Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02604:Patl2'

300191

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Patl2

Ensembl Gene

ENSMUSG00000027233

Gene Name

protein associated with topoisomerase II homolog 2 (yeast)

Synonyms

Pat1a, 4930424G05Rik

Accession Numbers

Essential gene?

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

Stock #

IGL02604

Quality Score

Status

Chromosome

Chromosomal Location

121950589-122016670 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 121955814 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Proline at position 241 (T241P)

Ref Sequence

ENSEMBL: ENSMUSP00000028665 (fasta)

Gene Model

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

AlphaFold

A2ARM1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000028665
AA Change: T241P

PolyPhen 2 Score 0.802 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000028665
Gene: ENSMUSG00000027233
AA Change: T241P

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2300002M23Rik	T	C	17: 35,878,845 (GRCm39)	V61A	probably benign	Het
Arfgef1	G	A	1: 10,251,275 (GRCm39)		probably benign	Het
Arhgef4	T	A	1: 34,850,804 (GRCm39)	L594*	probably null	Het
Cacna2d3	T	C	14: 29,015,066 (GRCm39)	T375A	possibly damaging	Het
Calb2	A	C	8: 110,875,160 (GRCm39)	Y155D	probably damaging	Het
Camkmt	A	G	17: 85,404,053 (GRCm39)	T92A	possibly damaging	Het
Cfap91	A	G	16: 38,141,921 (GRCm39)		probably benign	Het
Chsy3	A	G	18: 59,542,187 (GRCm39)	S442G	probably benign	Het
Cyp4f13	T	C	17: 33,151,395 (GRCm39)	I173V	probably benign	Het
Dapk1	A	G	13: 60,896,134 (GRCm39)	T741A	probably benign	Het
Dennd3	T	C	15: 73,428,252 (GRCm39)	I866T	probably damaging	Het
Dhrs2	A	T	14: 55,474,778 (GRCm39)	I138F	possibly damaging	Het
Dscaml1	C	T	9: 45,655,626 (GRCm39)		probably benign	Het
Fsbp	A	G	4: 11,584,147 (GRCm39)	E282G	probably damaging	Het
Hpgds	A	T	6: 65,100,594 (GRCm39)	L128Q	probably damaging	Het
Hspa9	A	G	18: 35,087,266 (GRCm39)	V13A	unknown	Het
Itgb3	A	G	11: 104,553,269 (GRCm39)	E709G	probably damaging	Het
Jarid2	T	C	13: 45,027,877 (GRCm39)	S148P	probably damaging	Het
Kcna6	C	T	6: 126,716,167 (GRCm39)	G241R	probably benign	Het
Kdm5a	T	A	6: 120,408,941 (GRCm39)	N1541K	probably benign	Het
Kel	C	A	6: 41,664,516 (GRCm39)	E640D	probably damaging	Het
Lcp1	A	T	14: 75,461,566 (GRCm39)	I520F	probably benign	Het
Lgr4	A	G	2: 109,841,658 (GRCm39)	I524V	probably damaging	Het
Mup20	A	C	4: 61,970,141 (GRCm39)	Y139D	probably damaging	Het
Notch4	T	C	17: 34,784,362 (GRCm39)		probably null	Het
Obox7	A	G	7: 14,399,293 (GRCm39)	E173G	probably benign	Het
Or10a49	T	A	7: 108,467,857 (GRCm39)	Y168F	probably benign	Het
Or2a25	T	A	6: 42,888,992 (GRCm39)	C178*	probably null	Het
Or5w22	A	T	2: 87,362,949 (GRCm39)	T191S	probably damaging	Het
Or8b40	C	T	9: 38,027,148 (GRCm39)	Q19*	probably null	Het
Or9i1	T	A	19: 13,839,170 (GRCm39)	N4K	probably benign	Het
Pip5k1c	C	A	10: 81,153,155 (GRCm39)		probably null	Het
Plekhg6	T	C	6: 125,354,342 (GRCm39)		probably benign	Het
Pon1	C	A	6: 5,168,375 (GRCm39)	G344V	probably damaging	Het
Ppp1r21	G	T	17: 88,880,171 (GRCm39)	K529N	probably benign	Het
Prdm15	A	G	16: 97,623,142 (GRCm39)	S203P	probably benign	Het
Psmc2	T	A	5: 22,000,098 (GRCm39)		probably null	Het
Ptn	T	C	6: 36,692,653 (GRCm39)	M166V	unknown	Het
Ptpn13	A	G	5: 103,649,769 (GRCm39)	N391D	probably benign	Het
Rnf214	A	G	9: 45,780,841 (GRCm39)	S383P	probably damaging	Het
Rufy4	T	A	1: 74,173,348 (GRCm39)	L438H	probably damaging	Het
Scarf2	A	G	16: 17,621,608 (GRCm39)	T353A	probably damaging	Het
Serpinb9e	A	C	13: 33,441,742 (GRCm39)	I225L	probably benign	Het
Slc25a40	T	C	5: 8,503,219 (GRCm39)	V312A	probably benign	Het
Tmc3	A	G	7: 83,271,827 (GRCm39)	Y993C	possibly damaging	Het
Trim56	A	C	5: 137,141,930 (GRCm39)	C529G	probably damaging	Het
Trim8	T	C	19: 46,503,917 (GRCm39)	S490P	probably damaging	Het
Trmt6	A	T	2: 132,652,357 (GRCm39)	Y147*	probably null	Het
Vmn2r109	T	A	17: 20,760,963 (GRCm39)	H798L	probably damaging	Het
Vps35	A	G	8: 86,013,018 (GRCm39)	L153P	probably damaging	Het
Wdr82	T	C	9: 106,060,880 (GRCm39)	I131T	probably damaging	Het
Zfp69	A	T	4: 120,788,660 (GRCm39)	D218E	probably benign	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
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
R0002: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

2015-04-16