Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01621:P4htm'

92584

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: 0.125) question?

Stock #

IGL01621

Quality Score

Status

Chromosome

Chromosomal Location

108578862-108597667 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 108583736 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 106 (E106V)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000006853
AA Change: E179V

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000006853
Gene: ENSMUSG00000006675
AA Change: E179V

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 damaging
Transcript: ENSMUST00000192080
AA Change: E106V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

probably damaging
Transcript: ENSMUST00000193621
AA Change: E179V

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000141843
Gene: ENSMUSG00000006675
AA Change: E179V

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227071

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	C	T	5: 63,898,383	T154I	possibly damaging	Het
4933434E20Rik	T	A	3: 90,064,502	M56K	possibly damaging	Het
5730559C18Rik	C	A	1: 136,219,775	A402S	probably damaging	Het
A730017C20Rik	A	G	18: 59,062,386	M1V	probably null	Het
Abca6	A	G	11: 110,184,708	L1319S	probably damaging	Het
Adh4	C	T	3: 138,429,027		probably benign	Het
Aloxe3	A	G	11: 69,130,013	N188S	probably benign	Het
Ap1s1	G	A	5: 137,041,804	R119*	probably null	Het
Apc2	T	G	10: 80,306,201	L318R	probably damaging	Het
Atg101	A	G	15: 101,287,095	S33G	possibly damaging	Het
Atp8a2	A	T	14: 60,015,868		probably benign	Het
Bpifb9b	C	A	2: 154,316,951		probably null	Het
Braf	A	T	6: 39,646,853		probably benign	Het
Cabp5	A	G	7: 13,401,264	D43G	probably damaging	Het
Cfap46	T	C	7: 139,606,607	N2462S	unknown	Het
Cit	C	T	5: 115,992,603		probably benign	Het
Cpa4	T	C	6: 30,574,416	V68A	probably damaging	Het
Cyp2j5	T	C	4: 96,629,554	I474V	probably benign	Het
Dennd1a	C	A	2: 37,844,809	D49Y	probably damaging	Het
Dlg5	T	C	14: 24,148,221	D1525G	probably damaging	Het
Dnajc18	C	T	18: 35,680,840	R292H	probably benign	Het
Dync2h1	A	G	9: 7,140,897		probably null	Het
E2f6	A	G	12: 16,825,368	D268G	probably benign	Het
Evi2b	T	A	11: 79,516,300	T150S	probably damaging	Het
F13b	A	G	1: 139,503,851	D53G	probably benign	Het
Fbxo38	G	A	18: 62,522,524		probably benign	Het
Flnb	C	T	14: 7,950,470	P2596L	probably damaging	Het
Fyco1	A	G	9: 123,827,182		probably benign	Het
Gm13023	T	C	4: 143,793,932	F85L	probably benign	Het
Gm21759	A	G	5: 8,179,775		probably benign	Het
Gtse1	A	G	15: 85,875,082	N597S	probably benign	Het
Hcn3	G	T	3: 89,147,723	S739Y	probably damaging	Het
Ighv9-4	T	A	12: 114,299,992	N107I	probably damaging	Het
Iqub	T	C	6: 24,446,212	K738E	probably benign	Het
Itga6	A	T	2: 71,825,656	D308V	probably benign	Het
Klf12	T	C	14: 100,023,149	Y48C	probably damaging	Het
Klhdc9	A	G	1: 171,358,816	*351Q	probably null	Het
Krt40	A	T	11: 99,542,868	N97K	probably damaging	Het
Lrit1	A	C	14: 37,060,155	T262P	probably damaging	Het
Mcoln1	T	C	8: 3,510,910	Y411H	probably damaging	Het
Mfsd4a	A	G	1: 132,054,143	S149P	probably benign	Het
Mipep	A	G	14: 60,796,165		probably benign	Het
Mslnl	A	G	17: 25,743,667		probably benign	Het
N4bp2	A	T	5: 65,790,924	H299L	probably damaging	Het
Nbn	C	T	4: 15,965,221	P190S	probably benign	Het
Nos1	T	A	5: 117,945,884	I1253N	probably damaging	Het
Nup210	G	T	6: 91,030,117	F572L	probably damaging	Het
Olfr1381	T	C	11: 49,552,137	L130P	probably damaging	Het
Olfr370	T	C	8: 83,541,618	V158A	probably benign	Het
Olfr390	T	C	11: 73,787,277	F113S	probably damaging	Het
Pcdhb20	C	T	18: 37,504,807	H129Y	possibly damaging	Het
Pdcd6ip	T	C	9: 113,685,422	E240G	probably benign	Het
Pex5l	T	C	3: 33,014,961		probably null	Het
Plcd1	T	C	9: 119,076,178	N181S	probably damaging	Het
Plekhg6	G	T	6: 125,372,099	L412M	probably damaging	Het
Ppp1r13b	T	A	12: 111,835,092	Q386L	possibly damaging	Het
Prpf40b	A	G	15: 99,310,045		probably benign	Het
Rdh11	C	T	12: 79,186,413		probably null	Het
Ripor3	A	T	2: 167,997,252	S110T	probably damaging	Het
Sec24d	G	A	3: 123,294,158		probably null	Het
Secisbp2l	T	C	2: 125,773,211	S165G	probably benign	Het
Shank1	C	T	7: 44,342,465	A698V	unknown	Het
Shank1	T	C	7: 44,351,599	M914T	unknown	Het
Slc22a3	T	C	17: 12,458,492	Q263R	probably benign	Het
Smc1a	C	A	X: 152,036,129	Q647K	probably damaging	Het
Sohlh1	A	G	2: 25,846,861		probably benign	Het
Tacc2	C	A	7: 130,729,768	T484K	probably damaging	Het
Ubr4	G	T	4: 139,440,783	E2825*	probably null	Het
Wbp2nl	G	A	15: 82,308,605	M163I	probably benign	Het
Zfp69	T	A	4: 120,931,500	K206M	probably damaging	Het
Zswim3	G	A	2: 164,821,520	R640H	probably damaging	Het

Other mutations in P4htm

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02205:P4htm	APN	9	108581962	missense	probably benign	0.08
IGL02756:P4htm	APN	9	108579778	missense	probably damaging	1.00
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

2013-12-09