Incidental Mutation 'R9404:Pds5a'
| ID |
711393 |
| 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 # |
R9404 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
65763062-65855579 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 65776307 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 96
(I96F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144463
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031104]
[ENSMUST00000201948]
[ENSMUST00000202648]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000031104
AA Change: I1212F
PolyPhen 2
Score 0.476 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000031104
Gene: ENSMUSG00000029202
AA Change: I1212F
| 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: I1212F
PolyPhen 2
Score 0.476 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000144171
Gene: ENSMUSG00000029202
AA Change: I1212F
| 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: ENSMUST00000202648
AA Change: I96F
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000144463
Gene: ENSMUSG00000029202
AA Change: I96F
| 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: 99.7%
- 20x: 99.0%
|
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot11 |
T |
C |
4: 106,615,509 (GRCm39) |
K314R |
possibly damaging |
Het |
| Armt1 |
AC |
A |
10: 4,400,848 (GRCm39) |
|
probably null |
Het |
| Atad5 |
T |
C |
11: 80,005,064 (GRCm39) |
V1167A |
probably damaging |
Het |
| Bbs12 |
T |
C |
3: 37,373,557 (GRCm39) |
S2P |
probably damaging |
Het |
| Cdh11 |
A |
T |
8: 103,406,254 (GRCm39) |
L73Q |
probably damaging |
Het |
| Cdk15 |
A |
G |
1: 59,328,914 (GRCm39) |
E274G |
possibly damaging |
Het |
| Col27a1 |
T |
C |
4: 63,194,178 (GRCm39) |
V845A |
possibly damaging |
Het |
| Cyp3a11 |
T |
C |
5: 145,799,258 (GRCm39) |
T310A |
probably benign |
Het |
| Efcab5 |
G |
A |
11: 77,022,934 (GRCm39) |
T593I |
probably damaging |
Het |
| Ewsr1 |
A |
G |
11: 5,022,940 (GRCm39) |
M388T |
unknown |
Het |
| Fat2 |
A |
G |
11: 55,144,348 (GRCm39) |
|
probably null |
Het |
| Gm8225 |
T |
A |
17: 26,762,034 (GRCm39) |
I75N |
probably damaging |
Het |
| Gsap |
A |
G |
5: 21,474,919 (GRCm39) |
Y526C |
probably damaging |
Het |
| Hk1 |
T |
A |
10: 62,131,859 (GRCm39) |
I203F |
possibly damaging |
Het |
| Insl5 |
T |
C |
4: 102,875,535 (GRCm39) |
R72G |
probably benign |
Het |
| Iqcb1 |
T |
C |
16: 36,671,632 (GRCm39) |
V321A |
probably damaging |
Het |
| Iqcd |
A |
C |
5: 120,738,601 (GRCm39) |
T140P |
|
Het |
| Kcnt2 |
T |
A |
1: 140,353,107 (GRCm39) |
I272K |
probably damaging |
Het |
| Klhl25 |
A |
C |
7: 75,515,153 (GRCm39) |
I20L |
probably benign |
Het |
| Krt1 |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
15: 101,758,813 (GRCm39) |
|
probably benign |
Het |
| Lrba |
T |
C |
3: 86,205,224 (GRCm39) |
V356A |
probably damaging |
Het |
| Mast4 |
A |
G |
13: 102,887,933 (GRCm39) |
Y1159H |
probably damaging |
Het |
| Mavs |
T |
A |
2: 131,083,818 (GRCm39) |
L105Q |
probably damaging |
Het |
| Megf6 |
T |
A |
4: 154,348,225 (GRCm39) |
C902S |
|
Het |
| Mmp17 |
A |
G |
5: 129,682,741 (GRCm39) |
D460G |
possibly damaging |
Het |
| Myh2 |
G |
T |
11: 67,070,454 (GRCm39) |
A466S |
probably damaging |
Het |
| Neb |
T |
C |
2: 52,147,788 (GRCm39) |
N2744D |
probably damaging |
Het |
| Oga |
CTCGGGTC |
CTC |
19: 45,743,096 (GRCm39) |
|
probably null |
Het |
| Or13a26 |
T |
A |
7: 140,284,722 (GRCm39) |
L186H |
probably damaging |
Het |
| Or2a12 |
T |
C |
6: 42,904,750 (GRCm39) |
V195A |
probably benign |
Het |
| Or2aj4 |
C |
T |
16: 19,384,731 (GRCm39) |
V301M |
probably benign |
Het |
| Or4a27 |
T |
A |
2: 88,559,551 (GRCm39) |
M131L |
probably benign |
Het |
| Or6d13 |
T |
G |
6: 116,517,708 (GRCm39) |
I98S |
probably damaging |
Het |
| Or8g55 |
A |
T |
9: 39,784,708 (GRCm39) |
I46F |
possibly damaging |
Het |
| Parpbp |
A |
G |
10: 87,950,411 (GRCm39) |
V323A |
possibly damaging |
Het |
| Pax5 |
G |
A |
4: 44,645,565 (GRCm39) |
P255S |
possibly damaging |
Het |
| Pcdhga2 |
A |
G |
18: 37,803,067 (GRCm39) |
T304A |
probably benign |
Het |
| Pcsk1 |
T |
G |
13: 75,280,342 (GRCm39) |
S722R |
probably benign |
Het |
| Pcsk9 |
C |
A |
4: 106,311,723 (GRCm39) |
R218L |
probably damaging |
Het |
| Pkdrej |
C |
A |
15: 85,703,270 (GRCm39) |
V889L |
probably benign |
Het |
| Plekhh2 |
A |
T |
17: 84,878,468 (GRCm39) |
|
probably null |
Het |
| Pnn |
A |
G |
12: 59,118,758 (GRCm39) |
E447G |
probably damaging |
Het |
| Ppp2r3d |
A |
G |
9: 101,025,840 (GRCm39) |
L289P |
probably damaging |
Het |
| Ppp6r2 |
A |
G |
15: 89,152,753 (GRCm39) |
H298R |
probably benign |
Het |
| Ptpn23 |
T |
C |
9: 110,216,025 (GRCm39) |
N1277S |
|
Het |
| Pus10 |
T |
A |
11: 23,661,202 (GRCm39) |
F263L |
possibly damaging |
Het |
| Rexo5 |
A |
G |
7: 119,400,542 (GRCm39) |
Y109C |
probably damaging |
Het |
| Rnf185 |
A |
T |
11: 3,382,615 (GRCm39) |
C23* |
probably null |
Het |
| Runx1 |
T |
C |
16: 92,485,915 (GRCm39) |
N140D |
probably benign |
Het |
| Sbf2 |
T |
C |
7: 110,040,702 (GRCm39) |
Q375R |
possibly damaging |
Het |
| Scn9a |
G |
A |
2: 66,357,040 (GRCm39) |
T1087I |
probably benign |
Het |
| Sh2b1 |
TGGGGACCAGCTCAGCCACGGGGACCAGCTC |
TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC |
7: 126,066,742 (GRCm39) |
|
probably benign |
Het |
| Sh2b1 |
TC |
TCAGCCACGGGGACCAGCCC |
7: 126,066,771 (GRCm39) |
|
probably benign |
Het |
| Slc7a11 |
T |
C |
3: 50,335,488 (GRCm39) |
H350R |
possibly damaging |
Het |
| Spaca6 |
T |
C |
17: 18,057,800 (GRCm39) |
C155R |
probably damaging |
Het |
| Spire2 |
C |
T |
8: 124,090,077 (GRCm39) |
R580* |
probably null |
Het |
| Srgap3 |
A |
T |
6: 112,706,616 (GRCm39) |
M851K |
probably benign |
Het |
| Themis |
A |
G |
10: 28,665,743 (GRCm39) |
D602G |
probably benign |
Het |
| Tlcd4 |
T |
C |
3: 121,028,731 (GRCm39) |
N52S |
probably benign |
Het |
| Trak2 |
T |
C |
1: 58,960,296 (GRCm39) |
T236A |
possibly damaging |
Het |
| Trrap |
T |
C |
5: 144,752,225 (GRCm39) |
C1709R |
possibly damaging |
Het |
| Ttn |
A |
T |
2: 76,584,500 (GRCm39) |
S22203T |
probably damaging |
Het |
| Tut7 |
A |
T |
13: 59,947,701 (GRCm39) |
N873K |
probably benign |
Het |
| Ube3a |
A |
G |
7: 58,936,763 (GRCm39) |
T701A |
probably damaging |
Het |
| Ufl1 |
T |
C |
4: 25,275,912 (GRCm39) |
I164V |
probably benign |
Het |
| Vcpip1 |
T |
C |
1: 9,817,856 (GRCm39) |
T176A |
probably damaging |
Het |
| Virma |
T |
A |
4: 11,513,626 (GRCm39) |
D493E |
probably benign |
Het |
| Vmn2r77 |
T |
A |
7: 86,451,247 (GRCm39) |
W378R |
probably benign |
Het |
| Vps13b |
A |
T |
15: 35,876,565 (GRCm39) |
T2799S |
probably damaging |
Het |
| Vps8 |
T |
C |
16: 21,426,927 (GRCm39) |
S1337P |
probably benign |
Het |
| Zfp235 |
A |
T |
7: 23,839,862 (GRCm39) |
I94F |
possibly damaging |
Het |
| Zfp3 |
A |
G |
11: 70,663,366 (GRCm39) |
K442E |
probably damaging |
Het |
| Zfp418 |
A |
T |
7: 7,185,104 (GRCm39) |
I356F |
possibly damaging |
Het |
| Zfp790 |
G |
A |
7: 29,525,185 (GRCm39) |
G68S |
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 |
|
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 |
|
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'- TGCCTCAATAACGTGGAAGG -3'
(R):5'- TGAGGTCTCTCAGGCAAGTG -3'
Sequencing Primer
(F):5'- TAACGTGGAAGGAGAGAAATGACTC -3'
(R):5'- GTCTCTCAGGCAAGTGGATATATAG -3'
|
| Posted On |
2022-05-16 |
Incidental Mutation