150 |
1.4e-54 |
PFAM |
|
low complexity region
|
254 |
267 |
N/A |
INTRINSIC |
|
low complexity region
|
275 |
280 |
N/A |
INTRINSIC |
|
low complexity region
|
297 |
311 |
N/A |
INTRINSIC |
|
low complexity region
|
345 |
362 |
N/A |
INTRINSIC |
|
low complexity region
|
403 |
415 |
N/A |
INTRINSIC |
|
low complexity region
|
416 |
428 |
N/A |
INTRINSIC |
|
ANK
|
439 |
469 |
1.58e3 |
SMART |
|
low complexity region
|
484 |
496 |
N/A |
INTRINSIC |
|
ANK
|
522 |
551 |
1.74e0 |
SMART |
|
Pfam:TRP_2
|
557 |
619 |
1e-24 |
PFAM |
|
Pfam:Ion_trans
|
716 |
1024 |
1.7e-24 |
PFAM |
|
Pfam:PKD_channel
|
774 |
1019 |
2.4e-12 |
PFAM |
|
low complexity region
|
1070 |
1081 |
N/A |
INTRINSIC |
|
low complexity region
|
1093 |
1104 |
N/A |
INTRINSIC |
|
coiled coil region
|
1122 |
1162 |
N/A |
INTRINSIC |
|
low complexity region
|
1220 |
1236 |
N/A |
INTRINSIC |
|
low complexity region
|
1247 |
1263 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000094128
AA Change: I225T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000091678
Gene: ENSMUSG00000070424
AA Change: I225T
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
Pfam:ART
|
29 |
255 |
3.6e-96 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106934
AA Change: I127T
PolyPhen 2
Score 0.237 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000102547
Gene: ENSMUSG00000070424
AA Change: I127T
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
Pfam:ART
|
29 |
117 |
3.7e-29 |
PFAM |
|
Pfam:ART
|
114 |
157 |
6.5e-11 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106935
|
| SMART Domains |
Protein: ENSMUSP00000102548
Gene: ENSMUSG00000070424
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
Pfam:ART
|
29 |
146 |
2.1e-36 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106937
AA Change: I225T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102550
Gene: ENSMUSG00000070424
AA Change: I225T
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
Pfam:ART
|
29 |
255 |
1.9e-96 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123372
|
| SMART Domains |
Protein: ENSMUSP00000121068
Gene: ENSMUSG00000070425
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:XRCC1_N
|
1 |
152 |
5.2e-29 |
PFAM |
|
low complexity region
|
254 |
267 |
N/A |
INTRINSIC |
|
low complexity region
|
275 |
280 |
N/A |
INTRINSIC |
|
low complexity region
|
297 |
311 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
324 |
345 |
2.69e-6 |
PROSPERO |
|
low complexity region
|
346 |
379 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
380 |
401 |
2.69e-6 |
PROSPERO |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211553
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210211
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209809
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155078
|
| SMART Domains |
Protein: ENSMUSP00000123466
Gene: ENSMUSG00000070425
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:XRCC1_N
|
1 |
62 |
4.4e-22 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124189
|
| SMART Domains |
Protein: ENSMUSP00000116934
Gene: ENSMUSG00000100254
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
29 |
41 |
N/A |
INTRINSIC |
|
low complexity region
|
42 |
54 |
N/A |
INTRINSIC |
|
ANK
|
65 |
95 |
1.58e3 |
SMART |
|
low complexity region
|
110 |
122 |
N/A |
INTRINSIC |
|
ANK
|
148 |
177 |
1.74e0 |
SMART |
|
Pfam:TRP_2
|
183 |
245 |
9.1e-29 |
PFAM |
|
transmembrane domain
|
345 |
367 |
N/A |
INTRINSIC |
|
Pfam:PKD_channel
|
398 |
645 |
1.4e-12 |
PFAM |
|
Pfam:Ion_trans
|
422 |
638 |
1e-31 |
PFAM |
|
low complexity region
|
696 |
707 |
N/A |
INTRINSIC |
|
low complexity region
|
719 |
730 |
N/A |
INTRINSIC |
|
coiled coil region
|
748 |
788 |
N/A |
INTRINSIC |
|
low complexity region
|
846 |
862 |
N/A |
INTRINSIC |
|
low complexity region
|
873 |
889 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139104
|
| SMART Domains |
Protein: ENSMUSP00000122430
Gene: ENSMUSG00000070425
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:XRCC1_N
|
1 |
62 |
3.5e-14 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the ARG-specific ADP-ribosyltransferase family. Proteins in this family regulate the function of target proteins by attaching ADP-ribose to specific amino acid residues in their target proteins. The mouse homolog lacks a glycosylphosphatidylinositol-anchor signal sequence and is predicted to be a secretory enzyme. Several transcripts encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ackr2 |
T |
G |
9: 121,738,333 (GRCm39) |
L236R |
probably damaging |
Het |
| Agbl1 |
C |
T |
7: 76,069,793 (GRCm39) |
Q442* |
probably null |
Het |
| Ahrr |
G |
A |
13: 74,405,614 (GRCm39) |
Q108* |
probably null |
Het |
| Ankrd23 |
T |
C |
1: 36,570,726 (GRCm39) |
|
probably benign |
Het |
| Asxl3 |
T |
C |
18: 22,656,031 (GRCm39) |
V1347A |
probably benign |
Het |
| Birc6 |
A |
G |
17: 74,905,994 (GRCm39) |
M1326V |
possibly damaging |
Het |
| Bpifb6 |
A |
C |
2: 153,744,655 (GRCm39) |
N32T |
probably damaging |
Het |
| Brip1 |
T |
A |
11: 85,952,653 (GRCm39) |
T1043S |
possibly damaging |
Het |
| Cbx5 |
A |
T |
15: 103,121,532 (GRCm39) |
V35E |
probably damaging |
Het |
| Ccdc175 |
T |
A |
12: 72,182,832 (GRCm39) |
M396L |
probably benign |
Het |
| Ceacam3 |
G |
T |
7: 16,892,045 (GRCm39) |
E263* |
probably null |
Het |
| Cyp4a12a |
A |
G |
4: 115,159,200 (GRCm39) |
T157A |
probably benign |
Het |
| Dennd11 |
A |
T |
6: 40,399,828 (GRCm39) |
|
probably benign |
Het |
| Derl3 |
T |
C |
10: 75,730,324 (GRCm39) |
V129A |
possibly damaging |
Het |
| Dnajb1 |
T |
C |
8: 84,335,103 (GRCm39) |
I48T |
probably damaging |
Het |
| Dop1b |
G |
A |
16: 93,556,543 (GRCm39) |
E349K |
probably benign |
Het |
| Fkbp10 |
A |
T |
11: 100,313,580 (GRCm39) |
I285F |
probably benign |
Het |
| Frrs1 |
A |
T |
3: 116,692,836 (GRCm39) |
T37S |
probably damaging |
Het |
| Gata2 |
A |
G |
6: 88,181,677 (GRCm39) |
Y377C |
probably damaging |
Het |
| Gm9789 |
T |
A |
16: 88,954,883 (GRCm39) |
|
probably benign |
Het |
| Itpkb |
T |
A |
1: 180,160,933 (GRCm39) |
V353D |
probably benign |
Het |
| Kcng4 |
T |
C |
8: 120,352,509 (GRCm39) |
E467G |
probably damaging |
Het |
| Kdm3a |
A |
T |
6: 71,573,845 (GRCm39) |
I906N |
probably damaging |
Het |
| Lama1 |
G |
A |
17: 68,111,531 (GRCm39) |
G2261R |
probably damaging |
Het |
| Lamc1 |
A |
T |
1: 153,208,020 (GRCm39) |
L89Q |
probably benign |
Het |
| Lef1 |
G |
T |
3: 130,993,965 (GRCm39) |
E314* |
probably null |
Het |
| Lpin3 |
T |
C |
2: 160,745,518 (GRCm39) |
|
probably benign |
Het |
| Mrtfb |
A |
G |
16: 13,218,676 (GRCm39) |
N452D |
possibly damaging |
Het |
| Naaladl1 |
C |
T |
19: 6,164,896 (GRCm39) |
T628I |
possibly damaging |
Het |
| Nell1 |
C |
T |
7: 49,929,281 (GRCm39) |
Q259* |
probably null |
Het |
| Neu2 |
G |
T |
1: 87,524,698 (GRCm39) |
E228* |
probably null |
Het |
| Or5b119 |
A |
T |
19: 13,456,835 (GRCm39) |
H242Q |
probably damaging |
Het |
| Or5k15 |
A |
G |
16: 58,709,824 (GRCm39) |
F253S |
probably damaging |
Het |
| Or8g21 |
T |
G |
9: 38,906,732 (GRCm39) |
|
probably benign |
Het |
| Or8k20 |
T |
C |
2: 86,106,580 (GRCm39) |
N84D |
probably benign |
Het |
| Osbpl6 |
T |
A |
2: 76,378,716 (GRCm39) |
D124E |
probably damaging |
Het |
| Palm |
T |
C |
10: 79,652,617 (GRCm39) |
|
probably benign |
Het |
| Parp8 |
C |
A |
13: 117,047,497 (GRCm39) |
|
probably benign |
Het |
| Pax7 |
A |
G |
4: 139,556,798 (GRCm39) |
|
probably benign |
Het |
| Pcnx3 |
G |
A |
19: 5,735,423 (GRCm39) |
R468W |
probably damaging |
Het |
| Pds5b |
T |
A |
