Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00589:Pds5a'

6427

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pds5a

Ensembl Gene

ENSMUSG00000029202

Gene Name

PDS5 cohesin associated factor A

Synonyms

9030416H16Rik, E230024D05Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00589

Quality Score

Status

Chromosome

Chromosomal Location

65763062-65855579 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 65813687 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 266 (D266G)

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: D266G

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

SMART Domains

Protein: ENSMUSP00000031104
Gene: ENSMUSG00000029202
AA Change: D266G

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: ENSMUST00000157869

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200790

Predicted Effect

probably damaging
Transcript: ENSMUST00000201948
AA Change: D266G

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

SMART Domains

Protein: ENSMUSP00000144171
Gene: ENSMUSG00000029202
AA Change: D266G

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

Coding Region Coverage

Validation Efficiency

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: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot9	A	T	X: 154,078,236 (GRCm39)	I261L	possibly damaging	Het
Adcy8	A	T	15: 64,659,216 (GRCm39)	F525I	probably damaging	Het
Ahr	A	T	12: 35,554,096 (GRCm39)	Y674*	probably null	Het
Baz1b	A	G	5: 135,225,346 (GRCm39)	E43G	possibly damaging	Het
Ccz1	T	C	5: 143,949,713 (GRCm39)	T72A	probably damaging	Het
Chd9	G	A	8: 91,742,474 (GRCm39)	R1629H	probably damaging	Het
Ell3	A	T	2: 121,270,761 (GRCm39)	D257E	probably benign	Het
Fbxw26	T	C	9: 109,547,016 (GRCm39)		probably benign	Het
Isg20	G	A	7: 78,566,332 (GRCm39)	D94N	probably damaging	Het
Mettl13	A	T	1: 162,369,960 (GRCm39)	S392R	probably damaging	Het
Ms4a1	T	A	19: 11,231,923 (GRCm39)	T151S	probably benign	Het
Nphp1	A	G	2: 127,605,769 (GRCm39)	I352T	probably damaging	Het
Or1e1	T	A	11: 73,244,869 (GRCm39)	C97S	probably damaging	Het
Rnf103	T	C	6: 71,486,067 (GRCm39)	Y233H	probably benign	Het
Rwdd4a	A	T	8: 47,997,219 (GRCm39)	E146V	probably damaging	Het
Serpinb1c	T	C	13: 33,067,958 (GRCm39)	K213E	probably damaging	Het
Slc17a5	T	C	9: 78,485,816 (GRCm39)	I90V	probably benign	Het
Slc38a3	G	A	9: 107,535,876 (GRCm39)	L86F	probably damaging	Het
Tbc1d2b	T	C	9: 90,108,262 (GRCm39)	T430A	probably benign	Het
Utrn	C	T	10: 12,554,362 (GRCm39)	V1576M	possibly damaging	Het
Vwa8	T	A	14: 79,275,635 (GRCm39)	L806Q	probably damaging	Het

Other mutations in Pds5a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2012-04-20