Mutagenetix > Incidental Mutation

Incidental Mutation 'R7040:Patl1'

547030

Institutional Source

Beutler Lab

Gene Symbol

Patl1

Ensembl Gene

ENSMUSG00000046139

Gene Name

protein associated with topoisomerase II homolog 1 (yeast)

Synonyms

Pat1b

MMRRC Submission

045013-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.420) question?

Stock #

R7040 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

11912399-11945096 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 11929954 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 401 (Y401N)

Ref Sequence

ENSEMBL: ENSMUSP00000060398 (fasta)

Gene Model

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

AlphaFold

Q3TC46

Predicted Effect

possibly damaging
Transcript: ENSMUST00000061618
AA Change: Y401N

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000060398
Gene: ENSMUSG00000046139
AA Change: Y401N

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: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130023H24Rik	A	G	7: 128,236,725	L232P	possibly damaging	Het
Acaa1a	T	C	9: 119,349,038	V312A	probably damaging	Het
Bmp2	A	G	2: 133,561,684	D385G	probably damaging	Het
C1qtnf9	T	C	14: 60,779,792	V257A	probably damaging	Het
Cd3d	G	A	9: 44,985,693	V122I	probably damaging	Het
Cdc37	T	C	9: 21,142,223	E199G	probably damaging	Het
Crb2	T	A	2: 37,787,684	D326E	probably benign	Het
Cyp2c29	A	C	19: 39,330,337	K420N	possibly damaging	Het
Cyp2g1	A	C	7: 26,820,759	D472A	probably damaging	Het
Dab2	A	C	15: 6,422,251	H116P	probably damaging	Het
Dnah7b	G	C	1: 46,236,809	E2619Q	probably benign	Het
Dsg4	A	T	18: 20,451,852	M208L	probably benign	Het
Eif4enif1	T	G	11: 3,234,040	V521G	probably benign	Het
Fan1	T	A	7: 64,372,486	N340Y	probably damaging	Het
Fpr-rs6	A	G	17: 20,182,934	M55T	probably damaging	Het
Grhpr	A	G	4: 44,985,362	S101G	probably damaging	Het
Kif15	T	A	9: 123,011,614	D33E	possibly damaging	Het
Krt1	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	15: 101,850,378		probably benign	Het
Lama4	A	G	10: 39,060,162	Q611R	possibly damaging	Het
Lrrc47	T	A	4: 154,020,452	*123R	probably null	Het
Map4k3	A	C	17: 80,680,915	V36G	probably damaging	Het
Mme	T	A	3: 63,368,923	I707N	probably damaging	Het
Muc2	A	G	7: 141,751,457	E166G	unknown	Het
Mucl1	T	A	15: 103,753,578	T108S	possibly damaging	Het
Myo1h	A	T	5: 114,359,744	D53V	possibly damaging	Het
Naa15	T	A	3: 51,472,784	L811Q	possibly damaging	Het
Nalcn	T	C	14: 123,287,855	T1487A	probably benign	Het
Nme8	A	T	13: 19,694,328	L87H	probably damaging	Het
Nr2e1	A	G	10: 42,568,378	V245A	probably damaging	Het
Nt5c2	A	T	19: 46,893,535	F291Y	possibly damaging	Het
Olfr1337	T	C	4: 118,781,986	M200V	probably benign	Het
Olfr1508	T	C	14: 52,463,475	D178G	possibly damaging	Het
Olfr556	A	T	7: 102,670,730	Q270L	probably benign	Het
Olfr668	A	T	7: 104,925,510	C85S	probably benign	Het
Ooep	T	C	9: 78,378,401	N43S	possibly damaging	Het
Ovch2	A	T	7: 107,796,565	I82N	probably damaging	Het
Palb2	A	T	7: 122,114,399	M524K	possibly damaging	Het
Patj	T	C	4: 98,441,080	S524P	probably benign	Het
Pcdhb20	A	T	18: 37,504,717	T99S	probably benign	Het
Plcb4	G	A	2: 135,932,262	A155T	probably benign	Het
Rpap3	A	G	15: 97,679,112	V585A	possibly damaging	Het
Sorbs1	G	C	19: 40,376,800	R180G	probably benign	Het
Spen	T	A	4: 141,494,382	T302S	unknown	Het
Tenm4	G	A	7: 96,553,496	R106H	probably benign	Het
Ube2o	T	C	11: 116,541,860	E760G	probably benign	Het
Uimc1	T	A	13: 55,075,454		probably null	Het
Usp16	C	T	16: 87,480,929	A689V	probably damaging	Het
Vmn2r60	G	A	7: 42,142,242	A530T	probably benign	Het
Vps8	T	A	16: 21,575,022	M1185K	probably damaging	Het
Vwa8	T	C	14: 78,912,205	S136P	probably damaging	Het
Ythdc2	A	G	18: 44,834,462	N175S	probably benign	Het
Zfp160	A	T	17: 21,026,532	H448L	probably damaging	Het
Zfp90	T	A	8: 106,425,009	C451*	probably null	Het
Zfp945	A	G	17: 22,852,290	C212R	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
R5321:Patl1	UTSW	19	11921421	missense	probably damaging	0.99
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
R7387:Patl1	UTSW	19	11933730	missense	probably benign	0.01
R8754:Patl1	UTSW	19	11922534	missense	probably damaging	0.97
R8936:Patl1	UTSW	19	11914361	missense	probably damaging	1.00
R8984:Patl1	UTSW	19	11921396	missense	probably damaging	0.98
R9088:Patl1	UTSW	19	11942925	missense	possibly damaging	0.58
R9106:Patl1	UTSW	19	11931609	missense	probably damaging	0.97
R9309:Patl1	UTSW	19	11935718	missense	probably damaging	0.98
R9431:Patl1	UTSW	19	11921451	missense	probably damaging	1.00
R9499:Patl1	UTSW	19	11920364	missense	possibly damaging	0.84

Predicted Primers

PCR Primer
(F):5'- AGGGTGCAGTTCCGTTTTCC -3'
(R):5'- GGCAATAGCTCAATAGAAAGTCTAC -3'

Sequencing Primer
(F):5'- TTCCTTCACAAAAATCAAAGGGGG -3'
(R):5'- TCTAAGCTAGCCTGGCTA -3'

Posted On

2019-05-13