Mutagenetix > Incidental Mutation

Incidental Mutation 'R0002:Patl2'

8199

Institutional Source

Beutler Lab

Gene Symbol

Patl2

Ensembl Gene

ENSMUSG00000027233

Gene Name

protein associated with topoisomerase II homolog 2 (yeast)

Synonyms

Pat1a, 4930424G05Rik

MMRRC Submission

038298-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.106) question?

Stock #

R0002 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

121950589-122016670 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to A at 121956191 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000028665 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028665]

AlphaFold

A2ARM1

Predicted Effect

probably benign
Transcript: ENSMUST00000028665

SMART Domains

Protein: ENSMUSP00000028665
Gene: ENSMUSG00000027233

Domain	Start	End	E-Value	Type
low complexity region	33	41	N/A	INTRINSIC
low complexity region	143	165	N/A	INTRINSIC
low complexity region	215	227	N/A	INTRINSIC
Pfam:PAT1	247	490	6.7e-12	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 85.4%
3x: 79.5%
10x: 62.0%
20x: 53.1%

Validation Efficiency

95% (61/64)

Allele List at MGI

Other mutations in this stock

Total: 19 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aco1	T	C	4: 40,176,649 (GRCm39)		probably benign	Het
Bcl2	T	C	1: 106,640,241 (GRCm39)	R124G	possibly damaging	Het
Bri3	G	T	5: 144,181,312 (GRCm39)	C6F	probably benign	Het
Chn2	A	G	6: 54,250,098 (GRCm39)	N69S	probably benign	Het
Col5a3	T	A	9: 20,721,152 (GRCm39)		probably null	Het
Dhx36	A	C	3: 62,388,260 (GRCm39)	L625W	probably damaging	Het
Exph5	G	T	9: 53,285,256 (GRCm39)	R779I	probably damaging	Het
F5	T	C	1: 164,029,200 (GRCm39)	F1733S	probably damaging	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Iqch	T	C	9: 63,502,025 (GRCm39)		probably benign	Het
Lgr6	C	T	1: 134,921,748 (GRCm39)	A199T	probably damaging	Het
Pate14	A	T	9: 36,548,655 (GRCm39)	D59E	probably damaging	Het
Pik3c2g	A	G	6: 139,714,471 (GRCm39)	T208A	probably benign	Het
Prkag3	T	C	1: 74,783,947 (GRCm39)	D312G	probably damaging	Het
Slc26a5	T	A	5: 22,019,981 (GRCm39)	I530F	probably damaging	Het
Tacc2	T	A	7: 130,223,515 (GRCm39)	S67T	probably damaging	Het
Tas2r113	T	A	6: 132,870,742 (GRCm39)	S257T	probably benign	Het
Tnr	T	C	1: 159,701,770 (GRCm39)	Y624H	probably damaging	Het
Ubr4	T	C	4: 139,118,211 (GRCm39)	L112P	probably damaging	Het

Other mutations in Patl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01293:Patl2	APN	2	121,954,291 (GRCm39)	missense	probably benign	0.19
IGL01780:Patl2	APN	2	121,952,327 (GRCm39)	missense	probably damaging	1.00
IGL02604:Patl2	APN	2	121,955,814 (GRCm39)	missense	possibly damaging	0.80
IGL02713:Patl2	APN	2	121,956,328 (GRCm39)	missense	probably benign	0.01
IGL02990:Patl2	APN	2	121,954,978 (GRCm39)	critical splice acceptor site	probably null
FR4304:Patl2	UTSW	2	121,956,616 (GRCm39)	small insertion	probably benign
FR4548:Patl2	UTSW	2	121,956,616 (GRCm39)	small insertion	probably benign
FR4737:Patl2	UTSW	2	121,956,626 (GRCm39)	small insertion	probably benign
FR4737:Patl2	UTSW	2	121,956,625 (GRCm39)	nonsense	probably null
FR4737:Patl2	UTSW	2	121,956,617 (GRCm39)	small insertion	probably benign
FR4976:Patl2	UTSW	2	121,956,625 (GRCm39)	small insertion	probably benign
FR4976:Patl2	UTSW	2	121,956,622 (GRCm39)	small insertion	probably benign
FR4976:Patl2	UTSW	2	121,956,620 (GRCm39)	small insertion	probably benign
FR4976:Patl2	UTSW	2	121,956,626 (GRCm39)	small insertion	probably benign
R0001:Patl2	UTSW	2	121,956,191 (GRCm39)	splice site	probably benign
R0540:Patl2	UTSW	2	121,957,150 (GRCm39)	missense	probably benign
R0570:Patl2	UTSW	2	121,955,789 (GRCm39)	missense	probably damaging	0.99
R0607:Patl2	UTSW	2	121,957,150 (GRCm39)	missense	probably benign
R1463:Patl2	UTSW	2	121,954,216 (GRCm39)	missense	probably benign	0.38
R2992:Patl2	UTSW	2	121,956,235 (GRCm39)	missense	probably damaging	0.97
R4329:Patl2	UTSW	2	121,958,018 (GRCm39)	missense	probably benign	0.01
R4583:Patl2	UTSW	2	121,957,226 (GRCm39)	missense	probably benign	0.00
R4737:Patl2	UTSW	2	121,955,787 (GRCm39)	missense	probably damaging	1.00
R4965:Patl2	UTSW	2	121,959,329 (GRCm39)	nonsense	probably null
R5091:Patl2	UTSW	2	121,954,283 (GRCm39)	missense	probably benign	0.01
R5256:Patl2	UTSW	2	121,959,368 (GRCm39)	missense	probably damaging	1.00
R5450:Patl2	UTSW	2	121,955,762 (GRCm39)	missense	probably benign	0.00
R5990:Patl2	UTSW	2	121,954,965 (GRCm39)	missense	probably damaging	1.00
R6028:Patl2	UTSW	2	121,956,618 (GRCm39)	missense	possibly damaging	0.76
R6107:Patl2	UTSW	2	121,957,967 (GRCm39)	missense	probably damaging	0.98
R6597:Patl2	UTSW	2	122,016,645 (GRCm39)	start gained	probably benign
R6969:Patl2	UTSW	2	121,959,410 (GRCm39)	missense	possibly damaging	0.52
R7131:Patl2	UTSW	2	121,952,263 (GRCm39)	critical splice donor site	probably null
R7436:Patl2	UTSW	2	121,958,006 (GRCm39)	missense	probably benign	0.00
R7718:Patl2	UTSW	2	121,957,255 (GRCm39)	splice site	probably null
R7852:Patl2	UTSW	2	122,009,590 (GRCm39)	unclassified	probably benign
R8397:Patl2	UTSW	2	121,955,754 (GRCm39)	missense	probably damaging	1.00
R9515:Patl2	UTSW	2	121,955,374 (GRCm39)	missense	probably benign	0.09
R9699:Patl2	UTSW	2	121,955,591 (GRCm39)	missense	probably damaging	1.00
R9766:Patl2	UTSW	2	121,954,212 (GRCm39)	missense	probably damaging	1.00

Posted On

2012-11-20