Incidental Mutation 'R9222:Pds5a'
| ID |
699524 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pds5a
|
| Ensembl Gene |
ENSMUSG00000029202 |
| Gene Name |
PDS5 cohesin associated factor A |
| Synonyms |
9030416H16Rik, E230024D05Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9222 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
65763062-65855579 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 65805281 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Tyrosine
at position 522
(H522Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031104
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031104]
[ENSMUST00000201948]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031104
AA Change: H522Y
PolyPhen 2
Score 0.423 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000031104
Gene: ENSMUSG00000029202
AA Change: H522Y
| 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 benign
Transcript: ENSMUST00000201948
AA Change: H522Y
PolyPhen 2
Score 0.423 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000144171
Gene: ENSMUSG00000029202
AA Change: H522Y
| 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: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
100% (62/62) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700123K08Rik |
C |
A |
5: 138,560,562 (GRCm39) |
V278F |
unknown |
Het |
| Acte1 |
G |
T |
7: 143,434,902 (GRCm39) |
|
probably null |
Het |
| Actr5 |
T |
A |
2: 158,473,423 (GRCm39) |
N272K |
probably damaging |
Het |
| Afg3l2 |
T |
C |
18: 67,567,257 (GRCm39) |
T198A |
probably benign |
Het |
| Aloxe3 |
A |
G |
11: 69,023,903 (GRCm39) |
Y278C |
probably damaging |
Het |
| Apobec3 |
A |
G |
15: 79,783,270 (GRCm39) |
I226V |
|
Het |
| Arap2 |
T |
A |
5: 62,828,421 (GRCm39) |
T917S |
possibly damaging |
Het |
| Arhgap40 |
T |
C |
2: 158,388,692 (GRCm39) |
L545P |
probably damaging |
Het |
| Atp13a5 |
A |
T |
16: 29,133,472 (GRCm39) |
L438H |
probably damaging |
Het |
| Ccdc191 |
T |
A |
16: 43,725,831 (GRCm39) |
Y105N |
probably damaging |
Het |
| Ccdc7a |
A |
T |
8: 129,525,610 (GRCm39) |
F1406L |
unknown |
Het |
| Celsr1 |
A |
G |
15: 85,815,471 (GRCm39) |
V1848A |
possibly damaging |
Het |
| Chn1 |
T |
A |
2: 73,443,499 (GRCm39) |
N417I |
probably damaging |
Het |
| Cmya5 |
T |
C |
13: 93,230,579 (GRCm39) |
K1503R |
probably benign |
Het |
| Cryz |
T |
C |
3: 154,317,203 (GRCm39) |
F141L |
probably benign |
Het |
| Dmac2l |
T |
C |
12: 69,788,554 (GRCm39) |
V151A |
probably damaging |
Het |
| Dpep2 |
T |
A |
8: 106,723,016 (GRCm39) |
H13L |
|
Het |
| Eif2b5 |
C |
T |
16: 20,321,382 (GRCm39) |
R312* |
probably null |
Het |
| Evc |
A |
T |
5: 37,477,650 (GRCm39) |
M343K |
probably benign |
Het |
| Fbxw17 |
T |
A |
13: 50,577,367 (GRCm39) |
D86E |
probably damaging |
Het |
| Fbxw9 |
T |
A |
8: 85,788,856 (GRCm39) |
L202Q |
probably damaging |
Het |
| Fkbp9 |
G |
T |
6: 56,852,677 (GRCm39) |
V466F |
probably damaging |
Het |
| Fras1 |
G |
A |
5: 96,805,087 (GRCm39) |
R1243Q |
probably benign |
Het |
| Fsip2 |
C |
T |
2: 82,815,958 (GRCm39) |
T3897I |
probably benign |
Het |
| Fut7 |
T |
C |
2: 25,315,191 (GRCm39) |
S150P |
possibly damaging |
Het |
| Gstm5 |
A |
G |
