Incidental Mutation 'R1215:Art5'
ID |
99576 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Art5
|
Ensembl Gene |
ENSMUSG00000070424 |
Gene Name |
ADP-ribosyltransferase 5 |
Synonyms |
Yac-2 |
MMRRC Submission |
039284-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.055)
|
Stock # |
R1215 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
101746086-101752052 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 101747116 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Histidine
at position 123
(R123H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102547
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033300]
[ENSMUST00000084843]
[ENSMUST00000094128]
[ENSMUST00000106934]
[ENSMUST00000106935]
[ENSMUST00000106937]
[ENSMUST00000123372]
[ENSMUST00000209809]
[ENSMUST00000210211]
[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 benign
Transcript: ENSMUST00000094128
AA Change: R221H
PolyPhen 2
Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000091678 Gene: ENSMUSG00000070424 AA Change: R221H
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
Pfam:ART
|
29 |
255 |
3.6e-96 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000106934
AA Change: R123H
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000102547 Gene: ENSMUSG00000070424 AA Change: R123H
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 benign
Transcript: ENSMUST00000106937
AA Change: R221H
PolyPhen 2
Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000102550 Gene: ENSMUSG00000070424 AA Change: R221H
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: ENSMUST00000209809
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000210211
|
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 |
|
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 |
|
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.7%
- 20x: 90.5%
|
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: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alkbh2 |
C |
T |
5: 114,262,287 (GRCm39) |
E148K |
probably damaging |
Het |
Azin2 |
A |
G |
4: 128,843,489 (GRCm39) |
S66P |
probably damaging |
Het |
Cep295 |
T |
C |
9: 15,239,178 (GRCm39) |
E1865G |
probably benign |
Het |
Ces1a |
A |
G |
8: 93,759,318 (GRCm39) |
C273R |
probably damaging |
Het |
Cfap44 |
A |
G |
16: 44,239,666 (GRCm39) |
Y571C |
probably damaging |
Het |
Cntfr |
C |
A |
4: 41,662,064 (GRCm39) |
W226L |
probably damaging |
Het |
Csmd3 |
A |
T |
15: 47,868,227 (GRCm39) |
|
probably null |
Het |
Cyp2a4 |
C |
T |
7: 26,014,226 (GRCm39) |
P468S |
possibly damaging |
Het |
Dync1h1 |
G |
A |
12: 110,602,943 (GRCm39) |
E2195K |
probably benign |
Het |
E130308A19Rik |
T |
A |
4: 59,690,743 (GRCm39) |
D192E |
probably benign |
Het |
Fam184b |
C |
T |
5: 45,741,520 (GRCm39) |
R237H |
probably damaging |
Het |
Fmn1 |
T |
A |
2: 113,523,375 (GRCm39) |
Y1247* |
probably null |
Het |
Grb14 |
T |
C |
2: 64,747,608 (GRCm39) |
S18G |
probably benign |
Het |
Hs2st1 |
G |
A |
3: 144,170,902 (GRCm39) |
T90I |
possibly damaging |
Het |
Mcc |
A |
T |
18: 44,601,561 (GRCm39) |
N589K |
possibly damaging |
Het |
Mff |
T |
A |
1: 82,719,609 (GRCm39) |
S196T |
probably benign |
Het |
Nyap1 |
C |
T |
5: 137,733,395 (GRCm39) |
W546* |
probably null |
Het |
Or13p10 |
A |
T |
4: 118,523,496 (GRCm39) |
M261L |
possibly damaging |
Het |
Ppp2r3d |
A |
G |
9: 101,089,883 (GRCm39) |
S147P |
probably benign |
Het |
Rsph14 |
T |
C |
10: 74,860,898 (GRCm39) |
H134R |
probably benign |
Het |
Slc25a3 |
G |
A |
10: 90,953,170 (GRCm39) |
A274V |
possibly damaging |
Het |
Slc43a2 |
T |
A |
11: 75,453,688 (GRCm39) |
W229R |
probably damaging |
Het |
Slco4c1 |
C |
A |
1: 96,756,596 (GRCm39) |
L575F |
probably damaging |
Het |
Smyd4 |
T |
A |
11: 75,281,121 (GRCm39) |
I198N |
possibly damaging |
Het |
Trpm6 |
A |
G |
19: 18,773,862 (GRCm39) |
D413G |
probably damaging |
Het |
Ush2a |
A |
G |
1: 188,689,479 (GRCm39) |
T33A |
possibly damaging |
Het |
Zfp871 |
A |
T |
17: 32,994,946 (GRCm39) |
D57E |
possibly damaging |
Het |
Zfyve9 |
T |
C |
4: 108,507,426 (GRCm39) |
Q1176R |
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 |
IGL03143:Art5
|
APN |
7 |
101,747,104 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGGTGGAGCCCCAATCTCACTAAC -3'
(R):5'- TCAAGGCCCTGCATTTCTACTTGAC -3'
Sequencing Primer
(F):5'- GGGTCAGAATACACTGGCTTC -3'
(R):5'- TGCAGTAGGGGACCTGG -3'
|
Posted On |
2014-01-15 |