Incidental Mutation 'R6139:Pds5b'
| ID |
488483 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pds5b
|
| Ensembl Gene |
ENSMUSG00000034021 |
| Gene Name |
PDS5 cohesin associated factor B |
| Synonyms |
Aprin, AS3 |
| MMRRC Submission |
044286-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6139 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
150597204-150734155 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 150724242 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 1275
(L1275Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038421
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016569]
[ENSMUST00000038900]
[ENSMUST00000110486]
[ENSMUST00000202170]
|
| AlphaFold |
Q4VA53 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000016569
AA Change: L1273Q
PolyPhen 2
Score 0.409 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000016569
Gene: ENSMUSG00000034021
AA Change: L1273Q
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1gw5a_
|
244 |
773 |
6e-33 |
SMART |
|
low complexity region
|
1156 |
1167 |
N/A |
INTRINSIC |
|
AT_hook
|
1247 |
1259 |
4.14e1 |
SMART |
|
AT_hook
|
1285 |
1297 |
1.35e2 |
SMART |
|
low complexity region
|
1307 |
1316 |
N/A |
INTRINSIC |
|
low complexity region
|
1318 |
1329 |
N/A |
INTRINSIC |
|
AT_hook
|
1370 |
1382 |
1.46e0 |
SMART |
|
low complexity region
|
1437 |
1446 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000038900
AA Change: L1275Q
PolyPhen 2
Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000038421
Gene: ENSMUSG00000034021
AA Change: L1275Q
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1gw5a_
|
244 |
773 |
6e-33 |
SMART |
|
low complexity region
|
1156 |
1167 |
N/A |
INTRINSIC |
|
AT_hook
|
1249 |
1261 |
4.14e1 |
SMART |
|
AT_hook
|
1287 |
1299 |
1.35e2 |
SMART |
|
low complexity region
|
1309 |
1318 |
N/A |
INTRINSIC |
|
low complexity region
|
1320 |
1331 |
N/A |
INTRINSIC |
|
AT_hook
|
1373 |
1385 |
1.46e0 |
SMART |
|
low complexity region
|
1440 |
1449 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110486
|
| SMART Domains |
Protein: ENSMUSP00000106112
Gene: ENSMUSG00000034021
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1gw5a_
|
76 |
520 |
5e-10 |
SMART |
|
low complexity region
|
627 |
638 |
N/A |
INTRINSIC |
|
low complexity region
|
690 |
698 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132947
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201920
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202170
AA Change: L1275Q
PolyPhen 2
Score 0.409 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000144572
Gene: ENSMUSG00000034021
AA Change: L1275Q
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1gw5a_
|
244 |
773 |
6e-33 |
SMART |
|
low complexity region
|
1156 |
1167 |
N/A |
INTRINSIC |
|
AT_hook
|
1249 |
1261 |
4.14e1 |
SMART |
|
AT_hook
|
1287 |
1299 |
1.35e2 |
SMART |
|
low complexity region
|
1309 |
1318 |
N/A |
INTRINSIC |
|
low complexity region
|
1320 |
1331 |
N/A |
INTRINSIC |
|
AT_hook
|
1372 |
1384 |
1.46e0 |
SMART |
|
low complexity region
|
1439 |
1448 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.7%
|
| Validation Efficiency |
100% (50/50) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that interacts with the conserved protein complex termed cohesin. The cohesin complex holds together sister chromatids and facilitates accurate chromosome segregation during mitosis and meiosis. This protein is also a negative regulator of cell proliferation and may be a tumor-suppressor gene. [provided by RefSeq, Jul 2015]
PHENOTYPE: Mice homozygous for a null allele exhibit embryonic and neonatal lethality with cardiac defects, craniofacial abnormalities, axial skeletal defects, shortening of most of the long bones, abnormal enteric nervous system morphology, and decreased germ cells. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6030468B19Rik |
A |
G |
11: 117,697,150 (GRCm39) |
T250A |
probably damaging |
Het |
| Acacb |
T |
C |
5: 114,350,713 (GRCm39) |
I1074T |
probably damaging |
Het |
| Acsl6 |
C |
A |
11: 54,231,368 (GRCm39) |
P462T |
probably damaging |
Het |
| Aebp1 |
A |
G |
11: 5,821,842 (GRCm39) |
D747G |
probably damaging |
Het |
| Antxr2 |
A |
C |
5: 98,125,565 (GRCm39) |
|
probably null |
Het |
| Arhgap35 |
T |
C |
7: 16,297,392 (GRCm39) |
T558A |
possibly damaging |
Het |
| Asap1 |
T |
A |
15: 64,038,388 (GRCm39) |
I223F |
possibly damaging |
Het |
| C2cd5 |
A |
C |
6: 142,980,784 (GRCm39) |
D669E |
probably damaging |
Het |
| Casz1 |
C |
T |
4: 149,036,154 (GRCm39) |
T1472M |
probably damaging |
Het |
| Catsper4 |
A |
G |
4: 133,945,177 (GRCm39) |
L154P |
probably damaging |
Het |
| Cep350 |
T |
C |
1: 155,829,025 (GRCm39) |
E293G |
probably benign |
Het |
| Cma1 |
T |
A |
14: 56,180,157 (GRCm39) |
|
probably null |
Het |
| Ddx42 |
C |
T |
11: 106,130,843 (GRCm39) |
A439V |
probably damaging |
Het |
| Disp2 |
T |
A |
2: 118,621,143 (GRCm39) |
L625Q |
probably damaging |
Het |
| Dnah1 |
T |
C |
14: 31,007,984 (GRCm39) |
D2141G |
probably benign |
Het |
| Dsp |
T |
C |
13: 38,376,382 (GRCm39) |
I1389T |
probably damaging |
Het |
| Fam81a |
A |
T |
9: 70,010,100 (GRCm39) |
|
probably null |
Het |
| Fsip2 |
A |
G |
2: 82,821,388 (GRCm39) |
D5707G |
possibly damaging |
Het |
| Gcnt4 |
G |
A |
13: 97,083,360 (GRCm39) |
V219I |
probably benign |
Het |
| Gk2 |
A |
G |
5: 97,604,139 (GRCm39) |
V233A |
probably benign |
Het |
| Grm1 |
T |
C |
10: 10,622,075 (GRCm39) |
|
probably benign |
Het |
| Gsap |
T |
A |
5: 21,486,538 (GRCm39) |
V649D |
probably damaging |
Het |
| Kif1b |
G |
A |
4: 149,321,989 (GRCm39) |
H977Y |
possibly damaging |
Het |
| Ktn1 |
T |
A |
14: 47,963,672 (GRCm39) |
|
probably null |
Het |
| Lgals12 |
T |
A |
19: 7,581,742 (GRCm39) |
T29S |
probably benign |
Het |
| Me3 |
G |
T |
7: 89,282,108 (GRCm39) |
|
probably benign |
Het |
| Mgst3 |
T |
G |
1: 167,205,874 (GRCm39) |
K35T |
possibly damaging |
Het |
| Mtmr9 |
T |
C |
14: 63,767,227 (GRCm39) |
R354G |
probably benign |
Het |
| Myh11 |
T |
C |
16: 14,033,738 (GRCm39) |
E1059G |
probably damaging |
Het |
| Nr4a2 |
T |
A |
2: 56,998,701 (GRCm39) |
H408L |
probably damaging |
Het |
| Or56b35 |
A |
T |
7: 104,963,453 (GRCm39) |
T81S |
probably damaging |
Het |
| Or5ak23 |
A |
T |
2: 85,244,690 (GRCm39) |
F178I |
probably damaging |
Het |
| Pfkfb4 |
A |
G |
9: 108,856,825 (GRCm39) |
Y412C |
probably damaging |
Het |
| Pop1 |
T |
A |
15: 34,529,204 (GRCm39) |
C745S |
probably benign |
Het |
| Ptpn14 |
T |
G |
1: 189,583,362 (GRCm39) |
S736R |
probably benign |
Het |
| Rdh9 |
A |
T |
10: 127,612,606 (GRCm39) |
T85S |
possibly damaging |
Het |
| Rnf223 |
T |
C |
4: 156,217,260 (GRCm39) |
C212R |
probably damaging |
Het |
| Rnf39 |
A |
G |
17: 37,254,230 (GRCm39) |
E84G |
probably damaging |
Het |
| Sfmbt1 |
T |
A |
14: 30,533,375 (GRCm39) |
V584D |
probably damaging |
Het |
| Slc12a5 |
T |
A |
2: 164,834,231 (GRCm39) |
S728T |
probably damaging |
Het |
| Slc16a12 |
T |
A |
19: 34,648,295 (GRCm39) |
|
probably null |
Het |
| Snupn |
C |
A |
9: 56,890,108 (GRCm39) |
Q310K |
possibly damaging |
Het |
| St7 |
T |
C |
6: 17,694,353 (GRCm39) |
L48P |
probably damaging |
Het |
| Thsd7a |
T |
C |
6: 12,379,572 (GRCm39) |
N951D |
possibly damaging |
Het |
| Ttn |
G |
A |
2: 76,682,413 (GRCm39) |
R959* |
probably null |
Het |
| Ugt2b36 |
A |
T |
5: 87,240,030 (GRCm39) |
D118E |
probably benign |
Het |
| Vmn2r7 |
G |
A |
3: 64,623,339 (GRCm39) |
T327I |
probably damaging |
Het |
| Wdr70 |
T |
C |
15: 8,108,735 (GRCm39) |
D137G |
probably benign |
Het |
| Wrn |
A |
T |
8: 33,843,360 (GRCm39) |
M14K |
probably damaging |
Het |
| Xpot |
T |
A |
10: 121,447,613 (GRCm39) |
E283V |
probably benign |
Het |
|
| Other mutations in Pds5b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00719:Pds5b
|
APN |
5 |
150,646,007 (GRCm39) |
missense |
probably benign |
0.25 |
|
IGL01530:Pds5b
|
APN |
5 |
150,715,640 (GRCm39) |
missense |
probably benign |
0.38 |
|
IGL01812:Pds5b
|
APN |
5 |
150,704,154 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02163:Pds5b
|
APN |
5 |
150,679,871 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02730:Pds5b
|
APN |
5 |
150,704,217 (GRCm39) |
splice site |
probably benign |
|
|
IGL02825:Pds5b
|
APN |
5 |
150,652,435 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL03143:Pds5b
|
APN |
5 |
150,702,722 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03379:Pds5b
|
APN |
5 |
150,711,796 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4283001:Pds5b
|
UTSW |
5 |
150,701,774 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0026:Pds5b
|
UTSW |
5 |
150,673,295 (GRCm39) |
splice site |
probably benign |
|
|
R0197:Pds5b
|
UTSW |
5 |
150,677,896 (GRCm39) |
missense |
probably benign |
0.28 |
|
R0347:Pds5b
|
UTSW |
5 |
150,659,892 (GRCm39) |
splice site |
probably benign |
|
|
R0396:Pds5b
|
UTSW |
5 |
150,702,740 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R0400:Pds5b
|
UTSW |
5 |
150,646,818 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R0442:Pds5b
|
UTSW |
5 |
150,640,009 (GRCm39) |
splice site |
probably benign |
|
|
R0745:Pds5b
|
UTSW |
5 |
150,729,136 (GRCm39) |
missense |
probably benign |
|
|
R0839:Pds5b
|
UTSW |
5 |
150,688,427 (GRCm39) |
missense |
probably benign |
0.23 |
|
R0866:Pds5b
|
UTSW |
5 |
150,662,656 (GRCm39) |
splice site |
probably benign |
|
|
R1247:Pds5b
|
UTSW |
5 |
150,698,819 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
R1330:Pds5b
|
UTSW |
5 |
150,684,542 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1440:Pds5b
|
UTSW |
5 |
150,677,882 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1526:Pds5b
|
UTSW |
5 |
150,639,865 (GRCm39) |
splice site |
probably null |
|
|
R2010:Pds5b
|
UTSW |
5 |
150,698,819 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
R2051:Pds5b
|
UTSW |
5 |
150,671,655 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2507:Pds5b
|
UTSW |
5 |
150,679,893 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R3111:Pds5b
|
UTSW |
5 |
150,643,372 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3820:Pds5b
|
UTSW |
5 |
150,659,802 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R3911:Pds5b
|
UTSW |
5 |
150,670,171 (GRCm39) |
missense |
probably benign |
0.41 |
|
R4077:Pds5b
|
UTSW |
5 |
150,717,824 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R4118:Pds5b
|
UTSW |
5 |
150,698,819 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
R4342:Pds5b
|
UTSW |
5 |
150,724,319 (GRCm39) |
missense |
probably benign |
0.17 |
|
R4416:Pds5b
|
UTSW |
5 |
150,659,861 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4503:Pds5b
|
UTSW |
5 |
150,652,399 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4524:Pds5b
|
UTSW |
5 |
150,711,781 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4579:Pds5b
|
UTSW |
5 |
150,670,197 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4623:Pds5b
|
UTSW |
5 |
150,724,066 (GRCm39) |
missense |
probably benign |
0.37 |
|
R4847:Pds5b
|
UTSW |
5 |
150,671,577 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4885:Pds5b
|
UTSW |
5 |
150,639,927 (GRCm39) |
missense |
probably benign |
0.21 |
|
R5271:Pds5b
|
UTSW |
5 |
150,646,818 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R5281:Pds5b
|
UTSW |
5 |
150,670,073 (GRCm39) |
missense |
probably benign |
0.26 |
|
R5337:Pds5b
|
UTSW |
5 |
150,717,062 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5635:Pds5b
|
UTSW |
5 |
150,701,686 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R5677:Pds5b
|
UTSW |
5 |
150,639,926 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6005:Pds5b
|
UTSW |
5 |
150,693,241 (GRCm39) |
splice site |
probably null |
|
|
R6225:Pds5b
|
UTSW |
5 |
150,670,083 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6279:Pds5b
|
UTSW |
5 |
150,646,713 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R6300:Pds5b
|
UTSW |
5 |
150,646,713 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R6666:Pds5b
|
UTSW |
5 |
150,701,631 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6805:Pds5b
|
UTSW |
5 |
150,729,026 (GRCm39) |
splice site |
probably null |
|
|
R7038:Pds5b
|
UTSW |
5 |
150,724,225 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7046:Pds5b
|
UTSW |
5 |
150,673,385 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7051:Pds5b
|
UTSW |
5 |
150,717,747 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R7138:Pds5b
|
UTSW |
5 |
150,724,142 (GRCm39) |
nonsense |
probably null |
|
|
R7255:Pds5b
|
UTSW |
5 |
150,720,132 (GRCm39) |
missense |
probably benign |
0.33 |
|
R7467:Pds5b
|
UTSW |
5 |
150,659,792 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7488:Pds5b
|
UTSW |
5 |
150,646,802 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7512:Pds5b
|
UTSW |
5 |
150,711,807 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7561:Pds5b
|
UTSW |
5 |
150,662,783 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7576:Pds5b
|
UTSW |
5 |
150,701,726 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7889:Pds5b
|
UTSW |
5 |
150,715,637 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7982:Pds5b
|
UTSW |
5 |
150,693,406 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8059:Pds5b
|
UTSW |
5 |
150,731,300 (GRCm39) |
missense |
unknown |
|
|
R8211:Pds5b
|
UTSW |
5 |
150,652,407 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8412:Pds5b
|
UTSW |
5 |
150,643,424 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8503:Pds5b
|
UTSW |
5 |
150,639,972 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8556:Pds5b
|
UTSW |
5 |
150,716,073 (GRCm39) |
missense |
probably benign |
|
|
R8786:Pds5b
|
UTSW |
5 |
150,704,134 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8929:Pds5b
|
UTSW |
5 |
150,643,379 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8985:Pds5b
|
UTSW |
5 |
150,724,239 (GRCm39) |
missense |
probably benign |
0.38 |
|
R9184:Pds5b
|
UTSW |
5 |
150,724,249 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9343:Pds5b
|
UTSW |
5 |
150,704,186 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9432:Pds5b
|
UTSW |
5 |
150,693,256 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9571:Pds5b
|
UTSW |
5 |
150,645,971 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9712:Pds5b
|
UTSW |
5 |
150,729,128 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCAGTCTGAGTTGGAGAAGC -3'
(R):5'- GCACACACTCACCTCTGTTG -3'
Sequencing Primer
(F):5'- TCTGAGTTGGAGAAGCCTAGAAGTC -3'
(R):5'- GACTTATGTTCTGTGTTTCCAATTTG -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation