Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02306:Patl1'

287586

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Patl1

Ensembl Gene

ENSMUSG00000046139

Gene Name

protein associated with topoisomerase II homolog 1 (yeast)

Synonyms

Pat1b

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.552) question?

Stock #

IGL02306

Quality Score

Status

Chromosome

Chromosomal Location

11889763-11922455 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 11920250 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 735 (K735E)

Ref Sequence

ENSEMBL: ENSMUSP00000060398 (fasta)

Gene Model

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

AlphaFold

Q3TC46

Predicted Effect

possibly damaging
Transcript: ENSMUST00000061618
AA Change: K735E

PolyPhen 2 Score 0.473 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000060398
Gene: ENSMUSG00000046139
AA Change: K735E

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	A	G	3: 121,952,044 (GRCm39)	Y680C	probably damaging	Het
Abcb11	C	T	2: 69,095,801 (GRCm39)	W846*	probably null	Het
Adam34	G	A	8: 44,103,522 (GRCm39)	R708C	probably benign	Het
Adam6a	T	A	12: 113,509,343 (GRCm39)	L572Q	possibly damaging	Het
Aldoart2	A	G	12: 55,612,489 (GRCm39)	Y138C	probably damaging	Het
Amigo1	T	A	3: 108,095,302 (GRCm39)	F267Y	probably benign	Het
Car7	A	G	8: 105,275,630 (GRCm39)	Y137C	probably damaging	Het
Ccar2	A	T	14: 70,379,471 (GRCm39)	M509K	probably benign	Het
Cd160	A	T	3: 96,716,139 (GRCm39)	I17N	possibly damaging	Het
Cmya5	C	T	13: 93,234,527 (GRCm39)	G187D	probably damaging	Het
Crot	A	T	5: 9,018,701 (GRCm39)	V555E	possibly damaging	Het
Cstf1	C	T	2: 172,214,891 (GRCm39)	T4I	probably benign	Het
Cyp2a12	A	G	7: 26,732,008 (GRCm39)	K250E	probably damaging	Het
Deaf1	T	C	7: 140,904,094 (GRCm39)		probably null	Het
Dse	C	T	10: 34,036,130 (GRCm39)	E249K	probably damaging	Het
E4f1	G	T	17: 24,665,903 (GRCm39)	R88S	probably damaging	Het
Fam83a	A	C	15: 57,858,704 (GRCm39)	D248A	probably damaging	Het
Fhip2b	T	C	14: 70,826,437 (GRCm39)	D217G	probably benign	Het
Hadhb	T	A	5: 30,371,747 (GRCm39)	L66Q	probably null	Het
Kalrn	T	C	16: 34,130,897 (GRCm39)	E440G	probably damaging	Het
Kif3b	A	G	2: 153,162,572 (GRCm39)	Y527C	probably damaging	Het
Krt4	T	C	15: 101,829,740 (GRCm39)	I263V	probably benign	Het
Krtap29-1	A	T	11: 99,869,092 (GRCm39)	V263E	probably damaging	Het
Mms19	A	G	19: 41,954,703 (GRCm39)	L72P	probably damaging	Het
Mylpf	T	A	7: 126,812,330 (GRCm39)		probably benign	Het
Nalcn	T	A	14: 123,560,750 (GRCm39)	I776F	probably benign	Het
Nedd4l	T	G	18: 65,306,025 (GRCm39)	S292R	possibly damaging	Het
Nlrc3	A	C	16: 3,782,688 (GRCm39)	D240E	probably damaging	Het
Obscn	A	T	11: 58,890,497 (GRCm39)	I7345N	unknown	Het
Or4c102	A	T	2: 88,422,950 (GRCm39)	K267N	probably benign	Het
Ostn	A	T	16: 27,165,691 (GRCm39)	S127C	probably damaging	Het
Pde12	A	G	14: 26,389,533 (GRCm39)	L392P	possibly damaging	Het
Plxdc2	A	G	2: 16,665,585 (GRCm39)	I213V	probably benign	Het
Plxna4	T	A	6: 32,183,059 (GRCm39)	Y948F	probably benign	Het
Prlhr	A	T	19: 60,456,353 (GRCm39)	V71E	probably damaging	Het
Prlr	C	T	15: 10,328,760 (GRCm39)	P412S	probably benign	Het
Prmt9	A	G	8: 78,287,447 (GRCm39)	K196R	probably benign	Het
Rundc3a	T	A	11: 102,291,764 (GRCm39)	L387Q	probably damaging	Het
Ryr3	T	C	2: 112,664,459 (GRCm39)	I1611V	probably damaging	Het
Ryr3	A	G	2: 112,677,744 (GRCm39)		probably null	Het
Scart1	T	C	7: 139,803,269 (GRCm39)	C278R	probably damaging	Het
Sfxn2	T	A	19: 46,578,987 (GRCm39)	M240K	probably damaging	Het
Skor2	T	C	18: 76,950,374 (GRCm39)	S901P	probably benign	Het
Smad4	T	C	18: 73,795,940 (GRCm39)		probably null	Het
Snrnp40	T	G	4: 130,258,893 (GRCm39)	C100W	probably benign	Het
Spink5	T	A	18: 44,097,511 (GRCm39)	D19E	probably damaging	Het
Sult1d1	T	A	5: 87,703,914 (GRCm39)		probably benign	Het
Wdr59	G	A	8: 112,219,365 (GRCm39)	L231F	probably damaging	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
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
R8984:Patl1	UTSW	19	11,898,760 (GRCm39)	missense	probably damaging	0.98
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

Posted On

2015-04-16