3: 107,804,634 (GRCm39) |
I73V |
probably benign |
Het |
| Hspb9 |
A |
G |
11: 100,604,769 (GRCm39) |
M32V |
possibly damaging |
Het |
| Ift80 |
A |
G |
3: 68,825,894 (GRCm39) |
I482T |
possibly damaging |
Het |
| Khk |
C |
T |
5: 31,079,141 (GRCm39) |
|
probably benign |
Het |
| Kmt2d |
A |
T |
15: 98,747,324 (GRCm39) |
H3333Q |
unknown |
Het |
| Lamc1 |
G |
T |
1: 153,119,087 (GRCm39) |
T844K |
probably damaging |
Het |
| Luc7l2 |
A |
T |
6: 38,542,633 (GRCm39) |
I10L |
probably benign |
Het |
| Mosmo |
T |
A |
7: 120,277,055 (GRCm39) |
I23N |
probably benign |
Het |
| Mtcl2 |
A |
G |
2: 156,881,919 (GRCm39) |
V711A |
probably benign |
Het |
| Nbea |
AC |
A |
3: 55,998,393 (GRCm39) |
|
probably null |
Het |
| Nfkbiz |
A |
T |
16: 55,634,347 (GRCm39) |
V700E |
probably damaging |
Het |
| Nsun7 |
T |
C |
5: 66,418,366 (GRCm39) |
V32A |
probably benign |
Het |
| Oog1 |
A |
G |
12: 87,653,016 (GRCm39) |
D104G |
probably damaging |
Het |
| Or4b13 |
C |
T |
2: 90,082,820 (GRCm39) |
V171M |
possibly damaging |
Het |
| Pde3a |
A |
G |
6: 141,437,904 (GRCm39) |
D991G |
probably damaging |
Het |
| Pi4ka |
A |
G |
16: 17,176,225 (GRCm39) |
S405P |
|
Het |
| Plk4 |
T |
A |
3: 40,760,990 (GRCm39) |
V440E |
possibly damaging |
Het |
| Prkd2 |
A |
G |
7: 16,577,699 (GRCm39) |
I51V |
probably damaging |
Het |
| Ptprt |
T |
C |
2: 161,402,106 (GRCm39) |
T1042A |
probably damaging |
Het |
| Rsph6a |
C |
A |
7: 18,801,986 (GRCm39) |
T600N |
possibly damaging |
Het |
| Scn11a |
A |
T |
9: 119,611,013 (GRCm39) |
V946E |
probably damaging |
Het |
| Sec11a |
G |
A |
7: 80,565,634 (GRCm39) |
L170F |
probably damaging |
Het |
| Slc15a5 |
A |
G |
6: 137,961,450 (GRCm39) |
I215T |
|
Het |
| Slc1a1 |
A |
G |
19: 28,882,794 (GRCm39) |
I353V |
probably benign |
Het |
| Smox |
A |
G |
2: 131,362,843 (GRCm39) |
E374G |
possibly damaging |
Het |
| Sytl2 |
A |
G |
7: 90,050,633 (GRCm39) |
T727A |
possibly damaging |
Het |
| Taar7d |
A |
C |
10: 23,904,124 (GRCm39) |
K335N |
probably benign |
Het |
| Tacc2 |
T |
A |
7: 130,227,985 (GRCm39) |
S1557T |
probably benign |
Het |
| Tbx19 |
C |
A |
1: 164,966,609 (GRCm39) |
V422L |
probably benign |
Het |
| Tdrd1 |
G |
T |
19: 56,831,679 (GRCm39) |
V357F |
probably benign |
Het |
| Tdrd6 |
A |
G |
17: 43,939,231 (GRCm39) |
C606R |
probably damaging |
Het |
| Tmcc1 |
C |
G |
6: 116,020,049 (GRCm39) |
G468R |
|
Het |
| Tmem209 |
G |
A |
6: 30,506,838 (GRCm39) |
T93I |
probably damaging |
Het |
| Trpv1 |
T |
C |
11: 73,141,681 (GRCm39) |
V568A |
possibly damaging |
Het |
| Tsbp1 |
A |
T |
17: 34,648,922 (GRCm39) |
I43L |
|
Het |
| Tubgcp2 |
T |
C |
7: 139,587,965 (GRCm39) |
D220G |
probably damaging |
Het |
| Vmn1r11 |
A |
G |
6: 57,114,992 (GRCm39) |
R219G |
possibly damaging |
Het |
| Zan |
A |
G |
5: 137,465,463 (GRCm39) |
S431P |
possibly 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 |
|
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 |
|
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'- TGGGTAACAGTGATTTCTAGACC -3'
(R):5'- GCCCTCCTAACATGCTTAAAATTCC -3'
Sequencing Primer
(F):5'- CAGTGATTTCTAGACCAGTTTGAGC -3'
(R):5'- ACCCTGGTCTACAAAGTGAGTTCG -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation