Incidental Mutation 'R5940:Pds5a'
ID |
462483 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pds5a
|
Ensembl Gene |
ENSMUSG00000029202 |
Gene Name |
PDS5 cohesin associated factor A |
Synonyms |
9030416H16Rik, E230024D05Rik |
MMRRC Submission |
044132-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5940 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
65763062-65855579 bp(-) (GRCm39) |
Type of Mutation |
intron |
DNA Base Change (assembly) |
A to G
at 65801328 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000144171
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031104]
[ENSMUST00000201948]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
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: ENSMUST00000200790
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201109
|
Predicted Effect |
probably benign
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 |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.0%
|
Validation Efficiency |
96% (88/92) |
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: 79 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3425401B19Rik |
T |
C |
14: 32,384,645 (GRCm39) |
Y440C |
possibly damaging |
Het |
Aasdh |
G |
T |
5: 77,030,745 (GRCm39) |
S618R |
probably benign |
Het |
Alpk1 |
T |
G |
3: 127,464,595 (GRCm39) |
T1228P |
probably benign |
Het |
Ank3 |
T |
C |
10: 69,756,316 (GRCm39) |
V850A |
probably benign |
Het |
Apeh |
A |
T |
9: 107,969,098 (GRCm39) |
|
probably null |
Het |
Ash1l |
C |
T |
3: 88,891,343 (GRCm39) |
T1074I |
probably damaging |
Het |
C3 |
G |
A |
17: 57,517,244 (GRCm39) |
S1297F |
possibly damaging |
Het |
Cchcr1 |
G |
A |
17: 35,835,890 (GRCm39) |
R284Q |
probably damaging |
Het |
Cd93 |
A |
T |
2: 148,284,152 (GRCm39) |
I398N |
probably benign |
Het |
Cdcp3 |
A |
T |
7: 130,839,992 (GRCm39) |
D638V |
probably damaging |
Het |
Chrd |
G |
T |
16: 20,553,336 (GRCm39) |
R226L |
probably null |
Het |
Clvs1 |
A |
T |
4: 9,449,443 (GRCm39) |
N344I |
possibly damaging |
Het |
Cyp4v3 |
A |
T |
8: 45,774,821 (GRCm39) |
I111N |
probably damaging |
Het |
Cysltr2 |
T |
A |
14: 73,267,389 (GRCm39) |
Y107F |
probably damaging |
Het |
Cysltr2 |
T |
C |
14: 73,266,931 (GRCm39) |
K260E |
probably benign |
Het |
Czib |
A |
G |
4: 107,750,485 (GRCm39) |
|
probably benign |
Het |
Defb47 |
A |
T |
14: 63,238,359 (GRCm39) |
E28D |
probably benign |
Het |
Dnajc30 |
T |
A |
5: 135,093,413 (GRCm39) |
Y103* |
probably null |
Het |
Drap1 |
T |
C |
19: 5,473,028 (GRCm39) |
T160A |
probably benign |
Het |
Dsp |
A |
G |
13: 38,380,002 (GRCm39) |
E2249G |
possibly damaging |
Het |
E2f8 |
T |
A |
7: 48,520,825 (GRCm39) |
I499F |
probably benign |
Het |
Ebf1 |
T |
A |
11: 44,512,048 (GRCm39) |
Y116N |
probably damaging |
Het |
Ecrg4 |
C |
T |
1: 43,776,401 (GRCm39) |
R41* |
probably null |
Het |
Ect2 |
C |
A |
3: 27,169,614 (GRCm39) |
E746D |
probably benign |
Het |
Enpep |
T |
A |
3: 129,106,227 (GRCm39) |
Y333F |
probably damaging |
Het |
Fat4 |
T |
C |
3: 38,943,798 (GRCm39) |
V897A |
probably benign |
Het |
Gja3 |
T |
A |
14: 57,273,317 (GRCm39) |
S352C |
probably damaging |
Het |
Gpr153 |
C |
A |
4: 152,367,832 (GRCm39) |
P561Q |
probably benign |
Het |
Hlcs |
T |
C |
16: 93,935,571 (GRCm39) |
M574V |
probably damaging |
Het |
Hmcn1 |
A |
G |
1: 150,532,973 (GRCm39) |
V3070A |
probably benign |
Het |
Hsd3b2 |
G |
T |
3: 98,619,287 (GRCm39) |
N219K |
probably benign |
Het |
Htra3 |
T |
C |
5: 35,810,324 (GRCm39) |
I453V |
possibly damaging |
Het |
Klrc1 |
A |
T |
6: 129,651,898 (GRCm39) |
M220K |
possibly damaging |
Het |
Kntc1 |
T |
G |
5: 123,924,258 (GRCm39) |
I1048S |
probably benign |
Het |
Lrrc37 |
T |
C |
11: 103,504,712 (GRCm39) |
S243G |
probably benign |
Het |
Macf1 |
T |
A |
4: 123,326,674 (GRCm39) |
D2822V |
probably damaging |
Het |
Mcu |
T |
A |
10: 59,292,554 (GRCm39) |
I42F |
possibly damaging |
Het |
Mkln1 |
T |
A |
6: 31,466,307 (GRCm39) |
D521E |
probably damaging |
Het |
Ms4a13 |
T |
C |
19: 11,170,330 (GRCm39) |
N5D |
possibly damaging |
Het |
Msh3 |
T |
G |
13: 92,386,351 (GRCm39) |
N838T |
probably damaging |
Het |
Msl2 |
T |
A |
9: 100,978,290 (GRCm39) |
C221* |
probably null |
Het |
Ncapd2 |
A |
G |
6: 125,145,832 (GRCm39) |
S1310P |
probably benign |
Het |
Ncoa6 |
A |
T |
2: 155,257,785 (GRCm39) |
M586K |
probably damaging |
Het |
Ndel1 |
C |
T |
11: 68,713,397 (GRCm39) |
|
probably benign |
Het |
Ndst4 |
T |
C |
3: 125,355,068 (GRCm39) |
|
probably benign |
Het |
Nes |
T |
G |
3: 87,883,259 (GRCm39) |
V506G |
probably damaging |
Het |
Nrg1 |
T |
C |
8: 32,339,372 (GRCm39) |
K200E |
probably damaging |
Het |
Nt5c1b |
A |
G |
12: 10,425,515 (GRCm39) |
K295E |
probably damaging |
Het |
Or4f54 |
G |
A |
2: 111,122,729 (GRCm39) |
V39M |
possibly damaging |
Het |
Or5b123 |
T |
A |
19: 13,596,517 (GRCm39) |
|
probably null |
Het |
Or6s1 |
T |
A |
14: 51,308,179 (GRCm39) |
I224L |
probably damaging |
Het |
Or8b4 |
C |
T |
9: 37,830,733 (GRCm39) |
T260I |
probably damaging |
Het |
Or8g51 |
G |
T |
9: 38,609,007 (GRCm39) |
Y218* |
probably null |
Het |
Or8k38 |
A |
T |
2: 86,488,394 (GRCm39) |
M136K |
probably damaging |
Het |
Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
Pde1a |
A |
G |
2: 79,718,183 (GRCm39) |
|
probably null |
Het |
Plbd1 |
A |
T |
6: 136,590,719 (GRCm39) |
|
probably benign |
Het |
Plod2 |
T |
A |
9: 92,473,450 (GRCm39) |
V292E |
probably benign |
Het |
Polg |
A |
G |
7: 79,103,819 (GRCm39) |
V879A |
possibly damaging |
Het |
Ppargc1a |
C |
T |
5: 51,631,253 (GRCm39) |
A459T |
probably damaging |
Het |
Prorp |
T |
A |
12: 55,351,659 (GRCm39) |
W323R |
probably damaging |
Het |
Psip1 |
T |
C |
4: 83,394,559 (GRCm39) |
E83G |
probably damaging |
Het |
Rhbdf1 |
T |
C |
11: 32,159,847 (GRCm39) |
D843G |
probably benign |
Het |
Rnpepl1 |
G |
T |
1: 92,845,434 (GRCm39) |
C451F |
probably damaging |
Het |
Rrp1 |
T |
C |
10: 78,241,249 (GRCm39) |
D206G |
probably damaging |
Het |
Setbp1 |
A |
T |
18: 78,798,703 (GRCm39) |
D1492E |
probably damaging |
Het |
Sh3bp5 |
C |
A |
14: 31,099,452 (GRCm39) |
R265L |
probably benign |
Het |
Slc16a6 |
C |
T |
11: 109,364,022 (GRCm39) |
|
probably benign |
Homo |
Slc7a6os |
A |
G |
8: 106,937,437 (GRCm39) |
S37P |
probably damaging |
Het |
Tenm4 |
T |
A |
7: 96,495,102 (GRCm39) |
S1140T |
probably damaging |
Het |
Thoc6 |
C |
A |
17: 23,889,315 (GRCm39) |
R115L |
probably benign |
Het |
Tmem63c |
C |
T |
12: 87,121,946 (GRCm39) |
H385Y |
probably benign |
Het |
Trpm8 |
G |
T |
1: 88,279,137 (GRCm39) |
E649* |
probably null |
Het |
Usf1 |
A |
G |
1: 171,245,347 (GRCm39) |
E253G |
possibly damaging |
Het |
Vps13d |
T |
C |
4: 144,801,545 (GRCm39) |
T443A |
probably benign |
Het |
Wdr86 |
T |
C |
5: 24,927,660 (GRCm39) |
Y93C |
probably damaging |
Het |
Zfp597 |
A |
T |
16: 3,683,685 (GRCm39) |
I357N |
probably damaging |
Het |
Zfp709 |
A |
G |
8: 72,644,064 (GRCm39) |
I497V |
possibly damaging |
Het |
Zxdc |
T |
C |
6: 90,347,307 (GRCm39) |
S223P |
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 |
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 |
|
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'- AAGAATTAGTGAGTGCTATGTGCG -3'
(R):5'- AGTGCTTGCTATAATCAGTGCC -3'
Sequencing Primer
(F):5'- GCTATGTGCGGATTTTTCAAATTAGC -3'
(R):5'- GCTTGCTATAATCAGTGCCTAAAGC -3'
|
Posted On |
2017-02-28 |