5: 150,702,722 (GRCm39) |
V818D |
probably damaging |
Het |
| Piezo2 |
C |
T |
18: 63,241,147 (GRCm39) |
V694I |
probably damaging |
Het |
| Plk1 |
A |
G |
7: 121,760,877 (GRCm39) |
|
probably benign |
Het |
| Polb |
T |
C |
8: 23,130,367 (GRCm39) |
|
probably benign |
Het |
| Rad54b |
A |
G |
4: 11,599,755 (GRCm39) |
T320A |
probably damaging |
Het |
| Reg3b |
G |
A |
6: 78,349,183 (GRCm39) |
W103* |
probably null |
Het |
| Slc17a3 |
T |
G |
13: 24,039,962 (GRCm39) |
|
probably null |
Het |
| Snrnp200 |
C |
T |
2: 127,071,962 (GRCm39) |
|
probably benign |
Het |
| Stox2 |
T |
A |
8: 47,646,839 (GRCm39) |
H207L |
possibly damaging |
Het |
| Tbx15 |
A |
C |
3: 99,259,514 (GRCm39) |
M462L |
possibly damaging |
Het |
| Tcirg1 |
G |
A |
19: 3,948,811 (GRCm39) |
T458I |
probably damaging |
Het |
| Tnfrsf25 |
A |
G |
4: 152,201,384 (GRCm39) |
|
probably benign |
Het |
| Trank1 |
A |
G |
9: 111,195,155 (GRCm39) |
K1060E |
probably damaging |
Het |
| Ttc16 |
T |
C |
2: 32,664,457 (GRCm39) |
D3G |
possibly damaging |
Het |
| Vmn1r199 |
A |
C |
13: 22,567,299 (GRCm39) |
N155H |
probably damaging |
Het |
| Vmn1r202 |
G |
A |
13: 22,685,640 (GRCm39) |
T259I |
probably benign |
Het |
|
| Other mutations in Art5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02142:Art5
|
APN |
7 |
101,747,123 (GRCm39) |
missense |
probably null |
|
|
IGL02507:Art5
|
APN |
7 |
101,748,699 (GRCm39) |
start codon destroyed |
probably null |
0.83 |
|
Buonarotti
|
UTSW |
7 |
101,747,377 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0632:Art5
|
UTSW |
7 |
101,747,164 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1215:Art5
|
UTSW |
7 |
101,747,116 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2151:Art5
|
UTSW |
7 |
101,747,407 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R2152:Art5
|
UTSW |
7 |
101,747,407 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R2153:Art5
|
UTSW |
7 |
101,747,407 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R4533:Art5
|
UTSW |
7 |
101,747,545 (GRCm39) |
missense |
probably benign |
|
|
R4719:Art5
|
UTSW |
7 |
101,747,701 (GRCm39) |
splice site |
probably null |
|
|
R5042:Art5
|
UTSW |
7 |
101,748,672 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5098:Art5
|
UTSW |
7 |
101,747,177 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5341:Art5
|
UTSW |
7 |
101,747,306 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6037:Art5
|
UTSW |
7 |
101,747,591 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6037:Art5
|
UTSW |
7 |
101,747,591 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6262:Art5
|
UTSW |
7 |
101,747,338 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6850:Art5
|
UTSW |
7 |
101,747,302 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R7186:Art5
|
UTSW |
7 |
101,746,536 (GRCm39) |
missense |
probably benign |
|
|
R7270:Art5
|
UTSW |
7 |
101,747,080 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7381:Art5
|
UTSW |
7 |
101,747,377 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7729:Art5
|
UTSW |
7 |
101,747,711 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R8061:Art5
|
UTSW |
7 |
101,747,456 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8112:Art5
|
UTSW |
7 |
101,747,218 (GRCm39) |
missense |
probably benign |
|
|
R8700:Art5
|
UTSW |
7 |
101,748,862 (GRCm39) |
unclassified |
probably benign |
|
|
R9043:Art5
|
UTSW |
7 |
101,748,699 (GRCm39) |
start codon destroyed |
probably null |
0.98 |
|
R9093:Art5
|
UTSW |
7 |
101,747,396 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9605:Art5
|
UTSW |
7 |
101,746,412 (GRCm39) |
missense |
probably benign |
|
|
X0061:Art5
|
UTSW |
7 |
101,747,587 (GRCm39) |
missense |
probably benign |
0.21 |
|
| Posted On |
2016-08-02 |
Incidental Mutation