Incidental Mutation 'R6306:Pds5a'
| ID |
509645 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pds5a
|
| Ensembl Gene |
ENSMUSG00000029202 |
| Gene Name |
PDS5 cohesin associated factor A |
| Synonyms |
9030416H16Rik, E230024D05Rik |
| MMRRC Submission |
044468-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6306 (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 65813639 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 282
(V282A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144171
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031104]
[ENSMUST00000201948]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031104
AA Change: V282A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000031104
Gene: ENSMUSG00000029202
AA Change: V282A
| 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: ENSMUST00000157869
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200790
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000201948
AA Change: V282A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000144171
Gene: ENSMUSG00000029202
AA Change: V282A
| 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: ENSMUST00000202698
|
| Meta Mutation Damage Score |
0.3592 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
| Validation Efficiency |
100% (88/88) |
| 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: 88 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts7 |
G |
A |
9: 90,060,331 (GRCm39) |
|
probably null |
Het |
| Adora2a |
T |
A |
10: 75,169,238 (GRCm39) |
V234E |
probably damaging |
Het |
| Alpk1 |
T |
C |
3: 127,479,965 (GRCm39) |
D188G |
probably damaging |
Het |
| Ankdd1a |
C |
T |
9: 65,415,343 (GRCm39) |
A227T |
possibly damaging |
Het |
| Ankrd17 |
A |
G |
5: 90,392,013 (GRCm39) |
F1886L |
probably benign |
Het |
| Anks1 |
T |
G |
17: 28,269,613 (GRCm39) |
L769R |
probably damaging |
Het |
| Apol10a |
A |
G |
15: 77,373,161 (GRCm39) |
I266V |
probably benign |
Het |
| Arhgef28 |
T |
C |
13: 98,121,896 (GRCm39) |
Y556C |
probably damaging |
Het |
| Brd8 |
T |
A |
18: 34,744,304 (GRCm39) |
T175S |
probably damaging |
Het |
| Camsap2 |
C |
T |
1: 136,208,937 (GRCm39) |
V852I |
probably benign |
Het |
| Cd55b |
G |
T |
1: 130,341,803 (GRCm39) |
P278Q |
probably damaging |
Het |
| Cep290 |
T |
A |
10: 100,367,028 (GRCm39) |
S1126R |
possibly damaging |
Het |
| Cfh |
C |
T |
1: 140,030,155 (GRCm39) |
C906Y |
probably damaging |
Het |
| Chst13 |
C |
A |
6: 90,286,260 (GRCm39) |
R234L |
probably damaging |
Het |
| Clcn7 |
T |
C |
17: 25,376,502 (GRCm39) |
F611L |
probably benign |
Het |
| Cntnap1 |
A |
G |
11: 101,075,441 (GRCm39) |
D873G |
probably damaging |
Het |
| Cntnap5b |
T |
C |
1: 100,091,871 (GRCm39) |
I518T |
probably damaging |
Het |
| Col28a1 |
T |
C |
6: 8,014,969 (GRCm39) |
E812G |
probably damaging |
Het |
| Cpa1 |
T |
C |
6: 30,640,953 (GRCm39) |
