Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02756:P4htm'

306450

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

P4htm

Ensembl Gene

ENSMUSG00000006675

Gene Name

prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)

Synonyms

P4h-tm, 4933406E20Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.093) question?

Stock #

IGL02756

Quality Score

Status

Chromosome

Chromosomal Location

108578862-108597667 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 108579778 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 410 (L410P)

Ref Sequence

ENSEMBL: ENSMUSP00000006853 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006853] [ENSMUST00000068700] [ENSMUST00000193621]

Predicted Effect

probably damaging
Transcript: ENSMUST00000006853
AA Change: L410P

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

SMART Domains

Protein: ENSMUSP00000006853
Gene: ENSMUSG00000006675
AA Change: L410P

Domain	Start	End	E-Value	Type
transmembrane domain	61	83	N/A	INTRINSIC
P4Hc	143	460	1.26e-19	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000068700

SMART Domains

Protein: ENSMUSP00000070927
Gene: ENSMUSG00000066357

Domain	Start	End	E-Value	Type
Blast:WD40	109	142	3e-6	BLAST
WD40	198	237	1.42e-4	SMART
WD40	247	284	7.28e-2	SMART
WD40	286	326	1.72e-3	SMART
Blast:WD40	336	375	3e-13	BLAST
WD40	479	519	2.96e1	SMART
low complexity region	537	552	N/A	INTRINSIC
WD40	559	598	1.77e2	SMART
Blast:WD40	600	641	7e-20	BLAST
Blast:WD40	764	815	2e-22	BLAST
Blast:WD40	855	896	2e-11	BLAST
WD40	900	949	1.48e1	SMART
WD40	973	1015	5.52e-2	SMART
WD40	1035	1076	3.98e0	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191674

Predicted Effect

probably benign
Transcript: ENSMUST00000192080

Predicted Effect

probably benign
Transcript: ENSMUST00000193621

SMART Domains

Protein: ENSMUSP00000141843
Gene: ENSMUSG00000006675

Domain	Start	End	E-Value	Type
transmembrane domain	61	83	N/A	INTRINSIC
Blast:P4Hc	143	211	5e-39	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194112

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194900

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195181

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene belongs to the family of prolyl 4-hydroxylases. This protein is a prolyl hydroxylase that may be involved in the degradation of hypoxia-inducible transcription factors under normoxia. It plays a role in adaptation to hypoxia and may be related to cellular oxygen sensing. Alternatively spliced variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit decreased body weight, normal erythropoiesis, and cardioprotection after ischemia-reperfusion injury. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700113H08Rik	A	T	10: 87,165,108	D54V	probably damaging	Het
Adamts18	C	A	8: 113,714,344		probably benign	Het
Angptl3	T	A	4: 99,031,162	L53Q	probably damaging	Het
Apc	A	G	18: 34,314,535	T1461A	probably damaging	Het
Arl11	T	A	14: 61,311,086	V115D	probably damaging	Het
Cabp4	C	A	19: 4,138,561	V173L	possibly damaging	Het
Casq1	T	A	1: 172,215,105	D230V	probably damaging	Het
Cdc42bpa	A	G	1: 180,109,259	I821V	possibly damaging	Het
Cfap65	T	C	1: 74,905,080	Y1494C	probably benign	Het
Chd1	T	A	17: 15,730,807	S215T	probably damaging	Het
Csf2rb2	T	C	15: 78,284,849	E593G	possibly damaging	Het
Cstf1	A	G	2: 172,375,875	D136G	probably damaging	Het
Ddx19b	T	C	8: 111,011,278		probably benign	Het
Dido1	A	T	2: 180,661,923	L1396Q	probably benign	Het
Ermn	A	G	2: 58,047,812	I263T	probably damaging	Het
F12	T	A	13: 55,421,067	Q294L	possibly damaging	Het
Far2	A	T	6: 148,157,391	I192F	probably damaging	Het
Fshb	T	A	2: 107,058,873	I29F	probably damaging	Het
Gcgr	T	A	11: 120,536,985	Y251N	probably benign	Het
Gpr158	A	G	2: 21,827,079	I997V	possibly damaging	Het
Gprc5d	A	G	6: 135,116,615	V98A	probably damaging	Het
H2-T23	T	C	17: 36,031,688	E186G	probably damaging	Het
Khdrbs3	C	T	15: 69,024,836	T115I	probably benign	Het
Kifap3	C	T	1: 163,862,028	T527M	probably damaging	Het
Mfsd2a	C	T	4: 122,948,539	A512T	probably benign	Het
Mmp9	A	G	2: 164,949,315	D135G	probably benign	Het
Mylk	T	C	16: 34,963,646	V1394A	probably benign	Het
Nek9	A	C	12: 85,311,336		probably null	Het
Olfr1008	T	C	2: 85,690,058	S210P	probably damaging	Het
Olfr638	T	C	7: 104,003,659	I128T	probably damaging	Het
P2rx2	T	A	5: 110,342,410		probably benign	Het
Pik3c2a	A	T	7: 116,364,513	W921R	probably benign	Het
Pnisr	T	C	4: 21,862,175	F288L	probably benign	Het
Ppp4r3a	C	T	12: 101,058,323		probably null	Het
Prss34	T	C	17: 25,299,277	S144P	probably damaging	Het
Qrsl1	T	C	10: 43,882,114	T328A	probably benign	Het
Rab33b	A	T	3: 51,484,524	T65S	probably damaging	Het
Rdh8	A	G	9: 20,825,341	S235G	possibly damaging	Het
Rrp12	T	C	19: 41,896,061	K6R	probably benign	Het
Sec24a	T	C	11: 51,696,733	D1025G	probably benign	Het
Sgo2a	T	G	1: 58,016,350	N564K	probably damaging	Het
Slc43a3	A	T	2: 84,944,268	M130L	probably benign	Het
Soat1	T	C	1: 156,446,575	I89V	probably benign	Het
St3gal5	A	G	6: 72,149,173	D307G	probably null	Het
Stxbp3-ps	C	T	19: 9,557,829		noncoding transcript	Het
Tacr2	A	G	10: 62,261,690		probably benign	Het
Tg	C	T	15: 66,734,586	T193I	probably benign	Het
Tnik	A	G	3: 28,542,030	T191A	probably damaging	Het
Trim27	T	C	13: 21,190,086		probably benign	Het
Usf2	A	T	7: 30,946,992	C134*	probably null	Het
Usp14	A	G	18: 10,001,769		probably null	Het
Usp47	T	C	7: 112,093,063	S911P	possibly damaging	Het
Vmn1r73	T	A	7: 11,756,647	S131T	possibly damaging	Het
Vmn2r80	T	C	10: 79,194,311	I657T	probably damaging	Het
Zfp935	A	T	13: 62,454,887	C166*	probably null	Het

Other mutations in P4htm

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01621:P4htm	APN	9	108583736	missense	probably damaging	1.00
IGL02205:P4htm	APN	9	108581962	missense	probably benign	0.08
IGL02802:P4htm	UTSW	9	108582856	missense	probably benign	0.00
R0605:P4htm	UTSW	9	108583724	missense	probably null	0.17
R3922:P4htm	UTSW	9	108582895	missense	probably benign
R4562:P4htm	UTSW	9	108581996	missense	probably null	1.00
R4730:P4htm	UTSW	9	108579772	missense	possibly damaging	0.89
R4900:P4htm	UTSW	9	108579228	missense	probably damaging	1.00
R5027:P4htm	UTSW	9	108579293	missense	probably benign	0.16
R5124:P4htm	UTSW	9	108581942	missense	possibly damaging	0.59
R5633:P4htm	UTSW	9	108579723	missense	probably damaging	1.00
R5877:P4htm	UTSW	9	108583733	missense	possibly damaging	0.94
R5927:P4htm	UTSW	9	108597383	missense	probably damaging	1.00
R6163:P4htm	UTSW	9	108581951	missense	probably damaging	0.99
R6798:P4htm	UTSW	9	108582918	missense	possibly damaging	0.83
R6920:P4htm	UTSW	9	108583613	missense	probably benign	0.01
R6962:P4htm	UTSW	9	108579195	missense	possibly damaging	0.49
R7066:P4htm	UTSW	9	108596963	missense	probably damaging	0.98
R7183:P4htm	UTSW	9	108581860	missense	possibly damaging	0.95
R7376:P4htm	UTSW	9	108580792	missense	probably damaging	0.98
R7506:P4htm	UTSW	9	108583679	missense	probably damaging	1.00
R7533:P4htm	UTSW	9	108596937	missense	probably benign	0.02
R7874:P4htm	UTSW	9	108596949	missense	probably benign	0.01
R7957:P4htm	UTSW	9	108596949	missense	probably benign	0.01

Posted On

2015-04-16