Incidental Mutation 'R4491:Pds5a'
ID |
426251 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pds5a
|
Ensembl Gene |
ENSMUSG00000029202 |
Gene Name |
PDS5 cohesin associated factor A |
Synonyms |
9030416H16Rik, E230024D05Rik |
MMRRC Submission |
041747-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4491 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
65763062-65855579 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 65792780 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 718
(T718A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000144171
(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: T718A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000031104 Gene: ENSMUSG00000029202 AA Change: T718A
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: ENSMUST00000201046
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000201948
AA Change: T718A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000144171 Gene: ENSMUSG00000029202 AA Change: T718A
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 |
|
Meta Mutation Damage Score |
0.0587 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.8%
|
Validation Efficiency |
98% (64/65) |
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
0610040J01Rik |
C |
A |
5: 64,055,812 (GRCm39) |
P183T |
probably damaging |
Het |
Bcan |
G |
A |
3: 87,897,540 (GRCm39) |
R682* |
probably null |
Het |
Bzw1 |
T |
A |
1: 58,443,418 (GRCm39) |
L410Q |
probably damaging |
Het |
Cdh5 |
A |
T |
8: 104,839,672 (GRCm39) |
I48F |
probably damaging |
Het |
Cdhr5 |
T |
C |
7: 140,853,970 (GRCm39) |
N173D |
possibly damaging |
Het |
Cfap74 |
T |
C |
4: 155,513,628 (GRCm39) |
M480T |
probably benign |
Het |
Col6a5 |
C |
T |
9: 105,817,211 (GRCm39) |
A367T |
unknown |
Het |
Cpsf1 |
A |
C |
15: 76,481,922 (GRCm39) |
Y1064D |
possibly damaging |
Het |
Defb6 |
A |
T |
8: 19,278,090 (GRCm39) |
H54L |
probably benign |
Het |
Dmtf1 |
A |
G |
5: 9,190,379 (GRCm39) |
|
probably benign |
Het |
Dnah12 |
T |
C |
14: 26,455,758 (GRCm39) |
L827S |
possibly damaging |
Het |
Dnai4 |
T |
C |
4: 102,923,596 (GRCm39) |
E411G |
probably benign |
Het |
Dsc3 |
T |
C |
18: 20,134,922 (GRCm39) |
T21A |
probably benign |
Het |
Epb41l1 |
G |
T |
2: 156,364,088 (GRCm39) |
D866Y |
probably benign |
Het |
Epha1 |
T |
C |
6: 42,337,600 (GRCm39) |
M860V |
probably damaging |
Het |
Far2 |
T |
C |
6: 148,074,907 (GRCm39) |
L380P |
possibly damaging |
Het |
Fgd5 |
A |
G |
6: 91,966,280 (GRCm39) |
I680V |
possibly damaging |
Het |
Fnbp4 |
T |
C |
2: 90,583,312 (GRCm39) |
|
probably null |
Het |
Focad |
G |
A |
4: 88,278,142 (GRCm39) |
|
probably null |
Het |
Gm14180 |
T |
A |
11: 99,621,139 (GRCm39) |
|
probably benign |
Het |
Hbb-bh2 |
T |
C |
7: 103,489,622 (GRCm39) |
T5A |
probably benign |
Het |
Ighv7-2 |
A |
G |
12: 113,876,100 (GRCm39) |
F2L |
probably benign |
Het |
Igsf5 |
A |
G |
16: 96,165,281 (GRCm39) |
T19A |
probably benign |
Het |
Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
Klb |
A |
G |
5: 65,533,137 (GRCm39) |
N482S |
probably benign |
Het |
Lipo2 |
A |
C |
19: 33,699,100 (GRCm39) |
L310R |
probably damaging |
Het |
Mc3r |
A |
G |
2: 172,091,123 (GRCm39) |
H115R |
possibly damaging |
Het |
Meioc |
A |
G |
11: 102,565,746 (GRCm39) |
D398G |
possibly damaging |
Het |
Or10ag60 |
G |
A |
2: 87,437,736 (GRCm39) |
M1I |
probably null |
Het |
Or56a5 |
A |
T |
7: 104,792,983 (GRCm39) |
C172* |
probably null |
Het |
Or7a37 |
T |
C |
10: 78,806,151 (GRCm39) |
S223P |
probably damaging |
Het |
Pdzd2 |
C |
T |
15: 12,385,723 (GRCm39) |
D1016N |
possibly damaging |
Het |
Pla2g2c |
T |
C |
4: 138,461,719 (GRCm39) |
|
probably null |
Het |
Plch1 |
T |
C |
3: 63,648,160 (GRCm39) |
I404V |
probably damaging |
Het |
Pou2af3 |
A |
G |
9: 51,181,955 (GRCm39) |
F206L |
probably benign |
Het |
Ppp2r5c |
A |
T |
12: 110,546,956 (GRCm39) |
D522V |
possibly damaging |
Het |
Prex2 |
T |
A |
1: 11,232,487 (GRCm39) |
S851R |
probably benign |
Het |
Rapgef1 |
C |
T |
2: 29,609,668 (GRCm39) |
P702S |
possibly damaging |
Het |
Rasal3 |
T |
A |
17: 32,610,359 (GRCm39) |
D976V |
probably damaging |
Het |
Rasef |
A |
C |
4: 73,652,740 (GRCm39) |
L587R |
probably damaging |
Het |
Rptn |
A |
T |
3: 93,303,818 (GRCm39) |
R384* |
probably null |
Het |
Sema6a |
G |
A |
18: 47,439,524 (GRCm39) |
|
probably benign |
Het |
Sycp2 |
G |
T |
2: 178,016,778 (GRCm39) |
T608K |
probably damaging |
Het |
Syde1 |
C |
T |
10: 78,426,062 (GRCm39) |
R35H |
probably benign |
Het |
Taf1 |
G |
T |
X: 100,586,665 (GRCm39) |
M313I |
possibly damaging |
Het |
Taf15 |
A |
T |
11: 83,375,520 (GRCm39) |
T31S |
probably benign |
Het |
Tktl2 |
T |
C |
8: 66,964,664 (GRCm39) |
V74A |
probably damaging |
Het |
Tle4 |
A |
G |
19: 14,432,229 (GRCm39) |
V489A |
probably damaging |
Het |
Tmem30a |
T |
C |
9: 79,684,567 (GRCm39) |
H95R |
probably damaging |
Het |
Trmt9b |
G |
A |
8: 36,972,760 (GRCm39) |
C70Y |
probably damaging |
Het |
Vmn1r75 |
C |
A |
7: 11,614,909 (GRCm39) |
Q214K |
probably damaging |
Het |
Vps13c |
C |
T |
9: 67,817,475 (GRCm39) |
T1049M |
probably benign |
Het |
Zfp37 |
T |
C |
4: 62,110,365 (GRCm39) |
Q274R |
probably benign |
Het |
Zfp648 |
T |
G |
1: 154,080,873 (GRCm39) |
L344R |
probably 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 |
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 |
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'- AAGGGCAGTTCAGCTGTGAG -3'
(R):5'- GCAAGTCATAGATTATTAAGGGTGG -3'
Sequencing Primer
(F):5'- TTCAGCTGTGAGGATAAGCTAGC -3'
(R):5'- AAATTGTTCCCTATTGTATGTCTTGG -3'
|
Posted On |
2016-08-31 |