Incidental Mutation 'R7707:Pds5a'
| ID |
594330 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pds5a
|
| Ensembl Gene |
ENSMUSG00000029202 |
| Gene Name |
PDS5 cohesin associated factor A |
| Synonyms |
9030416H16Rik, E230024D05Rik |
| MMRRC Submission |
067893-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7707 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
65763062-65855579 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 65767476 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Glutamine
at position 121
(P121Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144463
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000201948]
[ENSMUST00000202648]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
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 |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000202648
AA Change: P121Q
|
| SMART Domains |
Protein: ENSMUSP00000144463
Gene: ENSMUSG00000029202
AA Change: P121Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
58 |
74 |
N/A |
INTRINSIC |
|
low complexity region
|
100 |
110 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0869 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
99% (72/73) |
| 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: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900026A02Rik |
T |
A |
5: 113,285,852 (GRCm39) |
M1L |
probably benign |
Het |
| Ap1s3 |
T |
C |
1: 79,591,964 (GRCm39) |
K129E |
probably benign |
Het |
| Ap3b2 |
C |
T |
7: 81,126,530 (GRCm39) |
V357I |
possibly damaging |
Het |
| Aplp1 |
A |
T |
7: 30,142,523 (GRCm39) |
C140S |
probably damaging |
Het |
| Arhgef1 |
G |
A |
7: 24,616,306 (GRCm39) |
D317N |
probably damaging |
Het |
| Asb4 |
A |
G |
6: 5,430,968 (GRCm39) |
H401R |
probably benign |
Het |
| Bpi |
A |
T |
2: 158,103,093 (GRCm39) |
E79D |
probably benign |
Het |
| Cant1 |
C |
T |
11: 118,301,724 (GRCm39) |
V198M |
possibly damaging |
Het |
| Casp9 |
C |
T |
4: 141,532,778 (GRCm39) |
R225C |
probably benign |
Het |
| Ccdc88b |
C |
A |
19: 6,834,837 (GRCm39) |
R82L |
probably benign |
Het |
| Cfap251 |
A |
T |
5: 123,391,950 (GRCm39) |
E28V |
probably benign |
Het |
| Chrm4 |
A |
G |
2: 91,757,699 (GRCm39) |
T36A |
probably benign |
Het |
| Cntln |
A |
T |
4: 84,802,853 (GRCm39) |
D51V |
probably damaging |
Het |
| Commd8 |
A |
T |
5: 72,320,081 (GRCm39) |
F120Y |
probably damaging |
Het |
| Cpne6 |
A |
C |
14: 55,753,771 (GRCm39) |
T410P |
probably damaging |
Het |
| Ctnnb1 |
A |
T |
9: 120,781,931 (GRCm39) |
I315F |
possibly damaging |
Het |
| Dnah9 |
A |
G |
11: 66,009,784 (GRCm39) |
V701A |
probably damaging |
Het |
| Efcab9 |
A |
G |
11: 32,472,851 (GRCm39) |
Y199H |
possibly damaging |
Het |
| Endou |
T |
A |
15: 97,610,983 (GRCm39) |
|
probably null |
Het |
| Fhip1a |
A |
G |
3: 85,583,560 (GRCm39) |
V412A |
probably benign |
Het |
| Foxc2 |
C |
T |
8: 121,844,641 (GRCm39) |
P430S |
probably benign |
Het |
| Gas2l3 |
T |
A |
10: 89,250,220 (GRCm39) |
K299N |
probably damaging |
Het |
| Gm10375 |
G |
A |
14: 43,842,332 (GRCm39) |
Q133* |
probably null |
Het |
| Gorab |
T |
C |
1: 163,220,009 (GRCm39) |
D211G |
probably damaging |
Het |
| Grin3b |
T |
A |
10: 79,811,735 (GRCm39) |
S747T |
possibly damaging |
Het |
| Gucd1 |
C |
A |
10: 75,347,120 (GRCm39) |
|
probably benign |
Het |
| Gucy2d |
T |
C |
7: 98,100,876 (GRCm39) |
F400L |
possibly damaging |
Het |
| Hivep3 |
G |
A |
4: 119,591,156 (GRCm39) |
V55M |
|
Het |
| Igsf3 |
A |
G |
3: 101,367,238 (GRCm39) |
N1157S |
probably benign |
Het |
| Irak3 |
A |
T |
10: 119,982,489 (GRCm39) |
D324E |
probably damaging |
Het |
| Jup |
G |
T |
11: 100,273,878 (GRCm39) |
A221D |
possibly damaging |
Het |
| Kctd17 |
CAGCTGGAGGAGC |
CAGC |
15: 78,321,113 (GRCm39) |
|
probably benign |
Het |
| Lgr4 |
A |
G |
2: 109,827,936 (GRCm39) |
|
probably null |
Het |
| Lrrc34 |
T |
C |
3: 30,679,041 (GRCm39) |
D352G |
probably benign |
Het |
| Metrn |
C |
A |
17: 26,014,384 (GRCm39) |
A175S |
probably benign |
Het |
| Nr2c1 |
T |
A |
10: 94,024,027 (GRCm39) |
S411T |
probably benign |
Het |
| Or4c11 |
A |
G |
2: 88,695,153 (GRCm39) |
D68G |
possibly damaging |
Het |
| Or5h22 |
T |
A |
16: 58,894,634 (GRCm39) |
I270F |
possibly damaging |
Het |
| Orc3 |
T |
A |
4: 34,598,691 (GRCm39) |
K172* |
probably null |
Het |
| Oxnad1 |
A |
G |
14: 31,823,965 (GRCm39) |
|
probably null |
Het |
| Pcdh7 |
A |
G |
5: 57,877,672 (GRCm39) |
N409S |
probably damaging |
Het |
| Pcdha11 |
A |
T |
18: 37,144,845 (GRCm39) |
N312I |
probably benign |
Het |
| Phc1 |
A |
G |
6: 122,300,739 (GRCm39) |
I380T |
unknown |
Het |
| Phldb3 |
C |
A |
7: 24,326,022 (GRCm39) |
H535N |
possibly damaging |
Het |
| Proser3 |
T |
C |
7: 30,239,216 (GRCm39) |
Q600R |
probably benign |
Het |
| Ptprz1 |
A |
G |
6: 23,002,295 (GRCm39) |
M1462V |
probably benign |
Het |
| Pyroxd2 |
T |
C |
19: 42,726,586 (GRCm39) |
T243A |
probably damaging |
Het |
| Ralgapa1 |
C |
A |
12: 55,824,077 (GRCm39) |
D268Y |
probably null |
Het |
| Rapgef5 |
A |
C |
12: 117,679,079 (GRCm39) |
Y419S |
probably damaging |
Het |
| Rbm24 |
C |
A |
13: 46,582,605 (GRCm39) |
Q175K |
possibly damaging |
Het |
| Robo4 |
A |
T |
9: 37,324,418 (GRCm39) |
D982V |
probably damaging |
Het |
| Sbf2 |
T |
C |
7: 109,929,920 (GRCm39) |
|
probably null |
Het |
| Serping1 |
A |
T |
2: 84,604,043 (GRCm39) |
|
probably null |
Het |
| Shank1 |
C |
T |
7: 43,993,725 (GRCm39) |
S798F |
unknown |
Het |
| Slc15a5 |
A |
T |
6: 138,056,745 (GRCm39) |
M57K |
probably damaging |
Het |
| Slc35g1 |
T |
A |
19: 38,391,571 (GRCm39) |
C284* |
probably null |
Het |
| Src |
G |
A |
2: 157,306,578 (GRCm39) |
D194N |
probably damaging |
Het |
| Srfbp1 |
A |
G |
18: 52,616,726 (GRCm39) |
T84A |
probably damaging |
Het |
| Sspo |
A |
T |
6: 48,438,461 (GRCm39) |
T1510S |
probably benign |
Het |
| Taar1 |
A |
T |
10: 23,797,135 (GRCm39) |
I278F |
possibly damaging |
Het |
| Taf1a |
T |
C |
1: 183,185,583 (GRCm39) |
Y281H |
possibly damaging |
Het |
| Thbs3 |
A |
T |
3: 89,132,207 (GRCm39) |
Y798F |
possibly damaging |
Het |
| Tnpo1 |
T |
C |
13: 99,027,295 (GRCm39) |
T7A |
probably benign |
Het |
| Traf7 |
A |
T |
17: 24,729,683 (GRCm39) |
|
probably null |
Het |
| Trbv19 |
G |
A |
6: 41,155,547 (GRCm39) |
V9I |
possibly damaging |
Het |
| Trim17 |
C |
T |
11: 58,856,110 (GRCm39) |
Q56* |
probably null |
Het |
| Ttn |
G |
T |
2: 76,732,406 (GRCm39) |
A4643E |
unknown |
Het |
| Ugt2b36 |
A |
G |
5: 87,229,367 (GRCm39) |
|
probably null |
Het |
| Uso1 |
A |
G |
5: 92,349,795 (GRCm39) |
*960W |
probably null |
Het |
| Usp2 |
G |
T |
9: 43,984,757 (GRCm39) |
|
probably null |
Het |
| Wdr20rt |
A |
G |
12: 65,272,981 (GRCm39) |
D148G |
probably damaging |
Het |
| Wif1 |
T |
C |
10: 120,919,864 (GRCm39) |
F204L |
probably damaging |
Het |
| Wwp1 |
T |
C |
4: 19,627,645 (GRCm39) |
D750G |
probably benign |
Het |
| Zfp1006 |
A |
T |
8: 129,945,660 (GRCm39) |
C388* |
probably null |
Het |
| Zmynd12 |
A |
T |
4: 119,302,063 (GRCm39) |
D234V |
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 |
|
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 |
|
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'- GACCTGGAACCAAGTGTTAAGC -3'
(R):5'- ACCACAGAACTTGGCTATCG -3'
Sequencing Primer
(F):5'- CCTGGAACCAAGTGTTAAGCAATTTG -3'
(R):5'- CACAGAACTTGGCTATCGAATAG -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation