Mutagenetix > Incidental Mutation

Incidental Mutation 'R8984:Patl1'

683931

Institutional Source

Beutler Lab

Gene Symbol

Patl1

Ensembl Gene

ENSMUSG00000046139

Gene Name

protein associated with topoisomerase II homolog 1 (yeast)

Synonyms

Pat1b

MMRRC Submission

068817-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.552) question?

Stock #

R8984 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

11889763-11922455 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 11898760 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 152 (Y152N)

Ref Sequence

ENSEMBL: ENSMUSP00000060398 (fasta)

Gene Model

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

AlphaFold

Q3TC46

Predicted Effect

probably damaging
Transcript: ENSMUST00000061618
AA Change: Y152N

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000060398
Gene: ENSMUSG00000046139
AA Change: Y152N

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (68/68)

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd5	T	A	9: 122,180,880 (GRCm39)	V10E	probably benign	Het
Adss2	A	T	1: 177,601,280 (GRCm39)		probably benign	Het
AI467606	A	T	7: 126,691,673 (GRCm39)	I83F	probably damaging	Het
Atn1	A	T	6: 124,723,923 (GRCm39)	W437R	unknown	Het
Atxn7l2	T	C	3: 108,116,290 (GRCm39)		probably benign	Het
AU040320	T	C	4: 126,734,936 (GRCm39)	F750S	possibly damaging	Het
B3gnt6	A	G	7: 97,842,821 (GRCm39)	S380P	probably benign	Het
Bod1l	T	C	5: 41,946,215 (GRCm39)	Q3020R	probably damaging	Het
Borcs6	A	T	11: 68,950,828 (GRCm39)	I69F	probably benign	Het
Brd7	T	A	8: 89,081,340 (GRCm39)	M170L	probably benign	Het
Ccdc191	T	A	16: 43,710,581 (GRCm39)		probably benign	Het
Cit	C	T	5: 116,064,534 (GRCm39)	T472I	possibly damaging	Het
Ddx25	G	T	9: 35,468,685 (GRCm39)	D57E	probably benign	Het
Dnah7a	A	T	1: 53,674,436 (GRCm39)	L447*	probably null	Het
Epb41l3	A	G	17: 69,554,641 (GRCm39)	D247G	probably damaging	Het
Epha8	G	T	4: 136,665,897 (GRCm39)	L420M	probably damaging	Het
Etaa1	A	T	11: 17,890,254 (GRCm39)	V869E	probably damaging	Het
Exoc8	T	A	8: 125,622,769 (GRCm39)	I533F	probably benign	Het
Fam117a	A	G	11: 95,254,823 (GRCm39)		probably null	Het
Fam222a	C	T	5: 114,749,092 (GRCm39)	T96I	possibly damaging	Het
Farsa	C	T	8: 85,594,228 (GRCm39)	T326I	probably damaging	Het
Fkbp1b	T	A	12: 4,891,401 (GRCm39)	D12V	probably damaging	Het
Garin3	C	A	11: 46,295,695 (GRCm39)	Y22*	probably null	Het
Gc	C	T	5: 89,589,421 (GRCm39)		probably null	Het
Git2	T	C	5: 114,868,256 (GRCm39)	E705G	probably damaging	Het
Gm10318	G	A	10: 77,689,078 (GRCm39)	C128Y	unknown	Het
H3c3	C	A	13: 23,929,393 (GRCm39)	A30S	probably benign	Het
Hcar2	G	A	5: 124,002,571 (GRCm39)	R311*	probably null	Het
Hira	A	G	16: 18,746,261 (GRCm39)	Q468R	possibly damaging	Het
Hspa1l	T	C	17: 35,197,092 (GRCm39)	V377A	probably damaging	Het
Igkv2-137	T	A	6: 67,532,659 (GRCm39)	W14R	probably damaging	Het
Itga3	A	T	11: 94,953,391 (GRCm39)	L317Q	probably damaging	Het
Jade2	A	C	11: 51,715,906 (GRCm39)	L433W	probably damaging	Het
Kif21a	T	C	15: 90,840,559 (GRCm39)	T1186A	probably benign	Het
Krtap28-10	C	A	1: 83,019,894 (GRCm39)	C82F	unknown	Het
Ksr1	G	A	11: 78,931,709 (GRCm39)	T333M	probably damaging	Het
Msi1	T	C	5: 115,573,598 (GRCm39)	F132S	probably damaging	Het
Myo7b	C	A	18: 32,099,402 (GRCm39)	K1673N	probably null	Het
Myom3	T	A	4: 135,515,255 (GRCm39)	N716K		Het
Ndst4	G	A	3: 125,515,810 (GRCm39)	G312R	probably damaging	Het
Ndufaf2	A	G	13: 108,189,316 (GRCm39)	V144A	probably benign	Het
Omd	T	C	13: 49,743,576 (GRCm39)	S209P	possibly damaging	Het
Or2n1c	A	G	17: 38,519,304 (GRCm39)	H56R	probably damaging	Het
Or2t47	G	C	11: 58,442,209 (GRCm39)	N285K	probably damaging	Het
Or51b17	G	A	7: 103,542,816 (GRCm39)	T42I	probably benign	Het
Or51e1	T	A	7: 102,359,219 (GRCm39)	I251N	possibly damaging	Het
Or52a24	T	C	7: 103,381,220 (GRCm39)	I29T	probably damaging	Het
Or52e3	T	C	7: 102,869,393 (GRCm39)	L156P	possibly damaging	Het
Plaur	T	A	7: 24,164,577 (GRCm39)	M27K	probably benign	Het
Ppfia2	T	A	10: 106,694,439 (GRCm39)		probably benign	Het
Ppfia3	A	G	7: 44,990,100 (GRCm39)	V1142A	probably damaging	Het
Psg28	T	A	7: 18,156,981 (GRCm39)	N418I	probably damaging	Het
Ptprd	A	T	4: 75,863,251 (GRCm39)	F1237I	probably damaging	Het
Ptprj	G	A	2: 90,270,987 (GRCm39)	P1247L	probably damaging	Het
Rbms3	A	T	9: 116,524,886 (GRCm39)		probably null	Het
Rgs18	A	G	1: 144,629,566 (GRCm39)	V231A	probably benign	Het
Rnf112	T	C	11: 61,343,277 (GRCm39)	R156G	possibly damaging	Het
Rsad1	A	C	11: 94,439,010 (GRCm39)	V150G	probably damaging	Het
Rxrg	G	A	1: 167,462,005 (GRCm39)	V350I	possibly damaging	Het
Sash1	A	G	10: 8,626,808 (GRCm39)	I192T	possibly damaging	Het
Slc25a36	G	A	9: 96,961,259 (GRCm39)	T259I	probably benign	Het
Smarcd3	T	A	5: 24,798,986 (GRCm39)	E324V	probably null	Het
St3gal4	A	G	9: 34,966,944 (GRCm39)	V2A	possibly damaging	Het
Stk17b	A	C	1: 53,796,784 (GRCm39)	S328A	probably benign	Het
Tbrg1	A	G	9: 37,563,949 (GRCm39)	Y229H	probably damaging	Het
Tdg	A	G	10: 82,484,514 (GRCm39)	N409S	probably benign	Het
Terb1	T	C	8: 105,212,036 (GRCm39)	E315G	possibly damaging	Het
Tmem131	A	G	1: 36,867,228 (GRCm39)	F402L	probably benign	Het
Trav4-2	T	C	14: 53,656,190 (GRCm39)	I64T	probably benign	Het
Trav4-4-dv10	A	G	14: 53,921,574 (GRCm39)	T91A	probably benign	Het
Xdh	C	T	17: 74,228,346 (GRCm39)	G352R	probably damaging	Het
Zfp551	C	A	7: 12,156,559 (GRCm39)		probably benign	Het

Other mutations in Patl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00491:Patl1	APN	19	11,907,251 (GRCm39)	missense	probably benign
IGL01396:Patl1	APN	19	11,901,247 (GRCm39)	missense	probably damaging	0.98
IGL02071:Patl1	APN	19	11,917,054 (GRCm39)	missense	probably damaging	1.00
IGL02239:Patl1	APN	19	11,914,723 (GRCm39)	nonsense	probably null
IGL02306:Patl1	APN	19	11,920,250 (GRCm39)	missense	possibly damaging	0.47
IGL02468:Patl1	APN	19	11,909,574 (GRCm39)	missense	probably damaging	1.00
IGL03193:Patl1	APN	19	11,898,204 (GRCm39)	missense	possibly damaging	0.49
R0382:Patl1	UTSW	19	11,902,596 (GRCm39)	splice site	probably null
R1015:Patl1	UTSW	19	11,897,737 (GRCm39)	missense	probably benign	0.00
R1871:Patl1	UTSW	19	11,902,596 (GRCm39)	splice site	probably benign
R1969:Patl1	UTSW	19	11,898,782 (GRCm39)	missense	probably benign
R2012:Patl1	UTSW	19	11,917,181 (GRCm39)	missense	probably damaging	1.00
R2058:Patl1	UTSW	19	11,909,511 (GRCm39)	missense	possibly damaging	0.87
R2859:Patl1	UTSW	19	11,901,195 (GRCm39)	missense	probably damaging	1.00
R4043:Patl1	UTSW	19	11,920,314 (GRCm39)	missense	probably damaging	1.00
R4079:Patl1	UTSW	19	11,908,994 (GRCm39)	missense	probably damaging	1.00
R4647:Patl1	UTSW	19	11,891,798 (GRCm39)	missense	probably damaging	1.00
R4735:Patl1	UTSW	19	11,899,869 (GRCm39)	missense	probably benign
R4830:Patl1	UTSW	19	11,902,515 (GRCm39)	missense	probably benign	0.01
R5321:Patl1	UTSW	19	11,898,785 (GRCm39)	missense	probably damaging	0.99
R5322:Patl1	UTSW	19	11,898,223 (GRCm39)	nonsense	probably null
R5460:Patl1	UTSW	19	11,913,082 (GRCm39)	missense	possibly damaging	0.80
R5855:Patl1	UTSW	19	11,898,880 (GRCm39)	missense	probably damaging	0.99
R5933:Patl1	UTSW	19	11,917,136 (GRCm39)	missense	probably benign	0.08
R6020:Patl1	UTSW	19	11,914,718 (GRCm39)	missense	probably damaging	1.00
R6261:Patl1	UTSW	19	11,897,695 (GRCm39)	missense	probably damaging	1.00
R6317:Patl1	UTSW	19	11,898,242 (GRCm39)	missense	probably damaging	1.00
R7040:Patl1	UTSW	19	11,907,318 (GRCm39)	missense	possibly damaging	0.94
R7387:Patl1	UTSW	19	11,911,094 (GRCm39)	missense	probably benign	0.01
R8754:Patl1	UTSW	19	11,899,898 (GRCm39)	missense	probably damaging	0.97
R8936:Patl1	UTSW	19	11,891,725 (GRCm39)	missense	probably damaging	1.00
R9088:Patl1	UTSW	19	11,920,289 (GRCm39)	missense	possibly damaging	0.58
R9106:Patl1	UTSW	19	11,908,973 (GRCm39)	missense	probably damaging	0.97
R9309:Patl1	UTSW	19	11,913,082 (GRCm39)	missense	probably damaging	0.98
R9431:Patl1	UTSW	19	11,898,815 (GRCm39)	missense	probably damaging	1.00
R9499:Patl1	UTSW	19	11,897,728 (GRCm39)	missense	possibly damaging	0.84

Predicted Primers

PCR Primer
(F):5'- GCCAAGGGCTGATTTTAAAAGG -3'
(R):5'- AGGTACCTGTTGGTTGAAGC -3'

Sequencing Primer
(F):5'- GGGCTGATTTTAAAAGGTTAACGC -3'
(R):5'- CCTGTTGGTTGAAGCTGGGAAC -3'

Posted On

2021-10-11