Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00543:Ppig'

332574

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ppig

Ensembl Gene

ENSMUSG00000042133

Gene Name

peptidyl-prolyl isomerase G (cyclophilin G)

Synonyms

SRCyp, B230312B02Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.816) question?

Stock #

IGL00543

Quality Score

Status

Chromosome

Chromosomal Location

69553152-69584356 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 69580060 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 531 (H531Q)

Ref Sequence

ENSEMBL: ENSMUSP00000088370 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040915] [ENSMUST00000090858]

AlphaFold

A2AR02

Predicted Effect

unknown
Transcript: ENSMUST00000040915
AA Change: H531Q

SMART Domains

Protein: ENSMUSP00000045945
Gene: ENSMUSG00000042133
AA Change: H531Q

Domain	Start	End	E-Value	Type
Pfam:Pro_isomerase	11	176	2.8e-50	PFAM
low complexity region	180	258	N/A	INTRINSIC
low complexity region	272	280	N/A	INTRINSIC
low complexity region	295	307	N/A	INTRINSIC
low complexity region	334	354	N/A	INTRINSIC
low complexity region	417	433	N/A	INTRINSIC
low complexity region	441	478	N/A	INTRINSIC
internal_repeat_1	483	518	1.1e-9	PROSPERO
internal_repeat_2	485	555	1.1e-9	PROSPERO
internal_repeat_3	506	556	4.26e-7	PROSPERO
internal_repeat_1	521	556	1.1e-9	PROSPERO
low complexity region	559	586	N/A	INTRINSIC
low complexity region	591	637	N/A	INTRINSIC
internal_repeat_3	646	693	4.26e-7	PROSPERO
internal_repeat_4	653	686	6.68e-6	PROSPERO
internal_repeat_2	661	735	1.1e-9	PROSPERO
internal_repeat_4	711	744	6.68e-6	PROSPERO

Predicted Effect

unknown
Transcript: ENSMUST00000090858
AA Change: H531Q

SMART Domains

Protein: ENSMUSP00000088370
Gene: ENSMUSG00000042133
AA Change: H531Q

Domain	Start	End	E-Value	Type
Pfam:Pro_isomerase	11	176	2.7e-49	PFAM
low complexity region	180	258	N/A	INTRINSIC
low complexity region	272	280	N/A	INTRINSIC
low complexity region	295	307	N/A	INTRINSIC
low complexity region	334	354	N/A	INTRINSIC
low complexity region	417	433	N/A	INTRINSIC
low complexity region	441	478	N/A	INTRINSIC
internal_repeat_1	483	518	1.1e-9	PROSPERO
internal_repeat_2	485	555	1.1e-9	PROSPERO
internal_repeat_3	506	556	4.26e-7	PROSPERO
internal_repeat_1	521	556	1.1e-9	PROSPERO
low complexity region	559	586	N/A	INTRINSIC
low complexity region	591	637	N/A	INTRINSIC
internal_repeat_3	646	693	4.26e-7	PROSPERO
internal_repeat_4	653	686	6.68e-6	PROSPERO
internal_repeat_2	661	735	1.1e-9	PROSPERO
internal_repeat_4	711	744	6.68e-6	PROSPERO

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143954

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acvr1c	A	G	2: 58,205,835 (GRCm39)	C42R	probably damaging	Het
Adamts1	T	C	16: 85,592,461 (GRCm39)	H649R	probably benign	Het
Capn3	T	C	2: 120,316,963 (GRCm39)		probably benign	Het
Cd44	T	C	2: 102,686,292 (GRCm39)	T135A	possibly damaging	Het
Cntnap5c	T	A	17: 58,601,345 (GRCm39)	I831N	probably benign	Het
Eprs1	G	T	1: 185,139,345 (GRCm39)	C910F	probably benign	Het
Epx	T	C	11: 87,760,751 (GRCm39)	R394G	probably damaging	Het
Hps5	T	C	7: 46,427,497 (GRCm39)	D338G	probably benign	Het
Ikbkg	T	C	X: 73,476,466 (GRCm39)	V14A	probably damaging	Het
Lrp1b	A	G	2: 41,358,960 (GRCm39)	F638L	possibly damaging	Het
Lyz3	G	T	10: 117,074,352 (GRCm39)	T45K	probably benign	Het
Mak	A	T	13: 41,209,189 (GRCm39)	Y87N	probably damaging	Het
Morc2a	T	A	11: 3,630,283 (GRCm39)	I493N	probably damaging	Het
Msl2	T	A	9: 100,978,269 (GRCm39)	H214Q	probably benign	Het
Myom3	A	C	4: 135,489,882 (GRCm39)	T18P	possibly damaging	Het
Ndst3	G	T	3: 123,465,912 (GRCm39)	T20N	probably damaging	Het
Nelfe	T	A	17: 35,072,592 (GRCm39)	S124T	possibly damaging	Het
Niban2	T	A	2: 32,802,483 (GRCm39)	F158Y	probably benign	Het
Nlgn1	T	G	3: 25,487,945 (GRCm39)	T797P	probably damaging	Het
Pcdh18	T	C	3: 49,707,828 (GRCm39)	D414G	probably damaging	Het
Pde4dip	T	C	3: 97,664,940 (GRCm39)	S386G	possibly damaging	Het
Ppm1n	T	C	7: 19,012,109 (GRCm39)	Y348C	probably benign	Het
Rdh9	T	C	10: 127,626,853 (GRCm39)	V302A	probably benign	Het
Serpinb3b	A	G	1: 107,085,396 (GRCm39)		probably null	Het
Slc39a10	A	G	1: 46,858,217 (GRCm39)		probably benign	Het

Other mutations in Ppig

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00780:Ppig	APN	2	69,563,268 (GRCm39)	missense	possibly damaging	0.89
IGL02043:Ppig	APN	2	69,566,327 (GRCm39)	splice site	probably null
IGL02420:Ppig	APN	2	69,562,571 (GRCm39)	missense	probably benign	0.03
IGL02736:Ppig	APN	2	69,566,438 (GRCm39)	missense	probably damaging	1.00
R0358:Ppig	UTSW	2	69,573,942 (GRCm39)	splice site	probably benign
R0396:Ppig	UTSW	2	69,566,320 (GRCm39)	unclassified	probably benign
R1035:Ppig	UTSW	2	69,579,803 (GRCm39)	missense	unknown
R1159:Ppig	UTSW	2	69,580,568 (GRCm39)	missense	unknown
R1396:Ppig	UTSW	2	69,579,362 (GRCm39)	missense	unknown
R1593:Ppig	UTSW	2	69,579,425 (GRCm39)	missense	unknown
R1629:Ppig	UTSW	2	69,566,217 (GRCm39)	missense	probably damaging	1.00
R1799:Ppig	UTSW	2	69,579,744 (GRCm39)	missense	unknown
R2001:Ppig	UTSW	2	69,571,988 (GRCm39)	missense	unknown
R2112:Ppig	UTSW	2	69,580,451 (GRCm39)	missense	unknown
R3702:Ppig	UTSW	2	69,563,553 (GRCm39)	missense	probably damaging	1.00
R3855:Ppig	UTSW	2	69,579,719 (GRCm39)	missense	unknown
R4999:Ppig	UTSW	2	69,571,830 (GRCm39)	missense	unknown
R5001:Ppig	UTSW	2	69,571,830 (GRCm39)	missense	unknown
R5153:Ppig	UTSW	2	69,579,994 (GRCm39)	missense	unknown
R5218:Ppig	UTSW	2	69,563,127 (GRCm39)	intron	probably benign
R5336:Ppig	UTSW	2	69,580,568 (GRCm39)	missense	unknown
R5410:Ppig	UTSW	2	69,566,241 (GRCm39)	missense	probably null	1.00
R5443:Ppig	UTSW	2	69,564,635 (GRCm39)	missense	probably damaging	1.00
R5513:Ppig	UTSW	2	69,580,703 (GRCm39)	missense	probably benign	0.23
R6179:Ppig	UTSW	2	69,580,471 (GRCm39)	missense	unknown
R6333:Ppig	UTSW	2	69,579,902 (GRCm39)	missense	unknown
R6604:Ppig	UTSW	2	69,571,925 (GRCm39)	missense	unknown
R6932:Ppig	UTSW	2	69,562,755 (GRCm39)	missense	probably benign	0.40
R7206:Ppig	UTSW	2	69,571,910 (GRCm39)	missense	unknown
R7220:Ppig	UTSW	2	69,580,320 (GRCm39)	missense	unknown
R7308:Ppig	UTSW	2	69,579,806 (GRCm39)	missense	unknown

Posted On

2015-08-05