Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02543:P3h1'

298317

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

P3h1

Ensembl Gene

ENSMUSG00000028641

Gene Name

prolyl 3-hydroxylase 1

Synonyms

Lepre1, Gros1, 2410024C15Rik

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02543

Quality Score

Status

Chromosome

Chromosomal Location

119232915-119248975 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 119237856 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000119695 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030393] [ENSMUST00000081606] [ENSMUST00000102662] [ENSMUST00000121111] [ENSMUST00000136278]

AlphaFold

Q3V1T4

Predicted Effect

probably benign
Transcript: ENSMUST00000030393

SMART Domains

Protein: ENSMUSP00000030393
Gene: ENSMUSG00000028641

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
low complexity region	60	84	N/A	INTRINSIC
low complexity region	117	127	N/A	INTRINSIC
internal_repeat_1	136	213	2.49e-12	PROSPERO
internal_repeat_1	294	369	2.49e-12	PROSPERO
Blast:P4Hc	419	462	2e-14	BLAST
P4Hc	479	687	5.96e-53	SMART
low complexity region	714	725	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000081606

SMART Domains

Protein: ENSMUSP00000080312
Gene: ENSMUSG00000028641

Domain	Start	End	E-Value	Type
SCOP:d1hxia_	80	195	4e-5	SMART
Blast:P4Hc	125	206	2e-11	BLAST
Blast:P4Hc	233	276	1e-14	BLAST
P4Hc	293	501	5.96e-53	SMART
low complexity region	528	539	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000102662

SMART Domains

Protein: ENSMUSP00000099723
Gene: ENSMUSG00000028641

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
low complexity region	60	84	N/A	INTRINSIC
low complexity region	117	127	N/A	INTRINSIC
internal_repeat_1	136	213	1.9e-12	PROSPERO
internal_repeat_1	294	369	1.9e-12	PROSPERO
Blast:P4Hc	412	455	2e-14	BLAST
P4Hc	472	680	5.96e-53	SMART
low complexity region	707	718	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000121111

SMART Domains

Protein: ENSMUSP00000112504
Gene: ENSMUSG00000028641

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
low complexity region	60	84	N/A	INTRINSIC
low complexity region	117	127	N/A	INTRINSIC
internal_repeat_1	136	213	2.32e-12	PROSPERO
internal_repeat_1	294	369	2.32e-12	PROSPERO
Blast:P4Hc	412	455	2e-14	BLAST
P4Hc	472	680	5.96e-53	SMART
low complexity region	707	718	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123963

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126056

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131875

Predicted Effect

probably benign
Transcript: ENSMUST00000136278

SMART Domains

Protein: ENSMUSP00000119695
Gene: ENSMUSG00000028641

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
low complexity region	60	84	N/A	INTRINSIC
low complexity region	117	127	N/A	INTRINSIC
internal_repeat_1	136	198	6.76e-13	PROSPERO
internal_repeat_1	294	356	6.76e-13	PROSPERO

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153940

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an enzyme that is a member of the collagen prolyl hydroxylase family. These enzymes are localized to the endoplasmic reticulum and their activity is required for proper collagen synthesis and assembly. Mutations in this gene are associated with osteogenesis imperfecta type VIII. Three alternatively spliced transcript variants encoding different isoforms have been described. Other variants may exist, but their biological validity has not been determined. [provided by RefSeq, Aug 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced size, disproportional reduction in long bone length, decreased bone density, decreased bone mineral density, reduced body fat, delayed ossification, and abnormal collagen networks in the skin and tendons. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1cf	G	T	19: 31,918,095	A193S	probably damaging	Het
Adcy4	T	C	14: 55,769,170	T1069A	probably benign	Het
Arg2	A	T	12: 79,150,759	I184F	probably benign	Het
Asb18	G	A	1: 90,014,391	P63S	probably damaging	Het
Cd163l1	A	G	7: 140,220,578	M91V	probably benign	Het
Cep85	T	C	4: 134,156,323	H85R	possibly damaging	Het
Chfr	A	G	5: 110,143,547		probably null	Het
Cog2	A	G	8: 124,529,959	N148S	probably benign	Het
Csgalnact1	T	C	8: 68,461,068	T162A	probably damaging	Het
Ddi1	C	T	9: 6,266,183	G62D	possibly damaging	Het
Dhx33	T	C	11: 70,987,240	Y435C	probably damaging	Het
Dsc3	A	T	18: 19,965,828	C765S	probably benign	Het
Egfem1	T	A	3: 29,668,380	D362E	probably benign	Het
Gm10093	A	G	17: 78,491,874	E98G	probably damaging	Het
Gm28040	A	T	1: 133,319,331	I26F	possibly damaging	Het
Gm28778	T	C	1: 53,299,043	M22T	probably benign	Het
Hipk2	A	G	6: 38,703,501	I968T	possibly damaging	Het
Hlx	T	G	1: 184,730,751	S235R	probably damaging	Het
Jag1	T	C	2: 137,091,947		probably benign	Het
Kdr	A	G	5: 75,964,947		probably benign	Het
Klhl3	T	C	13: 58,018,871	E435G	probably damaging	Het
L3mbtl4	T	C	17: 68,461,612		probably benign	Het
Large1	T	A	8: 73,048,414	M223L	probably benign	Het
Lrp1b	T	C	2: 40,870,401	K2838E	possibly damaging	Het
Ncan	T	C	8: 70,108,571	D582G	probably benign	Het
Nedd9	T	C	13: 41,316,735	D314G	probably damaging	Het
Nip7	T	C	8: 107,058,193		probably benign	Het
Olfr1408	T	G	1: 173,130,334	K294N	probably damaging	Het
Olfr629	A	T	7: 103,740,503	C246S	possibly damaging	Het
Olfr8	C	A	10: 78,955,939	H245N	probably damaging	Het
Pcp4l1	C	T	1: 171,175,564		probably benign	Het
Plekhm2	C	T	4: 141,642,019	G118D	probably benign	Het
Prkg1	T	C	19: 30,624,734	D374G	possibly damaging	Het
Ptcd1	A	G	5: 145,154,687	L534P	possibly damaging	Het
Rnf123	A	G	9: 108,066,348	S563P	probably damaging	Het
Sdk2	A	T	11: 113,868,921	I418N	possibly damaging	Het
Slc26a4	A	G	12: 31,528,689	I655T	possibly damaging	Het
Syne1	T	C	10: 5,043,618	K524R	probably damaging	Het
Tanc1	G	T	2: 59,833,258	G1120C	probably damaging	Het
Tbc1d22a	C	T	15: 86,239,171	A135V	probably benign	Het
Tenm3	A	C	8: 48,298,956	W942G	probably damaging	Het
Thsd7b	G	A	1: 130,165,103	V1247I	probably benign	Het
Treml1	A	G	17: 48,360,431	T115A	possibly damaging	Het
Ttn	T	C	2: 76,709,962	T34227A	probably benign	Het
Ugt2b38	T	A	5: 87,423,483	D230V	probably benign	Het
Vmn1r203	G	A	13: 22,524,904	G285D	probably damaging	Het
Vmn2r76	A	G	7: 86,230,148	S315P	probably benign	Het
Vmn2r98	T	G	17: 19,065,821	S194A	probably benign	Het
Wdr1	G	A	5: 38,545,822	S137F	probably damaging	Het
Wnt7b	C	T	15: 85,558,896		probably benign	Het
Zfp668	A	T	7: 127,868,322	C27*	probably null	Het

Other mutations in P3h1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01622:P3h1	APN	4	119235283	missense	probably damaging	1.00
IGL01623:P3h1	APN	4	119235283	missense	probably damaging	1.00
IGL01645:P3h1	APN	4	119236783	missense	probably damaging	1.00
IGL02140:P3h1	APN	4	119237865	missense	probably damaging	1.00
IGL02415:P3h1	APN	4	119247955	missense	probably benign
IGL02870:P3h1	APN	4	119247571	missense	probably damaging	1.00
IGL02972:P3h1	APN	4	119247960	missense	possibly damaging	0.75
IGL03067:P3h1	APN	4	119235280	missense	probably damaging	0.99
IGL03077:P3h1	APN	4	119236786	missense	probably damaging	1.00
woohoo	UTSW	4	119241132	nonsense	probably null
R0194:P3h1	UTSW	4	119237952	missense	probably damaging	1.00
R0523:P3h1	UTSW	4	119241530	missense	probably benign	0.32
R0734:P3h1	UTSW	4	119238688	missense	probably damaging	1.00
R0944:P3h1	UTSW	4	119238759	missense	probably benign	0.00
R1018:P3h1	UTSW	4	119237907	missense	probably damaging	0.99
R1978:P3h1	UTSW	4	119247976	missense	probably null	0.00
R2697:P3h1	UTSW	4	119247180	missense	probably damaging	1.00
R5668:P3h1	UTSW	4	119244046	missense	possibly damaging	0.89
R5750:P3h1	UTSW	4	119238666	missense	probably damaging	0.96
R5965:P3h1	UTSW	4	119248227	missense	probably benign	0.00
R5987:P3h1	UTSW	4	119246665	missense	probably damaging	1.00
R6111:P3h1	UTSW	4	119241132	nonsense	probably null
R6786:P3h1	UTSW	4	119237954	missense	possibly damaging	0.65
R7142:P3h1	UTSW	4	119247161	missense	probably benign	0.00
R8068:P3h1	UTSW	4	119236862	missense	probably damaging	1.00
R8304:P3h1	UTSW	4	119247205	missense	probably damaging	1.00
R9502:P3h1	UTSW	4	119236811	missense	possibly damaging	0.86
R9680:P3h1	UTSW	4	119233231	missense	probably benign	0.17

Posted On

2015-04-16