I148T |
probably damaging |
Het |
| Cyp11a1 |
A |
G |
9: 57,932,383 (GRCm39) |
N232S |
probably benign |
Het |
| Dhrs13 |
A |
G |
11: 77,923,519 (GRCm39) |
D79G |
probably damaging |
Het |
| Disp1 |
T |
C |
1: 182,868,712 (GRCm39) |
E1236G |
possibly damaging |
Het |
| Dnah1 |
A |
C |
14: 31,026,544 (GRCm39) |
L778R |
probably damaging |
Het |
| Dnah14 |
CTGTG |
CTG |
1: 181,412,589 (GRCm39) |
|
probably null |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Homo |
| Dock9 |
A |
T |
14: 121,799,492 (GRCm39) |
I1729N |
probably damaging |
Het |
| Dysf |
T |
C |
6: 84,114,248 (GRCm39) |
V1192A |
possibly damaging |
Het |
| Enpp2 |
A |
G |
15: 54,762,742 (GRCm39) |
S169P |
probably damaging |
Het |
| Fam114a2 |
T |
G |
11: 57,404,972 (GRCm39) |
R43S |
probably damaging |
Het |
| Fam13a |
T |
C |
6: 58,917,239 (GRCm39) |
T546A |
probably benign |
Het |
| Fos |
A |
T |
12: 85,522,460 (GRCm39) |
D163V |
probably damaging |
Het |
| Fras1 |
T |
C |
5: 96,912,805 (GRCm39) |
Y3370H |
probably damaging |
Het |
| Fshr |
T |
C |
17: 89,507,961 (GRCm39) |
N27S |
probably null |
Het |
| Galnt6 |
A |
G |
15: 100,591,305 (GRCm39) |
S600P |
possibly damaging |
Het |
| Gars1 |
T |
A |
6: 55,032,809 (GRCm39) |
N260K |
probably damaging |
Het |
| Gpr158 |
C |
G |
2: 21,820,422 (GRCm39) |
P640A |
possibly damaging |
Het |
| Grep1 |
T |
C |
17: 23,925,124 (GRCm39) |
N495S |
possibly damaging |
Het |
| Grik3 |
A |
G |
4: 125,526,205 (GRCm39) |
D146G |
probably benign |
Het |
| Hdac4 |
T |
C |
1: 91,923,896 (GRCm39) |
T205A |
probably benign |
Het |
| Kcnq3 |
T |
C |
15: 65,876,643 (GRCm39) |
D500G |
probably benign |
Het |
| Kmt5c |
A |
G |
7: 4,749,480 (GRCm39) |
K333E |
probably benign |
Het |
| Krt81 |
A |
G |
15: 101,357,404 (GRCm39) |
S443P |
probably benign |
Het |
| M6pr |
T |
C |
6: 122,292,121 (GRCm39) |
|
probably null |
Het |
| Mccc2 |
T |
A |
13: 100,130,085 (GRCm39) |
I91L |
probably benign |
Het |
| Nip7 |
A |
G |
8: 107,785,055 (GRCm39) |
D110G |
probably damaging |
Het |
| Nol8 |
T |
A |
13: 49,829,829 (GRCm39) |
F1093I |
probably damaging |
Het |
| Nrxn1 |
T |
C |
17: 90,872,874 (GRCm39) |
T1027A |
possibly damaging |
Het |
| Ofcc1 |
T |
A |
13: 40,302,052 (GRCm39) |
M495L |
probably benign |
Het |
| Or13p10 |
A |
T |
4: 118,523,490 (GRCm39) |
M259L |
probably benign |
Het |
| Or7e178 |
A |
G |
9: 20,225,742 (GRCm39) |
M158T |
probably benign |
Het |
| Pafah1b2 |
A |
T |
9: 45,886,425 (GRCm39) |
V81D |
probably damaging |
Het |
| Pcdhga4 |
A |
T |
18: 37,818,966 (GRCm39) |
S172C |
probably damaging |
Het |
| Plat |
A |
G |
8: 23,262,282 (GRCm39) |
D102G |
possibly damaging |
Het |
| Plce1 |
C |
A |
19: 38,757,909 (GRCm39) |
Q1961K |
probably damaging |
Het |
| Plppr3 |
T |
A |
10: 79,697,566 (GRCm39) |
K444* |
probably null |
Het |
| Plscr3 |
A |
G |
11: 69,738,472 (GRCm39) |
|
probably null |
Het |
| Prtg |
A |
T |
9: 72,813,468 (GRCm39) |
T943S |
probably benign |
Het |
| Racgap1 |
A |
G |
15: 99,521,834 (GRCm39) |
F519L |
probably benign |
Het |
| Rbms2 |
A |
T |
10: 127,987,050 (GRCm39) |
|
probably null |
Het |
| Rfx7 |
A |
G |
9: 72,524,237 (GRCm39) |
T476A |
possibly damaging |
Het |
| Rnf150 |
T |
A |
8: 83,810,131 (GRCm39) |
L421Q |
possibly damaging |
Het |
| Sema3b |
A |
G |
9: 107,478,119 (GRCm39) |
L422P |
possibly damaging |
Het |
| Shank2 |
G |
A |
7: 143,963,417 (GRCm39) |
A921T |
probably benign |
Het |
| Skint3 |
A |
T |
4: 112,113,072 (GRCm39) |
E227D |
probably damaging |
Het |
| Slc25a19 |
G |
A |
11: 115,508,386 (GRCm39) |
R201C |
possibly damaging |
Het |
| Slc38a10 |
G |
T |
11: 120,038,645 (GRCm39) |
A40D |
probably damaging |
Het |
| Slc5a4b |
T |
C |
10: 75,917,185 (GRCm39) |
T284A |
probably benign |
Het |
| Smc1b |
A |
T |
15: 85,011,824 (GRCm39) |
F154I |
probably benign |
Het |
| Spry2 |
A |
T |
14: 106,130,418 (GRCm39) |
M256K |
possibly damaging |
Het |
| Stkld1 |
C |
T |
2: 26,833,899 (GRCm39) |
P129S |
probably damaging |
Het |
| Syce2 |
T |
C |
8: 85,599,371 (GRCm39) |
L13S |
possibly damaging |
Het |
| Tbc1d15 |
C |
A |
10: 115,069,148 (GRCm39) |
V74L |
possibly damaging |
Het |
| Tecpr2 |
T |
A |
12: 110,911,185 (GRCm39) |
V1074D |
probably damaging |
Het |
| Tex36 |
G |
A |
7: 133,197,054 (GRCm39) |
T21I |
probably benign |
Het |
| Ttn |
T |
G |
2: 76,554,454 (GRCm39) |
D30787A |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,622,264 (GRCm39) |
Q13710L |
probably benign |
Het |
| Usp34 |
T |
C |
11: 23,362,260 (GRCm39) |
F1569L |
possibly damaging |
Het |
| Vat1l |
C |
T |
8: 115,098,391 (GRCm39) |
A387V |
probably damaging |
Het |
| Vil1 |
G |
A |
1: 74,460,470 (GRCm39) |
G209D |
possibly damaging |
Het |
| Vmn1r113 |
G |
T |
7: 20,521,792 (GRCm39) |
D195Y |
probably damaging |
Het |
| Vmn2r69 |
A |
C |
7: 85,064,799 (GRCm39) |
I29R |
probably benign |
Het |
| Vti1b |
G |
A |
12: 79,207,323 (GRCm39) |
Q76* |
probably null |
Het |
| Zfp423 |
C |
A |
8: 88,508,662 (GRCm39) |
V540F |
possibly damaging |
Het |
| Zfp644 |
T |
C |
5: 106,785,990 (GRCm39) |
N186D |
probably damaging |
Het |
| Zfp647 |
G |
A |
15: 76,796,285 (GRCm39) |
P125L |
probably damaging |
Het |
| Zfp787 |
G |
A |
7: 6,135,360 (GRCm39) |
A297V |
probably damaging |
Het |
| Zfp827 |
G |
T |
8: 79,787,324 (GRCm39) |
Q163H |
probably damaging |
Het |
| Zfp955b |
T |
A |
17: 33,522,160 (GRCm39) |
V543E |
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 |
|
|
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 |
|
|
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'- TCCTTCCACTGTTTATCAGCAGATAAC -3'
(R):5'- TGGGTAATGCTCAATCAGTCTTTAC -3'
Sequencing Primer
(F):5'- GTTTATCAGCAGATAACAACTAGGG -3'
(R):5'- GACCTGTCTGAACACGTAT -3'
|
| Posted On |
2018-04-02 |
Incidental Mutation