Incidental Mutation 'R6037:Art5'
| ID |
479260 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Art5
|
| Ensembl Gene |
ENSMUSG00000070424 |
| Gene Name |
ADP-ribosyltransferase 5 |
| Synonyms |
Yac-2 |
| MMRRC Submission |
043258-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.055)
|
| Stock # |
R6037 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
101746086-101752052 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 101747591 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Serine
at position 63
(A63S)
|
| 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 benign
Transcript: ENSMUST00000094128
AA Change: A63S
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000091678
Gene: ENSMUSG00000070424
AA Change: A63S
| 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: A63S
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000102547
Gene: ENSMUSG00000070424
AA Change: A63S
| 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
AA Change: A63S
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000102548
Gene: ENSMUSG00000070424
AA Change: A63S
| 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: A63S
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000102550
Gene: ENSMUSG00000070424
AA Change: A63S
| 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 |
probably benign
Transcript: ENSMUST00000210211
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209809
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211553
|
| 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: 99.8%
- 3x: 99.0%
- 10x: 92.4%
- 20x: 72.6%
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930505A04Rik |
C |
T |
11: 30,376,349 (GRCm39) |
V173M |
probably damaging |
Het |
| Abi2 |
C |
A |
1: 60,503,738 (GRCm39) |
P212T |
probably damaging |
Het |
| Ano4 |
A |
G |
10: 89,153,108 (GRCm39) |
F68S |
possibly damaging |
Het |
| Asgr1 |
T |
A |
11: 69,947,247 (GRCm39) |
S96R |
probably benign |
Het |
| Bdp1 |
A |
T |
13: 100,163,957 (GRCm39) |
V2248D |
possibly damaging |
Het |
| Cacna1s |
C |
T |
1: 135,998,705 (GRCm39) |
A200V |
possibly damaging |
Het |
| Cacna2d2 |
A |
G |
9: 107,390,738 (GRCm39) |
K357E |
probably damaging |
Het |
| Cdhr18 |
T |
C |
14: 13,864,282 (GRCm38) |
N348S |
probably damaging |
Het |
| Cfap52 |
C |
T |
11: 67,837,126 (GRCm39) |
G212R |
probably benign |
Het |
| Dcun1d3 |
A |
G |
7: 119,456,965 (GRCm39) |
F249S |
probably damaging |
Het |
| Ece2 |
A |
G |
16: 20,449,112 (GRCm39) |
Y17C |
probably damaging |
Het |
| Efemp1 |
C |
T |
11: 28,871,760 (GRCm39) |
T425I |
probably damaging |
Het |
| Eprs1 |
A |
G |
1: 185,128,306 (GRCm39) |
E562G |
probably damaging |
Het |
| Fbn2 |
T |
C |
18: 58,177,295 (GRCm39) |
T2001A |
probably benign |
Het |
| Flt4 |
G |
A |
11: 49,527,867 (GRCm39) |
R940H |
probably damaging |
Het |
| Fry |
T |
A |
5: 150,351,644 (GRCm39) |
M1716K |
probably benign |
Het |
| Gm10684 |
T |
A |
9: 45,019,039 (GRCm39) |
|
probably benign |
Het |
| Hivep1 |
G |
A |
13: 42,311,416 (GRCm39) |
V1219I |
probably damaging |
Het |
| Hyls1 |
G |
A |
9: 35,472,480 (GRCm39) |
S312F |
probably benign |
Het |
| Il23r |
C |
T |
6: 67,455,938 (GRCm39) |
V177M |
probably damaging |
Het |
| Klf12 |
T |
C |
14: 100,137,650 (GRCm39) |
S299G |
probably benign |
Het |
| Lama5 |
G |
A |
2: 179,848,806 (GRCm39) |
R265C |
probably damaging |
Het |
| Lifr |
A |
G |
15: 7,216,424 (GRCm39) |
T800A |
probably damaging |
Het |
| Megf8 |
T |
C |
7: 25,063,831 (GRCm39) |
L2729P |
probably damaging |
Het |
| Mki67 |
A |
C |
7: 135,298,532 (GRCm39) |
S2167R |
possibly damaging |
Het |
| Mus81 |
T |
C |
19: 5,534,032 (GRCm39) |
K400E |
probably damaging |
Het |
| Nomo1 |
T |
A |
7: 45,712,423 (GRCm39) |
I656N |
possibly damaging |
Het |
| Oas3 |
T |
C |
5: 120,907,384 (GRCm39) |
T418A |
probably benign |
Het |
| Olr1 |
A |
G |
6: 129,470,504 (GRCm39) |
L221P |
probably damaging |
Het |
| Or14c44 |
C |
T |
7: 86,062,478 (GRCm39) |
L303F |
probably benign |
Het |
| Or5m9 |
T |
C |
2: 85,876,928 (GRCm39) |
M34T |
probably benign |
Het |
| Or8b3 |
T |
A |
9: 38,314,601 (GRCm39) |
C144S |
probably benign |
Het |
| Or8g22 |
A |
G |
9: 38,958,403 (GRCm39) |
V104A |
probably damaging |
Het |
| Or8k28 |
T |
A |
2: 86,286,133 (GRCm39) |
I161L |
probably benign |
Het |
| Pih1d1 |
C |
T |
7: 44,805,738 (GRCm39) |
A69V |
probably damaging |
Het |
| Pkdrej |
A |
C |
15: 85,703,967 (GRCm39) |
S656R |
probably damaging |
Het |
| Polr3f |
A |
G |
2: 144,377,943 (GRCm39) |
D171G |
probably damaging |
Het |
| Rasal1 |
T |
C |
5: 120,787,566 (GRCm39) |
V11A |
possibly damaging |
Het |
| Rsf1 |
G |
GACGGCGGCT |
7: 97,229,116 (GRCm39) |
|
probably benign |
Het |
| Sptbn4 |
T |
A |
7: 27,063,595 (GRCm39) |
Y2277F |
probably damaging |
Het |
| St6galnac6 |
A |
G |
2: 32,502,240 (GRCm39) |
Q7R |
probably damaging |
Het |
| Thrsp |
T |
G |
7: 97,066,499 (GRCm39) |
D71A |
possibly damaging |
Het |
| Vmn2r1 |
C |
A |
3: 63,989,150 (GRCm39) |
Q30K |
probably benign |
Het |
| Vmn2r125 |
C |
A |
4: 156,703,396 (GRCm39) |
A258D |
probably benign |
Het |
| Wipf2 |
C |
T |
11: 98,787,005 (GRCm39) |
P345S |
probably benign |
Het |
| Zeb2 |
G |
T |
2: 44,878,652 (GRCm39) |
S1170* |
probably null |
Het |
| Zfp947 |
A |
G |
17: 22,366,415 (GRCm39) |
Y38H |
probably damaging |
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 |
|
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 |
|
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 |
|
| Posted On |
2017-06-26 |
Incidental Mutation