Incidental Mutation 'R6850:Art5'
| ID |
535593 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Art5
|
| Ensembl Gene |
ENSMUSG00000070424 |
| Gene Name |
ADP-ribosyltransferase 5 |
| Synonyms |
Yac-2 |
| MMRRC Submission |
044954-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.055)
|
| Stock # |
R6850 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
101746086-101752052 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 101747302 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 159
(V159A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102550
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033300]
[ENSMUST00000084843]
[ENSMUST00000094128]
[ENSMUST00000106934]
[ENSMUST00000106935]
[ENSMUST00000106937]
[ENSMUST00000123372]
[ENSMUST00000124189]
[ENSMUST00000139104]
[ENSMUST00000209809]
[ENSMUST00000210211]
|
| 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 |
possibly damaging
Transcript: ENSMUST00000094128
AA Change: V159A
PolyPhen 2
Score 0.599 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000091678
Gene: ENSMUSG00000070424
AA Change: V159A
| 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
|
| SMART Domains |
Protein: ENSMUSP00000102547
Gene: ENSMUSG00000070424
| 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 |
possibly damaging
Transcript: ENSMUST00000106937
AA Change: V159A
PolyPhen 2
Score 0.599 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000102550
Gene: ENSMUSG00000070424
AA Change: V159A
| 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: 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209809
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210211
|
| Meta Mutation Damage Score |
0.2258 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
98% (54/55) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgb |
T |
C |
10: 10,270,318 (GRCm39) |
M927V |
probably benign |
Het |
| Agr2 |
A |
G |
12: 36,045,558 (GRCm39) |
I15V |
probably benign |
Het |
| Alpk1 |
A |
G |
3: 127,523,012 (GRCm39) |
I10T |
possibly damaging |
Het |
| Asz1 |
G |
A |
6: 18,108,942 (GRCm39) |
R32W |
probably benign |
Het |
| Atp8b1 |
A |
C |
18: 64,689,923 (GRCm39) |
M603R |
possibly damaging |
Het |
| Cacna1s |
G |
A |
1: 136,020,432 (GRCm39) |
R823Q |
probably benign |
Het |
| Car9 |
A |
G |
4: 43,507,321 (GRCm39) |
E3G |
probably damaging |
Het |
| Cpne3 |
A |
T |
4: 19,535,231 (GRCm39) |
I267N |
possibly damaging |
Het |
| Cyp2c65 |
T |
A |
19: 39,057,535 (GRCm39) |
F57I |
probably benign |
Het |
| D430041D05Rik |
T |
C |
2: 104,031,604 (GRCm39) |
K980R |
probably damaging |
Het |
| Dnhd1 |
G |
T |
7: 105,369,137 (GRCm39) |
G4303W |
possibly damaging |
Het |
| Dnmt3a |
A |
G |
12: 3,947,600 (GRCm39) |
N485D |
probably benign |
Het |
| Dusp4 |
A |
T |
8: 35,283,651 (GRCm39) |
K166* |
probably null |
Het |
| Ect2 |
T |
C |
3: 27,193,034 (GRCm39) |
D344G |
probably damaging |
Het |
| Eif2b1 |
T |
C |
5: 124,717,069 (GRCm39) |
D3G |
probably benign |
Het |
| Ermp1 |
A |
G |
19: 29,594,041 (GRCm39) |
Y710H |
probably damaging |
Het |
| Gar1 |
T |
C |
3: 129,623,038 (GRCm39) |
N117S |
probably damaging |
Het |
| H2-T10 |
A |
G |
17: 36,430,152 (GRCm39) |
L263P |
probably damaging |
Het |
| Iqcn |
A |
T |
8: 71,163,425 (GRCm39) |
N873Y |
probably damaging |
Het |
| Itga7 |
A |
T |
10: 128,781,385 (GRCm39) |
I621F |
probably damaging |
Het |
| Kcna3 |
A |
T |
3: 106,944,475 (GRCm39) |
D246V |
probably damaging |
Het |
| Kctd12 |
C |
T |
14: 103,219,414 (GRCm39) |
G155S |
probably benign |
Het |
| Lrtm1 |
T |
C |
14: 28,749,407 (GRCm39) |
V256A |
probably benign |
Het |
| Mcf2l |
T |
C |
8: 13,059,476 (GRCm39) |
F629L |
possibly damaging |
Het |
| Mphosph9 |
A |
G |
5: 124,399,019 (GRCm39) |
F999L |
probably damaging |
Het |
| Mtres1 |
ACTGCACCACCT |
ACT |
10: 43,408,721 (GRCm39) |
|
probably benign |
Het |
| Obscn |
C |
T |
11: 58,892,955 (GRCm39) |
A6764T |
possibly damaging |
Het |
| Obscn |
C |
T |
11: 58,958,950 (GRCm39) |
V3643M |
possibly damaging |
Het |
| Or4c102 |
T |
A |
2: 88,422,650 (GRCm39) |
C167* |
probably null |
Het |
| Or8g18 |
T |
C |
9: 39,149,271 (GRCm39) |
I150V |
probably benign |
Het |
| Pdhx |
T |
C |
2: 102,871,445 (GRCm39) |
H195R |
probably damaging |
Het |
| Pdilt |
A |
T |
7: 119,086,182 (GRCm39) |
V511E |
probably damaging |
Het |
| Prima1 |
C |
T |
12: 103,163,594 (GRCm39) |
D126N |
probably benign |
Het |
| Prrc2c |
TTGCTGCTGCTGCTGCTGCTGCTGCTGC |
TTGCTGCTGCTGCTGCTGCTGCTGC |
1: 162,536,630 (GRCm39) |
|
probably benign |
Het |
| Prune2 |
C |
A |
19: 17,099,552 (GRCm39) |
D1685E |
probably benign |
Het |
| Ptgs2 |
A |
T |
1: 149,981,291 (GRCm39) |
I525F |
probably damaging |
Het |
| Rab11fip2 |
A |
T |
19: 59,925,441 (GRCm39) |
F259I |
possibly damaging |
Het |
| Ranbp3l |
C |
A |
15: 9,058,808 (GRCm39) |
D216E |
probably damaging |
Het |
| Scn5a |
A |
T |
9: 119,330,815 (GRCm39) |
L1240Q |
possibly damaging |
Het |
| Sohlh2 |
A |
T |
3: 55,099,707 (GRCm39) |
T160S |
probably benign |
Het |
| Sorbs1 |
G |
C |
19: 40,365,244 (GRCm39) |
R180G |
probably benign |
Het |
| Spata31h1 |
A |
C |
10: 82,128,888 (GRCm39) |
M1374R |
possibly damaging |
Het |
| Tank |
A |
G |
2: 61,480,346 (GRCm39) |
E294G |
probably benign |
Het |
| Tars1 |
T |
A |
15: 11,392,885 (GRCm39) |
Y187F |
probably benign |
Het |
| Tas2r144 |
T |
A |
6: 42,192,857 (GRCm39) |
M199K |
possibly damaging |
Het |
| Tdrd3 |
T |
C |
14: 87,695,515 (GRCm39) |
|
probably benign |
Het |
| Tecta |
T |
A |
9: 42,255,134 (GRCm39) |
D1683V |
probably benign |
Het |
| Tln2 |
A |
G |
9: 67,165,817 (GRCm39) |
I2098T |
probably damaging |
Het |
| Tmie |
A |
G |
9: 110,695,980 (GRCm39) |
I137T |
possibly damaging |
Het |
| Trim45 |
T |
A |
3: 100,830,541 (GRCm39) |
L105* |
probably null |
Het |
| Trpv3 |
G |
A |
11: 73,182,519 (GRCm39) |
G568S |
probably damaging |
Het |
| Wdr75 |
A |
G |
1: 45,853,758 (GRCm39) |
T390A |
probably benign |
Het |
| Wdr97 |
A |
G |
15: 76,241,996 (GRCm39) |
Y763C |
probably damaging |
Het |
| Zfp35 |
G |
A |
18: 24,135,839 (GRCm39) |
R61H |
possibly 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 |
|
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 |
|
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'- GACAGACAACGCCTGGATAG -3'
(R):5'- ACAAGCTCACTCTACCTCCTGG -3'
Sequencing Primer
(F):5'- ACAACGCCTGGATAGGAGCC -3'
(R):5'- CACGGAGTAGCGATTATGGTGTAC -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation