Mutagenetix > Incidental Mutation

Incidental Mutation 'R4830:Patl1'

372771

Institutional Source

Beutler Lab

Gene Symbol

Patl1

Ensembl Gene

ENSMUSG00000046139

Gene Name

protein associated with topoisomerase II homolog 1 (yeast)

Synonyms

Pat1b

MMRRC Submission

042446-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.552) question?

Stock #

R4830 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

11889763-11922455 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 11902515 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 349 (M349T)

Ref Sequence

ENSEMBL: ENSMUSP00000060398 (fasta)

Gene Model

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

AlphaFold

Q3TC46

Predicted Effect

probably benign
Transcript: ENSMUST00000061618
AA Change: M349T

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000060398
Gene: ENSMUSG00000046139
AA Change: M349T

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

Meta Mutation Damage Score

0.0842

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.5%

Validation Efficiency

97% (71/73)

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd3	C	A	3: 121,553,933 (GRCm39)	G643V	probably damaging	Het
Adamtsl1	A	G	4: 86,274,619 (GRCm39)	E1225G	probably damaging	Het
Agbl5	G	A	5: 31,048,059 (GRCm39)	R111H	probably damaging	Het
Ankle2	A	C	5: 110,389,879 (GRCm39)	K446Q	probably damaging	Het
Boc	A	C	16: 44,310,520 (GRCm39)	M800R	probably damaging	Het
Ccnt1	A	T	15: 98,441,332 (GRCm39)	N645K	probably damaging	Het
Cd93	G	A	2: 148,285,299 (GRCm39)	Q16*	probably null	Het
Cpsf4l	G	T	11: 113,600,328 (GRCm39)		probably benign	Het
Cuzd1	T	A	7: 130,919,783 (GRCm39)	D111V	probably damaging	Het
Dab2	T	C	15: 6,457,008 (GRCm39)	C232R	probably benign	Het
Dmpk	A	T	7: 18,821,453 (GRCm39)	Y237F	probably damaging	Het
Dnah6	T	A	6: 73,021,745 (GRCm39)	T3526S	possibly damaging	Het
Dock2	T	C	11: 34,223,767 (GRCm39)		probably null	Het
Dsp	G	A	13: 38,376,840 (GRCm39)	V1542I	probably benign	Het
Dst	T	A	1: 34,237,586 (GRCm39)		probably null	Het
Esd	T	C	14: 74,978,600 (GRCm39)	L54S	probably damaging	Het
Exd1	C	T	2: 119,350,807 (GRCm39)	A485T	probably benign	Het
Gm3604	A	T	13: 62,516,857 (GRCm39)	N500K	probably damaging	Het
Grhl2	T	A	15: 37,335,903 (GRCm39)		probably null	Het
Gsto1	C	T	19: 47,852,830 (GRCm39)	R222C	probably benign	Het
Inpp4a	T	A	1: 37,410,861 (GRCm39)	M343K	probably damaging	Het
Itpripl2	T	C	7: 118,090,280 (GRCm39)	Q93R	probably benign	Het
Jakmip2	G	A	18: 43,700,208 (GRCm39)	T450I	probably benign	Het
Kdm6b	A	T	11: 69,294,620 (GRCm39)	I1186N	unknown	Het
Kif1a	T	C	1: 92,948,931 (GRCm39)		probably null	Het
Klhl20	T	C	1: 160,925,946 (GRCm39)	K434R	probably benign	Het
Lemd3	T	C	10: 120,767,853 (GRCm39)	D697G	probably damaging	Het
Lipo3	A	G	19: 33,753,987 (GRCm39)	S383P	probably damaging	Het
Ltn1	C	A	16: 87,176,582 (GRCm39)	K1741N	probably damaging	Het
Lvrn	A	T	18: 47,038,418 (GRCm39)	T991S	probably damaging	Het
Macroh2a2	C	T	10: 61,575,132 (GRCm39)	D355N	possibly damaging	Het
Mast3	C	A	8: 71,241,559 (GRCm39)	R151L	possibly damaging	Het
Mplkipl1	C	T	19: 61,164,364 (GRCm39)	G24R	unknown	Het
Muc4	G	C	16: 32,753,919 (GRCm38)	R1265P	probably benign	Het
Myoz1	T	C	14: 20,705,377 (GRCm39)	K14E	probably damaging	Het
Neb	G	T	2: 52,082,532 (GRCm39)	Q5450K	probably damaging	Het
Nedd1	T	A	10: 92,522,120 (GRCm39)	N639I	probably damaging	Het
Nlrp4e	A	T	7: 23,036,165 (GRCm39)	N673Y	probably benign	Het
Nop53	C	T	7: 15,676,129 (GRCm39)	R190Q	probably damaging	Het
Notch4	T	C	17: 34,789,092 (GRCm39)	Y468H	probably damaging	Het
Obscn	T	C	11: 58,958,433 (GRCm39)	T3507A	probably damaging	Het
Opn5	T	C	17: 42,922,187 (GRCm39)	H5R	probably benign	Het
Or4l15	T	C	14: 50,197,681 (GRCm39)	N283D	probably damaging	Het
Phactr3	A	G	2: 177,925,811 (GRCm39)	N362S	probably damaging	Het
Pirb	C	T	7: 3,720,602 (GRCm39)	G299S	probably benign	Het
Rapgef5	G	A	12: 117,719,809 (GRCm39)	R579Q	probably damaging	Het
Rgl1	T	C	1: 152,430,081 (GRCm39)	D234G	probably benign	Het
Serpinb3a	C	T	1: 106,976,316 (GRCm39)	E122K	probably benign	Het
Slc22a15	T	C	3: 101,782,919 (GRCm39)		probably benign	Het
Slc25a12	A	T	2: 71,127,149 (GRCm39)	V344E	probably damaging	Het
Slc43a2	T	C	11: 75,434,119 (GRCm39)	L99P	probably damaging	Het
Smim27	G	T	4: 40,269,719 (GRCm39)		probably null	Het
Smtn	A	G	11: 3,470,736 (GRCm39)		probably benign	Het
Szt2	A	T	4: 118,226,445 (GRCm39)	Y3001N	unknown	Het
Tgfbr3	G	T	5: 107,257,585 (GRCm39)	P825T	probably damaging	Het
Tnpo3	T	C	6: 29,568,937 (GRCm39)	T472A	probably benign	Het
Trf	T	A	9: 103,105,114 (GRCm39)	D66V	probably damaging	Het
Vmn1r124	A	G	7: 20,993,624 (GRCm39)	C307R	probably damaging	Het
Vps13b	T	A	15: 35,452,370 (GRCm39)	F656Y	possibly damaging	Het
Zic1	G	T	9: 91,244,584 (GRCm39)	S358R	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
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
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

Predicted Primers

PCR Primer
(F):5'- CACGGAGTTTCATAGTTATCCTCTTG -3'
(R):5'- TTGGCTAACAAAATAAGCTCCATAC -3'

Sequencing Primer
(F):5'- TCATAGTTATCCTCTTGGGTTTGAG -3'
(R):5'- CCAGGTCCCTAACATATCA -3'

Posted On

2016-03-01