Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03379:Pds5b'

420610

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 #

IGL03379

Quality Score

Status

Chromosome

Chromosomal Location

150597204-150734155 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 150711796 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 918 (V918A)

Ref Sequence

ENSEMBL: ENSMUSP00000144572 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000016569] [ENSMUST00000038900] [ENSMUST00000110486] [ENSMUST00000202170]

AlphaFold

Q4VA53

Predicted Effect

probably damaging
Transcript: ENSMUST00000016569
AA Change: V918A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000016569
Gene: ENSMUSG00000034021
AA Change: V918A

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

probably damaging
Transcript: ENSMUST00000038900
AA Change: V918A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000038421
Gene: ENSMUSG00000034021
AA Change: V918A

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 damaging
Transcript: ENSMUST00000110486
AA Change: V389A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000106112
Gene: ENSMUSG00000034021
AA Change: V389A

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

probably damaging
Transcript: ENSMUST00000202170
AA Change: V918A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000144572
Gene: ENSMUSG00000034021
AA Change: V918A

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

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ank3	A	G	10: 69,809,602 (GRCm39)	T260A	probably damaging	Het
Arhgap21	A	G	2: 20,885,500 (GRCm39)	V559A	probably benign	Het
Arrdc5	G	A	17: 56,601,589 (GRCm39)	Q179*	probably null	Het
Atrnl1	T	C	19: 57,630,973 (GRCm39)	Y247H	probably benign	Het
Bend5	T	A	4: 111,311,468 (GRCm39)	S361T	probably benign	Het
Cdc20b	A	G	13: 113,217,736 (GRCm39)	D385G	probably damaging	Het
Cep120	C	T	18: 53,842,208 (GRCm39)	S709N	probably benign	Het
Eif2b4	A	G	5: 31,347,355 (GRCm39)		probably benign	Het
Eif2s1	T	A	12: 78,913,354 (GRCm39)	D18E	probably benign	Het
Etl4	G	A	2: 20,666,827 (GRCm39)	S209N	possibly damaging	Het
Farp2	T	A	1: 93,535,160 (GRCm39)	F636L	probably benign	Het
Fcgbp	A	T	7: 27,789,342 (GRCm39)	D636V	possibly damaging	Het
Gm5082	T	C	13: 41,809,902 (GRCm39)		noncoding transcript	Het
Gtf2ird1	C	T	5: 134,411,392 (GRCm39)	G672D	possibly damaging	Het
Heatr3	A	G	8: 88,876,738 (GRCm39)	K143R	probably benign	Het
Hrc	A	G	7: 44,986,679 (GRCm39)	E610G	probably benign	Het
Ica1l	G	A	1: 60,036,780 (GRCm39)	S337F	probably benign	Het
Ighv1-43	T	C	12: 114,909,625 (GRCm39)	Y99C	probably benign	Het
Kcna3	T	A	3: 106,944,521 (GRCm39)	F261L	probably benign	Het
Kdm4d	T	C	9: 14,375,139 (GRCm39)	R240G	probably damaging	Het
Kidins220	T	A	12: 25,058,447 (GRCm39)	I620N	probably damaging	Het
Kif5c	A	G	2: 49,591,104 (GRCm39)	M55V	probably damaging	Het
Oas1a	A	T	5: 121,035,062 (GRCm39)	L366Q	possibly damaging	Het
Or5p68	T	C	7: 107,946,196 (GRCm39)		probably benign	Het
Plcz1	G	A	6: 139,936,490 (GRCm39)	L580F	possibly damaging	Het
Prlr	C	A	15: 10,319,403 (GRCm39)	P147T	possibly damaging	Het
Ptpn18	A	T	1: 34,509,338 (GRCm39)		probably null	Het
Ptprt	A	T	2: 161,397,379 (GRCm39)	C1109*	probably null	Het
Ralgapa2	A	T	2: 146,199,907 (GRCm39)	S1212R	probably benign	Het
Scn2b	T	A	9: 45,037,498 (GRCm39)	C182S	probably damaging	Het
Slc7a14	A	T	3: 31,277,664 (GRCm39)	M647K	probably damaging	Het
Sult2a6	G	A	7: 13,956,511 (GRCm39)	T250I	probably benign	Het
Syn3	A	T	10: 85,900,736 (GRCm39)	M384K	possibly damaging	Het
Tmem8b	A	G	4: 43,685,561 (GRCm39)	T596A	probably benign	Het
Tnpo1	C	T	13: 99,000,348 (GRCm39)	E340K	probably damaging	Het
Vat1l	A	T	8: 115,009,006 (GRCm39)	I247F	probably damaging	Het
Vmn2r110	T	C	17: 20,803,906 (GRCm39)	D223G	probably damaging	Het
Wdr11	T	A	7: 129,200,847 (GRCm39)	D99E	probably damaging	Het
Zan	C	T	5: 137,462,477 (GRCm39)	V901I	unknown	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
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

2016-08-02