Mutagenetix > Incidental Mutation

Incidental Mutation 'R4160:Pds5a'

315696

Institutional Source

Beutler Lab

Gene Symbol

Pds5a

Ensembl Gene

ENSMUSG00000029202

Gene Name

PDS5 cohesin associated factor A

Synonyms

9030416H16Rik, E230024D05Rik

MMRRC Submission

041003-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4160 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

65763062-65855579 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 65821839 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 120 (T120A)

Ref Sequence

ENSEMBL: ENSMUSP00000144171 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000031104
AA Change: T120A

PolyPhen 2 Score 0.751 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000031104
Gene: ENSMUSG00000029202
AA Change: T120A

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

noncoding transcript
Transcript: ENSMUST00000201034

Predicted Effect

possibly damaging
Transcript: ENSMUST00000201948
AA Change: T120A

PolyPhen 2 Score 0.751 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000144171
Gene: ENSMUSG00000029202
AA Change: T120A

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

Meta Mutation Damage Score

0.1331

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

89% (34/38)

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrf4	G	T	17: 42,978,568 (GRCm39)	H258Q	probably benign	Het
Ankrd1	T	A	19: 36,095,273 (GRCm39)	K138N	probably damaging	Het
Arhgef19	T	C	4: 140,973,660 (GRCm39)	I49T	possibly damaging	Het
Bltp3a	A	G	17: 28,103,061 (GRCm39)	Y365C	probably damaging	Het
Cacnb3	G	T	15: 98,538,601 (GRCm39)	G148C	probably damaging	Het
Cep350	G	A	1: 155,808,621 (GRCm39)	R652W	probably damaging	Het
Cyp19a1	G	A	9: 54,093,980 (GRCm39)	T94I	probably damaging	Het
D130043K22Rik	A	C	13: 25,046,679 (GRCm39)	E360D	probably benign	Het
Dse	A	G	10: 34,029,330 (GRCm39)	F587L	probably damaging	Het
Efcab14	A	C	4: 115,597,594 (GRCm39)	D63A	probably damaging	Het
Ibtk	T	C	9: 85,585,143 (GRCm39)	E1167G	probably benign	Het
Ikzf4	A	T	10: 128,479,605 (GRCm39)		probably benign	Het
Magi3	T	C	3: 103,958,277 (GRCm39)	K603E	probably damaging	Het
Myh13	T	C	11: 67,255,636 (GRCm39)		probably benign	Het
Nox4	A	T	7: 87,046,032 (GRCm39)	H557L	possibly damaging	Het
Oasl1	A	G	5: 115,075,073 (GRCm39)	K378E	possibly damaging	Het
Pdia3	A	T	2: 121,244,596 (GRCm39)	D26V	probably damaging	Het
Phf8-ps	G	A	17: 33,285,023 (GRCm39)	T593I	probably benign	Het
Pkn2	G	A	3: 142,509,325 (GRCm39)	P740S	probably benign	Het
Pla2r1	A	T	2: 60,252,966 (GRCm39)	I1375K	probably damaging	Het
Pld2	T	C	11: 70,432,253 (GRCm39)	L124P	probably damaging	Het
Ppp6r3	T	A	19: 3,562,037 (GRCm39)	H208L	probably damaging	Het
Prr36	G	T	8: 4,262,910 (GRCm39)	Q919K	probably benign	Het
Ptpn1	T	C	2: 167,809,731 (GRCm39)	I113T	probably benign	Het
Ptprz1	T	C	6: 23,022,204 (GRCm39)	I844T	possibly damaging	Het
Rbl1	A	G	2: 157,034,039 (GRCm39)		probably benign	Het
Sdk1	A	G	5: 142,100,154 (GRCm39)	I1395V	probably benign	Het
Senp7	C	A	16: 55,973,832 (GRCm39)	P351Q	possibly damaging	Het
Slc26a7	T	C	4: 14,544,197 (GRCm39)	T369A	probably benign	Het
Tnxb	A	G	17: 34,930,491 (GRCm39)	T2059A	probably damaging	Het
Vat1l	T	A	8: 115,098,469 (GRCm39)	M413K	probably benign	Het
Vps11	C	G	9: 44,267,017 (GRCm39)	G406A	probably damaging	Het
Wnk2	C	T	13: 49,244,313 (GRCm39)	D508N	probably damaging	Het

Other mutations in Pds5a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00589:Pds5a	APN	5	65,813,687 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- GCTGTGGCATCAACTTTCATG -3'
(R):5'- TAGGCAGTCCCACAGCATTC -3'

Sequencing Primer
(F):5'- AAACTTCGGGAGCAGTAA -3'
(R):5'- GTCCCACAGCATTCAAATAAAGG -3'

Posted On

2015-05-14