Incidental Mutation 'R0704:Pds5a'
ID |
63086 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pds5a
|
Ensembl Gene |
ENSMUSG00000029202 |
Gene Name |
PDS5 cohesin associated factor A |
Synonyms |
9030416H16Rik, E230024D05Rik |
MMRRC Submission |
038887-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0704 (G1)
|
Quality Score |
154 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
65763062-65855579 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 65777928 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 6
(S6P)
|
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: S1122P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000031104 Gene: ENSMUSG00000029202 AA Change: S1122P
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: S1122P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000144171 Gene: ENSMUSG00000029202 AA Change: S1122P
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: S6P
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000144463 Gene: ENSMUSG00000029202 AA Change: S6P
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: ENSMUST00000202910
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202446
|
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.7%
- 20x: 96.0%
|
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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930433I11Rik |
T |
A |
7: 40,643,381 (GRCm39) |
L441Q |
probably damaging |
Het |
Abca15 |
A |
T |
7: 119,953,746 (GRCm39) |
E550V |
probably damaging |
Het |
Adcy4 |
A |
G |
14: 56,010,213 (GRCm39) |
F690L |
probably benign |
Het |
Aspg |
T |
A |
12: 112,080,906 (GRCm39) |
N132K |
probably damaging |
Het |
B430305J03Rik |
A |
T |
3: 61,271,414 (GRCm39) |
Y110* |
probably null |
Het |
Cep135 |
A |
G |
5: 76,778,796 (GRCm39) |
E741G |
possibly damaging |
Het |
Cplane1 |
T |
C |
15: 8,239,567 (GRCm39) |
V1256A |
possibly damaging |
Het |
Dkkl1 |
T |
C |
7: 44,859,539 (GRCm39) |
K128E |
probably damaging |
Het |
Duox2 |
A |
T |
2: 122,115,249 (GRCm39) |
M1101K |
probably benign |
Het |
Gpr89 |
T |
C |
3: 96,787,484 (GRCm39) |
|
probably null |
Het |
Hormad1 |
T |
C |
3: 95,473,997 (GRCm39) |
|
probably null |
Het |
Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
Ipo9 |
ATCCTCCTCCTCCTCCTC |
ATCCTCCTCCTCCTC |
1: 135,314,006 (GRCm39) |
|
probably benign |
Het |
Itga2 |
A |
G |
13: 114,998,911 (GRCm39) |
F658S |
possibly damaging |
Het |
Kcnc4 |
T |
C |
3: 107,355,279 (GRCm39) |
I390V |
possibly damaging |
Het |
Krt84 |
G |
T |
15: 101,441,112 (GRCm39) |
H27N |
probably benign |
Het |
Lama5 |
A |
G |
2: 179,821,277 (GRCm39) |
I3095T |
possibly damaging |
Het |
Mef2a |
G |
T |
7: 66,884,896 (GRCm39) |
S406* |
probably null |
Het |
Ms4a1 |
T |
C |
19: 11,230,596 (GRCm39) |
T202A |
probably benign |
Het |
Nrbp2 |
A |
G |
15: 75,960,801 (GRCm39) |
S294P |
probably damaging |
Het |
Or6b13 |
A |
G |
7: 139,782,548 (GRCm39) |
V45A |
probably benign |
Het |
Or6c215 |
A |
G |
10: 129,638,172 (GRCm39) |
V74A |
probably benign |
Het |
Pde4b |
C |
T |
4: 102,344,589 (GRCm39) |
L155F |
probably damaging |
Het |
Ralgapa2 |
A |
T |
2: 146,293,704 (GRCm39) |
L150Q |
probably damaging |
Het |
Reln |
C |
T |
5: 22,101,809 (GRCm39) |
V3374I |
probably damaging |
Het |
Rgs12 |
T |
G |
5: 35,180,466 (GRCm39) |
S253A |
possibly damaging |
Het |
Sap130 |
C |
A |
18: 31,786,607 (GRCm39) |
T266K |
probably damaging |
Het |
Sis |
T |
C |
3: 72,857,155 (GRCm39) |
I379V |
possibly damaging |
Het |
Slc39a10 |
T |
A |
1: 46,875,021 (GRCm39) |
I94F |
possibly damaging |
Het |
Sptb |
A |
T |
12: 76,630,368 (GRCm39) |
N2263K |
probably damaging |
Het |
Srsf12 |
A |
G |
4: 33,231,069 (GRCm39) |
R188G |
probably damaging |
Het |
Ssxb9 |
T |
G |
X: 8,238,022 (GRCm39) |
S130R |
probably damaging |
Het |
Tg |
A |
G |
15: 66,629,729 (GRCm39) |
D470G |
probably benign |
Het |
Urb1 |
T |
C |
16: 90,573,095 (GRCm39) |
Q979R |
probably benign |
Het |
Vmn1r28 |
G |
A |
6: 58,242,702 (GRCm39) |
A182T |
probably benign |
Het |
Zfp78 |
T |
A |
7: 6,382,251 (GRCm39) |
C402S |
probably damaging |
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 |
|
IGL02449:Pds5a
|
APN |
5 |
65,776,353 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGATTAAGTGGCAATTCTGAACAGTGGT -3'
(R):5'- CATGGTGTGGCAGAAGGATCTGAAA -3'
Sequencing Primer
(F):5'- TGGTTAATTGCAGAAAAGATCTGAG -3'
(R):5'- CACTGAGATGATAACACTGCTCC -3'
|
Posted On |
2013-07-30 |