Incidental Mutation 'R7715:Pds5a'
| ID |
594839 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pds5a
|
| Ensembl Gene |
ENSMUSG00000029202 |
| Gene Name |
PDS5 cohesin associated factor A |
| Synonyms |
9030416H16Rik, E230024D05Rik |
| MMRRC Submission |
045773-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7715 (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 65795904 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 662
(L662P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031104
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031104]
[ENSMUST00000201948]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000031104
AA Change: L662P
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000031104
Gene: ENSMUSG00000029202
AA Change: L662P
| 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 |
possibly damaging
Transcript: ENSMUST00000201948
AA Change: L662P
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000144171
Gene: ENSMUSG00000029202
AA Change: L662P
| 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: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
99% (67/68) |
| 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 |
|---|
| 1700019A02Rik |
A |
G |
1: 53,221,659 (GRCm39) |
F57L |
probably benign |
Het |
| Agl |
C |
T |
3: 116,551,905 (GRCm39) |
R563Q |
|
Het |
| Ahctf1 |
A |
G |
1: 179,598,413 (GRCm39) |
M919T |
probably benign |
Het |
| Ano4 |
A |
T |
10: 88,831,173 (GRCm39) |
N483K |
probably damaging |
Het |
| Armt1 |
A |
G |
10: 4,400,751 (GRCm39) |
K166R |
probably benign |
Het |
| Asgr2 |
T |
C |
11: 69,987,721 (GRCm39) |
V73A |
probably benign |
Het |
| Atp6v0a2 |
A |
C |
5: 124,791,262 (GRCm39) |
T564P |
probably damaging |
Het |
| B3gntl1 |
T |
C |
11: 121,530,622 (GRCm39) |
T150A |
possibly damaging |
Het |
| Bach1 |
A |
G |
16: 87,516,859 (GRCm39) |
I467V |
possibly damaging |
Het |
| Bicd1 |
A |
G |
6: 149,414,471 (GRCm39) |
K395E |
probably benign |
Het |
| Cadps |
G |
A |
14: 12,457,762 (GRCm38) |
P1040S |
probably benign |
Het |
| Calcoco2 |
TCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC |
TCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC |
11: 95,990,862 (GRCm39) |
|
probably null |
Het |
| Canx |
A |
G |
11: 50,201,631 (GRCm39) |
S80P |
probably benign |
Het |
| Ccdc149 |
T |
A |
5: 52,561,533 (GRCm39) |
|
probably null |
Het |
| Cd34 |
A |
T |
1: 194,631,624 (GRCm39) |
N87Y |
probably damaging |
Het |
| Cdh11 |
T |
A |
8: 103,391,346 (GRCm39) |
I297F |
possibly damaging |
Het |
| Cfap251 |
A |
G |
5: 123,400,197 (GRCm39) |
N439D |
probably damaging |
Het |
| Cip2a |
A |
T |
16: 48,834,347 (GRCm39) |
Q643L |
probably damaging |
Het |
| Col14a1 |
A |
G |
15: 55,351,379 (GRCm39) |
I1569V |
unknown |
Het |
| Cxcr4 |
C |
T |
1: 128,517,479 (GRCm39) |
V61M |
probably damaging |
Het |
| Cyp20a1 |
G |
A |
1: 60,411,764 (GRCm39) |
V271M |
probably benign |
Het |
| Cyp2b23 |
T |
C |
7: 26,381,120 (GRCm39) |
Y79C |
probably benign |
Het |
| Daam1 |
A |
G |
12: 72,035,675 (GRCm39) |
K957E |
probably benign |
Het |
| Dip2c |
A |
G |
13: 9,664,427 (GRCm39) |
K947E |
probably damaging |
Het |
| Efcab12 |
T |
C |
6: 115,800,504 (GRCm39) |
K173R |
possibly damaging |
Het |
| Emc1 |
C |
T |
4: 139,098,934 (GRCm39) |
R806C |
probably damaging |
Het |
| Epg5 |
G |
A |
18: 78,011,801 (GRCm39) |
R816Q |
probably damaging |
Het |
| Faf1 |
G |
T |
4: 109,568,011 (GRCm39) |
D24Y |
probably damaging |
Het |
| Fchsd1 |
A |
T |
18: 38,099,695 (GRCm39) |
|
probably null |
Het |
| Foxp1 |
T |
C |
6: 98,922,621 (GRCm39) |
T404A |
unknown |
Het |
| Fra10ac1 |
T |
C |
19: 38,178,286 (GRCm39) |
E299G |
probably damaging |
Het |
| Gon4l |
A |
G |
3: 88,815,313 (GRCm39) |
T1959A |
probably benign |
Het |
| Gpam |
A |
C |
19: 55,077,353 (GRCm39) |
V146G |
probably benign |
Het |
| Hephl1 |
T |
A |
9: 14,972,081 (GRCm39) |
D953V |
probably benign |
Het |
| Kcnc2 |
G |
T |
10: 112,107,845 (GRCm39) |
E79* |
probably null |
Het |
| Kcnj12 |
T |
A |
11: 60,957,778 (GRCm39) |
|
probably null |
Het |
| Llgl2 |
A |
T |
11: 115,740,554 (GRCm39) |
T417S |
probably benign |
Het |
| Lrrc17 |
A |
T |
5: 21,766,078 (GRCm39) |
N187Y |
probably damaging |
Het |
| Macc1 |
C |
T |
12: 119,409,991 (GRCm39) |
A253V |
possibly damaging |
Het |
| Mark1 |
A |
G |
1: 184,639,431 (GRCm39) |
S529P |
probably damaging |
Het |
| Mfsd6l |
T |
C |
11: 68,448,376 (GRCm39) |
L409P |
probably damaging |
Het |
| Nek1 |
A |
G |
8: 61,459,794 (GRCm39) |
E34G |
probably damaging |
Het |
| Nlrp3 |
T |
A |
11: 59,433,829 (GRCm39) |
|
probably null |
Het |
| Obsl1 |
A |
T |
1: 75,478,680 (GRCm39) |
V686D |
probably damaging |
Het |
| Or2l5 |
C |
T |
16: 19,333,480 (GRCm39) |
R302K |
probably benign |
Het |
| Or55b10 |
T |
A |
7: 102,143,668 (GRCm39) |
M105L |
possibly damaging |
Het |
| Or7h8 |
G |
A |
9: 20,123,731 (GRCm39) |
G29R |
probably damaging |
Het |
| Or7h8 |
G |
A |
9: 20,123,732 (GRCm39) |
G29E |
probably benign |
Het |
| Or8c15 |
T |
A |
9: 38,120,775 (GRCm39) |
M140K |
probably benign |
Het |
| Or8g18 |
A |
T |
9: 39,149,174 (GRCm39) |
L182H |
probably damaging |
Het |
| Ostm1 |
G |
A |
10: 42,559,183 (GRCm39) |
G148R |
probably benign |
Het |
| Oxsr1 |
A |
G |
9: 119,071,822 (GRCm39) |
S470P |
probably damaging |
Het |
| Pacs1 |
C |
T |
19: 5,191,709 (GRCm39) |
M709I |
probably benign |
Het |
| Pan2 |
A |
G |
10: 128,153,592 (GRCm39) |
M963V |
probably benign |
Het |
| Rsf1 |
GGCGGCGGC |
GGCGGCGGCCGCGGCGGC |
7: 97,229,119 (GRCm39) |
|
probably benign |
Het |
| Sh2b2 |
T |
C |
5: 136,247,889 (GRCm39) |
N554S |
probably benign |
Het |
| Sh3gl2 |
T |
A |
4: 85,317,077 (GRCm39) |
|
probably null |
Het |
| Slc24a4 |
A |
G |
12: 102,185,219 (GRCm39) |
M93V |
possibly damaging |
Het |
| Sohlh1 |
A |
G |
2: 25,734,640 (GRCm39) |
S218P |
possibly damaging |
Het |
| Spast |
T |
A |
17: 74,675,921 (GRCm39) |
N321K |
probably benign |
Het |
| Srcap |
T |
G |
7: 127,148,460 (GRCm39) |
I1936S |
probably damaging |
Het |
| Themis |
G |
A |
10: 28,739,305 (GRCm39) |
V592I |
probably benign |
Het |
| Tnfrsf1a |
C |
T |
6: 125,338,377 (GRCm39) |
T296I |
possibly damaging |
Het |
| Ttk |
A |
G |
9: 83,747,206 (GRCm39) |
T682A |
probably benign |
Het |
| Virma |
C |
T |
4: 11,549,682 (GRCm39) |
R1807W |
probably damaging |
Het |
| Virma |
A |
G |
4: 11,513,016 (GRCm39) |
|
probably null |
Het |
| Vmn2r101 |
T |
A |
17: 19,832,177 (GRCm39) |
D724E |
probably damaging |
Het |
| Vmn2r11 |
A |
G |
5: 109,195,307 (GRCm39) |
V673A |
probably damaging |
Het |
| Wbp4 |
C |
T |
14: 79,703,734 (GRCm39) |
S271N |
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 |
|
|
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 |
|
|
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'- GGGGTACGTTCCAGTCTCTTTC -3'
(R):5'- AGACGTTGTCTTTGACCATAGTC -3'
Sequencing Primer
(F):5'- CAGCCTGGTCTATAAAGTGAGTTCC -3'
(R):5'- GACCATAGTCTTTTTACACTCTCTG -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation