Mutagenetix > Incidental Mutation

Incidental Mutation 'R5001:Pds5a'

389894

Institutional Source

Beutler Lab

Gene Symbol

Pds5a

Ensembl Gene

ENSMUSG00000029202

Gene Name

PDS5 cohesin associated factor A

Synonyms

9030416H16Rik, E230024D05Rik

MMRRC Submission

042595-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5001 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

65763062-65855579 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 65854128 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 38 (D38G)

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: D38G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000031104
Gene: ENSMUSG00000029202
AA Change: D38G

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: ENSMUST00000200790

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201034

Predicted Effect

probably damaging
Transcript: ENSMUST00000201948
AA Change: D38G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000144171
Gene: ENSMUSG00000029202
AA Change: D38G

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

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.7%

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: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy3	G	A	12: 4,248,434 (GRCm39)	V499M	possibly damaging	Het
Aff4	T	C	11: 53,295,184 (GRCm39)	S795P	probably damaging	Het
Ank	G	A	15: 27,562,819 (GRCm39)	V176I	probably damaging	Het
Ankfn1	A	G	11: 89,332,268 (GRCm39)	I446T	possibly damaging	Het
Arhgap33	C	A	7: 30,232,441 (GRCm39)	S32I	possibly damaging	Het
Ascc3	T	A	10: 50,699,744 (GRCm39)	Y1856N	probably damaging	Het
Atf3	T	C	1: 190,909,472 (GRCm39)	T66A	probably benign	Het
Atf7ip	T	C	6: 136,538,386 (GRCm39)	C548R	probably damaging	Het
Bag6	A	G	17: 35,364,152 (GRCm39)	T841A	probably damaging	Het
Bbof1	A	T	12: 84,473,630 (GRCm39)	Q320L	possibly damaging	Het
Bmp2k	A	T	5: 97,201,001 (GRCm39)	Q307L	probably damaging	Het
Btaf1	T	A	19: 36,964,052 (GRCm39)	N874K	possibly damaging	Het
Calr4	G	A	4: 109,096,179 (GRCm39)		probably null	Het
Camk1d	T	C	2: 5,317,912 (GRCm39)	I248V	possibly damaging	Het
Ccdc177	G	A	12: 80,804,160 (GRCm39)	R705C	unknown	Het
Cdk18	C	T	1: 132,046,587 (GRCm39)		probably null	Het
Cers4	A	G	8: 4,565,565 (GRCm39)	S4G	probably benign	Het
Cfap54	A	G	10: 92,800,396 (GRCm39)	V1604A	probably benign	Het
Chd8	C	T	14: 52,441,372 (GRCm39)	G907S	probably benign	Het
Cilk1	T	C	9: 78,038,801 (GRCm39)	S17P	probably damaging	Het
Cnksr3	G	A	10: 7,076,746 (GRCm39)	Q149*	probably null	Het
Cntd1	T	C	11: 101,176,557 (GRCm39)	V218A	possibly damaging	Het
Cog7	A	T	7: 121,549,109 (GRCm39)	V384E	probably damaging	Het
Col5a2	A	G	1: 45,542,058 (GRCm39)	V6A	unknown	Het
Col7a1	T	C	9: 108,794,146 (GRCm39)		probably null	Het
Cpsf6	T	A	10: 117,203,866 (GRCm39)	I29L	possibly damaging	Het
Cyp3a13	T	C	5: 137,897,178 (GRCm39)	T379A	probably benign	Het
Ddx46	T	C	13: 55,800,732 (GRCm39)	S296P	probably damaging	Het
Dmbt1	A	G	7: 130,651,742 (GRCm39)	D328G	probably damaging	Het
Dnah8	T	G	17: 31,006,159 (GRCm39)	L3692W	probably damaging	Het
Dnmt3l	A	C	10: 77,895,565 (GRCm39)	S368R	probably null	Het
Egfr	A	G	11: 16,854,434 (GRCm39)	K869E	probably damaging	Het
Ehd1	G	A	19: 6,347,724 (GRCm39)	M359I	probably benign	Het
F5	A	T	1: 164,023,139 (GRCm39)	T1566S	probably benign	Het
Flrt2	T	C	12: 95,745,725 (GRCm39)	I21T	probably benign	Het
Galnt1	T	A	18: 24,404,812 (GRCm39)	I383K	probably benign	Het
Ghdc	G	T	11: 100,657,660 (GRCm39)	A523D	probably damaging	Het
Gm24022	A	G	12: 113,393,399 (GRCm39)		probably benign	Het
Golga3	T	C	5: 110,353,643 (GRCm39)	S934P	probably damaging	Het
Gpr135	T	A	12: 72,117,282 (GRCm39)	T162S	probably benign	Het
Gucd1	G	A	10: 75,353,036 (GRCm39)		probably null	Het
Hcrtr2	T	A	9: 76,137,886 (GRCm39)	I410F	probably benign	Het
Igkv6-15	T	C	6: 70,383,633 (GRCm39)	Y56C	probably damaging	Het
Il22ra1	A	T	4: 135,460,415 (GRCm39)	Y57F	probably damaging	Het
Irak4	A	G	15: 94,456,154 (GRCm39)	E247G	possibly damaging	Het
Kank3	T	C	17: 34,040,746 (GRCm39)	V13A	possibly damaging	Het
Klhl1	A	T	14: 96,374,046 (GRCm39)	S667T	probably damaging	Het
Klhl6	T	G	16: 19,765,741 (GRCm39)	*620C	probably null	Het
Lct	A	G	1: 128,235,978 (GRCm39)	L343P	probably damaging	Het
Lgr6	G	T	1: 134,918,370 (GRCm39)	P264T	probably benign	Het
Lilrb4a	T	A	10: 51,367,516 (GRCm39)		probably null	Het
Lin7a	G	T	10: 107,218,530 (GRCm39)	G25*	probably null	Het
Lmnb2	G	A	10: 80,753,946 (GRCm39)	T36M	probably damaging	Het
Manba	T	C	3: 135,273,391 (GRCm39)	F775S	probably benign	Het
Marchf6	A	G	15: 31,465,468 (GRCm39)	V812A	probably damaging	Het
Megf6	T	A	4: 154,352,517 (GRCm39)	L1292H	probably damaging	Het
Myo18b	T	G	5: 112,909,206 (GRCm39)	Q1979P	probably damaging	Het
Myoz1	T	C	14: 20,703,769 (GRCm39)	M59V	probably damaging	Het
Naa35	T	C	13: 59,773,345 (GRCm39)	I100T	possibly damaging	Het
Nox4	A	T	7: 87,010,011 (GRCm39)	Y404F	probably damaging	Het
Ntn1	T	C	11: 68,151,358 (GRCm39)	Y441C	probably damaging	Het
Onecut3	A	G	10: 80,331,154 (GRCm39)	T105A	unknown	Het
Or10ak8	C	A	4: 118,774,440 (GRCm39)	V75F	probably damaging	Het
Or1n1	T	C	2: 36,750,082 (GRCm39)	T93A	probably benign	Het
Or4d5	G	A	9: 40,012,523 (GRCm39)	H88Y	probably benign	Het
Pabpc1l	A	G	2: 163,884,438 (GRCm39)	S392G	probably benign	Het
Pan3	T	A	5: 147,463,492 (GRCm39)		probably null	Het
Pcdha4	G	A	18: 37,088,001 (GRCm39)	S728N	probably benign	Het
Pgm2l1	A	G	7: 99,921,583 (GRCm39)	I605V	probably benign	Het
Phip	T	C	9: 82,778,072 (GRCm39)		probably null	Het
Pilra	T	C	5: 137,833,777 (GRCm39)	I96M	probably damaging	Het
Ppig	T	A	2: 69,571,830 (GRCm39)	V183D	unknown	Het
Ppp2r2a	A	T	14: 67,259,757 (GRCm39)	L313*	probably null	Het
Ppp4c	A	G	7: 126,386,709 (GRCm39)	F126S	probably damaging	Het
Ptger2	C	A	14: 45,226,824 (GRCm39)	R135S	probably damaging	Het
Rab11fip5	T	A	6: 85,324,788 (GRCm39)	E506D	probably damaging	Het
Rdh12	G	A	12: 79,259,516 (GRCm39)	G133R	probably damaging	Het
Rims2	A	T	15: 39,315,824 (GRCm39)	D610V	probably benign	Het
Saa1	T	A	7: 46,390,132 (GRCm39)	Y122F	probably damaging	Het
Septin10	A	T	10: 59,012,811 (GRCm39)	V269E	probably damaging	Het
Serpina3n	T	A	12: 104,374,998 (GRCm39)	D23E	probably benign	Het
Serpinb11	A	G	1: 107,304,598 (GRCm39)	K188E	possibly damaging	Het
Slc18a3	C	T	14: 32,185,736 (GRCm39)	V216M	possibly damaging	Het
Slc19a3	G	T	1: 83,000,341 (GRCm39)	N225K	probably benign	Het
Slc4a1	T	A	11: 102,242,329 (GRCm39)	I797F	probably benign	Het
Slx9	A	G	10: 77,325,850 (GRCm39)	V154A	probably benign	Het
Spic	A	G	10: 88,511,761 (GRCm39)	M165T	possibly damaging	Het
Timm44	A	T	8: 4,325,886 (GRCm39)	M1K	probably null	Het
Tmc6	A	G	11: 117,661,610 (GRCm39)	L572P	probably benign	Het
Tnc	G	A	4: 63,918,299 (GRCm39)	T1204M	probably benign	Het
Tnc	G	A	4: 63,902,726 (GRCm39)	T1517I	probably damaging	Het
Trip11	A	T	12: 101,851,169 (GRCm39)	L680*	probably null	Het
Trps1	T	A	15: 50,524,703 (GRCm39)	M887L	possibly damaging	Het
Tulp3	A	C	6: 128,302,031 (GRCm39)	V330G	probably damaging	Het
Upf1	A	G	8: 70,787,350 (GRCm39)	S835P	probably damaging	Het
Wdr64	A	G	1: 175,620,525 (GRCm39)		probably null	Het
Yju2b	G	A	8: 84,985,304 (GRCm39)	P322S	probably benign	Het
Zbtb40	A	G	4: 136,723,461 (GRCm39)	L643P	probably damaging	Het
Zc3h18	A	T	8: 123,110,259 (GRCm39)	D36V	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
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
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'- CATGCGTTCTTATGGACAGAAAATG -3'
(R):5'- TTTCTGACCGATAGAGGCCG -3'

Sequencing Primer
(F):5'- CGTCCTTTCAGAACTTATCCAAAG -3'
(R):5'- GGCCGGTAGAGGACTGTG -3'

Posted On

2016-06-06