Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02123:Ptrh1'

280744

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ptrh1

Ensembl Gene

ENSMUSG00000053746

Gene Name

peptidyl-tRNA hydrolase 1 homolog

Synonyms

2210013M04Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.101) question?

Stock #

IGL02123

Quality Score

Status

Chromosome

Chromosomal Location

32665798-32667609 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 32666826 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000124054 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000066352] [ENSMUST00000066478] [ENSMUST00000091059] [ENSMUST00000102813] [ENSMUST00000125891] [ENSMUST00000161430] [ENSMUST00000161950] [ENSMUST00000161089] [ENSMUST00000161958]

AlphaFold

Q8BW00

Predicted Effect

probably benign
Transcript: ENSMUST00000066352

SMART Domains

Protein: ENSMUSP00000068850
Gene: ENSMUSG00000053746

Domain	Start	End	E-Value	Type
Pfam:Pept_tRNA_hydro	22	200	6.3e-39	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000066478

SMART Domains

Protein: ENSMUSP00000068977
Gene: ENSMUSG00000039021

Domain	Start	End	E-Value	Type
TPR	18	51	2.26e-3	SMART
TPR	52	85	4.09e-1	SMART
TPR	93	126	8.3e-2	SMART
TPR	161	194	4.44e1	SMART
TPR	208	241	3.69e1	SMART
TPR	242	275	1.08e1	SMART
Blast:TPR	288	321	2e-10	BLAST
TPR	322	355	1.02e-1	SMART
TPR	363	396	7.27e0	SMART
Blast:TPR	397	430	2e-12	BLAST
low complexity region	539	554	N/A	INTRINSIC
low complexity region	565	577	N/A	INTRINSIC
low complexity region	629	640	N/A	INTRINSIC
low complexity region	725	750	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000091059

SMART Domains

Protein: ENSMUSP00000088585
Gene: ENSMUSG00000039021

Domain	Start	End	E-Value	Type
TPR	75	108	2.26e-3	SMART
TPR	109	142	4.09e-1	SMART
TPR	150	183	8.3e-2	SMART
TPR	218	251	4.44e1	SMART
TPR	265	298	3.69e1	SMART
TPR	299	332	1.08e1	SMART
Blast:TPR	345	378	2e-10	BLAST
TPR	379	412	1.02e-1	SMART
TPR	420	453	7.27e0	SMART
Blast:TPR	454	487	2e-12	BLAST
low complexity region	631	644	N/A	INTRINSIC
low complexity region	666	679	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000102813

SMART Domains

Protein: ENSMUSP00000099877
Gene: ENSMUSG00000038987

Domain	Start	End	E-Value	Type
coiled coil region	32	191	N/A	INTRINSIC
coiled coil region	301	371	N/A	INTRINSIC
low complexity region	402	416	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123674

Predicted Effect

probably benign
Transcript: ENSMUST00000125891

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138214

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192262

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150918

Predicted Effect

probably benign
Transcript: ENSMUST00000161430

SMART Domains

Protein: ENSMUSP00000124031
Gene: ENSMUSG00000039021

Domain	Start	End	E-Value	Type
TPR	75	108	2.26e-3	SMART
TPR	109	142	4.09e-1	SMART
TPR	150	183	8.3e-2	SMART
TPR	218	251	4.44e1	SMART
TPR	265	298	3.69e1	SMART
TPR	299	332	1.08e1	SMART
Blast:TPR	345	378	2e-10	BLAST
TPR	379	412	1.02e-1	SMART
TPR	420	453	7.27e0	SMART
Blast:TPR	454	487	2e-12	BLAST
low complexity region	596	611	N/A	INTRINSIC
low complexity region	622	634	N/A	INTRINSIC
low complexity region	686	697	N/A	INTRINSIC
low complexity region	782	807	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000161950

SMART Domains

Protein: ENSMUSP00000123927
Gene: ENSMUSG00000039021

Domain	Start	End	E-Value	Type
TPR	18	51	2.26e-3	SMART
TPR	52	85	4.09e-1	SMART
TPR	93	126	8.3e-2	SMART
TPR	161	194	4.44e1	SMART
TPR	208	241	3.69e1	SMART
TPR	242	275	1.08e1	SMART
Blast:TPR	288	321	2e-10	BLAST
TPR	322	355	1.02e-1	SMART
TPR	363	396	7.27e0	SMART
Blast:TPR	397	430	2e-12	BLAST
low complexity region	539	554	N/A	INTRINSIC
low complexity region	565	577	N/A	INTRINSIC
low complexity region	629	640	N/A	INTRINSIC
low complexity region	725	750	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000161089

SMART Domains

Protein: ENSMUSP00000124915
Gene: ENSMUSG00000039021

Domain	Start	End	E-Value	Type
TPR	18	51	2.26e-3	SMART
TPR	52	85	4.09e-1	SMART
TPR	93	126	8.3e-2	SMART
TPR	161	194	4.44e1	SMART
TPR	208	241	3.69e1	SMART
TPR	242	275	1.08e1	SMART
Blast:TPR	288	321	2e-10	BLAST
TPR	322	355	1.02e-1	SMART
TPR	363	396	7.27e0	SMART
Blast:TPR	397	430	2e-12	BLAST
low complexity region	539	554	N/A	INTRINSIC
low complexity region	565	577	N/A	INTRINSIC
low complexity region	629	640	N/A	INTRINSIC
low complexity region	725	750	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000161958

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp7	T	C	7: 28,328,914 (GRCm39)	T31A	probably benign	Het
Aldh16a1	G	A	7: 44,795,459 (GRCm39)	P400L	probably damaging	Het
Ampd3	T	C	7: 110,401,766 (GRCm39)	V429A	possibly damaging	Het
Brd8	C	T	18: 34,735,780 (GRCm39)	S899N	probably damaging	Het
Cldn11	C	T	3: 31,204,336 (GRCm39)	T13M	probably benign	Het
Cngb3	C	A	4: 19,367,801 (GRCm39)	Q237K	probably damaging	Het
Col12a1	A	G	9: 79,569,740 (GRCm39)		probably null	Het
Copa	T	A	1: 171,939,695 (GRCm39)	L621H	probably damaging	Het
Dbn1	T	C	13: 55,624,553 (GRCm39)	D332G	possibly damaging	Het
Drc1	T	C	5: 30,504,448 (GRCm39)	S197P	probably benign	Het
E2f2	A	G	4: 135,900,159 (GRCm39)	N23S	probably benign	Het
Epb41l2	T	A	10: 25,336,742 (GRCm39)	L246H	probably damaging	Het
Fam13b	G	A	18: 34,578,671 (GRCm39)		probably benign	Het
Fam184b	A	G	5: 45,796,493 (GRCm39)	M30T	possibly damaging	Het
Fn3krp	G	A	11: 121,320,270 (GRCm39)	R205H	probably benign	Het
Fndc11	A	G	2: 180,863,443 (GRCm39)	I83V	probably benign	Het
Garin2	T	C	12: 78,780,981 (GRCm39)		probably null	Het
Gm3629	C	T	14: 17,834,541 (GRCm39)	R150H	probably benign	Het
Hs6st1	T	A	1: 36,142,952 (GRCm39)	F296I	possibly damaging	Het
Igsf10	T	A	3: 59,226,081 (GRCm39)	I2531F	probably damaging	Het
Klhl40	T	C	9: 121,608,989 (GRCm39)	F385L	probably benign	Het
Krt87	A	T	15: 101,385,466 (GRCm39)	M302K	possibly damaging	Het
Lrrc43	A	T	5: 123,632,342 (GRCm39)	I162F	probably damaging	Het
Map3k21	A	G	8: 126,652,849 (GRCm39)	E325G	probably damaging	Het
Mpo	A	T	11: 87,685,621 (GRCm39)	N33I	probably benign	Het
Mpp4	A	G	1: 59,200,625 (GRCm39)		probably null	Het
Muc5b	C	T	7: 141,417,494 (GRCm39)	T3480I	possibly damaging	Het
Myo6	T	C	9: 80,171,554 (GRCm39)		probably benign	Het
Nostrin	C	T	2: 68,986,453 (GRCm39)		probably benign	Het
Nphp1	T	C	2: 127,595,969 (GRCm39)	M498V	probably benign	Het
Nr4a2	A	T	2: 57,001,667 (GRCm39)	L199Q	possibly damaging	Het
Pcdhb6	A	T	18: 37,468,873 (GRCm39)	N598I	probably damaging	Het
Pex19	T	A	1: 171,961,853 (GRCm39)	M207K	probably damaging	Het
Pfkfb4	C	T	9: 108,854,178 (GRCm39)	R351W	probably damaging	Het
Plekha2	T	C	8: 25,532,745 (GRCm39)	K409E	probably damaging	Het
Plxna2	T	C	1: 194,476,691 (GRCm39)	L1169P	probably damaging	Het
Pmpcb	A	G	5: 21,948,373 (GRCm39)		probably benign	Het
Rc3h2	T	C	2: 37,288,265 (GRCm39)	E439G	probably damaging	Het
Ric1	C	T	19: 29,572,200 (GRCm39)	A665V	probably benign	Het
Stx18	T	A	5: 38,285,447 (GRCm39)	V219D	probably damaging	Het
Taf7	A	T	18: 37,775,533 (GRCm39)		probably benign	Het
Tbc1d8	A	G	1: 39,415,988 (GRCm39)	I895T	possibly damaging	Het
Tbc1d8	A	G	1: 39,419,317 (GRCm39)	S766P	probably damaging	Het
Tekt3	C	A	11: 62,974,766 (GRCm39)	H362N	probably benign	Het
Tmem214	G	A	5: 31,030,090 (GRCm39)	A296T	probably benign	Het
Tmem94	T	C	11: 115,678,364 (GRCm39)	S196P	possibly damaging	Het
Vmn2r14	T	C	5: 109,367,933 (GRCm39)	Y353C	probably damaging	Het
Vmn2r9	G	A	5: 108,991,502 (GRCm39)	L620F	probably damaging	Het
Vmn2r90	T	G	17: 17,953,744 (GRCm39)	M636R	probably benign	Het
Vmn2r98	T	A	17: 19,300,941 (GRCm39)	C648S	probably damaging	Het
Zfpm2	G	A	15: 40,965,591 (GRCm39)	C560Y	probably damaging	Het

Other mutations in Ptrh1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00328:Ptrh1	APN	2	32,666,353 (GRCm39)	splice site	probably null
R2155:Ptrh1	UTSW	2	32,667,040 (GRCm39)	missense	possibly damaging	0.67
R2484:Ptrh1	UTSW	2	32,667,183 (GRCm39)	missense	probably benign
R4948:Ptrh1	UTSW	2	32,666,557 (GRCm39)	unclassified	probably benign
R5332:Ptrh1	UTSW	2	32,666,758 (GRCm39)	missense	probably damaging	0.96
R5449:Ptrh1	UTSW	2	32,666,358 (GRCm39)	missense	probably damaging	1.00
R6213:Ptrh1	UTSW	2	32,666,757 (GRCm39)	missense	probably benign	0.08
R9727:Ptrh1	UTSW	2	32,665,854 (GRCm39)	missense	probably benign

Posted On

2015-04-16