Incidental Mutation 'R5013:Pds5a'
| ID |
390631 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pds5a
|
| Ensembl Gene |
ENSMUSG00000029202 |
| Gene Name |
PDS5 cohesin associated factor A |
| Synonyms |
9030416H16Rik, E230024D05Rik |
| MMRRC Submission |
042604-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5013 (G1)
|
| Quality Score |
210 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
65763062-65855579 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 65792680 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glycine
at position 751
(V751G)
|
| 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: V751G
PolyPhen 2
Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000031104
Gene: ENSMUSG00000029202
AA Change: V751G
| 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: V751G
PolyPhen 2
Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000144171
Gene: ENSMUSG00000029202
AA Change: V751G
| 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 |
0.0970 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.3%
|
| Validation Efficiency |
100% (86/86) |
| 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: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
A |
G |
1: 71,303,926 (GRCm39) |
L2117P |
probably damaging |
Het |
| Ago3 |
A |
T |
4: 126,262,391 (GRCm39) |
S386R |
probably benign |
Het |
| Agxt |
T |
C |
1: 93,069,779 (GRCm39) |
|
probably benign |
Het |
| Ahctf1 |
A |
T |
1: 179,611,675 (GRCm39) |
I565N |
possibly damaging |
Het |
| Ank1 |
C |
T |
8: 23,572,300 (GRCm39) |
T70I |
probably damaging |
Het |
| Anxa1 |
A |
G |
19: 20,360,287 (GRCm39) |
V108A |
probably benign |
Het |
| Aqp3 |
A |
G |
4: 41,093,819 (GRCm39) |
F225L |
probably damaging |
Het |
| Atp11b |
T |
G |
3: 35,888,532 (GRCm39) |
I934R |
possibly damaging |
Het |
| Atp13a5 |
A |
T |
16: 29,169,566 (GRCm39) |
L42Q |
probably damaging |
Het |
| Bcr |
A |
G |
10: 74,960,898 (GRCm39) |
D443G |
probably benign |
Het |
| Cbfa2t3 |
G |
T |
8: 123,365,598 (GRCm39) |
D211E |
possibly damaging |
Het |
| Ccdc146 |
A |
T |
5: 21,538,036 (GRCm39) |
L96Q |
probably damaging |
Het |
| Cdh16 |
A |
G |
8: 105,343,660 (GRCm39) |
I612T |
probably damaging |
Het |
| Clcn2 |
G |
A |
16: 20,525,965 (GRCm39) |
P785S |
probably damaging |
Het |
| Dennd5a |
A |
G |
7: 109,513,983 (GRCm39) |
I743T |
possibly damaging |
Het |
| Dnah12 |
T |
A |
14: 26,431,326 (GRCm39) |
D381E |
probably benign |
Het |
| Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
| Dnajc2 |
G |
A |
5: 21,962,771 (GRCm39) |
R521* |
probably null |
Het |
| Dst |
T |
C |
1: 34,289,728 (GRCm39) |
V5776A |
probably damaging |
Het |
| Eddm13 |
G |
A |
7: 6,269,332 (GRCm39) |
|
probably benign |
Het |
| Eif1ad19 |
T |
A |
12: 87,740,512 (GRCm39) |
K16* |
probably null |
Het |
| Ercc4 |
G |
A |
16: 12,941,445 (GRCm39) |
|
probably benign |
Het |
| Eya1 |
T |
A |
1: 14,254,582 (GRCm39) |
N417Y |
probably damaging |
Het |
| Fam149b |
T |
A |
14: 20,413,439 (GRCm39) |
H219Q |
possibly damaging |
Het |
| Fam227b |
G |
A |
2: 125,958,043 (GRCm39) |
P241S |
probably damaging |
Het |
| Fbxw17 |
C |
T |
13: 50,586,506 (GRCm39) |
R403C |
probably benign |
Het |
| Fer1l4 |
T |
C |
2: 155,873,135 (GRCm39) |
Y1315C |
probably damaging |
Het |
| Gatd1 |
G |
T |
7: 140,988,861 (GRCm39) |
|
probably benign |
Het |
| Gm10330 |
A |
T |
12: 23,829,961 (GRCm39) |
Y73* |
probably null |
Het |
| Grn |
C |
A |
11: 102,321,380 (GRCm39) |
|
probably benign |
Het |
| Gsn |
T |
A |
2: 35,188,933 (GRCm39) |
Y440N |
probably damaging |
Het |
| Hdc |
C |
T |
2: 126,446,220 (GRCm39) |
E180K |
probably benign |
Het |
| Ilk |
A |
G |
7: 105,391,456 (GRCm39) |
D374G |
probably damaging |
