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: 0.088) question?

Stock #

IGL02604

Quality Score

Status

Chromosome

Chromosomal Location

122120108-122186189 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 122125333 bp (GRCm38)

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: 35,567,948	V61A	probably benign	Het
Arfgef1	G	A	1: 10,181,050		probably benign	Het
Arhgef4	T	A	1: 34,811,723	L594*	probably null	Het
Cacna2d3	T	C	14: 29,293,109	T375A	possibly damaging	Het
Calb2	A	C	8: 110,148,528	Y155D	probably damaging	Het
Camkmt	A	G	17: 85,096,625	T92A	possibly damaging	Het
Chsy3	A	G	18: 59,409,115	S442G	probably benign	Het
Cyp4f13	T	C	17: 32,932,421	I173V	probably benign	Het
Dapk1	A	G	13: 60,748,320	T741A	probably benign	Het
Dennd3	T	C	15: 73,556,403	I866T	probably damaging	Het
Dhrs2	A	T	14: 55,237,321	I138F	possibly damaging	Het
Dscaml1	C	T	9: 45,744,328		probably benign	Het
Fsbp	A	G	4: 11,584,147	E282G	probably damaging	Het
Hpgds	A	T	6: 65,123,610	L128Q	probably damaging	Het
Hspa9	A	G	18: 34,954,213	V13A	unknown	Het
Itgb3	A	G	11: 104,662,443	E709G	probably damaging	Het
Jarid2	T	C	13: 44,874,401	S148P	probably damaging	Het
Kcna6	C	T	6: 126,739,204	G241R	probably benign	Het
Kdm5a	T	A	6: 120,431,980	N1541K	probably benign	Het
Kel	C	A	6: 41,687,582	E640D	probably damaging	Het
Lcp1	A	T	14: 75,224,126	I520F	probably benign	Het
Lgr4	A	G	2: 110,011,313	I524V	probably damaging	Het
Maats1	A	G	16: 38,321,559		probably benign	Het
Mup20	A	C	4: 62,051,904	Y139D	probably damaging	Het
Notch4	T	C	17: 34,565,388		probably null	Het
Obox7	A	G	7: 14,665,368	E173G	probably benign	Het
Olfr1502	T	A	19: 13,861,806	N4K	probably benign	Het
Olfr153	A	T	2: 87,532,605	T191S	probably damaging	Het
Olfr447	T	A	6: 42,912,058	C178*	probably null	Het
Olfr517	T	A	7: 108,868,650	Y168F	probably benign	Het
Olfr889	C	T	9: 38,115,852	Q19*	probably null	Het
Pip5k1c	C	A	10: 81,317,321		probably null	Het
Plekhg6	T	C	6: 125,377,379		probably benign	Het
Pon1	C	A	6: 5,168,375	G344V	probably damaging	Het
Ppp1r21	G	T	17: 88,572,743	K529N	probably benign	Het
Prdm15	A	G	16: 97,821,942	S203P	probably benign	Het
Psmc2	T	A	5: 21,795,100		probably null	Het
Ptn	T	C	6: 36,715,718	M166V	unknown	Het
Ptpn13	A	G	5: 103,501,903	N391D	probably benign	Het
Rnf214	A	G	9: 45,869,543	S383P	probably damaging	Het
Rufy4	T	A	1: 74,134,189	L438H	probably damaging	Het
Scarf2	A	G	16: 17,803,744	T353A	probably damaging	Het
Serpinb9e	A	C	13: 33,257,759	I225L	probably benign	Het
Slc25a40	T	C	5: 8,453,219	V312A	probably benign	Het
Tmc3	A	G	7: 83,622,619	Y993C	possibly damaging	Het
Trim56	A	C	5: 137,113,076	C529G	probably damaging	Het
Trim8	T	C	19: 46,515,478	S490P	probably damaging	Het
Trmt6	A	T	2: 132,810,437	Y147*	probably null	Het
Vmn2r109	T	A	17: 20,540,701	H798L	probably damaging	Het
Vps35	A	G	8: 85,286,389	L153P	probably damaging	Het
Wdr82	T	C	9: 106,183,681	I131T	probably damaging	Het
Zfp69	A	T	4: 120,931,463	D218E	probably benign	Het

Other mutations in Patl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01293:Patl2	APN	2	122123810	missense	probably benign	0.19
IGL01780:Patl2	APN	2	122121846	missense	probably damaging	1.00
IGL02713:Patl2	APN	2	122125847	missense	probably benign	0.01
IGL02990:Patl2	APN	2	122124497	critical splice acceptor site	probably null
FR4304:Patl2	UTSW	2	122126135	small insertion	probably benign
FR4548:Patl2	UTSW	2	122126135	small insertion	probably benign
FR4737:Patl2	UTSW	2	122126136	small insertion	probably benign
FR4737:Patl2	UTSW	2	122126144	nonsense	probably null
FR4737:Patl2	UTSW	2	122126145	small insertion	probably benign
FR4976:Patl2	UTSW	2	122126139	small insertion	probably benign
FR4976:Patl2	UTSW	2	122126141	small insertion	probably benign
FR4976:Patl2	UTSW	2	122126144	small insertion	probably benign
FR4976:Patl2	UTSW	2	122126145	small insertion	probably benign
R0001:Patl2	UTSW	2	122125710	splice site	probably benign
R0002:Patl2	UTSW	2	122125710	splice site	probably benign
R0540:Patl2	UTSW	2	122126669	missense	probably benign
R0570:Patl2	UTSW	2	122125308	missense	probably damaging	0.99
R0607:Patl2	UTSW	2	122126669	missense	probably benign
R1463:Patl2	UTSW	2	122123735	missense	probably benign	0.38
R2992:Patl2	UTSW	2	122125754	missense	probably damaging	0.97
R4329:Patl2	UTSW	2	122127537	missense	probably benign	0.01
R4583:Patl2	UTSW	2	122126745	missense	probably benign	0.00
R4737:Patl2	UTSW	2	122125306	missense	probably damaging	1.00
R4965:Patl2	UTSW	2	122128848	nonsense	probably null
R5091:Patl2	UTSW	2	122123802	missense	probably benign	0.01
R5256:Patl2	UTSW	2	122128887	missense	probably damaging	1.00
R5450:Patl2	UTSW	2	122125281	missense	probably benign	0.00
R5990:Patl2	UTSW	2	122124484	missense	probably damaging	1.00
R6028:Patl2	UTSW	2	122126137	missense	possibly damaging	0.76
R6107:Patl2	UTSW	2	122127486	missense	probably damaging	0.98
R6597:Patl2	UTSW	2	122186164	start gained	probably benign
R6969:Patl2	UTSW	2	122128929	missense	possibly damaging	0.52
R7131:Patl2	UTSW	2	122121782	critical splice donor site	probably null
R7436:Patl2	UTSW	2	122127525	missense	probably benign	0.00
R7718:Patl2	UTSW	2	122126774	splice site	probably null
R7852:Patl2	UTSW	2	122179109	unclassified	probably benign
R8397:Patl2	UTSW	2	122125273	missense	probably damaging	1.00
R9515:Patl2	UTSW	2	122124893	missense	probably benign	0.09
R9699:Patl2	UTSW	2	122125110	missense	probably damaging	1.00
R9766:Patl2	UTSW	2	122123731	missense	probably damaging	1.00

Posted On

2015-04-16