Incidental Mutation 'R9596:Pds5a'
ID |
723261 |
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 # |
R9596 (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 G
at 65772830 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 1258
(S1258P)
|
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 benign
Transcript: ENSMUST00000031104
AA Change: S1258P
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000031104 Gene: ENSMUSG00000029202 AA Change: S1258P
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: S1258P
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000144171 Gene: ENSMUSG00000029202 AA Change: S1258P
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: 99.7%
- 20x: 99.1%
|
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: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aamp |
G |
T |
1: 74,320,262 (GRCm39) |
Q355K |
probably benign |
Het |
Acte1 |
G |
T |
7: 143,434,902 (GRCm39) |
|
probably null |
Het |
AI661453 |
T |
C |
17: 47,780,411 (GRCm39) |
S188P |
unknown |
Het |
Atp10a |
A |
G |
7: 58,477,553 (GRCm39) |
S1251G |
probably damaging |
Het |
Ccr10 |
A |
G |
11: 101,065,018 (GRCm39) |
F171L |
probably benign |
Het |
Clec10a |
A |
T |
11: 70,059,973 (GRCm39) |
D65V |
probably damaging |
Het |
Clybl |
A |
T |
14: 122,548,768 (GRCm39) |
I57L |
probably benign |
Het |
Col5a1 |
G |
T |
2: 27,819,551 (GRCm39) |
E218* |
probably null |
Het |
Diaph1 |
G |
A |
18: 38,024,111 (GRCm39) |
P576S |
unknown |
Het |
Dsg1c |
T |
A |
18: 20,416,361 (GRCm39) |
I754N |
probably benign |
Het |
Fam47e |
G |
C |
5: 92,726,395 (GRCm39) |
R111P |
probably benign |
Het |
Fastkd3 |
G |
A |
13: 68,735,806 (GRCm39) |
V519M |
probably damaging |
Het |
Fhod3 |
T |
A |
18: 25,193,392 (GRCm39) |
Y634* |
probably null |
Het |
Frem3 |
G |
A |
8: 81,341,951 (GRCm39) |
V1415I |
probably benign |
Het |
Herc2 |
G |
A |
7: 55,834,595 (GRCm39) |
S3191N |
|
Het |
Kif19a |
A |
T |
11: 114,676,752 (GRCm39) |
E527V |
probably benign |
Het |
Lmbr1 |
C |
A |
5: 29,440,105 (GRCm39) |
G420* |
probably null |
Het |
Map3k9 |
A |
G |
12: 81,777,404 (GRCm39) |
S526P |
probably damaging |
Het |
Mink1 |
T |
A |
11: 70,497,915 (GRCm39) |
L506Q |
possibly damaging |
Het |
Mroh9 |
T |
C |
1: 162,893,576 (GRCm39) |
I200V |
probably damaging |
Het |
Mrps14 |
T |
C |
1: 160,027,122 (GRCm39) |
V110A |
possibly damaging |
Het |
Mta1 |
A |
G |
12: 113,090,470 (GRCm39) |
Q209R |
probably damaging |
Het |
Mtss2 |
G |
A |
8: 111,458,689 (GRCm39) |
S195N |
|
Het |
Nlgn1 |
T |
A |
3: 25,488,587 (GRCm39) |
I583F |
probably damaging |
Het |
Ntng1 |
T |
C |
3: 110,042,956 (GRCm39) |
|
probably benign |
Het |
Or10w1 |
A |
G |
19: 13,632,002 (GRCm39) |
S70G |
probably damaging |
Het |
Or1p1c |
C |
T |
11: 74,160,289 (GRCm39) |
H25Y |
probably benign |
Het |
Or2ag13 |
A |
T |
7: 106,313,412 (GRCm39) |
Y159N |
probably benign |
Het |
Or5ac25 |
A |
G |
16: 59,181,942 (GRCm39) |
I213T |
possibly damaging |
Het |
Or6c65 |
A |
G |
10: 129,603,988 (GRCm39) |
T208A |
probably damaging |
Het |
Pcdha12 |
A |
T |
18: 37,154,302 (GRCm39) |
L340F |
probably benign |
Het |
Pdk4 |
T |
A |
6: 5,491,842 (GRCm39) |
M173L |
probably benign |
Het |
Plcd1 |
A |
T |
9: 118,917,183 (GRCm39) |
L22Q |
probably benign |
Het |
Prag1 |
A |
G |
8: 36,570,113 (GRCm39) |
D232G |
probably damaging |
Het |
Rest |
C |
T |
5: 77,423,141 (GRCm39) |
T315M |
probably damaging |
Het |
Scrn2 |
G |
A |
11: 96,923,907 (GRCm39) |
V264M |
probably damaging |
Het |
Sipa1l3 |
C |
A |
7: 29,031,691 (GRCm39) |
V1513F |
probably benign |
Het |
Skic3 |
T |
C |
13: 76,330,968 (GRCm39) |
V1466A |
possibly damaging |
Het |
Slc44a1 |
T |
A |
4: 53,544,553 (GRCm39) |
N421K |
probably benign |
Het |
Smc6 |
G |
T |
12: 11,345,045 (GRCm39) |
R662I |
probably damaging |
Het |
Spata31e5 |
C |
A |
1: 28,815,688 (GRCm39) |
M781I |
probably benign |
Het |
Srcap |
T |
A |
7: 127,131,036 (GRCm39) |
W751R |
probably damaging |
Het |
Sv2b |
A |
G |
7: 74,767,462 (GRCm39) |
F645L |
probably damaging |
Het |
Sycp2 |
A |
G |
2: 177,990,212 (GRCm39) |
|
probably null |
Het |
Syne4 |
A |
G |
7: 30,014,504 (GRCm39) |
T41A |
probably benign |
Het |
Tns3 |
G |
A |
11: 8,401,142 (GRCm39) |
T1052M |
possibly damaging |
Het |
Trap1 |
A |
T |
16: 3,871,374 (GRCm39) |
I381N |
probably damaging |
Het |
Tshz1 |
A |
G |
18: 84,031,904 (GRCm39) |
S835P |
possibly damaging |
Het |
Ube3b |
T |
A |
5: 114,527,171 (GRCm39) |
W130R |
probably damaging |
Het |
Ubr5 |
G |
A |
15: 37,986,213 (GRCm39) |
T2207I |
|
Het |
Vmn1r43 |
G |
A |
6: 89,846,877 (GRCm39) |
T203M |
probably damaging |
Het |
Vmn2r11 |
T |
G |
5: 109,201,563 (GRCm39) |
I314L |
possibly damaging |
Het |
Vmn2r15 |
T |
A |
5: 109,440,791 (GRCm39) |
I356L |
probably benign |
Het |
Vmn2r31 |
G |
T |
7: 7,397,292 (GRCm39) |
T322N |
probably benign |
Het |
Vmn2r8 |
A |
T |
5: 108,947,196 (GRCm39) |
F519I |
possibly damaging |
Het |
Wdr35 |
T |
C |
12: 9,036,092 (GRCm39) |
F288L |
probably benign |
Het |
Xab2 |
A |
T |
8: 3,663,018 (GRCm39) |
V521D |
probably damaging |
Het |
Zfp639 |
T |
C |
3: 32,574,269 (GRCm39) |
F298S |
probably damaging |
Het |
Zfp786 |
G |
A |
6: 47,797,406 (GRCm39) |
R511* |
probably null |
Het |
Zfp936 |
T |
A |
7: 42,839,834 (GRCm39) |
C434S |
probably damaging |
Het |
Zranb1 |
T |
C |
7: 132,552,146 (GRCm39) |
F266L |
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 |
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 |
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'- GCTCCATCTTGTAGCTTGGG -3'
(R):5'- CTGTAAAACCGCAGCAGAGG -3'
Sequencing Primer
(F):5'- GGCGCTTTGGCATTCCCTG -3'
(R):5'- CCGCAGCAGAGGGAAAGAC -3'
|
Posted On |
2022-08-09 |