Incidental Mutation 'R5042:Art5'
| ID |
393256 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Art5
|
| Ensembl Gene |
ENSMUSG00000070424 |
| Gene Name |
ADP-ribosyltransferase 5 |
| Synonyms |
Yac-2 |
| MMRRC Submission |
042632-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
R5042 (G1)
|
| Quality Score |
141 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
101746086-101752052 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 101748672 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Histidine
at position 10
(L10H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102550
(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 damaging
Transcript: ENSMUST00000094128
AA Change: L10H
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000091678
Gene: ENSMUSG00000070424
AA Change: L10H
| 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: L10H
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000102547
Gene: ENSMUSG00000070424
AA Change: L10H
| 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 damaging
Transcript: ENSMUST00000106935
AA Change: L10H
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000102548
Gene: ENSMUSG00000070424
AA Change: L10H
| 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: L10H
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000102550
Gene: ENSMUSG00000070424
AA Change: L10H
| 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: 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: ENSMUST00000139104
|
| SMART Domains |
Protein: ENSMUSP00000122430
Gene: ENSMUSG00000070425
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:XRCC1_N
|
1 |
62 |
3.5e-14 |
PFAM |
|
| Meta Mutation Damage Score |
0.4307 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 89.8%
|
| Validation Efficiency |
100% (57/57) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930432E11Rik |
T |
A |
7: 29,273,927 (GRCm39) |
|
noncoding transcript |
Het |
| 4933413J09Rik |
C |
A |
14: 26,097,436 (GRCm39) |
|
noncoding transcript |
Het |
| Aldh1a2 |
A |
G |
9: 71,192,286 (GRCm39) |
I413V |
possibly damaging |
Het |
| Alpk2 |
C |
T |
18: 65,483,579 (GRCm39) |
W143* |
probably null |
Het |
| Anpep |
G |
T |
7: 79,489,217 (GRCm39) |
N318K |
probably benign |
Het |
| Atg2b |
T |
G |
12: 105,587,521 (GRCm39) |
H1981P |
probably benign |
Het |
| B3gnt3 |
T |
C |
8: 72,145,532 (GRCm39) |
T279A |
probably damaging |
Het |
| Bmp10 |
G |
T |
6: 87,411,039 (GRCm39) |
E277D |
probably damaging |
Het |
| Ccdc180 |
A |
G |
4: 45,916,255 (GRCm39) |
T191A |
probably damaging |
Het |
| Dars2 |
T |
A |
1: 160,872,664 (GRCm39) |
|
probably benign |
Het |
| F5 |
T |
A |
1: 164,047,020 (GRCm39) |
I2160N |
probably damaging |
Het |
| Fndc7 |
A |
T |
3: 108,770,102 (GRCm39) |
V608D |
probably damaging |
Het |
| Gad1-ps |
A |
T |
10: 99,281,516 (GRCm39) |
|
noncoding transcript |
Het |
| Gbp2b |
A |
G |
3: 142,317,224 (GRCm39) |
K527E |
probably benign |
Het |
| Gm10719 |
T |
A |
9: 3,018,970 (GRCm39) |
F72I |
probably damaging |
Het |
| Hes3 |
T |
A |
4: 152,371,500 (GRCm39) |
S150C |
possibly damaging |
Het |
| Hp1bp3 |
T |
A |
4: 137,949,419 (GRCm39) |
M1K |
probably null |
Het |
| Il17rd |
T |
A |
14: 26,817,998 (GRCm39) |
V229E |
probably damaging |
Het |
| Iqch |
A |
G |
9: 63,403,516 (GRCm39) |
M634T |
possibly damaging |
Het |
| Magel2 |
C |
T |
7: 62,029,354 (GRCm39) |
R753W |
unknown |
Het |
| Med26 |
A |
G |
8: 73,250,919 (GRCm39) |
V60A |
probably damaging |
Het |
| Myo1d |
T |
A |
11: 80,448,347 (GRCm39) |
D926V |
probably damaging |
Het |
| Nat1 |
T |
G |
8: 67,944,228 (GRCm39) |
D201E |
probably benign |
Het |
| Nav3 |
G |
T |
10: 109,605,129 (GRCm39) |
S981R |
probably benign |
Het |
| Nbn |
C |
A |
4: 15,981,446 (GRCm39) |
L513M |
probably benign |
Het |
| Nfatc3 |
T |
C |
8: 106,834,757 (GRCm39) |
V701A |
probably benign |
Het |
| Nlrp9a |
A |
G |
7: 26,270,703 (GRCm39) |
D911G |
probably damaging |
Het |
| Npr2 |
A |
T |
4: 43,647,002 (GRCm39) |
I712F |
probably damaging |
Het |
| Oplah |
G |
A |
15: 76,189,909 (GRCm39) |
R235* |
probably null |
Het |
| Or10a48 |
A |
G |
7: 108,424,678 (GRCm39) |
I176T |
possibly damaging |
Het |
| Pcdha11 |
T |
A |
18: 37,144,649 (GRCm39) |
Y247N |
probably damaging |
Het |
| Pcdhga9 |
A |
G |
18: 37,870,630 (GRCm39) |
Y153C |
probably damaging |
Het |
| Pkd1 |
A |
T |
17: 24,788,861 (GRCm39) |
D873V |
probably benign |
Het |
| Pnpla1 |
A |
G |
17: 29,100,021 (GRCm39) |
N296S |
probably benign |
Het |
| Ppfia3 |
A |
G |
7: 44,991,765 (GRCm39) |
V839A |
probably damaging |
Het |
| Ppm1j |
A |
T |
3: 104,690,036 (GRCm39) |
Q148L |
probably null |
Het |
| Prune2 |
T |
A |
19: 17,097,161 (GRCm39) |
N888K |
possibly damaging |
Het |
| Sh3bgr |
A |
G |
16: 96,007,066 (GRCm39) |
D12G |
probably benign |
Het |
| Snph |
T |
A |
2: 151,442,977 (GRCm39) |
I35F |
possibly damaging |
Het |
| Spag17 |
A |
T |
3: 99,979,465 (GRCm39) |
D1442V |
probably damaging |
Het |
| Spidr |
T |
C |
16: 15,936,767 (GRCm39) |
T113A |
probably benign |
Het |
| St13 |
A |
T |
15: 81,249,693 (GRCm39) |
N349K |
probably damaging |
Het |
| Ttll6 |
C |
T |
11: 96,045,430 (GRCm39) |
S549F |
possibly damaging |
Het |
| Uap1l1 |
A |
T |
2: 25,252,097 (GRCm39) |
S473T |
possibly damaging |
Het |
| Vmn1r54 |
T |
C |
6: 90,246,422 (GRCm39) |
V112A |
possibly damaging |
Het |
| Vmn2r57 |
G |
A |
7: 41,078,086 (GRCm39) |
S124L |
probably benign |
Het |
| Wasf2 |
A |
T |
4: 132,903,875 (GRCm39) |
R28W |
probably benign |
Het |
| Wwp2 |
T |
A |
8: 108,275,117 (GRCm39) |
N417K |
possibly damaging |
Het |
| Zc3h13 |
A |
T |
14: 75,576,836 (GRCm39) |
D1648V |
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 |
|
|
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'- GGCACTTGGATTCCCTAATGG -3'
(R):5'- TAGACTAGGGCTGACATGGG -3'
Sequencing Primer
(F):5'- CCCTAATGGAATAGAAGTTCCTGAG -3'
(R):5'- GGGACAATAAAGTCTGAAGCCACATC -3'
|
| Posted On |
2016-06-15 |
Incidental Mutation