Mutagenetix > Incidental Mutations

Incidental Mutation 'R5321:Patl1'

406128

Institutional Source

Beutler Lab

Gene Symbol

Patl1

Ensembl Gene

ENSMUSG00000046139

Gene Name

protein associated with topoisomerase II homolog 1 (yeast)

Synonyms

Pat1b

MMRRC Submission

042904-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.637) question?

Stock #

R5321 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

11912399-11945096 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 11921421 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 160 (Q160R)

Ref Sequence

ENSEMBL: ENSMUSP00000060398 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061618]

Predicted Effect

probably damaging
Transcript: ENSMUST00000061618
AA Change: Q160R

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000060398
Gene: ENSMUSG00000046139
AA Change: Q160R

Domain	Start	End	E-Value	Type
SCOP:d1sig__	8	111	2e-3	SMART
low complexity region	211	228	N/A	INTRINSIC
low complexity region	245	276	N/A	INTRINSIC
low complexity region	310	339	N/A	INTRINSIC
low complexity region	356	380	N/A	INTRINSIC
Pfam:PAT1	465	726	1.9e-18	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198985

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.7%
20x: 96.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	A	G	11: 110,327,825	F72L	probably benign	Het
Btrc	G	A	19: 45,507,758	V211M	probably damaging	Het
Col6a5	A	T	9: 105,928,465	Y1081N	unknown	Het
Cryzl1	T	C	16: 91,707,230	Y109C	probably benign	Het
Dlec1	T	A	9: 119,112,601	S352T	probably benign	Het
Dzip3	T	G	16: 48,957,675	T349P	possibly damaging	Het
Endou	A	G	15: 97,721,032	V37A	probably damaging	Het
Exosc1	A	T	19: 41,924,060	C129*	probably null	Het
Flywch1	C	G	17: 23,756,651	R539P	probably damaging	Het
Gm14410	G	A	2: 177,193,505	T322I	probably damaging	Het
Gm340	G	T	19: 41,585,204	W799C	probably damaging	Het
Lpin2	G	A	17: 71,246,858	V857M	probably damaging	Het
Olfr629	T	C	7: 103,740,655	N195S	probably damaging	Het
Phtf1	C	T	3: 104,003,511	T606I	probably benign	Het
Polr3a	T	C	14: 24,454,941	I1084V	possibly damaging	Het
Scrt1	T	C	15: 76,519,170	S207G	unknown	Het
Slc15a5	G	T	6: 137,987,438	N496K	probably benign	Het
Slc17a2	A	T	13: 23,812,631	I40F	possibly damaging	Het
Tdrd12	A	C	7: 35,478,094	V945G	probably damaging	Het
Tdrkh	C	A	3: 94,425,658	L169I	probably damaging	Het
Tmem59l	A	G	8: 70,487,215	C35R	probably damaging	Het
Tpte	A	T	8: 22,297,203	R33*	probably null	Het
Trpv2	T	A	11: 62,584,571	L270H	probably damaging	Het
Utp18	A	G	11: 93,866,434	L468P	probably damaging	Het
Uxs1	A	G	1: 43,805,645	I51T	probably damaging	Het
Vmn1r20	C	T	6: 57,432,442	S251L	probably benign	Het
Vmn1r24	A	T	6: 57,956,197	L112*	probably null	Het
Vmn1r5	T	C	6: 56,985,607	L89P	probably damaging	Het
Vmn2r10	G	T	5: 108,995,639	A815E	probably damaging	Het
Zfp119a	A	T	17: 55,865,595	L416H	probably damaging	Het

Other mutations in Patl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00491:Patl1	APN	19	11929887	missense	probably benign
IGL01396:Patl1	APN	19	11923883	missense	probably damaging	0.98
IGL02071:Patl1	APN	19	11939690	missense	probably damaging	1.00
IGL02239:Patl1	APN	19	11937359	nonsense	probably null
IGL02306:Patl1	APN	19	11942886	missense	possibly damaging	0.47
IGL02468:Patl1	APN	19	11932210	missense	probably damaging	1.00
IGL03193:Patl1	APN	19	11920840	missense	possibly damaging	0.49
R0382:Patl1	UTSW	19	11925232	splice site	probably null
R1015:Patl1	UTSW	19	11920373	missense	probably benign	0.00
R1871:Patl1	UTSW	19	11925232	splice site	probably benign
R1969:Patl1	UTSW	19	11921418	missense	probably benign
R2012:Patl1	UTSW	19	11939817	missense	probably damaging	1.00
R2058:Patl1	UTSW	19	11932147	missense	possibly damaging	0.87
R2859:Patl1	UTSW	19	11923831	missense	probably damaging	1.00
R4043:Patl1	UTSW	19	11942950	missense	probably damaging	1.00
R4079:Patl1	UTSW	19	11931630	missense	probably damaging	1.00
R4647:Patl1	UTSW	19	11914434	missense	probably damaging	1.00
R4735:Patl1	UTSW	19	11922505	missense	probably benign
R4830:Patl1	UTSW	19	11925151	missense	probably benign	0.01
R5322:Patl1	UTSW	19	11920859	nonsense	probably null
R5460:Patl1	UTSW	19	11935718	missense	possibly damaging	0.80
R5855:Patl1	UTSW	19	11921516	missense	probably damaging	0.99
R5933:Patl1	UTSW	19	11939772	missense	probably benign	0.08
R6020:Patl1	UTSW	19	11937354	missense	probably damaging	1.00
R6261:Patl1	UTSW	19	11920331	missense	probably damaging	1.00
R6317:Patl1	UTSW	19	11920878	missense	probably damaging	1.00
R7040:Patl1	UTSW	19	11929954	missense	possibly damaging	0.94
R7387:Patl1	UTSW	19	11933730	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GGTTAACGCAAAGGAATTTTATGGG -3'
(R):5'- CCAATATCCTGGGCTGTGTAC -3'

Sequencing Primer
(F):5'- GGGAGTGATAAAATTGGTGTATGTAC -3'
(R):5'- ACGTTAATGAAAGGTACCTGTTGG -3'

Posted On

2016-07-22