Incidental Mutation 'R9688:Pds5a'
ID |
728970 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pds5a
|
Ensembl Gene |
ENSMUSG00000029202 |
Gene Name |
PDS5 cohesin associated factor A |
Synonyms |
9030416H16Rik, E230024D05Rik |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R9688 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
65763062-65855579 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 65812196 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Isoleucine
at position 309
(F309I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031104
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031104]
[ENSMUST00000201948]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000031104
AA Change: F309I
PolyPhen 2
Score 0.435 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000031104 Gene: ENSMUSG00000029202 AA Change: F309I
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 |
probably benign
Transcript: ENSMUST00000201948
AA Change: F309I
PolyPhen 2
Score 0.435 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000144171 Gene: ENSMUSG00000029202 AA Change: F309I
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: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
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: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700093K21Rik |
A |
G |
11: 23,469,067 (GRCm39) |
|
probably null |
Het |
Abca2 |
G |
C |
2: 25,324,459 (GRCm39) |
A272P |
possibly damaging |
Het |
Adarb1 |
T |
A |
10: 77,147,099 (GRCm39) |
D479V |
probably damaging |
Het |
Amz2 |
T |
C |
11: 109,320,765 (GRCm39) |
F162S |
probably damaging |
Het |
Ano4 |
A |
T |
10: 89,180,506 (GRCm39) |
M1K |
probably null |
Het |
Antxr1 |
G |
A |
6: 87,114,334 (GRCm39) |
R478C |
probably damaging |
Het |
Apobr |
T |
C |
7: 126,186,663 (GRCm39) |
S725P |
probably benign |
Het |
Arap2 |
A |
T |
5: 62,872,109 (GRCm39) |
D506E |
probably damaging |
Het |
Ash1l |
T |
G |
3: 88,892,024 (GRCm39) |
I1301S |
probably damaging |
Het |
Camk1g |
T |
A |
1: 193,031,029 (GRCm39) |
R305W |
probably damaging |
Het |
Ces2g |
A |
T |
8: 105,691,304 (GRCm39) |
I147F |
probably benign |
Het |
Cfap61 |
T |
C |
2: 145,878,758 (GRCm39) |
F505L |
probably damaging |
Het |
Cndp1 |
G |
C |
18: 84,655,982 (GRCm39) |
N62K |
probably benign |
Het |
Cog6 |
G |
T |
3: 52,916,528 (GRCm39) |
Q214K |
probably benign |
Het |
Depdc5 |
T |
A |
5: 33,055,276 (GRCm39) |
Y226* |
probably null |
Het |
Elp5 |
T |
A |
11: 69,861,425 (GRCm39) |
I185F |
probably damaging |
Het |
Ercc6 |
A |
C |
14: 32,297,755 (GRCm39) |
H1334P |
probably benign |
Het |
Ern1 |
T |
C |
11: 106,349,836 (GRCm39) |
T27A |
possibly damaging |
Het |
Esf1 |
A |
T |
2: 140,010,095 (GRCm39) |
D80E |
probably damaging |
Het |
Evpl |
T |
C |
11: 116,124,986 (GRCm39) |
K159E |
probably damaging |
Het |
Gbx1 |
T |
C |
5: 24,731,510 (GRCm39) |
Y102C |
probably damaging |
Het |
Gjd2 |
A |
G |
2: 113,842,109 (GRCm39) |
S123P |
probably benign |
Het |
H2-M11 |
A |
G |
17: 36,859,054 (GRCm39) |
Y198C |
probably damaging |
Het |
Hps1 |
A |
C |
19: 42,755,147 (GRCm39) |
V265G |
probably benign |
Het |
Ifna16 |
C |
A |
4: 88,594,874 (GRCm39) |
E74* |
probably null |
Het |
Inca1 |
C |
T |
11: 70,579,810 (GRCm39) |
|
probably null |
Het |
Jag2 |
A |
G |
12: 112,872,564 (GRCm39) |
V1230A |
probably benign |
Het |
Jam3 |
G |
A |
9: 27,010,204 (GRCm39) |
T260M |
probably benign |
Het |
Klhl5 |
A |
T |
5: 65,321,930 (GRCm39) |
D652V |
probably damaging |
Het |
L3mbtl1 |
A |
T |
2: 162,790,697 (GRCm39) |
I81L |
possibly damaging |
Het |
Lgalsl |
C |
T |
11: 20,779,442 (GRCm39) |
A68T |
probably benign |
Het |
Map3k14 |
T |
A |
11: 103,130,059 (GRCm39) |
D286V |
possibly damaging |
Het |
Mdn1 |
A |
G |
4: 32,745,590 (GRCm39) |
I4083V |
probably damaging |
Het |
Ms4a5 |
T |
C |
19: 11,254,058 (GRCm39) |
I136M |
possibly damaging |
Het |
Mtcl3 |
T |
C |
10: 29,072,691 (GRCm39) |
V661A |
possibly damaging |
Het |
Naa16 |
A |
T |
14: 79,573,309 (GRCm39) |
Y820* |
probably null |
Het |
Nbea |
G |
T |
3: 55,557,165 (GRCm39) |
N2537K |
probably benign |
Het |
Ncapd3 |
A |
G |
9: 26,967,349 (GRCm39) |
S562G |
probably benign |
Het |
Or5t5 |
A |
C |
2: 86,617,005 (GRCm39) |
K310N |
probably damaging |
Het |
Or6c1b |
C |
A |
10: 129,272,967 (GRCm39) |
C95* |
probably null |
Het |
Pcdhac2 |
A |
G |
18: 37,277,628 (GRCm39) |
S203G |
probably benign |
Het |
Pdzd8 |
G |
A |
19: 59,333,683 (GRCm39) |
L113F |
probably benign |
Het |
Pex12 |
T |
C |
11: 83,189,257 (GRCm39) |
Y4C |
possibly damaging |
Het |
Ppfibp2 |
A |
G |
7: 107,318,448 (GRCm39) |
D332G |
probably benign |
Het |
Psg23 |
A |
T |
7: 18,344,547 (GRCm39) |
W303R |
probably damaging |
Het |
Pyy |
T |
A |
11: 101,998,099 (GRCm39) |
D27V |
probably damaging |
Het |
Rc3h1 |
A |
G |
1: 160,770,234 (GRCm39) |
Q302R |
probably damaging |
Het |
Rhoh |
A |
G |
5: 66,049,656 (GRCm39) |
|
probably benign |
Het |
Samd9l |
A |
G |
6: 3,377,087 (GRCm39) |
M58T |
probably damaging |
Het |
Scaf11 |
A |
C |
15: 96,313,808 (GRCm39) |
H1324Q |
probably damaging |
Het |
Serinc2 |
C |
A |
4: 130,158,133 (GRCm39) |
A105S |
probably damaging |
Het |
Setx |
A |
T |
2: 29,036,328 (GRCm39) |
S938C |
probably damaging |
Het |
Sgo2a |
A |
T |
1: 58,056,737 (GRCm39) |
T974S |
probably damaging |
Het |
Sh3rf1 |
T |
C |
8: 61,679,348 (GRCm39) |
V130A |
probably benign |
Het |
Slc43a2 |
T |
C |
11: 75,434,112 (GRCm39) |
F97L |
probably damaging |
Het |
Slc9a9 |
C |
A |
9: 95,111,107 (GRCm39) |
Q642K |
probably benign |
Het |
Sox6 |
G |
T |
7: 115,076,225 (GRCm39) |
D804E |
probably benign |
Het |
Tbx15 |
A |
T |
3: 99,233,708 (GRCm39) |
R290S |
possibly damaging |
Het |
Tent4a |
A |
G |
13: 69,655,199 (GRCm39) |
L425P |
probably damaging |
Het |
Terf2 |
A |
G |
8: 107,821,543 (GRCm39) |
S176P |
probably damaging |
Het |
Ttc6 |
A |
T |
12: 57,720,602 (GRCm39) |
H956L |
possibly damaging |
Het |
Tti2 |
T |
C |
8: 31,644,279 (GRCm39) |
V292A |
probably damaging |
Het |
Vmn1r29 |
A |
T |
6: 58,284,739 (GRCm39) |
E153V |
probably benign |
Het |
Vmn1r55 |
G |
T |
7: 5,149,669 (GRCm39) |
H251Q |
probably benign |
Het |
Yeats4 |
T |
C |
10: 117,051,586 (GRCm39) |
T224A |
probably benign |
Het |
Yipf4 |
T |
A |
17: 74,806,078 (GRCm39) |
F239Y |
probably benign |
Het |
Zan |
T |
C |
5: 137,466,717 (GRCm39) |
D380G |
probably damaging |
Het |
Zbtb9 |
T |
C |
17: 27,193,894 (GRCm39) |
F433S |
probably damaging |
Het |
Zic5 |
T |
C |
14: 122,701,435 (GRCm39) |
K432R |
unknown |
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 |
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 |
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'- CAGATGTCAGCAAAGCCAATTAAG -3'
(R):5'- GCCAGGTGATCTAACATGAAATC -3'
Sequencing Primer
(F):5'- TTGGTATGGGTAGCAAAGCC -3'
(R):5'- ATGAAATCAGAAAAACATTTCCACAG -3'
|
Posted On |
2022-10-06 |