Mutagenetix > Incidental Mutation

Incidental Mutation 'R0001:Patl2'

32222

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

038297-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.090) question?

Stock #

R0001 (G1)

Quality Score

159

Status

Validated

Chromosome

Chromosomal Location

122120108-122186189 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

G to A at 122125710 bp (GRCm38)

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: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.6%

Validation Efficiency

99% (76/77)

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700019N19Rik	G	A	19: 58,789,171	A61V	probably damaging	Het
2900092C05Rik	T	A	7: 12,554,607		probably benign	Het
A4galt	A	G	15: 83,228,289	F98L	probably benign	Het
Abca4	T	G	3: 122,081,011		probably benign	Het
Acacb	C	T	5: 114,204,833		probably benign	Het
Agbl1	A	T	7: 76,419,863	H367L	probably damaging	Het
Apoa4	C	A	9: 46,242,892	Q264K	probably benign	Het
Camsap2	A	T	1: 136,282,888		probably benign	Het
Cdan1	C	A	2: 120,723,751	R939L	probably benign	Het
Ceacam18	G	A	7: 43,636,876	V58I	possibly damaging	Het
Ciita	A	T	16: 10,514,433		probably benign	Het
Clk4	T	A	11: 51,268,765		probably benign	Het
Cntnap2	T	C	6: 46,530,171	D215G	probably benign	Het
Col11a2	T	C	17: 34,061,612	S1218P	probably benign	Het
Col20a1	T	C	2: 180,984,412		probably benign	Het
Ctsb	A	G	14: 63,135,622	E76G	probably benign	Het
Ctu2	T	C	8: 122,478,920	C161R	probably benign	Het
Dhx29	T	C	13: 112,964,556	L1211P	probably damaging	Het
Dhx9	G	T	1: 153,462,636	T759K	probably damaging	Het
Dmxl1	T	C	18: 49,888,897		probably benign	Het
Dpysl3	C	T	18: 43,358,375	E226K	possibly damaging	Het
Eif2d	A	T	1: 131,168,127	K453*	probably null	Het
Epha7	T	C	4: 28,961,279		probably benign	Het
Fam160b1	T	A	19: 57,381,756	H477Q	probably benign	Het
Fat3	T	C	9: 16,377,873	D118G	probably damaging	Het
Foxn4	T	A	5: 114,260,870	Q159L	probably damaging	Het
Frs2	G	T	10: 117,074,876	H194N	possibly damaging	Het
Fut8	A	T	12: 77,475,315	*576L	probably null	Het
Galns	T	C	8: 122,595,883		probably benign	Het
Gamt	G	A	10: 80,259,061		probably benign	Het
Gpn1	T	A	5: 31,495,617		probably benign	Het
Ipcef1	G	T	10: 6,900,600	H330Q	probably damaging	Het
Itga4	A	C	2: 79,326,587	Y1024S	probably damaging	Het
Jak2	A	G	19: 29,282,387	I229V	probably benign	Het
Katnal1	A	G	5: 148,921,275	S42P	probably damaging	Het
Kcnu1	A	T	8: 25,859,270	D142V	probably damaging	Het
Lig3	C	T	11: 82,790,591	R470W	probably damaging	Het
Mgat4c	A	G	10: 102,388,956	S344G	probably benign	Het
Miox	C	T	15: 89,336,274	L189F	possibly damaging	Het
Mipol1	C	T	12: 57,460,839		probably benign	Het
Mki67	C	T	7: 135,699,172	V1378M	probably damaging	Het
Mki67	T	A	7: 135,701,019	D762V	probably damaging	Het
Mmp9	A	G	2: 164,948,383	T43A	probably benign	Het
Muc6	T	C	7: 141,641,574	T1316A	possibly damaging	Het
Naip5	A	G	13: 100,214,650		probably null	Het
Naip5	C	A	13: 100,223,114	S538I	probably benign	Het
Nek3	A	T	8: 22,158,612		probably benign	Het
Nlrp1b	A	G	11: 71,161,759	S948P	probably damaging	Het
Nyap2	A	T	1: 81,192,107	H193L	probably benign	Het
Olfr1413	A	G	1: 92,573,461	K97E	possibly damaging	Het
Olfr648	T	A	7: 104,179,473	K312*	probably null	Het
Pcdhb11	A	T	18: 37,423,989	R791W	probably benign	Het
Pkd1l3	C	A	8: 109,628,633		probably benign	Het
Pkn2	A	T	3: 142,828,988	V73D	probably benign	Het
Pknox1	A	T	17: 31,599,636	H281L	probably damaging	Het
Polr3a	A	G	14: 24,452,189		probably benign	Het
Prss38	A	G	11: 59,373,180		probably benign	Het
Rad54l2	A	G	9: 106,708,217	F783S	probably damaging	Het
Rbm5	T	C	9: 107,742,424	R125G	probably damaging	Het
Rnpep	A	G	1: 135,272,485		probably benign	Het
Slc1a5	T	A	7: 16,793,637		probably null	Het
Slc22a4	G	A	11: 54,028,003		probably benign	Het
Spink12	T	C	18: 44,107,696	C50R	probably damaging	Het
Svep1	G	A	4: 58,066,460	T3208I	possibly damaging	Het
Tgm5	G	T	2: 121,077,646	D16E	probably damaging	Het
Tpp2	A	G	1: 43,971,726	N558D	probably benign	Het
Trappc9	A	T	15: 72,963,662	L507Q	probably damaging	Het
Trpm3	A	T	19: 22,715,331	Q262L	possibly damaging	Het
Ttn	A	G	2: 76,776,972		probably benign	Het
Ttn	G	A	2: 76,832,089		probably benign	Het
Ubr4	T	A	4: 139,451,788	L3316Q	probably damaging	Het
Uckl1	T	A	2: 181,574,655	Y136F	probably damaging	Het
Vmn1r28	G	A	6: 58,265,717	A182T	probably benign	Het
Vps39	A	G	2: 120,318,053	V870A	probably benign	Het
Zdhhc25	A	G	15: 88,600,909	D149G	probably benign	Het
Zfp648	C	T	1: 154,205,286	T397M	probably damaging	Het
Zic2	C	A	14: 122,478,957	T435K	probably damaging	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
IGL02604:Patl2	APN	2	122125333	missense	possibly damaging	0.80
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
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

Predicted Primers

PCR Primer
(F):5'- AGCCCTGGTCTTTTGTCCAAGC -3'
(R):5'- AGAGCACTCCACTGCCTGTTTACC -3'

Sequencing Primer
(F):5'- AGGTGGACATGCCTACATTC -3'
(R):5'- TCCTTGGGAAGCCACTATGAC -3'

Posted On

2013-05-09