Incidental Mutation 'R8190:Pds5a'
| ID |
635064 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pds5a
|
| Ensembl Gene |
ENSMUSG00000029202 |
| Gene Name |
PDS5 cohesin associated factor A |
| Synonyms |
9030416H16Rik, E230024D05Rik |
| MMRRC Submission |
067613-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8190 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
65763062-65855579 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 65781341 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 1046
(H1046Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031104
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031104]
[ENSMUST00000201948]
[ENSMUST00000202648]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031104
AA Change: H1046Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000031104
Gene: ENSMUSG00000029202
AA Change: H1046Q
| 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 damaging
Transcript: ENSMUST00000201948
AA Change: H1046Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000144171
Gene: ENSMUSG00000029202
AA Change: H1046Q
| 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: ENSMUST00000202648
|
| SMART Domains |
Protein: ENSMUSP00000144463
Gene: ENSMUSG00000029202
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
58 |
74 |
N/A |
INTRINSIC |
|
low complexity region
|
100 |
110 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr8 |
T |
C |
14: 29,706,030 (GRCm39) |
V113A |
possibly damaging |
Het |
| Adcy7 |
A |
G |
8: 89,037,666 (GRCm39) |
M245V |
possibly damaging |
Het |
| Adgra1 |
G |
T |
7: 139,456,034 (GRCm39) |
R554L |
probably benign |
Het |
| Agfg2 |
T |
A |
5: 137,653,664 (GRCm39) |
M351L |
probably benign |
Het |
| Ahnak |
G |
A |
19: 8,979,619 (GRCm39) |
G301D |
probably benign |
Het |
| Ambra1 |
C |
T |
2: 91,602,697 (GRCm39) |
A227V |
possibly damaging |
Het |
| Ankrd24 |
T |
A |
10: 81,474,152 (GRCm39) |
D166E |
unknown |
Het |
| Anks1 |
C |
T |
17: 28,205,778 (GRCm39) |
P341S |
probably benign |
Het |
| Ano4 |
C |
T |
10: 88,808,607 (GRCm39) |
D766N |
probably benign |
Het |
| Apol7e |
A |
T |
15: 77,602,007 (GRCm39) |
T202S |
possibly damaging |
Het |
| Arhgap44 |
C |
A |
11: 64,929,479 (GRCm39) |
C275F |
probably damaging |
Het |
| Arl6ip4 |
A |
C |
5: 124,255,095 (GRCm39) |
K95T |
probably damaging |
Het |
| Bbs9 |
T |
C |
9: 22,590,284 (GRCm39) |
L674P |
probably damaging |
Het |
| Bmp4 |
T |
A |
14: 46,621,972 (GRCm39) |
M191L |
probably benign |
Het |
| Celsr1 |
A |
G |
15: 85,787,090 (GRCm39) |
L2753P |
probably damaging |
Het |
| Cerkl |
T |
A |
2: 79,163,901 (GRCm39) |
H473L |
probably benign |
Het |
| Cfap99 |
A |
T |
5: 34,482,502 (GRCm39) |
T538S |
possibly damaging |
Het |
| Clock |
A |
T |
5: 76,375,051 (GRCm39) |
V706E |
probably damaging |
Het |
| Cpne6 |
T |
C |
14: 55,749,485 (GRCm39) |
M15T |
probably benign |
Het |
| Deaf1 |
T |
C |
7: 140,894,324 (GRCm39) |
D351G |
probably damaging |
Het |
| Dnajb8 |
C |
T |
6: 88,199,940 (GRCm39) |
R159C |
possibly damaging |
Het |
| Eif3j1 |
A |
T |
2: 121,877,969 (GRCm39) |
D119V |
probably damaging |
Het |
| Eps8l1 |
C |
A |
7: 4,474,297 (GRCm39) |
S195Y |
probably benign |
Het |
| Exosc5 |
T |
C |
7: 25,365,769 (GRCm39) |
|
probably null |
Het |
| Fabp2 |
A |
T |
3: 122,690,419 (GRCm39) |
H34L |
probably benign |
Het |
| Fbln5 |
T |
A |
12: 101,723,555 (GRCm39) |
Q382L |
probably damaging |
Het |
| Fbxo34 |
C |
A |
14: 47,767,879 (GRCm39) |
T464K |
possibly damaging |
Het |
| Fndc8 |
T |
G |
11: 82,788,686 (GRCm39) |
V172G |
probably damaging |
Het |
| Frs2 |
C |
T |
10: 116,910,784 (GRCm39) |
V193I |
possibly damaging |
Het |
| Gadd45a |
A |
G |
6: 67,013,813 (GRCm39) |
I44T |
possibly damaging |
Het |
| Gprin3 |
A |
G |
6: 59,331,456 (GRCm39) |
S284P |
possibly damaging |
Het |
| Gsta4 |
T |
C |
9: 78,105,654 (GRCm39) |
V28A |
possibly damaging |
Het |
| Herc1 |
T |
A |
9: 66,325,733 (GRCm39) |
D1402E |
probably benign |
Het |
| Hipk2 |
A |
T |
6: 38,795,728 (GRCm39) |
S180R |
possibly damaging |
Het |
| Hrg |
A |
T |
16: 22,779,793 (GRCm39) |
H357L |
unknown |
Het |
| Htr4 |
A |
G |
18: 62,570,971 (GRCm39) |
Q342R |
possibly damaging |
Het |
| Impa1 |
A |
G |
3: 10,386,688 (GRCm39) |
S184P |
possibly damaging |
Het |
| Iqgap3 |
A |
T |
3: 87,998,086 (GRCm39) |
Q281L |
probably damaging |
Het |
| Kcnh8 |
C |
T |
17: 53,263,936 (GRCm39) |
P811L |
probably damaging |
Het |
| Lpin1 |
T |
C |
12: 16,599,003 (GRCm39) |
I628V |
|
Het |
| Lrrc38 |
G |
A |
4: 143,077,303 (GRCm39) |
G189R |
probably damaging |
Het |
| Mfn1 |
A |
T |
3: 32,622,538 (GRCm39) |
I599F |
possibly damaging |
Het |
| Nalcn |
T |
A |
14: 123,837,351 (GRCm39) |
R4S |
possibly damaging |
Het |
| Nbeal2 |
C |
T |
9: 110,455,158 (GRCm39) |
R2580Q |
probably benign |
Het |
| Nlrp4b |
A |
G |
7: 10,448,319 (GRCm39) |
N174S |
probably damaging |
Het |
| Or3a4 |
T |
A |
11: 73,945,305 (GRCm39) |
R93S |
probably benign |
Het |
| Or4q3 |
A |
T |
14: 50,583,179 (GRCm39) |
V240D |
probably damaging |
Het |
| Or52a5 |
A |
T |
7: 103,426,802 (GRCm39) |
V250D |
probably damaging |
Het |
| Or5p63 |
A |
G |
7: 107,811,014 (GRCm39) |
F241L |
possibly damaging |
Het |
| Pabpc2 |
G |
A |
18: 39,908,520 (GRCm39) |
R595Q |
probably benign |
Het |
| Pak6 |
C |
T |
2: 118,520,578 (GRCm39) |
Q190* |
probably null |
Het |
| Plin1 |
A |
G |
7: 79,373,028 (GRCm39) |
S314P |
probably benign |
Het |
| Pramel20 |
T |
G |
4: 143,298,530 (GRCm39) |
Y158D |
probably benign |
Het |
| Ptpra |
G |
A |
2: 30,328,351 (GRCm39) |
S224N |
probably damaging |
Het |
| Rbp1 |
T |
G |
9: 98,326,709 (GRCm39) |
W107G |
probably damaging |
Het |
| Rgs7bp |
T |
C |
13: 105,189,617 (GRCm39) |
N61D |
probably damaging |
Het |
| Slc1a6 |
A |
G |
10: 78,627,067 (GRCm39) |
T135A |
probably damaging |
Het |
| Smarcc1 |
T |
A |
9: 110,031,602 (GRCm39) |
D783E |
probably benign |
Het |
| Sufu |
G |
T |
19: 46,389,636 (GRCm39) |
E86* |
probably null |
Het |
| Synm |
A |
T |
7: 67,383,654 (GRCm39) |
M1336K |
probably benign |
Het |
| Tgm1 |
C |
T |
14: 55,942,341 (GRCm39) |
G670D |
probably damaging |
Het |
| Tmc8 |
T |
G |
11: 117,682,186 (GRCm39) |
|
probably null |
Het |
| Togaram1 |
T |
C |
12: 65,053,686 (GRCm39) |
V1322A |
probably damaging |
Het |
| Uxs1 |
A |
T |
1: 43,810,911 (GRCm39) |
I225K |
possibly damaging |
Het |
| Vil1 |
G |
T |
1: 74,474,052 (GRCm39) |
E796* |
probably null |
Het |
| Vmn1r174 |
T |
C |
7: 23,453,568 (GRCm39) |
F78S |
probably damaging |
Het |
| Vps13d |
T |
A |
4: 144,879,321 (GRCm39) |
I1501F |
|
Het |
| Vps8 |
A |
T |
16: 21,393,780 (GRCm39) |
T1216S |
possibly damaging |
Het |
| Yipf4 |
G |
T |
17: 74,800,967 (GRCm39) |
R95L |
probably damaging |
Het |
| Zan |
T |
A |
5: 137,465,346 (GRCm39) |
T470S |
probably damaging |
Het |
| Zfp113 |
G |
T |
5: 138,143,258 (GRCm39) |
H331N |
probably damaging |
Het |
| Zfp62 |
A |
G |
11: 49,106,902 (GRCm39) |
Y331C |
probably damaging |
Het |
| Zfyve26 |
T |
C |
12: 79,327,610 (GRCm39) |
H580R |
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 |
|
|
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 |
|
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'- AGGCATTAGAAAGAGATTCAAAATCA -3'
(R):5'- TCATTCTGGGAACTGGACAAA -3'
Sequencing Primer
(F):5'- AGCCATAATTCCATTTCCAGGG -3'
(R):5'- CACAATGAGCCAGCTTGTGTTAC -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation