Mutagenetix > Incidental Mutations

Incidental Mutation 'R6107:Patl2'

485543

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

044257-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.095) question?

Stock #

R6107 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

122120108-122186189 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 122127486 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 97 (L97Q)

Ref Sequence

ENSEMBL: ENSMUSP00000028665 (fasta)

Gene Model

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

AlphaFold

A2ARM1

Predicted Effect

probably damaging
Transcript: ENSMUST00000028665
AA Change: L97Q

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000028665
Gene: ENSMUSG00000027233
AA Change: L97Q

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

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acyp2	C	T	11: 30,506,354	E98K	possibly damaging	Het
Adgrl3	A	G	5: 81,688,563	R723G	probably damaging	Het
Ankrd52	C	A	10: 128,387,012	N610K	probably benign	Het
Atp2a3	A	G	11: 72,988,461		probably null	Het
Bahcc1	G	A	11: 120,272,888	A671T	probably benign	Het
Col6a5	A	T	9: 105,892,272	Y1764*	probably null	Het
E2f8	A	G	7: 48,867,676	V793A	probably benign	Het
Erbin	A	G	13: 103,833,892	I1072T	probably benign	Het
Exoc2	T	C	13: 30,876,797	I575V	probably benign	Het
Fbxw19	C	T	9: 109,495,766	V28M	probably damaging	Het
Flt1	G	A	5: 147,603,593	T762M	probably benign	Het
Ghitm	C	A	14: 37,125,209	A303S	probably damaging	Het
Gm18856	T	A	13: 13,965,734		probably benign	Het
Gm5493	T	A	17: 22,748,096	H68Q	possibly damaging	Het
Hells	T	G	19: 38,953,649	I461S	probably benign	Het
Inpp4a	T	A	1: 37,377,748	I450N	probably damaging	Het
Kbtbd6	T	A	14: 79,453,113	V353D	probably damaging	Het
Kifap3	A	T	1: 163,868,769	T656S	possibly damaging	Het
Med23	A	T	10: 24,906,034	K713*	probably null	Het
Miga1	A	T	3: 152,335,399	F44I	probably benign	Het
Ngrn	A	G	7: 80,261,877	E74G	probably damaging	Het
Olfr1286	T	C	2: 111,420,655	S99G	probably benign	Het
Pcdha1	A	G	18: 36,932,301	I673V	probably benign	Het
Pcsk1	A	G	13: 75,127,848	T543A	probably benign	Het
Plch1	C	T	3: 63,702,023	R912H	probably damaging	Het
Prl8a8	A	G	13: 27,511,464	V100A	possibly damaging	Het
Rnase10	T	A	14: 51,009,294	V43E	possibly damaging	Het
Robo1	A	G	16: 72,983,829	S816G	probably benign	Het
Slc25a34	C	T	4: 141,623,495	V68M	probably benign	Het
Slc25a48	A	T	13: 56,465,078	E263V	probably damaging	Het
Slc7a14	A	G	3: 31,257,610	V87A	probably damaging	Het
Slc8b1	A	G	5: 120,529,600	I433V	probably damaging	Het
Smurf1	A	G	5: 144,894,504	V259A	possibly damaging	Het
Spag6l	T	A	16: 16,781,788	N270I	possibly damaging	Het
Tas2r113	G	A	6: 132,893,014	V2M	probably damaging	Het
Tnpo2	T	C	8: 85,053,475	V680A	probably damaging	Het
Ttyh3	A	C	5: 140,633,562		probably null	Het
Ufl1	A	G	4: 25,251,999	S639P	possibly damaging	Het
Znfx1	A	T	2: 167,037,081	F928I	possibly 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
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
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

Predicted Primers

PCR Primer
(F):5'- CTGTGCACCCCATACCAATG -3'
(R):5'- CCATGCAGTTACTGTCCTGG -3'

Sequencing Primer
(F):5'- ATACCAATGCCTCCCTTGGGG -3'
(R):5'- CAGTTACTGTCCTGGCTGTTGAAATG -3'

Posted On

2017-08-16