Incidental Mutation 'R5704:Pds5a'
ID |
451835 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pds5a
|
Ensembl Gene |
ENSMUSG00000029202 |
Gene Name |
PDS5 cohesin associated factor A |
Synonyms |
9030416H16Rik, E230024D05Rik |
MMRRC Submission |
043329-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5704 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
65763062-65855579 bp(-) (GRCm39) |
Type of Mutation |
splice site (6 bp from exon) |
DNA Base Change (assembly) |
A to G
at 65784422 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000144171
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031104]
[ENSMUST00000031104]
[ENSMUST00000201948]
[ENSMUST00000201948]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably null
Transcript: ENSMUST00000031104
|
SMART Domains |
Protein: ENSMUSP00000031104 Gene: ENSMUSG00000029202
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 null
Transcript: ENSMUST00000031104
|
SMART Domains |
Protein: ENSMUSP00000031104 Gene: ENSMUSG00000029202
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 null
Transcript: ENSMUST00000201948
|
SMART Domains |
Protein: ENSMUSP00000144171 Gene: ENSMUSG00000029202
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 null
Transcript: ENSMUST00000201948
|
SMART Domains |
Protein: ENSMUSP00000144171 Gene: ENSMUSG00000029202
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 |
noncoding transcript
Transcript: ENSMUST00000202910
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
Validation Efficiency |
98% (85/87) |
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: 82 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcg3 |
G |
A |
5: 105,116,036 (GRCm39) |
A266V |
probably damaging |
Het |
Acad10 |
A |
G |
5: 121,769,606 (GRCm39) |
S617P |
probably benign |
Het |
Ahi1 |
A |
C |
10: 20,950,326 (GRCm39) |
M126L |
probably benign |
Het |
Alk |
T |
C |
17: 72,910,115 (GRCm39) |
E197G |
probably damaging |
Het |
Alyref2 |
A |
T |
1: 171,331,547 (GRCm39) |
Y108F |
probably damaging |
Het |
Ankrd26 |
T |
G |
6: 118,500,843 (GRCm39) |
H876P |
probably damaging |
Het |
Arfgef1 |
T |
C |
1: 10,229,808 (GRCm39) |
T1298A |
probably damaging |
Het |
Arhgap33 |
T |
A |
7: 30,219,045 (GRCm39) |
|
probably benign |
Het |
Arhgef17 |
A |
G |
7: 100,530,548 (GRCm39) |
S1413P |
probably damaging |
Het |
Arid1a |
A |
T |
4: 133,409,050 (GRCm39) |
V1819E |
unknown |
Het |
Asprv1 |
A |
G |
6: 86,605,532 (GRCm39) |
N126S |
probably damaging |
Het |
Atg16l2 |
T |
C |
7: 100,949,418 (GRCm39) |
Y43C |
probably damaging |
Het |
Atp13a3 |
G |
T |
16: 30,140,697 (GRCm39) |
T1160K |
probably benign |
Het |
Atp1a3 |
T |
C |
7: 24,696,736 (GRCm39) |
T272A |
probably damaging |
Het |
Bpifa3 |
G |
T |
2: 153,979,562 (GRCm39) |
|
probably null |
Het |
Bri3 |
T |
C |
5: 144,192,716 (GRCm39) |
V80A |
probably damaging |
Het |
Ccdc28a |
T |
A |
10: 18,106,320 (GRCm39) |
E2V |
probably damaging |
Het |
Ccdc7a |
T |
A |
8: 129,706,577 (GRCm39) |
|
probably benign |
Het |
Cds2 |
G |
A |
2: 132,135,249 (GRCm39) |
V47I |
probably benign |
Het |
Cela2a |
G |
A |
4: 141,553,299 (GRCm39) |
|
probably benign |
Het |
Ckap5 |
A |
G |
2: 91,406,548 (GRCm39) |
Y783C |
probably damaging |
Het |
Cmtr1 |
G |
C |
17: 29,882,217 (GRCm39) |
A23P |
possibly damaging |
Het |
Crym |
C |
A |
7: 119,801,163 (GRCm39) |
|
probably null |
Het |
Def6 |
T |
G |
17: 28,447,200 (GRCm39) |
D610E |
probably benign |
Het |
Dnajc15 |
T |
C |
14: 78,063,898 (GRCm39) |
Y130C |
probably damaging |
Het |
Dock8 |
G |
A |
19: 25,151,586 (GRCm39) |
V1560I |
probably damaging |
Het |
Eif4g3 |
T |
C |
4: 137,918,003 (GRCm39) |
V1501A |
probably damaging |
Het |
Esyt1 |
A |
G |
10: 128,347,379 (GRCm39) |
S1049P |
probably damaging |
Het |
Gm4952 |
G |
T |
19: 12,604,275 (GRCm39) |
R229L |
probably damaging |
Het |
Golga5 |
T |
A |
12: 102,455,707 (GRCm39) |
H548Q |
probably benign |
Het |
Gspt1 |
A |
T |
16: 11,046,057 (GRCm39) |
D449E |
possibly damaging |
Het |
Gtf3c2 |
T |
A |
5: 31,316,454 (GRCm39) |
D732V |
probably damaging |
Het |
Hax1 |
T |
A |
3: 89,903,403 (GRCm39) |
Q168L |
probably damaging |
Het |
Hectd2 |
T |
A |
19: 36,576,291 (GRCm39) |
S91T |
possibly damaging |
Het |
Igfbp2 |
T |
A |
1: 72,891,303 (GRCm39) |
H300Q |
probably benign |
Het |
Il12rb2 |
T |
C |
6: 67,269,197 (GRCm39) |
N538S |
possibly damaging |
Het |
Insr |
G |
A |
8: 3,235,122 (GRCm39) |
P124L |
possibly damaging |
Het |
Irak3 |
C |
A |
10: 119,981,594 (GRCm39) |
R437L |
probably benign |
Het |
Jhy |
C |
T |
9: 40,808,734 (GRCm39) |
V676I |
probably damaging |
Het |
Kcns3 |
G |
A |
12: 11,142,328 (GRCm39) |
R124C |
probably benign |
Het |
Lactb |
G |
A |
9: 66,863,058 (GRCm39) |
R519* |
probably null |
Het |
Mdfic |
G |
A |
6: 15,770,291 (GRCm39) |
G94D |
probably damaging |
Het |
Mospd3 |
A |
G |
5: 137,598,613 (GRCm39) |
V42A |
possibly damaging |
Het |
Mov10 |
A |
G |
3: 104,706,912 (GRCm39) |
V666A |
probably benign |
Het |
Mucl1 |
T |
C |
15: 103,785,663 (GRCm39) |
I15V |
probably benign |
Het |
Mug1 |
T |
A |
6: 121,828,392 (GRCm39) |
V268D |
possibly damaging |
Het |
Myo5c |
T |
A |
9: 75,180,185 (GRCm39) |
S709T |
probably benign |
Het |
Nol11 |
T |
A |
11: 107,064,195 (GRCm39) |
E519V |
probably benign |
Het |
Nrp2 |
A |
T |
1: 62,824,267 (GRCm39) |
I791L |
probably benign |
Het |
Nudt19 |
A |
G |
7: 35,250,972 (GRCm39) |
Y256H |
probably benign |
Het |
Nudt8 |
C |
T |
19: 4,050,777 (GRCm39) |
R42C |
probably damaging |
Het |
Or5ac16 |
A |
G |
16: 59,022,369 (GRCm39) |
L140P |
probably damaging |
Het |
Or6c213 |
T |
A |
10: 129,574,685 (GRCm39) |
I34F |
probably benign |
Het |
Pcdhga12 |
A |
G |
18: 37,900,422 (GRCm39) |
Y418C |
probably damaging |
Het |
Pdzd2 |
T |
C |
15: 12,385,761 (GRCm39) |
D1003G |
probably benign |
Het |
Pglyrp4 |
T |
A |
3: 90,647,581 (GRCm39) |
|
probably null |
Het |
Phip |
T |
C |
9: 82,753,408 (GRCm39) |
N1779D |
probably damaging |
Het |
Postn |
G |
T |
3: 54,279,527 (GRCm39) |
C335F |
probably damaging |
Het |
Ppp4r3a |
T |
C |
12: 101,049,619 (GRCm39) |
|
probably benign |
Het |
Prrt2 |
C |
T |
7: 126,618,590 (GRCm39) |
V292M |
probably damaging |
Het |
Rpl18 |
T |
C |
7: 45,370,146 (GRCm39) |
V138A |
possibly damaging |
Het |
Rps14 |
G |
A |
18: 60,910,205 (GRCm39) |
|
probably benign |
Het |
Sbno1 |
A |
G |
5: 124,533,956 (GRCm39) |
|
probably null |
Het |
Siah2 |
T |
G |
3: 58,583,821 (GRCm39) |
K155T |
probably damaging |
Het |
Slc22a30 |
G |
A |
19: 8,321,757 (GRCm39) |
Q436* |
probably null |
Het |
Slc25a39 |
T |
A |
11: 102,294,220 (GRCm39) |
|
probably benign |
Het |
Slco1a7 |
T |
C |
6: 141,658,980 (GRCm39) |
M539V |
probably benign |
Het |
Smok2b |
T |
A |
17: 13,455,231 (GRCm39) |
C464S |
probably damaging |
Het |
Spata31 |
G |
A |
13: 65,069,855 (GRCm39) |
V668I |
probably benign |
Het |
Tbxas1 |
C |
A |
6: 38,998,067 (GRCm39) |
H212N |
probably benign |
Het |
Tenm1 |
A |
G |
X: 42,163,572 (GRCm39) |
V107A |
possibly damaging |
Het |
Thada |
C |
T |
17: 84,538,329 (GRCm39) |
A1560T |
probably benign |
Het |
Tmem241 |
G |
C |
18: 12,197,263 (GRCm39) |
F65L |
probably damaging |
Het |
Ttc16 |
C |
G |
2: 32,659,137 (GRCm39) |
E321Q |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,748,929 (GRCm39) |
L4040H |
possibly damaging |
Het |
Tyw1 |
G |
A |
5: 130,310,863 (GRCm39) |
W437* |
probably null |
Het |
Unc79 |
T |
A |
12: 102,968,202 (GRCm39) |
Y143N |
probably damaging |
Het |
Urb2 |
C |
T |
8: 124,764,921 (GRCm39) |
R1310W |
probably damaging |
Het |
Vmn2r4 |
T |
C |
3: 64,317,370 (GRCm39) |
I34V |
probably benign |
Het |
Zfp513 |
C |
T |
5: 31,358,010 (GRCm39) |
C121Y |
possibly damaging |
Het |
Zfp606 |
T |
G |
7: 12,227,456 (GRCm39) |
W468G |
probably damaging |
Het |
Zfyve16 |
C |
T |
13: 92,640,979 (GRCm39) |
|
probably null |
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 |
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'- CCATGAGGAGAAATTTTCATCAGTT -3'
(R):5'- GTGCTGTGTAGTAGCCAACTA -3'
Sequencing Primer
(F):5'- GAGGGCTAAGAATAGTTCTG -3'
(R):5'- AGTAGCCAACTATTAATAGCTAAGGG -3'
|
Posted On |
2017-01-03 |