Incidental Mutation 'IGL02825:Pds5b'
ID 361176
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pds5b
Ensembl Gene ENSMUSG00000034021
Gene Name PDS5 cohesin associated factor B
Synonyms Aprin, AS3
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02825
Quality Score
Status
Chromosome 5
Chromosomal Location 150597204-150734155 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 150652435 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 234 (T234I)
Ref Sequence ENSEMBL: ENSMUSP00000144572 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016569] [ENSMUST00000038900] [ENSMUST00000202170]
AlphaFold Q4VA53
Predicted Effect possibly damaging
Transcript: ENSMUST00000016569
AA Change: T234I

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000016569
Gene: ENSMUSG00000034021
AA Change: T234I

DomainStartEndE-ValueType
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: T234I

PolyPhen 2 Score 0.709 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000038421
Gene: ENSMUSG00000034021
AA Change: T234I

DomainStartEndE-ValueType
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 possibly damaging
Transcript: ENSMUST00000202170
AA Change: T234I

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000144572
Gene: ENSMUSG00000034021
AA Change: T234I

DomainStartEndE-ValueType
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
Validation Efficiency
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abo A G 2: 26,733,710 (GRCm39) V163A possibly damaging Het
Ap1b1 G T 11: 4,983,738 (GRCm39) A664S possibly damaging Het
B3gnt4 T C 5: 123,649,114 (GRCm39) F160L possibly damaging Het
Brd3 T C 2: 27,339,275 (GRCm39) E685G probably damaging Het
Cacna2d2 C T 9: 107,401,659 (GRCm39) R746C probably damaging Het
Ces1d C A 8: 93,896,346 (GRCm39) probably null Het
Chl1 T A 6: 103,645,764 (GRCm39) V268E possibly damaging Het
Cpb1 T A 3: 20,303,889 (GRCm39) I392F probably damaging Het
Dnai1 T C 4: 41,625,101 (GRCm39) probably benign Het
Dync2h1 T C 9: 6,955,901 (GRCm39) probably benign Het
Edc4 T C 8: 106,617,243 (GRCm39) S1021P probably damaging Het
Exoc7 A C 11: 116,188,411 (GRCm39) L296R probably damaging Het
Fgd5 A G 6: 92,015,068 (GRCm39) probably null Het
Gm28042 T A 2: 119,862,125 (GRCm39) M232K probably damaging Het
Ints1 A T 5: 139,750,494 (GRCm39) S888T probably benign Het
Kirrel1 A T 3: 86,996,595 (GRCm39) probably benign Het
Lrp1 C T 10: 127,378,474 (GRCm39) R4037Q probably damaging Het
Lrrc37 G A 11: 103,507,894 (GRCm39) probably benign Het
Lrrn3 A T 12: 41,502,592 (GRCm39) V575D probably damaging Het
Mapk11 A G 15: 89,030,585 (GRCm39) Y103H probably damaging Het
Mrpl19 G T 6: 81,942,796 (GRCm39) T38K probably benign Het
Nefl A T 14: 68,321,795 (GRCm39) K128N possibly damaging Het
Olfm1 A G 2: 28,119,090 (GRCm39) N242D probably damaging Het
Oprd1 T A 4: 131,844,670 (GRCm39) T113S probably damaging Het
Or10d1 A T 9: 39,483,877 (GRCm39) I226N probably damaging Het
Or52s19 T C 7: 103,007,568 (GRCm39) I278V probably benign Het
Prpf3 A T 3: 95,760,792 (GRCm39) C37S probably damaging Het
Rpgrip1l G A 8: 92,031,433 (GRCm39) T148M possibly damaging Het
Rph3a T C 5: 121,083,509 (GRCm39) K587R possibly damaging Het
Scn3b T C 9: 40,188,441 (GRCm39) C5R probably damaging Het
Sirpa C T 2: 129,457,372 (GRCm39) P149S probably damaging Het
Slco1a1 A T 6: 141,864,343 (GRCm39) C486S probably damaging Het
Spin1 C A 13: 51,277,332 (GRCm39) probably benign Het
Stom C A 2: 35,211,644 (GRCm39) V126F probably damaging Het
Tom1 A G 8: 75,783,883 (GRCm39) D64G probably damaging Het
Trbv4 T A 6: 41,036,613 (GRCm39) L46Q probably damaging Het
Trhr A T 15: 44,092,921 (GRCm39) D386V possibly damaging Het
Vmn2r101 T A 17: 19,810,132 (GRCm39) I306N probably benign Het
Vmn2r51 C T 7: 9,832,046 (GRCm39) probably benign Het
Vmn2r63 A G 7: 42,576,274 (GRCm39) probably null Het
Zfp277 T C 12: 40,367,175 (GRCm39) K494E probably benign Het
Zranb3 A T 1: 127,887,489 (GRCm39) S979R probably benign Het
Other mutations in Pds5b
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
R6139:Pds5b UTSW 5 150,724,242 (GRCm39) missense possibly damaging 0.81
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
Posted On 2015-12-18