Mutagenetix > Incidental Mutations

Incidental Mutation 'R0569:Pds5a'

46296

Institutional Source

Beutler Lab

Gene Symbol

Pds5a

Ensembl Gene

ENSMUSG00000029202

Gene Name

PDS5 cohesin associated factor A

Synonyms

9030416H16Rik, E230024D05Rik

MMRRC Submission

038760-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R0569 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

65605721-65698273 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 65656401 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Threonine at position 247 (N247T)

Ref Sequence

ENSEMBL: ENSMUSP00000144171 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031104] [ENSMUST00000201948]

Predicted Effect

probably damaging
Transcript: ENSMUST00000031104
AA Change: N247T

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

SMART Domains

Protein: ENSMUSP00000031104
Gene: ENSMUSG00000029202
AA Change: N247T

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: N247T

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

SMART Domains

Protein: ENSMUSP00000144171
Gene: ENSMUSG00000029202
AA Change: N247T

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

Meta Mutation Damage Score

0.2535

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.8%

Validation Efficiency

97% (56/58)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	A	G	13: 119,484,480	I572M	possibly damaging	Het
4930447A16Rik	T	C	15: 37,425,619	M1T	probably null	Het
4930590J08Rik	C	A	6: 91,942,578	C739*	probably null	Het
Adcy1	T	A	11: 7,146,514	V634E	probably benign	Het
Ankfy1	T	A	11: 72,753,608	H710Q	possibly damaging	Het
Ankrd60	C	T	2: 173,571,066	V90M	probably damaging	Het
Asgr2	A	T	11: 70,097,877	Q132L	probably benign	Het
Cchcr1	T	A	17: 35,528,968		probably null	Het
Ces1h	T	C	8: 93,352,146	K523E	unknown	Het
Clec3a	G	T	8: 114,425,736	G161C	probably damaging	Het
Cracr2b	G	A	7: 141,464,935		probably benign	Het
Cyp2b10	A	T	7: 25,897,735	L17F	probably damaging	Het
Dhx29	T	A	13: 112,948,214	N655K	probably benign	Het
Dst	C	A	1: 34,293,427	L4748I	probably damaging	Het
Eif2b5	G	C	16: 20,502,553	L285F	probably benign	Het
Enox1	T	A	14: 77,637,677	D441E	probably damaging	Het
Fam110a	T	C	2: 151,970,484	E122G	probably damaging	Het
Fam161b	T	A	12: 84,348,639	E510V	probably damaging	Het
Gabrd	T	C	4: 155,385,423	Y443C	probably damaging	Het
Gcn1l1	T	G	5: 115,595,059	S1052A	probably benign	Het
Gnptab	A	G	10: 88,428,557	E279G	possibly damaging	Het
Hoxa6	T	A	6: 52,208,183		probably null	Het
Ibtk	T	A	9: 85,708,181		probably benign	Het
Il6ra	A	T	3: 89,877,842		probably null	Het
Iqgap3	C	T	3: 88,090,725		probably benign	Het
Kcnk2	A	C	1: 189,339,801	L110R	probably damaging	Het
Knl1	T	A	2: 119,097,435	V1919D	possibly damaging	Het
Lrp1b	A	T	2: 40,889,239	L2597Q	probably benign	Het
Magi3	A	G	3: 104,016,042	S1120P	probably benign	Het
Map3k8	T	C	18: 4,349,162	D52G	probably benign	Het
Mcat	C	T	15: 83,549,248	R198H	probably benign	Het
Mnd1	A	G	3: 84,104,979	V141A	probably benign	Het
Morc1	T	C	16: 48,587,122	L667P	probably benign	Het
Mrps6	A	G	16: 92,111,920	K125E	possibly damaging	Het
Mst1	T	C	9: 108,082,301	F262S	probably damaging	Het
Olfr1052	T	G	2: 86,298,597	I260M	probably damaging	Het
Olfr18	T	A	9: 20,314,579	I114F	probably damaging	Het
Pbsn	C	G	X: 77,853,440	G15A	possibly damaging	Het
Pcnx	T	C	12: 81,992,030	I2023T	probably benign	Het
Peak1	T	C	9: 56,260,089	Y185C	probably damaging	Het
Phkb	T	A	8: 86,017,402	I560N	probably damaging	Het
Plekhn1	T	C	4: 156,225,201	I160V	probably damaging	Het
Rabgap1	T	G	2: 37,489,717		probably benign	Het
Rdh10	T	G	1: 16,129,293	V241G	probably damaging	Het
Selenow	A	T	7: 15,920,117	C37S	probably benign	Het
Sema6a	A	T	18: 47,270,805		probably null	Het
Slc12a3	T	C	8: 94,330,525		probably null	Het
Slc22a21	T	G	11: 53,951,810	M498L	probably benign	Het
Spink5	A	T	18: 43,989,419	N317I	probably damaging	Het
Srek1	A	G	13: 103,748,862		probably benign	Het
Syt11	A	G	3: 88,747,923	V357A	probably benign	Het
Tcof1	T	A	18: 60,829,035	K707N	possibly damaging	Het
Tfip11	C	T	5: 112,328,094	R42C	probably damaging	Het
Trim39	T	C	17: 36,263,731	K260E	probably benign	Het
Ttn	T	C	2: 76,723,319	T22658A	possibly damaging	Het
Unc45b	C	T	11: 82,936,812		probably benign	Het
Vmn1r236	A	G	17: 21,286,910	I97V	probably benign	Het
Vps13c	T	C	9: 67,973,719	V657A	probably damaging	Het
Zkscan2	A	G	7: 123,498,675	V166A	probably benign	Het

Other mutations in Pds5a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00589:Pds5a	APN	5	65656344	missense	probably damaging	1.00
IGL00979:Pds5a	APN	5	65631723	missense	probably benign	0.22
IGL01314:Pds5a	APN	5	65615294	missense	probably benign
IGL02449:Pds5a	APN	5	65619010	missense	probably damaging	1.00
IGL02539:Pds5a	APN	5	65666119	missense	probably damaging	1.00
IGL03395:Pds5a	APN	5	65652449	missense	possibly damaging	0.61
R0704:Pds5a	UTSW	5	65620585	missense	probably damaging	1.00
R1170:Pds5a	UTSW	5	65635302	splice site	probably benign
R1181:Pds5a	UTSW	5	65627202	splice site	probably null
R1193:Pds5a	UTSW	5	65637802	missense	probably damaging	1.00
R1537:Pds5a	UTSW	5	65647121	missense	probably benign	0.09
R1853:Pds5a	UTSW	5	65624029	missense	possibly damaging	0.56
R2016:Pds5a	UTSW	5	65648007	critical splice acceptor site	probably null
R2154:Pds5a	UTSW	5	65650498	missense	probably damaging	1.00
R2209:Pds5a	UTSW	5	65628014	nonsense	probably null
R2234:Pds5a	UTSW	5	65654098	missense	probably damaging	1.00
R2235:Pds5a	UTSW	5	65654098	missense	probably damaging	1.00
R2332:Pds5a	UTSW	5	65627079	splice site	probably null
R3114:Pds5a	UTSW	5	65618985	missense	probably damaging	1.00
R3417:Pds5a	UTSW	5	65637892	missense	probably damaging	0.99
R3820:Pds5a	UTSW	5	65654076	missense	possibly damaging	0.94
R4152:Pds5a	UTSW	5	65666171	nonsense	probably null
R4159:Pds5a	UTSW	5	65664496	missense	possibly damaging	0.75
R4160:Pds5a	UTSW	5	65664496	missense	possibly damaging	0.75
R4161:Pds5a	UTSW	5	65664496	missense	possibly damaging	0.75
R4230:Pds5a	UTSW	5	65629986	missense	possibly damaging	0.85
R4491:Pds5a	UTSW	5	65635437	missense	probably benign
R4647:Pds5a	UTSW	5	65656318	missense	probably damaging	1.00
R4816:Pds5a	UTSW	5	65651289	missense	probably damaging	1.00
R4867:Pds5a	UTSW	5	65644120	missense	probably damaging	1.00
R5001:Pds5a	UTSW	5	65696785	missense	probably damaging	0.99
R5013:Pds5a	UTSW	5	65635337	missense	probably benign	0.05
R5054:Pds5a	UTSW	5	65637814	missense	probably damaging	1.00
R5068:Pds5a	UTSW	5	65615272	missense	probably damaging	0.99
R5178:Pds5a	UTSW	5	65663875	missense	probably damaging	1.00
R5269:Pds5a	UTSW	5	65663928	missense	probably damaging	1.00
R5396:Pds5a	UTSW	5	65638577	missense	probably benign	0.09
R5704:Pds5a	UTSW	5	65627079	splice site	probably null
R5940:Pds5a	UTSW	5	65643985	intron	probably benign
R6306:Pds5a	UTSW	5	65656296	missense	probably damaging	1.00
R6322:Pds5a	UTSW	5	65696834	missense	probably benign	0.00
R6467:Pds5a	UTSW	5	65652439	missense	probably damaging	1.00
R6476:Pds5a	UTSW	5	65634287	missense	possibly damaging	0.94
R6513:Pds5a	UTSW	5	65615601	missense	probably benign	0.18
R7304:Pds5a	UTSW	5	65619734	missense	probably damaging	1.00
R7312:Pds5a	UTSW	5	65666227	missense	possibly damaging	0.81
R7438:Pds5a	UTSW	5	65652535	critical splice acceptor site	probably null
R7637:Pds5a	UTSW	5	65638604	missense	probably benign	0.12
R7654:Pds5a	UTSW	5	65618981	missense	probably damaging	1.00
R7707:Pds5a	UTSW	5	65610133	missense	unknown
R7715:Pds5a	UTSW	5	65638561	missense	possibly damaging	0.96
R7748:Pds5a	UTSW	5	65619666	missense	possibly damaging	0.93
Z1088:Pds5a	UTSW	5	65618986	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACATCTCCTTCCACTGTTTATCAGCAGA -3'
(R):5'- AAGCATAACCCGTTGGCAtgtttttt -3'

Sequencing Primer
(F):5'- GTTTATCAGCAGATAACAACTAGGG -3'
(R):5'- TGGGTAATGCTCAATCAGTCTTT -3'

Posted On

2013-06-11