Incidental Mutation 'R2209:Pds5a'
| ID |
239244 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pds5a
|
| Ensembl Gene |
ENSMUSG00000029202 |
| Gene Name |
PDS5 cohesin associated factor A |
| Synonyms |
9030416H16Rik, E230024D05Rik |
| MMRRC Submission |
040211-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2209 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
65763062-65855579 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 65785357 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 916
(C916*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144171
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031104]
[ENSMUST00000201948]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000031104
AA Change: C916*
|
| SMART Domains |
Protein: ENSMUSP00000031104
Gene: ENSMUSG00000029202
AA Change: C916*
| 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
AA Change: C916*
|
| SMART Domains |
Protein: ENSMUSP00000144171
Gene: ENSMUSG00000029202
AA Change: C916*
| 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: ENSMUST00000202107
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202910
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6430548M08Rik |
A |
G |
8: 120,884,227 (GRCm39) |
E330G |
possibly damaging |
Het |
| Apob |
A |
C |
12: 8,057,752 (GRCm39) |
D2078A |
probably benign |
Het |
| Arhgap21 |
T |
A |
2: 20,854,331 (GRCm39) |
Q1681L |
probably damaging |
Het |
| Arsb |
A |
G |
13: 93,998,609 (GRCm39) |
T306A |
probably benign |
Het |
| Brpf3 |
G |
A |
17: 29,047,394 (GRCm39) |
D1053N |
probably damaging |
Het |
| Cenpf |
A |
T |
1: 189,384,795 (GRCm39) |
I2495N |
probably benign |
Het |
| Col12a1 |
T |
C |
9: 79,599,634 (GRCm39) |
K840E |
possibly damaging |
Het |
| Cry1 |
A |
G |
10: 84,982,619 (GRCm39) |
L269P |
probably damaging |
Het |
| Cyp21a1 |
C |
A |
17: 35,021,701 (GRCm39) |
E289* |
probably null |
Het |
| Dcp2 |
A |
T |
18: 44,538,581 (GRCm39) |
K215* |
probably null |
Het |
| Dnaaf11 |
A |
G |
15: 66,321,400 (GRCm39) |
I247T |
probably benign |
Het |
| Ecm2 |
A |
G |
13: 49,683,632 (GRCm39) |
N537D |
probably damaging |
Het |
| Emid1 |
G |
A |
11: 5,085,407 (GRCm39) |
T113M |
probably benign |
Het |
| Exoc8 |
C |
T |
8: 125,622,918 (GRCm39) |
W483* |
probably null |
Het |
| Fes |
A |
T |
7: 80,030,031 (GRCm39) |
N582K |
probably damaging |
Het |
| Flnb |
G |
T |
14: 7,905,507 (GRCm38) |
E1086* |
probably null |
Het |
| Flnc |
T |
A |
6: 29,455,844 (GRCm39) |
D2058E |
possibly damaging |
Het |
| Gatb |
G |
A |
3: 85,561,112 (GRCm39) |
D543N |
probably benign |
Het |
| Gm14412 |
A |
G |
2: 177,009,229 (GRCm39) |
V9A |
probably damaging |
Het |
| Gm4884 |
T |
C |
7: 40,692,745 (GRCm39) |
V238A |
possibly damaging |
Het |
| Igfbp5 |
A |
G |
1: 72,913,096 (GRCm39) |
V68A |
possibly damaging |
Het |
| Igflr1 |
T |
A |
7: 30,267,222 (GRCm39) |
I330N |
probably damaging |
Het |
| Il1r2 |
A |
G |
1: 40,154,298 (GRCm39) |
T222A |
probably benign |
Het |
| Krt87 |
T |
C |
15: 101,330,989 (GRCm39) |
E419G |
probably benign |
Het |
| Lman2 |
A |
G |
13: 55,499,315 (GRCm39) |
S187P |
probably damaging |
Het |
| Mrpl38 |
T |
C |
11: 116,029,288 (GRCm39) |
E76G |
possibly damaging |
Het |
| Mtx3 |
A |
G |
13: 92,984,112 (GRCm39) |
I130V |
probably benign |
Het |
| Naf1 |
T |
G |
8: 67,313,188 (GRCm39) |
|
probably benign |
Het |
| Nkx2-1 |
T |
G |
12: 56,580,293 (GRCm39) |
M216L |
probably benign |
Het |
| Notch1 |
C |
A |
2: 26,350,019 (GRCm39) |
V2374L |
probably benign |
Het |
| Nrxn2 |
A |
G |
19: 6,543,037 (GRCm39) |
D1087G |
probably benign |
Het |
| Nudt8 |
T |
C |
19: 4,051,902 (GRCm39) |
F171S |
probably damaging |
Het |
| Or5an1 |
T |
G |
19: 12,261,224 (GRCm39) |
F271V |
probably benign |
Het |
| Phyhip |
A |
T |
14: 70,699,334 (GRCm39) |
N46Y |
probably damaging |
Het |
| Pomt1 |
A |
G |
2: 32,140,874 (GRCm39) |
Y502C |
possibly damaging |
Het |
| Prkcg |
A |
C |
7: 3,352,097 (GRCm39) |
|
probably benign |
Het |
| Prl8a6 |
C |
T |
13: 27,619,369 (GRCm39) |
E118K |
probably benign |
Het |
| Prpf39 |
T |
C |
12: 65,104,689 (GRCm39) |
|
probably null |
Het |
| Ptprb |
A |
G |
10: 116,205,262 (GRCm39) |
H2159R |
probably damaging |
Het |
| Ripor2 |
A |
T |
13: 24,885,595 (GRCm39) |
D571V |
probably damaging |
Het |
| Rps19 |
C |
T |
7: 24,584,552 (GRCm39) |
L34F |
probably benign |
Het |
| Rusc1 |
A |
G |
3: 88,996,128 (GRCm39) |
S145P |
probably damaging |
Het |
| Scn4a |
T |
A |
11: 106,230,051 (GRCm39) |
T586S |
probably damaging |
Het |
| Slc7a12 |
A |
G |
3: 14,546,124 (GRCm39) |
S90G |
possibly damaging |
Het |
| Specc1l |
A |
G |
10: 75,082,410 (GRCm39) |
D619G |
probably damaging |
Het |
| Src |
A |
G |
2: 157,304,710 (GRCm39) |
D143G |
probably benign |
Het |
| Sst |
T |
C |
16: 23,708,558 (GRCm39) |
N91S |
probably benign |
Het |
| Stxbp5l |
T |
A |
16: 37,036,398 (GRCm39) |
I406F |
probably damaging |
Het |
| Thsd1 |
T |
A |
8: 22,748,887 (GRCm39) |
I525N |
probably damaging |
Het |
| Ticam2 |
A |
T |
18: 46,693,467 (GRCm39) |
F207I |
probably damaging |
Het |
| Tsc22d1 |
C |
A |
14: 76,656,180 (GRCm39) |
N31K |
probably damaging |
Het |
| Tspan10 |
T |
C |
11: 120,336,989 (GRCm39) |
V253A |
probably benign |
Het |
| Ttc33 |
A |
G |
15: 5,237,924 (GRCm39) |
K99R |
possibly damaging |
Het |
| Vmn1r63 |
T |
A |
7: 5,806,212 (GRCm39) |
N140I |
probably damaging |
Het |
| Yju2b |
C |
T |
8: 84,990,498 (GRCm39) |
V45I |
probably benign |
Het |
| Zbtb25 |
A |
G |
12: 76,395,903 (GRCm39) |
*440Q |
probably null |
Het |
| Zfhx4 |
T |
A |
3: 5,461,978 (GRCm39) |
C1218S |
probably damaging |
Het |
| Zfp84 |
T |
A |
7: 29,476,607 (GRCm39) |
I433N |
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 |
|
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 |
|
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'- ACACACATGCACCTTCTTTGG -3'
(R):5'- GCACAGTGAGTTACCAACTGCC -3'
Sequencing Primer
(F):5'- GGGATGGAAACAACAATCT -3'
(R):5'- GTGAGTTACCAACTGCCAATCTC -3'
|
| Posted On |
2014-10-15 |
Incidental Mutation