Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01622:P3h1'

278628

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

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01622

Quality Score

Status

Chromosome

Chromosomal Location

119232915-119248975 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 119235283 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 171 (T171I)

Ref Sequence

ENSEMBL: ENSMUSP00000119695 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030393] [ENSMUST00000081606] [ENSMUST00000102662] [ENSMUST00000121111] [ENSMUST00000136278] [ENSMUST00000141112]

AlphaFold

Q3V1T4

Predicted Effect

probably damaging
Transcript: ENSMUST00000030393
AA Change: T171I

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

SMART Domains

Protein: ENSMUSP00000030393
Gene: ENSMUSG00000028641
AA Change: T171I

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

noncoding transcript
Transcript: ENSMUST00000046260

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 damaging
Transcript: ENSMUST00000102662
AA Change: T171I

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

SMART Domains

Protein: ENSMUSP00000099723
Gene: ENSMUSG00000028641
AA Change: T171I

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 damaging
Transcript: ENSMUST00000121111
AA Change: T171I

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

SMART Domains

Protein: ENSMUSP00000112504
Gene: ENSMUSG00000028641
AA Change: T171I

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

noncoding transcript
Transcript: ENSMUST00000132778

Predicted Effect

probably damaging
Transcript: ENSMUST00000136278
AA Change: T171I

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

SMART Domains

Protein: ENSMUSP00000119695
Gene: ENSMUSG00000028641
AA Change: T171I

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

probably benign
Transcript: ENSMUST00000141112

SMART Domains

Protein: ENSMUSP00000115729
Gene: ENSMUSG00000078584

Domain	Start	End	E-Value	Type
Pfam:DUF2452	27	182	2.2e-78	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144309

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930596D02Rik	G	A	14: 35,810,067	Q184*	probably null	Het
A1bg	A	C	15: 60,917,893	I502S	possibly damaging	Het
Actl11	T	C	9: 107,928,576	S33P	probably benign	Het
Aftph	G	T	11: 20,709,632	D730E	probably damaging	Het
Arhgap29	A	G	3: 121,974,124		probably benign	Het
Brf1	T	G	12: 112,961,175	E643A	probably benign	Het
Caskin1	G	T	17: 24,503,940		probably null	Het
Ccnjl	T	C	11: 43,585,327	V259A	probably benign	Het
Ccser2	G	T	14: 36,940,963	T88K	probably benign	Het
Cdk17	T	C	10: 93,238,962		probably benign	Het
Clec16a	G	A	16: 10,577,910	S309N	possibly damaging	Het
Cpxm1	C	A	2: 130,391,271	A633S	probably benign	Het
Ctnnbl1	A	T	2: 157,819,548	N326I	probably damaging	Het
Cyp46a1	T	C	12: 108,351,975	V215A	possibly damaging	Het
Daxx	A	G	17: 33,913,480	D528G	probably benign	Het
Dnah6	T	C	6: 73,144,718	Y1427C	probably damaging	Het
Dpy19l3	G	A	7: 35,722,744	T228I	probably damaging	Het
Fam131c	C	T	4: 141,382,450	A131V	possibly damaging	Het
Fam71e2	A	G	7: 4,758,723	V330A	probably benign	Het
Fat1	A	G	8: 45,029,555	T3061A	possibly damaging	Het
Fgl2	T	A	5: 21,373,177	L154H	possibly damaging	Het
Fhod3	T	A	18: 25,022,867	I514K	probably benign	Het
Ficd	G	A	5: 113,738,561	G266S	probably damaging	Het
Frem3	A	G	8: 80,613,915	T946A	probably benign	Het
Gan	T	A	8: 117,187,178	V105D	probably damaging	Het
Gramd1c	A	G	16: 43,990,698	V221A	probably damaging	Het
Hacd1	A	G	2: 14,035,856	V196A	probably benign	Het
Kcna6	C	A	6: 126,738,613	V438L	probably damaging	Het
Kif14	T	C	1: 136,497,356		probably benign	Het
Klhl41	T	C	2: 69,678,238	V512A	probably benign	Het
Lrfn1	A	G	7: 28,466,686	T502A	probably damaging	Het
Notch3	A	T	17: 32,158,870	F105I	possibly damaging	Het
Olfr1023	A	T	2: 85,886,962	H54L	probably benign	Het
Olfr142	T	G	2: 90,252,609	K126N	probably damaging	Het
Pcdhb1	A	G	18: 37,266,313	E439G	possibly damaging	Het
Pik3c3	A	T	18: 30,290,525	K225*	probably null	Het
Pik3c3	A	G	18: 30,293,049		probably benign	Het
Pik3r5	T	A	11: 68,486,626		probably null	Het
Pnpt1	A	C	11: 29,148,272		probably benign	Het
Ppp2r1b	T	A	9: 50,878,122	V495D	probably damaging	Het
Rbfox3	C	A	11: 118,505,614		probably benign	Het
Sec14l2	G	A	11: 4,103,966	P234S	possibly damaging	Het
Sec16a	A	C	2: 26,438,903	D1033E	probably benign	Het
Sept14	A	G	5: 129,685,955	V357A	probably damaging	Het
Sf3a3	C	T	4: 124,718,343	T131I	possibly damaging	Het
Snrpa	A	T	7: 27,192,970	M55K	probably benign	Het
Swt1	G	T	1: 151,411,009	T244N	probably benign	Het
Tbl1xr1	A	G	3: 22,192,074	T253A	probably benign	Het
Tst	G	T	15: 78,399,764	R288S	probably benign	Het
Vmn2r60	A	G	7: 42,136,486	I238V	probably benign	Het
Zbtb14	A	G	17: 69,388,189	K294R	probably benign	Het
Zfp710	T	A	7: 80,081,123	V16E	probably damaging	Het
Zfpm2	A	G	15: 41,101,924	T602A	probably benign	Het
Zfr2	G	A	10: 81,251,359	M850I	probably benign	Het

Other mutations in P3h1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
IGL02543:P3h1	APN	4	119237856	splice site	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