Incidental Mutation 'R7438:Pds5a'
| ID |
576722 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pds5a
|
| Ensembl Gene |
ENSMUSG00000029202 |
| Gene Name |
PDS5 cohesin associated factor A |
| Synonyms |
9030416H16Rik, E230024D05Rik |
| MMRRC Submission |
045514-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7438 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
65763062-65855579 bp(-) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
T to A
at 65809878 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031104
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031104]
[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: 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: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (88/88) |
| 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: 87 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc4 |
T |
C |
14: 118,853,858 (GRCm39) |
S425G |
probably benign |
Het |
| Adam29 |
A |
G |
8: 56,324,609 (GRCm39) |
I615T |
probably damaging |
Het |
| Arap2 |
A |
T |
5: 62,906,818 (GRCm39) |
I67N |
probably damaging |
Het |
| Asxl2 |
C |
T |
12: 3,477,108 (GRCm39) |
|
probably benign |
Het |
| Atp13a4 |
C |
T |
16: 29,260,014 (GRCm39) |
G607D |
|
Het |
| Atp2c2 |
G |
A |
8: 120,474,936 (GRCm39) |
V514M |
probably damaging |
Het |
| Baiap3 |
A |
G |
17: 25,468,082 (GRCm39) |
C311R |
possibly damaging |
Het |
| Becn1 |
A |
C |
11: 101,185,052 (GRCm39) |
S137R |
probably benign |
Het |
| C1qtnf6 |
G |
T |
15: 78,409,574 (GRCm39) |
T91K |
probably benign |
Het |
| C8a |
T |
C |
4: 104,718,626 (GRCm39) |
K110E |
probably damaging |
Het |
| Camta2 |
A |
G |
11: 70,574,714 (GRCm39) |
|
probably null |
Het |
| Capn8 |
T |
A |
1: 182,426,240 (GRCm39) |
Y192N |
probably damaging |
Het |
| Ccdc170 |
C |
T |
10: 4,508,512 (GRCm39) |
Q579* |
probably null |
Het |
| Cenpa |
G |
T |
5: 30,824,292 (GRCm39) |
|
probably benign |
Het |
| Cltc |
A |
G |
11: 86,616,054 (GRCm39) |
V404A |
probably benign |
Het |
| Cyp3a11 |
A |
T |
5: 145,802,710 (GRCm39) |
L261Q |
probably benign |
Het |
| Daw1 |
T |
A |
1: 83,170,436 (GRCm39) |
S249R |
probably benign |
Het |
| Dchs1 |
T |
A |
7: 105,404,155 (GRCm39) |
I2796F |
probably benign |
Het |
| Dis3l2 |
T |
C |
1: 86,673,222 (GRCm39) |
|
probably null |
Het |
| Dnah5 |
A |
T |
15: 28,347,098 (GRCm39) |
D2527V |
probably damaging |
Het |
| Dsg4 |
G |
A |
18: 20,599,685 (GRCm39) |
R767Q |
probably damaging |
Het |
| Edaradd |
A |
G |
13: 12,493,338 (GRCm39) |
I118T |
probably damaging |
Het |
| Fam83h |
A |
G |
15: 75,876,275 (GRCm39) |
F354S |
possibly damaging |
Het |
| Fat3 |
A |
G |
9: 15,899,778 (GRCm39) |
V3085A |
probably benign |
Het |
| Fer |
A |
G |
17: 64,440,516 (GRCm39) |
D711G |
possibly damaging |
Het |
| G6pc1 |
G |
T |
11: 101,267,503 (GRCm39) |
V318F |
probably benign |
Het |
| Gal3st1 |
C |
A |
11: 3,948,227 (GRCm39) |
H145N |
probably benign |
Het |
| Helz |
C |
T |
11: 107,552,856 (GRCm39) |
P1211S |
probably damaging |
Het |
| Herc1 |
A |
G |
9: 66,302,038 (GRCm39) |
I667V |
probably benign |
Het |
| Herc2 |
T |
A |
7: 55,753,466 (GRCm39) |
|
probably null |
Het |
| Hivep1 |
C |
T |
13: 42,308,387 (GRCm39) |
T209I |
probably damaging |
Het |
| Hsph1 |
A |
G |
5: 149,542,485 (GRCm39) |
Y678H |
probably damaging |
Het |
| Ift122 |
C |
T |
6: 115,903,263 (GRCm39) |
R1176C |
probably benign |
Het |
| Ighv1-23 |
T |
C |
12: 114,728,095 (GRCm39) |
D109G |
probably damaging |
Het |
| Itgb3 |
T |
C |
11: 104,534,403 (GRCm39) |
V420A |
possibly damaging |
Het |
| Kcnk13 |
C |
A |
12: 100,027,985 (GRCm39) |
N353K |
probably damaging |
Het |
| Kif21a |
A |
G |
15: 90,877,999 (GRCm39) |
F270L |
probably benign |
Het |
| Kit |
T |
A |
5: 75,799,660 (GRCm39) |
V464D |
probably benign |
Het |
| Klhl36 |
G |
A |
8: 120,596,914 (GRCm39) |
W205* |
probably null |
Het |
| Krt17 |
A |
G |
11: 100,149,291 (GRCm39) |
Y260H |
probably damaging |
Het |
| Lats1 |
C |
T |
10: 7,588,706 (GRCm39) |
Q1108* |
probably null |
Het |
| Lrch1 |
G |
A |
14: 74,994,477 (GRCm39) |
T709I |
possibly damaging |
Het |
| Lrrc58 |
C |
A |
16: 37,689,053 (GRCm39) |
Q66K |
probably benign |
Het |
| Mei1 |
G |
A |
15: 81,999,682 (GRCm39) |
A664T |
|
Het |
| Mtmr6 |
C |
T |
14: 60,537,753 (GRCm39) |
T546M |
probably benign |
Het |
| Ncoa3 |
T |
A |
2: 165,910,449 (GRCm39) |
F1288L |
probably damaging |
Het |
| Nwd1 |
G |
T |
8: 73,434,458 (GRCm39) |
V1352L |
probably benign |
Het |
| Or4k77 |
T |
A |
2: 111,199,707 (GRCm39) |
H243Q |
probably damaging |
Het |
| Or5ac17 |
A |
T |
16: 59,036,761 (GRCm39) |
C72S |
probably benign |
Het |
| Ovol3 |
C |
T |
7: 29,934,646 (GRCm39) |
|
probably null |
Het |
| Palb2 |
C |
A |
7: 121,716,554 (GRCm39) |
V843L |
probably damaging |
Het |
| Per1 |
A |
G |
11: 68,995,561 (GRCm39) |
S714G |
possibly damaging |
Het |
| Plch2 |
G |
A |
4: 155,084,917 (GRCm39) |
R442C |
probably damaging |
Het |
| Pon2 |
A |
T |
6: 5,289,080 (GRCm39) |
S26R |
probably benign |
Het |
| Ppp1r9a |
A |
T |
6: 5,115,378 (GRCm39) |
N834Y |
probably damaging |
Het |
| Pramel22 |
T |
C |
4: 143,382,130 (GRCm39) |
I189V |
probably damaging |
Het |
| Rbm46 |
C |
T |
3: 82,749,795 (GRCm39) |
W483* |
probably null |
Het |
| Rnd1 |
A |
T |
15: 98,571,782 (GRCm39) |
V88E |
probably damaging |
Het |
| Sbno2 |
T |
A |
10: 79,905,409 (GRCm39) |
T142S |
unknown |
Het |
| Scn9a |
C |
T |
2: 66,377,531 (GRCm39) |
V384M |
possibly damaging |
Het |
| Sertad4 |
T |
A |
1: 192,529,018 (GRCm39) |
H266L |
possibly damaging |
Het |
| Setd5 |
T |
A |
6: 113,092,043 (GRCm39) |
M288K |
possibly damaging |
Het |
| Sfxn4 |
T |
A |
19: 60,845,799 (GRCm39) |
N66Y |
probably damaging |
Het |
| Sinhcaf |
A |
G |
6: 148,834,600 (GRCm39) |
Y10H |
probably benign |
Het |
| Skint6 |
T |
A |
4: 113,095,425 (GRCm39) |
N78I |
probably damaging |
Het |
| Sltm |
G |
T |
9: 70,480,748 (GRCm39) |
G200V |
unknown |
Het |
| Smg1 |
A |
G |
7: 117,795,116 (GRCm39) |
I477T |
unknown |
Het |
| Supv3l1 |
C |
T |
10: 62,266,249 (GRCm39) |
|
probably null |
Het |
| Syne2 |
A |
G |
12: 76,062,337 (GRCm39) |
R4220G |
probably benign |
Het |
| Tbr1 |
A |
T |
2: 61,635,161 (GRCm39) |
H37L |
possibly damaging |
Het |
| Tet3 |
TGGCCCAGGCCCAGGC |
TGGCCCAGGCCCAGGCCCAGGC |
6: 83,345,211 (GRCm39) |
|
probably benign |
Het |
| Tmem231 |
G |
T |
8: 112,645,040 (GRCm39) |
S155R |
probably damaging |
Het |
| Trem3 |
A |
G |
17: 48,565,498 (GRCm39) |
*184W |
probably null |
Het |
| Trim33 |
T |
A |
3: 103,253,956 (GRCm39) |
|
probably benign |
Het |
| Tsen2 |
G |
A |
6: 115,536,943 (GRCm39) |
W233* |
probably null |
Het |
| Ttc21a |
T |
A |
9: 119,774,605 (GRCm39) |
N286K |
probably damaging |
Het |
| Tulp4 |
A |
T |
17: 6,248,983 (GRCm39) |
M194L |
probably benign |
Het |
| Ube3b |
C |
A |
5: 114,553,345 (GRCm39) |
R906S |
possibly damaging |
Het |
| Ube3b |
A |
C |
5: 114,556,687 (GRCm39) |
D1006A |
probably damaging |
Het |
| Vipas39 |
A |
T |
12: 87,288,705 (GRCm39) |
|
probably null |
Het |
| Wdr35 |
T |
A |
12: 9,072,785 (GRCm39) |
Y920N |
probably damaging |
Het |
| Zan |
T |
G |
5: 137,423,824 (GRCm39) |
I2692L |
unknown |
Het |
| Zfp142 |
C |
A |
1: 74,624,679 (GRCm39) |
E48D |
probably benign |
Het |
| Zfp598 |
T |
C |
17: 24,896,504 (GRCm39) |
Y194H |
probably damaging |
Het |
| Zfp85 |
T |
C |
13: 67,897,064 (GRCm39) |
N336S |
probably benign |
Het |
| Zfyve27 |
A |
T |
19: 42,177,959 (GRCm39) |
|
probably null |
Het |
| Zp3 |
T |
C |
5: 136,011,559 (GRCm39) |
S126P |
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 |
|
|
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 |
|
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'- CAGCTGCAACTGGTGTAACC -3'
(R):5'- GTAAAACTATGTTGTCATTTGGCC -3'
Sequencing Primer
(F):5'- TCAGTCAGTCAGTCAGTCAGTCAG -3'
(R):5'- GACAGAACTTAAAGCTTTTGG -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation