Incidental Mutation 'R2016:Pds5a'
| ID |
222998 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pds5a
|
| Ensembl Gene |
ENSMUSG00000029202 |
| Gene Name |
PDS5 cohesin associated factor A |
| Synonyms |
9030416H16Rik, E230024D05Rik |
| MMRRC Submission |
040025-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2016 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
65763062-65855579 bp(-) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
T to A
at 65805350 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144171
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031104]
[ENSMUST00000201948]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000031104
|
| SMART Domains |
Protein: ENSMUSP00000031104
Gene: ENSMUSG00000029202
| 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 null
Transcript: ENSMUST00000201948
|
| SMART Domains |
Protein: ENSMUSP00000144171
Gene: ENSMUSG00000029202
| 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: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.5%
|
| 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: 82 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700025C18Rik |
T |
C |
2: 164,920,946 (GRCm39) |
D29G |
unknown |
Het |
| Abca13 |
A |
T |
11: 9,240,619 (GRCm39) |
L827F |
probably damaging |
Het |
| Abca8a |
A |
G |
11: 109,961,213 (GRCm39) |
F570L |
probably damaging |
Het |
| Adck1 |
T |
A |
12: 88,427,862 (GRCm39) |
I493N |
probably damaging |
Het |
| Adra2c |
T |
C |
5: 35,437,656 (GRCm39) |
C143R |
probably damaging |
Het |
| Afg2a |
T |
C |
3: 37,632,911 (GRCm39) |
V839A |
possibly damaging |
Het |
| Akap13 |
C |
T |
7: 75,354,279 (GRCm39) |
T1800M |
probably damaging |
Het |
| Angpt2 |
T |
C |
8: 18,755,747 (GRCm39) |
N240S |
probably damaging |
Het |
| Apob |
G |
A |
12: 8,057,751 (GRCm39) |
D2078N |
possibly damaging |
Het |
| Atp8b1 |
T |
C |
18: 64,673,405 (GRCm39) |
N989S |
probably damaging |
Het |
| B3gnt2 |
T |
C |
11: 22,786,621 (GRCm39) |
D189G |
probably damaging |
Het |
| Bcam |
G |
A |
7: 19,494,274 (GRCm39) |
T374M |
probably benign |
Het |
| Blm |
T |
C |
7: 80,155,674 (GRCm39) |
D335G |
probably benign |
Het |
| Cbfa2t2 |
T |
C |
2: 154,359,727 (GRCm39) |
L264P |
probably damaging |
Het |
| Col4a2 |
T |
C |
8: 11,495,086 (GRCm39) |
F1515L |
probably benign |
Het |
| Csf2ra |
T |
G |
19: 61,215,331 (GRCm39) |
M95L |
probably benign |
Het |
| Cyp2c70 |
T |
A |
19: 40,152,856 (GRCm39) |
T300S |
possibly damaging |
Het |
| Cyp4f15 |
A |
T |
17: 32,921,133 (GRCm39) |
H440L |
probably damaging |
Het |
| Dcaf1 |
T |
A |
9: 106,716,287 (GRCm39) |
D360E |
probably benign |
Het |
| Ddr2 |
T |
C |
1: 169,812,537 (GRCm39) |
M652V |
probably damaging |
Het |
| Dnah2 |
T |
A |
11: 69,327,896 (GRCm39) |
I3370F |
probably damaging |
Het |
| Dpysl5 |
G |
A |
5: 30,948,941 (GRCm39) |
D399N |
probably damaging |
Het |
| Efemp1 |
G |
T |
11: 28,871,613 (GRCm39) |
R376L |
probably damaging |
Het |
| Efl1 |
A |
C |
7: 82,402,917 (GRCm39) |
D673A |
probably damaging |
Het |
| Eid1 |
A |
G |
2: 125,515,121 (GRCm39) |
M4V |
probably benign |
Het |
| Emc10 |
G |
A |
7: 44,142,616 (GRCm39) |
R109W |
probably damaging |
Het |
| Emilin3 |
G |
A |
2: 160,751,530 (GRCm39) |
R170C |
possibly damaging |
Het |
| Erap1 |
T |
C |
13: 74,812,270 (GRCm39) |
W362R |
probably damaging |
Het |
| Fam234a |
A |
G |
17: 26,437,290 (GRCm39) |
F91L |
probably benign |
Het |
| Flnc |
G |
A |
6: 29,443,796 (GRCm39) |
|
probably null |
Het |
| Fsip2 |
A |
G |
2: 82,813,076 (GRCm39) |
K3132E |
possibly damaging |
Het |
| Garin5b |
A |
T |
7: 4,762,397 (GRCm39) |
I244N |
probably damaging |
Het |
| Gm10608 |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
9: 118,989,784 (GRCm39) |
|
probably benign |
Het |
| Gnl3 |
A |
G |
14: 30,738,326 (GRCm39) |
|
probably null |
Het |
| Has1 |
A |
T |
17: 18,068,532 (GRCm39) |
I274N |
probably damaging |
Het |
| Ift70a1 |
A |
G |
2: 75,811,801 (GRCm39) |
L94P |
probably benign |
Het |
| Itsn1 |
T |
C |
16: 91,702,389 (GRCm39) |
|
probably null |
Het |
| Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 53,032,934 (GRCm39) |
74 |
probably benign |
Het |
| Kif13a |
T |
C |
13: 46,964,275 (GRCm39) |
D475G |
probably benign |
Het |
| Klhl20 |
A |
T |
1: 160,930,608 (GRCm39) |
M298K |
probably damaging |
Het |
| Kynu |
G |
T |
2: 43,494,289 (GRCm39) |
G241* |
probably null |
Het |
| Lrif1 |
G |
T |
3: 106,639,522 (GRCm39) |
L202F |
possibly damaging |
Het |
| Lrp5 |
T |
C |
19: 3,660,056 (GRCm39) |
K1003E |
probably benign |
Het |
| Mamdc2 |
T |
C |
19: 23,311,393 (GRCm39) |
D487G |
probably damaging |
Het |
| Mapk8ip1 |
A |
G |
2: 92,221,379 (GRCm39) |
|
probably null |
Het |
| Mettl25 |
T |
A |
10: 105,633,167 (GRCm39) |
E425D |
probably benign |
Het |
| Midn |
G |
T |
10: 79,985,949 (GRCm39) |
R13L |
possibly damaging |
Het |
| Mtmr9 |
T |
C |
14: 63,777,713 (GRCm39) |
Y136C |
possibly damaging |
Het |
| Mylk |
G |
A |
16: 34,817,187 (GRCm39) |
V61M |
probably damaging |
Het |
| Nalcn |
T |
C |
14: 123,831,993 (GRCm39) |
|
probably null |
Het |
| Nle1 |
G |
T |
11: 82,796,373 (GRCm39) |
P166Q |
probably damaging |
Het |
| Nr4a3 |
G |
A |
4: 48,083,252 (GRCm39) |
C595Y |
probably damaging |
Het |
| Or10d4 |
A |
G |
9: 39,580,851 (GRCm39) |
Y166C |
probably damaging |
Het |
| Or4g7 |
G |
T |
2: 111,309,532 (GRCm39) |
M134I |
probably benign |
Het |
| Or4l15 |
A |
G |
14: 50,197,959 (GRCm39) |
I190T |
probably benign |
Het |
| Or5w1b |
C |
T |
2: 87,476,396 (GRCm39) |
V24M |
probably benign |
Het |
| Or8b1 |
A |
T |
9: 38,399,309 (GRCm39) |
|
probably null |
Het |
| Pitpnm1 |
T |
C |
19: 4,161,873 (GRCm39) |
V955A |
probably benign |
Het |
| Plcb1 |
T |
A |
2: 135,204,340 (GRCm39) |
I898N |
possibly damaging |
Het |
| Plcl2 |
G |
A |
17: 50,913,722 (GRCm39) |
V244M |
probably damaging |
Het |
| Plk1 |
A |
G |
7: 121,761,663 (GRCm39) |
K257R |
probably damaging |
Het |
| Prkcg |
A |
T |
7: 3,372,066 (GRCm39) |
T460S |
probably damaging |
Het |
| Prl7d1 |
G |
A |
13: 27,894,156 (GRCm39) |
H138Y |
probably damaging |
Het |
| Prss35 |
A |
G |
9: 86,637,565 (GRCm39) |
S112G |
probably benign |
Het |
| Ptprj |
C |
T |
2: 90,294,958 (GRCm39) |
V417M |
probably damaging |
Het |
| Pwwp2b |
A |
T |
7: 138,836,067 (GRCm39) |
I503F |
possibly damaging |
Het |
| Rasgrp2 |
T |
C |
19: 6,463,195 (GRCm39) |
V498A |
probably benign |
Het |
| Sall1 |
A |
G |
8: 89,755,037 (GRCm39) |
V1314A |
probably benign |
Het |
| Sema6c |
A |
G |
3: 95,078,545 (GRCm39) |
I549V |
probably benign |
Het |
| Slc17a1 |
A |
G |
13: 24,062,522 (GRCm39) |
S230G |
probably benign |
Het |
| Slc5a4a |
T |
G |
10: 75,989,414 (GRCm39) |
F106V |
probably benign |
Het |
| Stat6 |
T |
C |
10: 127,486,665 (GRCm39) |
L147P |
probably damaging |
Het |
| Taar7d |
T |
A |
10: 23,903,642 (GRCm39) |
S175T |
probably benign |
Het |
| Tasor2 |
A |
T |
13: 3,626,770 (GRCm39) |
I1060K |
probably benign |
Het |
| Tmem132b |
A |
G |
5: 125,700,080 (GRCm39) |
Q206R |
probably benign |
Het |
| Tmem229a |
T |
C |
6: 24,955,061 (GRCm39) |
D231G |
probably benign |
Het |
| Trim66 |
A |
G |
7: 109,071,439 (GRCm39) |
|
probably null |
Het |
| Ttll9 |
A |
T |
2: 152,844,214 (GRCm39) |
E374V |
probably damaging |
Het |
| Vmn2r69 |
A |
T |
7: 85,056,493 (GRCm39) |
D548E |
probably damaging |
Het |
| Zcchc2 |
T |
A |
1: 105,931,851 (GRCm39) |
|
probably null |
Het |
| Zfp282 |
T |
A |
6: 47,874,721 (GRCm39) |
|
probably null |
Het |
| Zfp352 |
A |
G |
4: 90,113,408 (GRCm39) |
E516G |
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 |
|
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 |
|
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'- AGTGATTTCTAGACCAGTTTGAGC -3'
(R):5'- TTGATAAAATGCCCTCCTAACATGC -3'
Sequencing Primer
(F):5'- AGGAAATTTAGCTCTGAAAACAGC -3'
(R):5'- ATAAAGTCAGGTGTGGTGGCTCAC -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation