Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03395:Pds5a'

421209

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 #

IGL03395

Quality Score

Status

Chromosome

Chromosomal Location

65763062-65855579 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 65809792 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 390 (D390G)

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: D390G

PolyPhen 2 Score 0.607 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000031104
Gene: ENSMUSG00000029202
AA Change: D390G

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: ENSMUST00000200766

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200790

Predicted Effect

possibly damaging
Transcript: ENSMUST00000201948
AA Change: D390G

PolyPhen 2 Score 0.607 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000144171
Gene: ENSMUSG00000029202
AA Change: D390G

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam11	A	G	11: 102,663,746 (GRCm39)	D308G	probably damaging	Het
Adgrg3	A	T	8: 95,761,701 (GRCm39)	I155F	probably damaging	Het
Ado	T	C	10: 67,384,368 (GRCm39)	Y79C	probably benign	Het
Aox1	T	C	1: 58,107,884 (GRCm39)		probably benign	Het
Bicd2	T	A	13: 49,528,734 (GRCm39)	D165E	probably damaging	Het
Ccdc124	A	C	8: 71,321,251 (GRCm39)	M163R	probably benign	Het
Ceacam5	T	C	7: 17,479,304 (GRCm39)		probably benign	Het
Cenpq	A	G	17: 41,234,449 (GRCm39)	L247P	probably damaging	Het
Crat	A	G	2: 30,294,978 (GRCm39)	V479A	probably benign	Het
Egfr	T	C	11: 16,860,261 (GRCm39)		probably benign	Het
Elapor2	A	T	5: 9,472,359 (GRCm39)	Q352L	probably damaging	Het
Emc9	C	T	14: 55,822,197 (GRCm39)	A72T	probably benign	Het
Fbxo5	G	A	10: 5,751,935 (GRCm39)	S226F	probably benign	Het
Gm42688	A	C	6: 83,085,352 (GRCm39)	E737D	possibly damaging	Het
Got1l1	G	T	8: 27,690,885 (GRCm39)	H54Q	probably benign	Het
Grid2	G	A	6: 63,886,053 (GRCm39)	V150I	possibly damaging	Het
Klc4	C	T	17: 46,943,789 (GRCm39)	V506M	probably damaging	Het
Lrrc8c	A	G	5: 105,754,495 (GRCm39)	N90S	probably benign	Het
Lrrk2	T	A	15: 91,681,617 (GRCm39)		probably null	Het
Mbd6	G	A	10: 127,119,286 (GRCm39)	R950C	probably damaging	Het
Nol11	A	G	11: 107,066,548 (GRCm39)	V414A	probably benign	Het
Or7e178	A	T	9: 20,225,847 (GRCm39)	M123K	probably damaging	Het
Pcnt	T	C	10: 76,272,325 (GRCm39)	E177G	possibly damaging	Het
Pcnx2	G	T	8: 126,614,262 (GRCm39)	D396E	probably benign	Het
Pcyt2	A	T	11: 120,503,876 (GRCm39)		probably null	Het
Pik3r2	T	C	8: 71,224,999 (GRCm39)	T155A	probably benign	Het
Rab31	T	A	17: 66,003,362 (GRCm39)	H95L	probably benign	Het
Rfx5	C	T	3: 94,865,113 (GRCm39)	R259*	probably null	Het
Slc6a17	T	C	3: 107,384,622 (GRCm39)	D285G	probably damaging	Het
Spats2l	A	T	1: 57,977,175 (GRCm39)	I318F	probably damaging	Het
Spef1l	G	T	7: 139,556,589 (GRCm39)		probably benign	Het
Tcf12	A	G	9: 71,783,304 (GRCm39)	S361P	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
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

2016-08-02