Incidental Mutation 'R7654:Pds5a'
| ID |
591057 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pds5a
|
| Ensembl Gene |
ENSMUSG00000029202 |
| Gene Name |
PDS5 cohesin associated factor A |
| Synonyms |
9030416H16Rik, E230024D05Rik |
| MMRRC Submission |
045702-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7654 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
65763062-65855579 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 65776324 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 90
(V90A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144463
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031104]
[ENSMUST00000201948]
[ENSMUST00000202648]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031104
AA Change: V1206A
PolyPhen 2
Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000031104
Gene: ENSMUSG00000029202
AA Change: V1206A
| 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 |
probably benign
Transcript: ENSMUST00000201948
AA Change: V1206A
PolyPhen 2
Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000144171
Gene: ENSMUSG00000029202
AA Change: V1206A
| 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 |
probably damaging
Transcript: ENSMUST00000202648
AA Change: V90A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000144463
Gene: ENSMUSG00000029202
AA Change: V90A
| 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 |
0.0605 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (76/76) |
| 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 |
|---|
| Abcc2 |
G |
A |
19: 43,815,032 (GRCm39) |
V1140M |
possibly damaging |
Het |
| Adamtsl3 |
A |
C |
7: 82,223,702 (GRCm39) |
E1161A |
probably benign |
Het |
| Adcy5 |
T |
C |
16: 35,091,317 (GRCm39) |
S587P |
probably damaging |
Het |
| Aebp2 |
T |
A |
6: 140,599,474 (GRCm39) |
|
probably null |
Het |
| Alb |
G |
C |
5: 90,615,214 (GRCm39) |
R242P |
probably damaging |
Het |
| Ankhd1 |
T |
C |
18: 36,727,154 (GRCm39) |
V423A |
probably damaging |
Het |
| Arid1b |
T |
A |
17: 5,341,360 (GRCm39) |
M888K |
possibly damaging |
Het |
| Asl |
C |
A |
5: 130,047,231 (GRCm39) |
R122S |
probably damaging |
Het |
| B3gntl1 |
T |
A |
11: 121,542,439 (GRCm39) |
D109V |
probably damaging |
Het |
| Cat |
G |
A |
2: 103,290,709 (GRCm39) |
P402S |
probably damaging |
Het |
| Ccdc141 |
A |
T |
2: 76,872,822 (GRCm39) |
Y787N |
probably benign |
Het |
| Ccdc78 |
T |
C |
17: 26,009,085 (GRCm39) |
Y405H |
probably damaging |
Het |
| Ces1f |
T |
G |
8: 93,998,562 (GRCm39) |
K145Q |
probably benign |
Het |
| Cfap65 |
A |
T |
1: 74,972,303 (GRCm39) |
C19S |
probably benign |
Het |
| CN725425 |
T |
A |
15: 91,123,638 (GRCm39) |
I118N |
probably benign |
Het |
| Ctc1 |
C |
T |
11: 68,917,041 (GRCm39) |
P312S |
probably damaging |
Het |
| Ctsa |
C |
T |
2: 164,680,853 (GRCm39) |
T442I |
probably benign |
Het |
| Cyp2b9 |
A |
G |
7: 25,886,367 (GRCm39) |
T131A |
possibly damaging |
Het |
| D630045J12Rik |
A |
G |
6: 38,154,636 (GRCm39) |
M1181T |
probably damaging |
Het |
| Dagla |
C |
G |
19: 10,225,570 (GRCm39) |
G865R |
probably benign |
Het |
| Dst |
A |
C |
1: 34,268,058 (GRCm39) |
K3153Q |
probably damaging |
Het |
| Dst |
A |
T |
1: 34,268,059 (GRCm39) |
K3153M |
probably damaging |
Het |
| Dync2h1 |
A |
T |
9: 7,122,664 (GRCm39) |
H2097Q |
probably damaging |
Het |
| Etnppl |
A |
G |
3: 130,423,160 (GRCm39) |
I286M |
probably benign |
Het |
| Flvcr1 |
A |
T |
1: 190,743,802 (GRCm39) |
M418K |
possibly damaging |
Het |
| Fuca1 |
T |
C |
4: 135,657,232 (GRCm39) |
S215P |
probably damaging |
Het |
| Gabrg1 |
T |
C |
5: 70,935,504 (GRCm39) |
K222E |
probably benign |
Het |
| Gdpd5 |
G |
A |
7: 99,073,396 (GRCm39) |
R26H |
probably damaging |
Het |
| Gnptab |
T |
A |
10: 88,281,681 (GRCm39) |
S1229R |
possibly damaging |
Het |
| Gpt |
A |
G |
15: 76,582,530 (GRCm39) |
E256G |
probably benign |
Het |
| Hif3a |
C |
T |
7: 16,783,021 (GRCm39) |
V261I |
probably damaging |
Het |
| Hmcn2 |
A |
G |
2: 31,236,581 (GRCm39) |
T375A |
probably benign |
Het |
| Hspa4 |
C |
A |
11: 53,190,951 (GRCm39) |
V15F |
probably damaging |
Het |
| Il18 |
A |
G |
9: 50,490,701 (GRCm39) |
N112S |
possibly damaging |
Het |
| Inpp4a |
A |
G |
1: 37,413,179 (GRCm39) |
|
probably null |
Het |
| Knop1 |
A |
G |
7: 118,445,032 (GRCm39) |
S525P |
unknown |
Het |
| Leo1 |
A |
T |
9: 75,362,961 (GRCm39) |
Y461F |
possibly damaging |
Het |
| Med1 |
C |
T |
11: 98,060,189 (GRCm39) |
V247I |
possibly damaging |
Het |
| Mpnd |
T |
G |
17: 56,317,489 (GRCm39) |
H159Q |
probably benign |
Het |
| Msl1 |
A |
G |
11: 98,686,937 (GRCm39) |
E94G |
possibly damaging |
Het |
| Mthfd2l |
A |
T |
5: 91,094,665 (GRCm39) |
I45F |
probably damaging |
Het |
| Neurl1b |
T |
A |
17: 26,657,671 (GRCm39) |
L203Q |
probably benign |
Het |
| Or5m12 |
G |
T |
2: 85,734,663 (GRCm39) |
T245N |
possibly damaging |
Het |
| Otoa |
T |
G |
7: 120,746,923 (GRCm39) |
L896R |
probably damaging |
Het |
| Pcdhac2 |
T |
A |
18: 37,278,076 (GRCm39) |
V352E |
probably damaging |
Het |
| Pcsk5 |
T |
A |
19: 17,434,168 (GRCm39) |
K1400I |
possibly damaging |
Het |
| Pcx |
T |
A |
19: 4,565,697 (GRCm39) |
|
probably null |
Het |
| Pgam2 |
T |
C |
11: 5,753,351 (GRCm39) |
K113R |
probably null |
Het |
| Phkb |
G |
T |
8: 86,667,516 (GRCm39) |
R266L |
possibly damaging |
Het |
| Phtf2 |
A |
G |
5: 20,987,459 (GRCm39) |
S346P |
probably damaging |
Het |
| Pkd1l3 |
G |
A |
8: 110,365,049 (GRCm39) |
A1144T |
probably damaging |
Het |
| Plbd1 |
T |
C |
6: 136,628,864 (GRCm39) |
Y68C |
possibly damaging |
Het |
| Polk |
T |
C |
13: 96,633,321 (GRCm39) |
T241A |
probably benign |
Het |
| Ppfibp2 |
T |
A |
7: 107,337,818 (GRCm39) |
D635E |
probably damaging |
Het |
| Ppip5k1 |
G |
A |
2: 121,179,040 (GRCm39) |
R229W |
probably damaging |
Het |
| Ptpn20 |
A |
G |
14: 33,360,281 (GRCm39) |
D386G |
probably benign |
Het |
| Rab22a |
T |
C |
2: 173,529,968 (GRCm39) |
Y49H |
probably benign |
Het |
| Rab3gap1 |
A |
G |
1: 127,837,652 (GRCm39) |
D238G |
probably damaging |
Het |
| Rbp3 |
T |
C |
14: 33,677,797 (GRCm39) |
S582P |
probably benign |
Het |
| Rcbtb2 |
T |
C |
14: 73,411,941 (GRCm39) |
V410A |
probably benign |
Het |
| Sh3rf2 |
A |
G |
18: 42,237,173 (GRCm39) |
E232G |
probably damaging |
Het |
| Shroom1 |
T |
A |
11: 53,357,735 (GRCm39) |
V762E |
probably benign |
Het |
| Speer4f2 |
A |
T |
5: 17,579,413 (GRCm39) |
M71L |
|
Het |
| Sprr2b |
CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC |
CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC |
3: 92,224,826 (GRCm39) |
|
probably benign |
Het |
| Tgfb1 |
A |
T |
7: 25,387,120 (GRCm39) |
|
probably benign |
Het |
| Tnik |
C |
T |
3: 28,658,334 (GRCm39) |
R540C |
probably damaging |
Het |
| Tti1 |
A |
T |
2: 157,850,474 (GRCm39) |
I255N |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,727,490 (GRCm39) |
S5739G |
unknown |
Het |
| Umad1 |
G |
A |
6: 8,426,995 (GRCm39) |
V57M |
probably damaging |
Het |
| Usp30 |
T |
A |
5: 114,240,506 (GRCm39) |
I49N |
probably damaging |
Het |
| Usp7 |
G |
A |
16: 8,519,907 (GRCm39) |
T398I |
probably benign |
Het |
| Vmn2r65 |
A |
G |
7: 84,590,261 (GRCm39) |
Y552H |
probably damaging |
Het |
| Zfp616 |
A |
G |
11: 73,974,013 (GRCm39) |
N185S |
possibly damaging |
Het |
| Zfp804b |
T |
A |
5: 6,819,458 (GRCm39) |
T1202S |
probably damaging |
Het |
| Zfyve28 |
A |
T |
5: 34,400,539 (GRCm39) |
V53D |
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 |
|
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'- TTGCCTCAATAACGTGGAAGGAG -3'
(R):5'- GGTCTCTCAGGCAAGTGGATATATAG -3'
Sequencing Primer
(F):5'- TAACGTGGAAGGAGAGAAATGACTC -3'
(R):5'- GTCTGTCTTTCTAGTAGGGA -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation