Incidental Mutation 'R4867:Pds5a'
ID |
376221 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pds5a
|
Ensembl Gene |
ENSMUSG00000029202 |
Gene Name |
PDS5 cohesin associated factor A |
Synonyms |
9030416H16Rik, E230024D05Rik |
MMRRC Submission |
042477-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4867 (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 65801463 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 595
(K595E)
|
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: K595E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000031104 Gene: ENSMUSG00000029202 AA Change: K595E
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: ENSMUST00000200766
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200790
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201109
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000201948
AA Change: K595E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000144171 Gene: ENSMUSG00000029202 AA Change: K595E
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: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.9%
|
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: 80 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310022B05Rik |
T |
C |
8: 125,366,099 (GRCm39) |
I215V |
probably damaging |
Het |
4921509C19Rik |
A |
T |
2: 151,314,742 (GRCm39) |
L312* |
probably null |
Het |
9930111J21Rik1 |
T |
A |
11: 48,839,375 (GRCm39) |
|
probably null |
Het |
Abca6 |
C |
A |
11: 110,093,205 (GRCm39) |
V1023F |
probably benign |
Het |
Ablim2 |
C |
T |
5: 35,959,766 (GRCm39) |
R73C |
possibly damaging |
Het |
Acsbg2 |
A |
G |
17: 57,169,914 (GRCm39) |
I151T |
possibly damaging |
Het |
Arid1a |
G |
A |
4: 133,448,168 (GRCm39) |
S115L |
probably benign |
Het |
B4galnt2 |
T |
C |
11: 95,759,252 (GRCm39) |
D344G |
probably damaging |
Het |
Ccdc40 |
T |
C |
11: 119,122,614 (GRCm39) |
S139P |
probably benign |
Het |
Ccnjl |
T |
C |
11: 43,474,055 (GRCm39) |
V210A |
possibly damaging |
Het |
Cdk5rap1 |
C |
T |
2: 154,212,876 (GRCm39) |
|
probably null |
Het |
Cfhr4 |
A |
T |
1: 139,702,213 (GRCm39) |
|
probably null |
Het |
Cog4 |
T |
C |
8: 111,593,242 (GRCm39) |
V451A |
probably damaging |
Het |
Crb1 |
A |
T |
1: 139,170,752 (GRCm39) |
N818K |
probably damaging |
Het |
Crtc1 |
T |
C |
8: 70,855,164 (GRCm39) |
D152G |
probably damaging |
Het |
Cse1l |
T |
A |
2: 166,768,323 (GRCm39) |
I207N |
possibly damaging |
Het |
Cux1 |
TGGCAGGCGCG |
TG |
5: 136,303,815 (GRCm39) |
|
probably benign |
Het |
Cyp2j13 |
T |
C |
4: 95,947,235 (GRCm39) |
Y272C |
possibly damaging |
Het |
Cyp4f16 |
T |
C |
17: 32,769,724 (GRCm39) |
F445L |
possibly damaging |
Het |
Dlc1 |
T |
C |
8: 37,051,799 (GRCm39) |
H644R |
probably benign |
Het |
Ecm2 |
A |
T |
13: 49,684,821 (GRCm39) |
I643F |
probably damaging |
Het |
Eogt |
A |
T |
6: 97,097,108 (GRCm39) |
|
probably benign |
Het |
Fbxo41 |
A |
C |
6: 85,452,176 (GRCm39) |
S777A |
probably benign |
Het |
Fga |
T |
A |
3: 82,935,951 (GRCm39) |
D59E |
probably benign |
Het |
Flt3 |
A |
T |
5: 147,271,250 (GRCm39) |
V897D |
probably damaging |
Het |
Fmn1 |
G |
T |
2: 113,414,465 (GRCm39) |
|
probably null |
Het |
Frem3 |
T |
C |
8: 81,339,912 (GRCm39) |
L735P |
probably damaging |
Het |
Ftmt |
A |
T |
18: 52,465,125 (GRCm39) |
D147V |
possibly damaging |
Het |
Gabpa |
T |
A |
16: 84,654,356 (GRCm39) |
D344E |
probably benign |
Het |
Gtf3a |
C |
T |
5: 146,888,723 (GRCm39) |
Q145* |
probably null |
Het |
Il36rn |
A |
T |
2: 24,170,847 (GRCm39) |
N48I |
probably damaging |
Het |
Iqca1 |
A |
G |
1: 90,017,226 (GRCm39) |
L403S |
probably benign |
Het |
Jrk |
C |
T |
15: 74,579,069 (GRCm39) |
R72Q |
probably benign |
Het |
Kif19a |
G |
A |
11: 114,658,053 (GRCm39) |
M37I |
probably benign |
Het |
Krt12 |
T |
C |
11: 99,307,789 (GRCm39) |
D433G |
possibly damaging |
Het |
Lce1h |
A |
T |
3: 92,670,770 (GRCm39) |
S127R |
unknown |
Het |
Lrrc7 |
T |
G |
3: 157,866,642 (GRCm39) |
Y1033S |
probably damaging |
Het |
Macf1 |
A |
G |
4: 123,365,993 (GRCm39) |
S1358P |
probably damaging |
Het |
Mfsd1 |
T |
A |
3: 67,495,320 (GRCm39) |
|
probably null |
Het |
Mki67 |
T |
C |
7: 135,301,585 (GRCm39) |
T1150A |
probably damaging |
Het |
Nadk2 |
A |
G |
15: 9,098,946 (GRCm39) |
I291M |
possibly damaging |
Het |
Or13g1 |
T |
C |
7: 85,955,491 (GRCm39) |
T277A |
probably benign |
Het |
Or1j12 |
A |
C |
2: 36,343,211 (GRCm39) |
M205L |
probably benign |
Het |
Or2r2 |
A |
G |
6: 42,464,031 (GRCm39) |
V32A |
probably benign |
Het |
Or6e1 |
T |
A |
14: 54,520,086 (GRCm39) |
T89S |
probably benign |
Het |
Or7g17 |
A |
T |
9: 18,768,862 (GRCm39) |
I305F |
probably benign |
Het |
Parp14 |
T |
A |
16: 35,677,697 (GRCm39) |
Y757F |
probably benign |
Het |
Pcdh18 |
T |
C |
3: 49,709,113 (GRCm39) |
Y734C |
probably damaging |
Het |
Pcnx4 |
T |
C |
12: 72,620,726 (GRCm39) |
S849P |
probably benign |
Het |
Prkg2 |
T |
A |
5: 99,172,568 (GRCm39) |
Y49F |
probably benign |
Het |
Prr5 |
G |
T |
15: 84,624,967 (GRCm39) |
L46F |
probably benign |
Het |
Ptgdr |
G |
T |
14: 45,096,253 (GRCm39) |
P153Q |
probably damaging |
Het |
Rbm12b2 |
T |
C |
4: 12,094,805 (GRCm39) |
S555P |
probably damaging |
Het |
Rhog |
T |
G |
7: 101,889,357 (GRCm39) |
Y32S |
probably damaging |
Het |
Rnf141 |
T |
C |
7: 110,415,975 (GRCm39) |
T209A |
probably damaging |
Het |
Rtkn2 |
T |
C |
10: 67,837,757 (GRCm39) |
I103T |
probably damaging |
Het |
Scn5a |
G |
T |
9: 119,379,737 (GRCm39) |
C182* |
probably null |
Het |
Sema3a |
A |
G |
5: 13,501,208 (GRCm39) |
N84D |
probably benign |
Het |
Sema5a |
G |
T |
15: 32,550,436 (GRCm39) |
M158I |
possibly damaging |
Het |
Shprh |
T |
A |
10: 11,040,301 (GRCm39) |
D71E |
probably benign |
Het |
Slc26a8 |
A |
G |
17: 28,882,608 (GRCm39) |
I239T |
probably benign |
Het |
Slco4c1 |
G |
A |
1: 96,768,953 (GRCm39) |
P303L |
probably damaging |
Het |
Ston1 |
C |
T |
17: 88,943,122 (GRCm39) |
A176V |
probably damaging |
Het |
Sult2a5 |
T |
C |
7: 13,357,976 (GRCm39) |
S3P |
probably benign |
Het |
Tango6 |
T |
A |
8: 107,545,158 (GRCm39) |
V1007E |
probably damaging |
Het |
Tank |
G |
A |
2: 61,408,979 (GRCm39) |
|
probably benign |
Het |
Tas2r124 |
A |
G |
6: 132,732,156 (GRCm39) |
Y155C |
probably damaging |
Het |
Tenm3 |
G |
A |
8: 48,688,856 (GRCm39) |
R2244W |
probably damaging |
Het |
Thoc2l |
T |
C |
5: 104,668,868 (GRCm39) |
I1130T |
possibly damaging |
Het |
Tlk1 |
A |
T |
2: 70,551,915 (GRCm39) |
Y585* |
probably null |
Het |
Tmem221 |
C |
T |
8: 72,007,784 (GRCm39) |
E214K |
probably benign |
Het |
Tmem38a |
T |
C |
8: 73,335,077 (GRCm39) |
V172A |
possibly damaging |
Het |
Tspo2 |
C |
T |
17: 48,755,705 (GRCm39) |
A146T |
possibly damaging |
Het |
Ttc3 |
G |
A |
16: 94,255,374 (GRCm39) |
A1268T |
probably damaging |
Het |
Usp25 |
T |
A |
16: 76,847,355 (GRCm39) |
D154E |
probably damaging |
Het |
Usp34 |
T |
C |
11: 23,401,999 (GRCm39) |
F2410L |
probably benign |
Het |
Vmn1r128 |
T |
A |
7: 21,083,939 (GRCm39) |
H214Q |
possibly damaging |
Het |
Vmn1r24 |
A |
C |
6: 57,933,421 (GRCm39) |
C32W |
probably damaging |
Het |
Zfp931 |
T |
A |
2: 177,709,855 (GRCm39) |
H177L |
probably damaging |
Het |
Znrf1 |
T |
C |
8: 112,264,198 (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 |
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 |
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'- TTCCAGATCTCTATGGGCCCAG -3'
(R):5'- CGTAAGGCAATAAGTAGAAGTCACC -3'
Sequencing Primer
(F):5'- TCTATGGGCCCAGCACCTAAG -3'
(R):5'- TAAGTAGAAGTCACCTATCTGTCCC -3'
|
Posted On |
2016-03-17 |