Het |
| Invs |
G |
A |
4: 48,421,807 (GRCm39) |
R813Q |
probably damaging |
Het |
| Itln1 |
T |
A |
1: 171,360,958 (GRCm39) |
K45* |
probably null |
Het |
| Ivd |
A |
G |
2: 118,710,946 (GRCm39) |
Y385C |
probably damaging |
Het |
| Klk1b4 |
A |
G |
7: 43,860,492 (GRCm39) |
N170S |
probably benign |
Het |
| Klk1b9 |
A |
C |
7: 43,445,419 (GRCm39) |
D203A |
probably damaging |
Het |
| Lamtor3 |
A |
T |
3: 137,630,909 (GRCm39) |
R27S |
probably damaging |
Het |
| Lcn6 |
T |
A |
2: 25,567,082 (GRCm39) |
|
probably null |
Het |
| Lrriq1 |
T |
C |
10: 103,025,784 (GRCm39) |
D946G |
probably damaging |
Het |
| Morc1 |
A |
G |
16: 48,322,699 (GRCm39) |
D332G |
probably benign |
Het |
| Myo15a |
T |
C |
11: 60,382,493 (GRCm39) |
I1523T |
probably damaging |
Het |
| Nagpa |
A |
T |
16: 5,013,743 (GRCm39) |
M365K |
probably benign |
Het |
| Nckap5l |
G |
T |
15: 99,324,457 (GRCm39) |
P682Q |
probably benign |
Het |
| Nfix |
A |
G |
8: 85,498,713 (GRCm39) |
F87L |
possibly damaging |
Het |
| Nup155 |
C |
A |
15: 8,153,722 (GRCm39) |
T421K |
probably benign |
Het |
| Or5ac25 |
A |
T |
16: 59,182,067 (GRCm39) |
N171K |
probably damaging |
Het |
| Or5ae2 |
T |
C |
7: 84,505,646 (GRCm39) |
V23A |
probably damaging |
Het |
| Or7c74 |
A |
G |
2: 37,160,937 (GRCm39) |
|
noncoding transcript |
Het |
| Or8k53 |
A |
T |
2: 86,177,647 (GRCm39) |
F154L |
probably benign |
Het |
| Pate14 |
T |
C |
9: 36,549,120 (GRCm39) |
N47D |
probably benign |
Het |
| Podnl1 |
G |
T |
8: 84,852,965 (GRCm39) |
C45F |
probably damaging |
Het |
| Psme2b |
C |
T |
11: 48,836,654 (GRCm39) |
E98K |
probably benign |
Het |
| Ptprk |
T |
A |
10: 28,427,713 (GRCm39) |
I764N |
probably damaging |
Het |
| Rbm33 |
A |
T |
5: 28,547,409 (GRCm39) |
Q193L |
probably benign |
Het |
| Rnasel |
C |
A |
1: 153,629,677 (GRCm39) |
H64Q |
probably damaging |
Het |
| Ryr1 |
G |
A |
7: 28,802,234 (GRCm39) |
|
probably null |
Het |
| Scamp3 |
A |
G |
3: 89,088,216 (GRCm39) |
|
probably benign |
Het |
| Sema6b |
C |
T |
17: 56,439,497 (GRCm39) |
|
probably null |
Het |
| Six4 |
A |
C |
12: 73,150,400 (GRCm39) |
I715R |
probably benign |
Het |
| Slc28a2 |
T |
C |
2: 122,288,371 (GRCm39) |
M554T |
possibly damaging |
Het |
| Snhg11 |
T |
C |
2: 158,218,872 (GRCm39) |
|
probably benign |
Het |
| Spdya |
A |
T |
17: 71,869,499 (GRCm39) |
Y98F |
possibly damaging |
Het |
| Tert |
T |
C |
13: 73,794,428 (GRCm39) |
|
probably null |
Het |
| Tex22 |
G |
A |
12: 113,052,104 (GRCm39) |
C54Y |
probably damaging |
Het |
| Tmem198b |
C |
T |
10: 128,637,942 (GRCm39) |
R207H |
probably damaging |
Het |
| Trbv13-1 |
C |
T |
6: 41,093,189 (GRCm39) |
Q42* |
probably null |
Het |
| Trcg1 |
T |
C |
9: 57,149,562 (GRCm39) |
L378P |
probably damaging |
Het |
| Trpv5 |
T |
G |
6: 41,636,647 (GRCm39) |
D433A |
probably damaging |
Het |
| Ube3b |
A |
G |
5: 114,545,702 (GRCm39) |
N654D |
probably damaging |
Het |
| Vmn1r17 |
A |
G |
6: 57,337,828 (GRCm39) |
V130A |
probably benign |
Het |
| Vwa7 |
A |
T |
17: 35,241,709 (GRCm39) |
Y448F |
probably damaging |
Het |
| Zan |
A |
C |
5: 137,382,099 (GRCm39) |
D5149E |
unknown |
Het |
| Zfp106 |
A |
G |
2: 120,341,015 (GRCm39) |
W1832R |
probably damaging |
Het |
| Zfp189 |
G |
A |
4: 49,530,438 (GRCm39) |
G514S |
probably damaging |
Het |
| Zhx1 |
G |
A |
15: 57,917,538 (GRCm39) |
T236I |
possibly 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 |
|
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 |
|
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'- TTTCTAAGAAAGCCTTCACCACCAG -3'
Sequencing Primer
(F):5'- TTCAGCTGTGAGGATAAGCTAGC -3'
(R):5'- TTCACCACCAGTACATATCTAAGTAG -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation