Incidental Mutation 'R6467:Pds5a'
| ID |
516635 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pds5a
|
| Ensembl Gene |
ENSMUSG00000029202 |
| Gene Name |
PDS5 cohesin associated factor A |
| Synonyms |
9030416H16Rik, E230024D05Rik |
| MMRRC Submission |
044600-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6467 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
65763062-65855579 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 65809782 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 393
(L393F)
|
| 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: L393F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000031104
Gene: ENSMUSG00000029202
AA Change: L393F
| 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 |
probably damaging
Transcript: ENSMUST00000201948
AA Change: L393F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000144171
Gene: ENSMUSG00000029202
AA Change: L393F
| 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: ENSMUST00000202698
|
| Meta Mutation Damage Score |
0.2303 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.5%
|
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acvr1b |
T |
C |
15: 101,092,722 (GRCm39) |
W122R |
possibly damaging |
Het |
| Adgrv1 |
C |
T |
13: 81,592,657 (GRCm39) |
R4294H |
probably benign |
Het |
| Afdn |
A |
G |
17: 14,024,315 (GRCm39) |
T74A |
probably damaging |
Het |
| Aff3 |
T |
A |
1: 38,247,098 (GRCm39) |
D829V |
probably benign |
Het |
| Akr1c12 |
T |
C |
13: 4,325,772 (GRCm39) |
Q107R |
probably benign |
Het |
| Apc |
T |
A |
18: 34,402,252 (GRCm39) |
F131I |
probably benign |
Het |
| Atosb |
A |
T |
4: 43,033,687 (GRCm39) |
F489I |
probably damaging |
Het |
| Atp13a1 |
T |
A |
8: 70,259,424 (GRCm39) |
L1036H |
probably damaging |
Het |
| BC035044 |
A |
C |
6: 128,867,855 (GRCm39) |
|
probably benign |
Het |
| C1rl |
A |
G |
6: 124,485,535 (GRCm39) |
D302G |
probably benign |
Het |
| C2cd6 |
A |
C |
1: 59,117,093 (GRCm39) |
D133E |
probably benign |
Het |
| Cacna1c |
T |
A |
6: 118,629,671 (GRCm39) |
Y1061F |
probably damaging |
Het |
| Cav1 |
A |
G |
6: 17,308,034 (GRCm39) |
D62G |
probably damaging |
Het |
| Ccdc77 |
T |
C |
6: 120,327,242 (GRCm39) |
M68V |
probably damaging |
Het |
| Cd55 |
A |
T |
1: 130,375,348 (GRCm39) |
|
probably benign |
Het |
| Cdc27 |
C |
A |
11: 104,413,602 (GRCm39) |
A380S |
probably damaging |
Het |
| Cenpb |
A |
T |
2: 131,021,477 (GRCm39) |
I107K |
probably damaging |
Het |
| Cep135 |
T |
G |
5: 76,769,187 (GRCm39) |
H612Q |
possibly damaging |
Het |
| Chd1l |
A |
T |
3: 97,470,849 (GRCm39) |
N815K |
probably damaging |
Het |
| Cldn20 |
C |
T |
17: 3,582,992 (GRCm39) |
T55M |
possibly damaging |
Het |
| Depdc1a |
A |
T |
3: 159,221,679 (GRCm39) |
I208L |
probably benign |
Het |
| Dgkb |
C |
T |
12: 38,134,223 (GRCm39) |
A43V |
possibly damaging |
Het |
| Dgkb |
C |
T |
12: 38,654,104 (GRCm39) |
T741I |
probably damaging |
Het |
| Dhx16 |
A |
G |
17: 36,197,076 (GRCm39) |
N653S |
probably damaging |
Het |
| Dnah5 |
T |
A |
15: 28,438,329 (GRCm39) |
S3987T |
probably benign |
Het |
| Dnai4 |
T |
C |
4: 102,906,758 (GRCm39) |
D685G |
probably damaging |
Het |
| Dst |
T |
A |
1: 34,334,277 (GRCm39) |
I4835N |
probably damaging |
Het |
| Esrrb |
A |
G |
12: 86,561,114 (GRCm39) |
I288V |
probably damaging |
Het |
| Fnta |
C |
T |
8: 26,497,341 (GRCm39) |
W169* |
probably null |
Het |
| Golga4 |
T |
C |
9: 118,365,860 (GRCm39) |
L304P |
probably damaging |
Het |
| Hace1 |
A |
G |
10: 45,466,362 (GRCm39) |
|
probably null |
Het |
| Ino80b |
G |
T |
6: 83,101,112 (GRCm39) |
|
probably null |
Het |
| Kcmf1 |
G |
A |
6: 72,820,082 (GRCm39) |
R306C |
probably damaging |
Het |
| Lrrc46 |
G |
A |
11: 96,927,305 (GRCm39) |
T92I |
possibly damaging |
Het |
| Man2b1 |
T |
C |
8: 85,824,076 (GRCm39) |
V991A |
possibly damaging |
Het |
| Mga |
A |
G |
2: 119,776,776 (GRCm39) |
N1770S |
probably damaging |
Het |
| Mgat4e |
T |
C |
1: 134,468,944 (GRCm39) |
T367A |
probably benign |
Het |
| Mtr |
A |
G |
13: 12,202,992 (GRCm39) |
S1204P |
probably damaging |
Het |
| Myo15a |
G |
A |
11: 60,417,487 (GRCm39) |
|
probably null |
Het |
| Nktr |
T |
C |
9: 121,560,585 (GRCm39) |
S74P |
probably damaging |
Het |
| Noct |
T |
C |
3: 51,157,508 (GRCm39) |
V282A |
possibly damaging |
Het |
| Nol11 |
A |
T |
11: 107,071,912 (GRCm39) |
I227K |
possibly damaging |
Het |
| Nsd3 |
T |
A |
8: 26,130,646 (GRCm39) |
S4T |
probably damaging |
Het |
| Or5m10b |
T |
A |
2: 85,699,714 (GRCm39) |
Y259* |
probably null |
Het |
| Or5p64 |
A |
G |
7: 107,855,109 (GRCm39) |
S79P |
probably damaging |
Het |
| Prex2 |
C |
T |
1: 11,336,259 (GRCm39) |
R1486C |
probably damaging |
Het |
| Rc3h2 |
T |
C |
2: 37,272,028 (GRCm39) |
T768A |
probably damaging |
Het |
| Rin3 |
A |
T |
12: 102,335,584 (GRCm39) |
E418D |
probably benign |
Het |
| Rnf214 |
G |
T |
9: 45,778,886 (GRCm39) |
T586N |
probably damaging |
Het |
| Samd4b |
A |
G |
7: 28,101,285 (GRCm39) |
S667P |
probably damaging |
Het |
| Sec14l2 |
T |
C |
11: 4,061,161 (GRCm39) |
Y100C |
probably damaging |
Het |
| Slc46a2 |
T |
C |
4: 59,914,077 (GRCm39) |
E282G |
probably benign |
Het |
| Themis |
A |
C |
10: 28,657,762 (GRCm39) |
N110T |
possibly damaging |
Het |
| Tln1 |
C |
A |
4: 43,543,165 (GRCm39) |
S1333I |
probably benign |
Het |
| Tmem53 |
T |
C |
4: 117,125,625 (GRCm39) |
V224A |
possibly damaging |
Het |
| Tmtc4 |
T |
A |
14: 123,163,391 (GRCm39) |
K664N |
possibly damaging |
Het |
| Tnni3k |
T |
C |
3: 154,674,922 (GRCm39) |
D201G |
probably damaging |
Het |
| Tnxb |
A |
G |
17: 34,912,898 (GRCm39) |
E1681G |
probably damaging |
Het |
| Trhde |
A |
T |
10: 114,340,103 (GRCm39) |
D567E |
probably damaging |
Het |
| Tsc2 |
T |
C |
17: 24,828,101 (GRCm39) |
M788V |
probably benign |
Het |
| Ube3a |
A |
G |
7: 58,926,650 (GRCm39) |
Y476C |
probably damaging |
Het |
| Ubiad1 |
T |
C |
4: 148,520,682 (GRCm39) |
N314S |
possibly damaging |
Het |
| Unc79 |
T |
A |
12: 103,139,771 (GRCm39) |
N2375K |
probably damaging |
Het |
| Vmn2r107 |
A |
T |
17: 20,595,939 (GRCm39) |
I831F |
probably damaging |
Het |
| Vwa3b |
T |
A |
1: 37,124,367 (GRCm39) |
C322S |
probably benign |
Het |
| Wnk1 |
A |
T |
6: 119,939,916 (GRCm39) |
H238Q |
probably benign |
Het |
| Wnk2 |
A |
G |
13: 49,300,081 (GRCm39) |
Y210H |
probably damaging |
Het |
| Wwc2 |
T |
C |
8: 48,304,943 (GRCm39) |
D894G |
unknown |
Het |
| Yes1 |
T |
A |
5: 32,810,381 (GRCm39) |
F180Y |
probably damaging |
Het |
| Yju2b |
T |
C |
8: 84,985,318 (GRCm39) |
E317G |
probably benign |
Het |
| Zbtb46 |
T |
C |
2: 181,033,062 (GRCm39) |
Y533C |
probably damaging |
Het |
| Zfp57 |
T |
C |
17: 37,316,942 (GRCm39) |
S7P |
possibly damaging |
Het |
| Zzef1 |
T |
C |
11: 72,802,090 (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 |
|
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 |
|
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'- TATCCACCAGCTGCAACTG -3'
(R):5'- ATGGACAGAACTTAAAGCTTTTGG -3'
Sequencing Primer
(F):5'- TTTAATCCCAGCACTCGGGAG -3'
(R):5'- TTGAAAGTTAGGTCACATGAT -3'
|
| Posted On |
2018-05-21 |
Incidental Mutation