Incidental Mutation 'R5178:Pds5a'
| ID |
399458 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pds5a
|
| Ensembl Gene |
ENSMUSG00000029202 |
| Gene Name |
PDS5 cohesin associated factor A |
| Synonyms |
9030416H16Rik, E230024D05Rik |
| MMRRC Submission |
042758-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5178 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
65763062-65855579 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 65821218 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 169
(T169A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144171
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031104]
[ENSMUST00000201948]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031104
AA Change: T169A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000031104
Gene: ENSMUSG00000029202
AA Change: T169A
| 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: ENSMUST00000157869
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200790
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201034
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000201948
AA Change: T169A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000144171
Gene: ENSMUSG00000029202
AA Change: T169A
| 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: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abt1 |
G |
T |
13: 23,606,819 (GRCm39) |
A94E |
possibly damaging |
Het |
| Carmil2 |
G |
T |
8: 106,423,521 (GRCm39) |
G1207V |
probably damaging |
Het |
| Cndp2 |
A |
T |
18: 84,693,153 (GRCm39) |
N202K |
probably benign |
Het |
| Cyp2c66 |
A |
G |
19: 39,159,473 (GRCm39) |
Y308C |
probably damaging |
Het |
| Dhx29 |
T |
G |
13: 113,069,134 (GRCm39) |
S155A |
possibly damaging |
Het |
| Dnah7b |
T |
G |
1: 46,397,376 (GRCm39) |
F3936V |
possibly damaging |
Het |
| Dsg1b |
G |
A |
18: 20,530,560 (GRCm39) |
G405E |
probably damaging |
Het |
| Exo5 |
A |
T |
4: 120,778,734 (GRCm39) |
|
probably null |
Het |
| Fam171b |
T |
C |
2: 83,710,331 (GRCm39) |
F668L |
probably damaging |
Het |
| Gemin5 |
A |
T |
11: 58,037,344 (GRCm39) |
S624T |
probably benign |
Het |
| Gpc2 |
C |
A |
5: 138,273,867 (GRCm39) |
V444L |
possibly damaging |
Het |
| Hephl1 |
T |
A |
9: 14,997,468 (GRCm39) |
K399N |
probably damaging |
Het |
| Lair1 |
G |
A |
7: 4,013,488 (GRCm39) |
T82I |
possibly damaging |
Het |
| Lhx1 |
G |
T |
11: 84,411,214 (GRCm39) |
A155E |
possibly damaging |
Het |
| Maip1 |
G |
A |
1: 57,454,849 (GRCm39) |
D278N |
probably benign |
Het |
| Mcm4 |
T |
A |
16: 15,453,167 (GRCm39) |
D174V |
probably benign |
Het |
| Mcph1 |
T |
A |
8: 18,657,342 (GRCm39) |
D60E |
probably damaging |
Het |
| Mmp17 |
T |
A |
5: 129,672,122 (GRCm39) |
W132R |
probably damaging |
Het |
| Or4p7 |
C |
T |
2: 88,221,819 (GRCm39) |
T76I |
possibly damaging |
Het |
| Or7e174 |
T |
A |
9: 20,012,488 (GRCm39) |
C144* |
probably null |
Het |
| Pfkm |
A |
G |
15: 98,029,396 (GRCm39) |
N697D |
probably benign |
Het |
| Pira1 |
T |
A |
7: 3,742,396 (GRCm39) |
K44* |
probably null |
Het |
| Ppwd1 |
A |
T |
13: 104,356,943 (GRCm39) |
S191T |
probably benign |
Het |
| Ranbp2 |
T |
A |
10: 58,312,607 (GRCm39) |
M1109K |
probably benign |
Het |
| Robo4 |
T |
C |
9: 37,319,256 (GRCm39) |
W535R |
probably damaging |
Het |
| Rsf1 |
A |
G |
7: 97,311,079 (GRCm39) |
D603G |
possibly damaging |
Het |
| Slc22a26 |
T |
C |
19: 7,767,540 (GRCm39) |
T289A |
possibly damaging |
Het |
| Sp2 |
A |
G |
11: 96,846,664 (GRCm39) |
F554L |
probably benign |
Het |
| Sp4 |
A |
G |
12: 118,225,624 (GRCm39) |
V580A |
possibly damaging |
Het |
| Tbc1d19 |
T |
A |
5: 54,046,667 (GRCm39) |
S413T |
possibly damaging |
Het |
| Tecta |
T |
C |
9: 42,286,481 (GRCm39) |
D725G |
probably damaging |
Het |
| Tmem200a |
T |
A |
10: 25,870,277 (GRCm39) |
Q4H |
probably benign |
Het |
| Tpx2 |
T |
A |
2: 152,717,469 (GRCm39) |
I122N |
probably benign |
Het |
| Trgc4 |
A |
G |
13: 19,528,932 (GRCm39) |
|
probably benign |
Het |
| Ube4b |
T |
C |
4: 149,427,449 (GRCm39) |
M900V |
probably damaging |
Het |
| Vmn1r87 |
G |
T |
7: 12,865,792 (GRCm39) |
A165E |
possibly damaging |
Het |
| Vmn2r95 |
A |
G |
17: 18,660,337 (GRCm39) |
T250A |
probably benign |
Het |
| Wasf1 |
G |
A |
10: 40,813,672 (GRCm39) |
R518H |
unknown |
Het |
| Zfhx2 |
A |
T |
14: 55,312,232 (GRCm39) |
F154Y |
probably benign |
Het |
| Zfp729a |
A |
G |
13: 67,785,764 (GRCm39) |
|
probably null |
Het |
| Zfp976 |
A |
G |
7: 42,261,925 (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 |
|
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'- CAATGGCAAGGACAGCTCTC -3'
(R):5'- TGATGCCACAGCCATGAATTTAAAG -3'
Sequencing Primer
(F):5'- GCTCTCAAACAACAGGGTTTC -3'
(R):5'- GAGTGTGCTTTTGTTTAACA -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation