Incidental Mutation 'IGL02449:Pds5a'
| ID |
294067 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pds5a
|
| Ensembl Gene |
ENSMUSG00000029202 |
| Gene Name |
PDS5 cohesin associated factor A |
| Synonyms |
9030416H16Rik, E230024D05Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02449
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
65763062-65855579 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 65776353 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 80
(N80K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144463
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031104]
[ENSMUST00000201948]
[ENSMUST00000202648]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031104
AA Change: N1196K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000031104
Gene: ENSMUSG00000029202
AA Change: N1196K
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1gw5a_
|
253 |
782 |
6e-30 |
SMART |
|
low complexity region
|
934 |
946 |
N/A |
INTRINSIC |
|
low complexity region
|
1174 |
1190 |
N/A |
INTRINSIC |
|
low complexity region
|
1258 |
1276 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200766
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201420
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201770
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201948
AA Change: N1196K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000144171
Gene: ENSMUSG00000029202
AA Change: N1196K
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1gw5a_
|
253 |
782 |
6e-30 |
SMART |
|
low complexity region
|
934 |
946 |
N/A |
INTRINSIC |
|
low complexity region
|
1174 |
1190 |
N/A |
INTRINSIC |
|
low complexity region
|
1258 |
1276 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201987
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202107
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000202648
AA Change: N80K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000144463
Gene: ENSMUSG00000029202
AA Change: N80K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
58 |
74 |
N/A |
INTRINSIC |
|
low complexity region
|
100 |
110 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202446
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202910
|
| 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 binds to the cohesin complex and associates with chromatin through most of the cell cycle. The encoded protein may play a role in regulating sister chromatid cohesion during mitosis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010]
PHENOTYPE: Mice homozygous for a null allele exhibit neonatal lethality associated with respiratory distress, abnormal heart development, abnormal skeletal development, kidney agenesis, and delayed enteric nervous system development. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
A |
T |
1: 71,440,908 (GRCm39) |
|
probably null |
Het |
| Akap6 |
A |
G |
12: 53,186,971 (GRCm39) |
T1462A |
probably damaging |
Het |
| Arl6ip6 |
T |
C |
2: 53,082,538 (GRCm39) |
|
probably benign |
Het |
| Ascc3 |
A |
T |
10: 50,576,695 (GRCm39) |
Q883H |
probably benign |
Het |
| Atp11a |
T |
A |
8: 12,807,358 (GRCm39) |
|
probably null |
Het |
| Cds1 |
G |
A |
5: 101,963,794 (GRCm39) |
G371D |
probably damaging |
Het |
| Col12a1 |
A |
G |
9: 79,548,751 (GRCm39) |
L2198P |
probably damaging |
Het |
| Cyp2d22 |
C |
T |
15: 82,257,442 (GRCm39) |
G241D |
probably benign |
Het |
| Dapk1 |
T |
C |
13: 60,867,584 (GRCm39) |
|
probably benign |
Het |
| Dera |
T |
A |
6: 137,757,815 (GRCm39) |
|
probably null |
Het |
| Efcab6 |
A |
G |
15: 83,894,234 (GRCm39) |
V186A |
probably benign |
Het |
| Gm9637 |
T |
A |
14: 19,402,436 (GRCm38) |
|
noncoding transcript |
Het |
| Gpr180 |
T |
C |
14: 118,397,532 (GRCm39) |
L342P |
probably damaging |
Het |
| Heg1 |
T |
C |
16: 33,559,095 (GRCm39) |
|
probably null |
Het |
| Kcnab2 |
C |
A |
4: 152,496,441 (GRCm39) |
|
probably null |
Het |
| Lax1 |
A |
G |
1: 133,607,874 (GRCm39) |
V289A |
probably damaging |
Het |
| Ly6k |
T |
G |
15: 74,668,934 (GRCm39) |
D115A |
probably benign |
Het |
| Mcc |
A |
C |
18: 44,593,025 (GRCm39) |
I670S |
probably benign |
Het |
| Mpdz |
C |
A |
4: 81,247,659 (GRCm39) |
|
probably null |
Het |
| Mrgprb8 |
T |
A |
7: 48,038,431 (GRCm39) |
L34* |
probably null |
Het |
| Mtor |
T |
A |
4: 148,618,378 (GRCm39) |
H1730Q |
possibly damaging |
Het |
| Muc4 |
C |
T |
16: 32,576,503 (GRCm39) |
|
probably benign |
Het |
| Myh8 |
T |
C |
11: 67,185,440 (GRCm39) |
|
probably null |
Het |
| Naip5 |
A |
T |
13: 100,358,683 (GRCm39) |
V851E |
probably benign |
Het |
| Neb |
T |
C |
2: 52,091,918 (GRCm39) |
I1277V |
probably benign |
Het |
| Nlrp9a |
T |
C |
7: 26,264,396 (GRCm39) |
M683T |
probably benign |
Het |
| Npr2 |
A |
G |
4: 43,646,641 (GRCm39) |
Y663C |
probably damaging |
Het |
| Padi3 |
C |
T |
4: 140,517,023 (GRCm39) |
|
probably null |
Het |
| Pclo |
A |
G |
5: 14,565,357 (GRCm39) |
D41G |
probably damaging |
Het |
| Plec |
C |
T |
15: 76,070,963 (GRCm39) |
D812N |
possibly damaging |
Het |
| Psg20 |
A |
T |
7: 18,418,333 (GRCm39) |
|
probably benign |
Het |
| Ptch2 |
C |
A |
4: 116,965,380 (GRCm39) |
L322I |
possibly damaging |
Het |
| Ptprv |
T |
C |
1: 135,039,074 (GRCm39) |
|
noncoding transcript |
Het |
| Scn2b |
A |
G |
9: 45,036,812 (GRCm39) |
K107E |
probably damaging |
Het |
| Slc24a4 |
A |
C |
12: 102,193,341 (GRCm39) |
I226L |
probably benign |
Het |
| Spink4 |
A |
G |
4: 40,929,190 (GRCm39) |
M72V |
probably benign |
Het |
| Supt16 |
A |
T |
14: 52,411,263 (GRCm39) |
M676K |
possibly damaging |
Het |
| Svep1 |
A |
C |
4: 58,070,296 (GRCm39) |
C2497G |
possibly damaging |
Het |
| Tenm2 |
T |
A |
11: 35,914,449 (GRCm39) |
T2362S |
probably damaging |
Het |
| Tgm3 |
G |
T |
2: 129,880,529 (GRCm39) |
|
probably null |
Het |
| Trpa1 |
T |
A |
1: 14,968,381 (GRCm39) |
T462S |
probably damaging |
Het |
| Ucp2 |
G |
A |
7: 100,148,017 (GRCm39) |
V237M |
probably damaging |
Het |
| Vmn2r53 |
C |
A |
7: 12,316,288 (GRCm39) |
L510F |
probably damaging |
Het |
| Zan |
G |
A |
5: 137,387,589 (GRCm39) |
T4874M |
unknown |
Het |
| Zfp13 |
C |
T |
17: 23,795,072 (GRCm39) |
A493T |
probably benign |
Het |
| Zfp974 |
T |
A |
7: 27,611,152 (GRCm39) |
Y191F |
probably benign |
Het |
|
| Other mutations in Pds5a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00589:Pds5a
|
APN |
5 |
65,813,687 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00979:Pds5a
|
APN |
5 |
65,789,066 (GRCm39) |
missense |
probably benign |
0.22 |
|
IGL01314:Pds5a
|
APN |
5 |
65,772,637 (GRCm39) |
missense |
probably benign |
|
|
IGL02539:Pds5a
|
APN |
5 |
65,823,462 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03395:Pds5a
|
APN |
5 |
65,809,792 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R0569:Pds5a
|
UTSW |
5 |
65,813,744 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0704:Pds5a
|
UTSW |
5 |
65,777,928 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1170:Pds5a
|
UTSW |
5 |
65,792,645 (GRCm39) |
splice site |
probably benign |
|
|
R1181:Pds5a
|
UTSW |
5 |
65,784,545 (GRCm39) |
splice site |
probably null |
|
|
R1193:Pds5a
|
UTSW |
5 |
65,795,145 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1537:Pds5a
|
UTSW |
5 |
65,804,464 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1853:Pds5a
|
UTSW |
5 |
65,781,372 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R2016:Pds5a
|
UTSW |
5 |
65,805,350 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R2154:Pds5a
|
UTSW |
5 |
65,807,841 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2209:Pds5a
|
UTSW |
5 |
65,785,357 (GRCm39) |
nonsense |
probably null |
|
|
R2234:Pds5a
|
UTSW |
5 |
65,811,441 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2235:Pds5a
|
UTSW |
5 |
65,811,441 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2332:Pds5a
|
UTSW |
5 |
65,784,422 (GRCm39) |
splice site |
probably null |
|
|
R3114:Pds5a
|
UTSW |
5 |
65,776,328 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3417:Pds5a
|
UTSW |
5 |
65,795,235 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3820:Pds5a
|
UTSW |
5 |
65,811,419 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4152:Pds5a
|
UTSW |
5 |
65,823,514 (GRCm39) |
nonsense |
probably null |
|
|
R4159:Pds5a
|
UTSW |
5 |
65,821,839 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R4160:Pds5a
|
UTSW |
5 |
65,821,839 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R4161:Pds5a
|
UTSW |
5 |
65,821,839 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R4230:Pds5a
|
UTSW |
5 |
65,787,329 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R4491:Pds5a
|
UTSW |
5 |
65,792,780 (GRCm39) |
missense |
probably benign |
|
|
R4647:Pds5a
|
UTSW |
5 |
65,813,661 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4816:Pds5a
|
UTSW |
5 |
65,808,632 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4867:Pds5a
|
UTSW |
5 |
65,801,463 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5001:Pds5a
|
UTSW |
5 |
65,854,128 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5013:Pds5a
|
UTSW |
5 |
65,792,680 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5054:Pds5a
|
UTSW |
5 |
65,795,157 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5068:Pds5a
|
UTSW |
5 |
65,772,615 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5178:Pds5a
|
UTSW |
5 |
65,821,218 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5269:Pds5a
|
UTSW |
5 |
65,821,271 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5396:Pds5a
|
UTSW |
5 |
65,795,920 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5704:Pds5a
|
UTSW |
5 |
65,784,422 (GRCm39) |
splice site |
probably null |
|
|
R5940:Pds5a
|
UTSW |
5 |
65,801,328 (GRCm39) |
intron |
probably benign |
|
|
R6306:Pds5a
|
UTSW |
5 |
65,813,639 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6322:Pds5a
|
UTSW |
5 |
65,854,177 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6467:Pds5a
|
UTSW |
5 |
65,809,782 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6476:Pds5a
|
UTSW |
5 |
65,791,630 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6513:Pds5a
|
UTSW |
5 |
65,772,944 (GRCm39) |
missense |
probably benign |
0.18 |
|
R7304:Pds5a
|
UTSW |
5 |
65,777,077 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7312:Pds5a
|
UTSW |
5 |
65,823,570 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R7438:Pds5a
|
UTSW |
5 |
65,809,878 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7637:Pds5a
|
UTSW |
5 |
65,795,947 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7654:Pds5a
|
UTSW |
5 |
65,776,324 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7707:Pds5a
|
UTSW |
5 |
65,767,476 (GRCm39) |
missense |
unknown |
|
|
R7715:Pds5a
|
UTSW |
5 |
65,795,904 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R7748:Pds5a
|
UTSW |
5 |
65,777,009 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7910:Pds5a
|
UTSW |
5 |
65,795,925 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R8014:Pds5a
|
UTSW |
5 |
65,785,082 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R8023:Pds5a
|
UTSW |
5 |
65,795,241 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8070:Pds5a
|
UTSW |
5 |
65,809,741 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8190:Pds5a
|
UTSW |
5 |
65,781,341 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8406:Pds5a
|
UTSW |
5 |
65,803,681 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9074:Pds5a
|
UTSW |
5 |
65,804,479 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R9222:Pds5a
|
UTSW |
5 |
65,805,281 (GRCm39) |
missense |
probably benign |
0.42 |
|
R9390:Pds5a
|
UTSW |
5 |
65,823,600 (GRCm39) |
missense |
probably benign |
0.39 |
|
R9404:Pds5a
|
UTSW |
5 |
65,776,307 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9479:Pds5a
|
UTSW |
5 |
65,792,747 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9493:Pds5a
|
UTSW |
5 |
65,792,747 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9596:Pds5a
|
UTSW |
5 |
65,772,830 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9681:Pds5a
|
UTSW |
5 |
65,808,587 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9688:Pds5a
|
UTSW |
5 |
65,812,196 (GRCm39) |
missense |
probably benign |
0.44 |
|
R9792:Pds5a
|
UTSW |
5 |
65,795,989 (GRCm39) |
missense |
probably benign |
|
|
Z1088:Pds5a
|
UTSW |
5 |
65,776,329 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Pds5a
|
UTSW |
5 |
65,817,070 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
Z1177:Pds5a
|
UTSW |
5 |
65,808,555 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
| Posted On |
2015-04-16 |
Incidental Mutation