Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01780:Patl2'

154162

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Patl2

Ensembl Gene

ENSMUSG00000027233

Gene Name

protein associated with topoisomerase II homolog 2 (yeast)

Synonyms

Pat1a, 4930424G05Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.201) question?

Stock #

IGL01780

Quality Score

Status

Chromosome

Chromosomal Location

122120108-122186189 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 122121846 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 468 (S468R)

Ref Sequence

ENSEMBL: ENSMUSP00000028665 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028665] [ENSMUST00000036450]

Predicted Effect

probably damaging
Transcript: ENSMUST00000028665
AA Change: S468R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000028665
Gene: ENSMUSG00000027233
AA Change: S468R

Domain	Start	End	E-Value	Type
low complexity region	33	41	N/A	INTRINSIC
low complexity region	143	165	N/A	INTRINSIC
low complexity region	215	227	N/A	INTRINSIC
Pfam:PAT1	247	490	6.7e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000036450

SMART Domains

Protein: ENSMUSP00000037543
Gene: ENSMUSG00000033396

Domain	Start	End	E-Value	Type
low complexity region	2	18	N/A	INTRINSIC
low complexity region	254	276	N/A	INTRINSIC
low complexity region	945	958	N/A	INTRINSIC
low complexity region	1250	1264	N/A	INTRINSIC
low complexity region	1305	1313	N/A	INTRINSIC
low complexity region	1673	1684	N/A	INTRINSIC
low complexity region	1772	1784	N/A	INTRINSIC
Pfam:Spatacsin_C	2082	2374	1.1e-105	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133145

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135847

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010111I01Rik	A	G	13: 63,210,125	N648D	probably benign	Het
Abhd8	A	G	8: 71,461,477	V169A	probably benign	Het
BC024139	C	A	15: 76,121,143	L506F	probably benign	Het
Cfap65	A	T	1: 74,928,348	C190*	probably null	Het
Cib2	A	T	9: 54,549,886	H31Q	probably damaging	Het
Emb	A	G	13: 117,249,471		probably benign	Het
Eml6	T	C	11: 29,805,175	M867V	probably benign	Het
Flnc	A	T	6: 29,438,493	K129*	probably null	Het
Gckr	C	A	5: 31,307,790	H368N	possibly damaging	Het
Gmds	A	T	13: 32,225,162	Y106*	probably null	Het
Homez	T	C	14: 54,857,898	T118A	probably damaging	Het
Kcnh7	G	A	2: 62,837,163	T344I	probably benign	Het
Kcnt2	A	G	1: 140,351,269	I53V	probably benign	Het
Krt13	A	T	11: 100,119,713	L207Q	probably damaging	Het
Lipo2	A	G	19: 33,730,948	L222P	possibly damaging	Het
Lrp2	A	C	2: 69,486,184	V2151G	possibly damaging	Het
Mrc2	A	G	11: 105,325,721	D112G	probably damaging	Het
Mrgpra6	T	C	7: 47,188,749	T234A	probably damaging	Het
Mroh2b	A	G	15: 4,912,000	N338S	probably benign	Het
Mrpl23	T	A	7: 142,536,065		probably benign	Het
Myo18a	A	G	11: 77,850,247	N1442S	probably benign	Het
Nxn	A	G	11: 76,274,654		probably benign	Het
Olfr1132	T	C	2: 87,635,080	I222M	possibly damaging	Het
Osmr	A	T	15: 6,828,663	N441K	probably benign	Het
Pcdhb1	T	C	18: 37,266,522	S509P	probably damaging	Het
Pmp22	G	T	11: 63,158,308	V126F	probably benign	Het
Prom1	A	G	5: 44,029,604		probably benign	Het
Prss1	C	A	6: 41,463,205	Q159K	probably damaging	Het
Psd3	G	T	8: 67,963,869	H459N	probably benign	Het
Rasgrp1	A	G	2: 117,284,878	L743P	probably benign	Het
Rpusd4	G	A	9: 35,268,424	R71Q	probably damaging	Het
Rsf1	C	T	7: 97,664,770		probably benign	Het
Scaf11	T	C	15: 96,420,844	T280A	possibly damaging	Het
Slc16a4	A	G	3: 107,303,099	I362V	probably benign	Het
Syt16	T	C	12: 74,266,842	V514A	probably benign	Het
Tdpoz2	A	G	3: 93,652,428	V79A	possibly damaging	Het
Tenm2	A	G	11: 36,046,941	M1635T	probably benign	Het
Uhrf1bp1	T	C	17: 27,893,500	L1221P	probably damaging	Het
Vmn1r195	A	G	13: 22,279,085	T242A	probably benign	Het
Zfp423	A	G	8: 87,781,508	V736A	probably damaging	Het

Other mutations in Patl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01293:Patl2	APN	2	122123810	missense	probably benign	0.19
IGL02604:Patl2	APN	2	122125333	missense	possibly damaging	0.80
IGL02713:Patl2	APN	2	122125847	missense	probably benign	0.01
IGL02990:Patl2	APN	2	122124497	critical splice acceptor site	probably null
FR4304:Patl2	UTSW	2	122126135	small insertion	probably benign
FR4548:Patl2	UTSW	2	122126135	small insertion	probably benign
FR4737:Patl2	UTSW	2	122126136	small insertion	probably benign
FR4737:Patl2	UTSW	2	122126144	nonsense	probably null
FR4737:Patl2	UTSW	2	122126145	small insertion	probably benign
FR4976:Patl2	UTSW	2	122126139	small insertion	probably benign
FR4976:Patl2	UTSW	2	122126141	small insertion	probably benign
FR4976:Patl2	UTSW	2	122126144	small insertion	probably benign
FR4976:Patl2	UTSW	2	122126145	small insertion	probably benign
R0001:Patl2	UTSW	2	122125710	splice site	probably benign
R0002:Patl2	UTSW	2	122125710	splice site	probably benign
R0540:Patl2	UTSW	2	122126669	missense	probably benign
R0570:Patl2	UTSW	2	122125308	missense	probably damaging	0.99
R0607:Patl2	UTSW	2	122126669	missense	probably benign
R1463:Patl2	UTSW	2	122123735	missense	probably benign	0.38
R2992:Patl2	UTSW	2	122125754	missense	probably damaging	0.97
R4329:Patl2	UTSW	2	122127537	missense	probably benign	0.01
R4583:Patl2	UTSW	2	122126745	missense	probably benign	0.00
R4737:Patl2	UTSW	2	122125306	missense	probably damaging	1.00
R4965:Patl2	UTSW	2	122128848	nonsense	probably null
R5091:Patl2	UTSW	2	122123802	missense	probably benign	0.01
R5256:Patl2	UTSW	2	122128887	missense	probably damaging	1.00
R5450:Patl2	UTSW	2	122125281	missense	probably benign	0.00
R5990:Patl2	UTSW	2	122124484	missense	probably damaging	1.00
R6028:Patl2	UTSW	2	122126137	missense	possibly damaging	0.76
R6107:Patl2	UTSW	2	122127486	missense	probably damaging	0.98
R6597:Patl2	UTSW	2	122186164	start gained	probably benign
R6969:Patl2	UTSW	2	122128929	missense	possibly damaging	0.52
R7131:Patl2	UTSW	2	122121782	critical splice donor site	probably null
R7436:Patl2	UTSW	2	122127525	missense	probably benign	0.00

Posted On

2014-02-04