Incidental Mutation 'R9074:Pds5a'
| ID |
689659 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pds5a
|
| Ensembl Gene |
ENSMUSG00000029202 |
| Gene Name |
PDS5 cohesin associated factor A |
| Synonyms |
9030416H16Rik, E230024D05Rik |
| MMRRC Submission |
068895-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9074 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
65763062-65855579 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 65804479 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 527
(S527P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031104
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031104]
[ENSMUST00000201948]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000031104
AA Change: S527P
PolyPhen 2
Score 0.860 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000031104
Gene: ENSMUSG00000029202
AA Change: S527P
| 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 |
possibly damaging
Transcript: ENSMUST00000201948
AA Change: S527P
PolyPhen 2
Score 0.860 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000144171
Gene: ENSMUSG00000029202
AA Change: S527P
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
98% (63/64) |
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg5 |
A |
T |
17: 84,972,257 (GRCm39) |
|
silent |
Het |
| Ackr2 |
T |
A |
9: 121,737,729 (GRCm39) |
C35S |
probably damaging |
Het |
| Adcy8 |
T |
A |
15: 64,573,940 (GRCm39) |
K1054N |
probably damaging |
Het |
| Adgrf1 |
A |
T |
17: 43,601,879 (GRCm39) |
|
probably benign |
Het |
| Akap9 |
T |
A |
5: 4,127,959 (GRCm39) |
I3765K |
probably benign |
Het |
| Brwd1 |
A |
T |
16: 95,824,610 (GRCm39) |
F1219I |
|
Het |
| Btc |
A |
T |
5: 91,508,603 (GRCm39) |
|
probably null |
Het |
| Cd163 |
C |
T |
6: 124,285,947 (GRCm39) |
R166* |
probably null |
Het |
| Cfap52 |
G |
A |
11: 67,822,656 (GRCm39) |
S405L |
probably benign |
Het |
| Clcn2 |
A |
G |
16: 20,531,414 (GRCm39) |
L210P |
possibly damaging |
Het |
| Creb3l3 |
T |
A |
10: 80,924,452 (GRCm39) |
|
probably null |
Het |
| Csn1s2a |
A |
T |
5: 87,934,458 (GRCm39) |
I144F |
probably benign |
Het |
| Dedd |
G |
T |
1: 171,167,888 (GRCm39) |
|
probably benign |
Het |
| Eef2k |
C |
T |
7: 120,491,124 (GRCm39) |
R537C |
probably damaging |
Het |
| Epas1 |
A |
T |
17: 87,135,267 (GRCm39) |
R633S |
probably benign |
Het |
| Fmn2 |
C |
A |
1: 174,436,198 (GRCm39) |
T723N |
unknown |
Het |
| Frmd4a |
G |
T |
2: 4,608,765 (GRCm39) |
G878W |
probably damaging |
Het |
| Ggcx |
T |
G |
6: 72,402,924 (GRCm39) |
F294C |
probably damaging |
Het |
| Ghr |
G |
A |
15: 3,370,470 (GRCm39) |
P132S |
possibly damaging |
Het |
| Gm15446 |
A |
T |
5: 110,091,299 (GRCm39) |
H517L |
probably damaging |
Het |
| Gm5862 |
T |
C |
5: 26,226,624 (GRCm39) |
T93A |
probably damaging |
Het |
| Gnb1l |
T |
A |
16: 18,359,745 (GRCm39) |
I50N |
probably damaging |
Het |
| Greb1l |
A |
G |
18: 10,532,797 (GRCm39) |
Y897C |
probably damaging |
Het |
| Greb1l |
T |
C |
18: 10,558,795 (GRCm39) |
C1817R |
probably damaging |
Het |
| Ier5 |
C |
A |
1: 154,974,275 (GRCm39) |
W301L |
probably damaging |
Het |
| Irf2bp2 |
A |
G |
8: 127,318,456 (GRCm39) |
L370P |
probably benign |
Het |
| Itga9 |
T |
A |
9: 118,636,344 (GRCm39) |
N677K |
probably damaging |
Het |
| Itgb7 |
G |
T |
15: 102,132,797 (GRCm39) |
R172S |
|
Het |
| Kdm6b |
A |
T |
11: 69,292,977 (GRCm39) |
C1266* |
probably null |
Het |
| Kmt2c |
A |
T |
5: 25,489,343 (GRCm39) |
V4532E |
probably damaging |
Het |
| Kprp |
A |
C |
3: 92,732,226 (GRCm39) |
F275V |
probably damaging |
Het |
| Lrrc4 |
C |
A |
6: 28,831,595 (GRCm39) |
V7L |
probably damaging |
Het |
| Map3k21 |
G |
A |
8: 126,664,050 (GRCm39) |
R537H |
probably damaging |
Het |
| Mchr1 |
T |
G |
15: 81,119,980 (GRCm39) |
D2E |
probably benign |
Het |
| Mixl1 |
T |
C |
1: 180,522,245 (GRCm39) |
D212G |
probably damaging |
Het |
| Mup2 |
T |
C |
4: 60,139,717 (GRCm39) |
T24A |
probably benign |
Het |
| Naip2 |
C |
T |
13: 100,291,459 (GRCm39) |
D1160N |
probably benign |
Het |
| Naip2 |
T |
C |
13: 100,291,468 (GRCm39) |
S1157G |
probably benign |
Het |
| Naip5 |
T |
C |
13: 100,358,264 (GRCm39) |
K991E |
possibly damaging |
Het |
| Ndufb11b |
T |
A |
15: 81,865,011 (GRCm39) |
M84K |
probably damaging |
Het |
| Nfe2l1 |
G |
A |
11: 96,710,573 (GRCm39) |
A552V |
possibly damaging |
Het |
| Or2p2 |
C |
T |
13: 21,256,784 (GRCm39) |
R229H |
possibly damaging |
Het |
| Or51r1 |
T |
G |
7: 102,228,433 (GRCm39) |
S244A |
probably damaging |
Het |
| Or56b1 |
C |
T |
7: 104,285,291 (GRCm39) |
R137C |
probably benign |
Het |
| Peg10 |
T |
TCCC |
6: 4,756,451 (GRCm39) |
|
probably benign |
Het |
| Pgc |
T |
A |
17: 48,043,351 (GRCm39) |
V233E |
probably damaging |
Het |
| Pias1 |
T |
C |
9: 62,888,164 (GRCm39) |
|
probably benign |
Het |
| Pign |
A |
T |
1: 105,556,246 (GRCm39) |
W72R |
unknown |
Het |
| Pmm1 |
C |
T |
15: 81,839,896 (GRCm39) |
R143H |
probably damaging |
Het |
| Proc |
A |
G |
18: 32,268,950 (GRCm39) |
S12P |
possibly damaging |
Het |
| Rida |
T |
A |
15: 34,488,823 (GRCm39) |
Q23L |
probably damaging |
Het |
| Slc22a8 |
A |
G |
19: 8,587,025 (GRCm39) |
E406G |
possibly damaging |
Het |
| Slc2a7 |
A |
G |
4: 150,242,625 (GRCm39) |
T238A |
probably benign |
Het |
| Spata31h1 |
T |
A |
10: 82,123,894 (GRCm39) |
S3039C |
possibly damaging |
Het |
| Spp1 |
A |
G |
5: 104,588,167 (GRCm39) |
I190V |
probably benign |
Het |
| Srgap1 |
T |
C |
10: 121,628,257 (GRCm39) |
D882G |
probably damaging |
Het |
| Ssrp1 |
T |
A |
2: 84,875,811 (GRCm39) |
W557R |
probably damaging |
Het |
| Strn |
C |
G |
17: 79,043,790 (GRCm39) |
A43P |
probably benign |
Het |
| Taf6 |
A |
C |
5: 138,180,465 (GRCm39) |
Y300D |
probably damaging |
Het |
| Tesk2 |
A |
G |
4: 116,658,933 (GRCm39) |
Y270C |
probably damaging |
Het |
| Tnnt3 |
T |
A |
7: 142,065,823 (GRCm39) |
D153E |
probably benign |
Het |
| Ubl7 |
A |
G |
9: 57,826,637 (GRCm39) |
H117R |
possibly damaging |
Het |
| Vcan |
T |
A |
13: 89,839,146 (GRCm39) |
T2133S |
possibly damaging |
Het |
| Vrk2 |
T |
A |
11: 26,543,917 (GRCm39) |
|
probably benign |
Het |
| Wdr72 |
A |
C |
9: 74,125,902 (GRCm39) |
Q1011P |
possibly damaging |
Het |
| Wls |
T |
A |
3: 159,615,403 (GRCm39) |
I306N |
possibly damaging |
Het |
| Zfp654 |
A |
G |
16: 64,611,496 (GRCm39) |
S283P |
probably damaging |
Het |
| Zfp956 |
C |
T |
6: 47,939,462 (GRCm39) |
T170I |
possibly 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 |
|
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 |
|
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'- TCTGACGAATGGCACTGATAAAC -3'
(R):5'- AGCTTTCAGTGCCATCCTGC -3'
Sequencing Primer
(F):5'- CTTGCTGCTCTTAGAAAGGATCCAG -3'
(R):5'- GCCATCCTGCTGCCATCAG -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation