Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02957:P4ha3'

365198

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

P4ha3

Ensembl Gene

ENSMUSG00000051048

Gene Name

procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide III

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

IGL02957

Quality Score

Status

Chromosome

Chromosomal Location

100285520-100319699 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 100318905 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000117015 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057023] [ENSMUST00000139790]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000057023

SMART Domains

Protein: ENSMUSP00000055297
Gene: ENSMUSG00000051048

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Pfam:P4Ha_N	31	159	1.4e-31	PFAM
SCOP:d1ihga1	177	258	8e-4	SMART
P4Hc	344	526	1.08e-50	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000138465

SMART Domains

Protein: ENSMUSP00000119159
Gene: ENSMUSG00000051048

Domain	Start	End	E-Value	Type
PDB:4BTB\|A	1	141	7e-17	PDB
SCOP:d1ihga1	44	125	4e-4	SMART
P4Hc	211	372	4.89e-40	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000139790

SMART Domains

Protein: ENSMUSP00000117015
Gene: ENSMUSG00000051048

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
low complexity region	43	55	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208565

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 a component of prolyl 4-hydroxylase, a key enzyme in collagen synthesis composed of two identical alpha subunits and two beta subunits. The encoded protein is one of several different types of alpha subunits and provides the major part of the catalytic site of the active enzyme. In collagen and related proteins, prolyl 4-hydroxylase catalyzes the formation of 4-hydroxyproline that is essential to the proper three-dimensional folding of newly synthesized procollagen chains. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630095E13Rik	G	T	9: 36,637,850	T38K	probably benign	Het
Abi2	A	G	1: 60,470,786	D262G	probably damaging	Het
Ahcyl1	G	T	3: 107,667,642	Q462K	probably damaging	Het
Btbd11	T	A	10: 85,633,837	M405K	probably damaging	Het
Btbd11	C	T	10: 85,631,286		probably benign	Het
C8b	A	G	4: 104,766,455	T20A	probably benign	Het
Casd1	T	A	6: 4,634,068	Y594N	possibly damaging	Het
Crtc2	C	T	3: 90,262,533	P412L	probably damaging	Het
Cyp3a44	T	A	5: 145,779,662	R373*	probably null	Het
Dnah10	A	G	5: 124,763,133	D1277G	probably benign	Het
Dnah2	A	T	11: 69,448,507	V3058E	possibly damaging	Het
Eif3l	T	C	15: 79,089,828	L481P	probably benign	Het
Fbxw7	A	T	3: 84,976,237	T573S	probably benign	Het
Fcgbp	C	A	7: 28,091,847	Y844*	probably null	Het
Fcrls	C	A	3: 87,262,194	V13F	possibly damaging	Het
Gbx2	T	G	1: 89,930,653	S35R	probably benign	Het
Gm10767	A	T	13: 66,908,213		probably benign	Het
H2-M9	A	G	17: 36,642,157	L86S	probably benign	Het
Hebp1	C	T	6: 135,137,992	G157D	probably benign	Het
Igf2bp3	C	A	6: 49,087,404	V560L	probably benign	Het
Igsf10	A	G	3: 59,330,864	I632T	probably damaging	Het
Kcnab2	A	T	4: 152,435,869	S5T	possibly damaging	Het
Kcnh5	T	C	12: 75,007,665	S502G	probably benign	Het
Lpcat2	T	A	8: 92,875,584	Y224*	probably null	Het
Mcrip2	A	G	17: 25,868,525	V24A	probably damaging	Het
Mttp	T	C	3: 138,109,081	K493E	possibly damaging	Het
Myl7	A	G	11: 5,897,137	S139P	possibly damaging	Het
Npepps	C	T	11: 97,242,652	R268H	probably damaging	Het
Oas1c	C	T	5: 120,805,413	W18*	probably null	Het
Olfr1328	G	T	4: 118,934,119	T241N	probably damaging	Het
Pkd1l2	G	A	8: 117,065,745	T436I	probably benign	Het
Pkhd1l1	T	A	15: 44,512,908	W989R	probably damaging	Het
Podxl	A	G	6: 31,528,449		probably benign	Het
Pot1b	T	C	17: 55,700,009	Y36C	probably damaging	Het
Ppme1	A	T	7: 100,338,440	I103K	possibly damaging	Het
Ppp1r12a	T	C	10: 108,198,918	I108T	probably damaging	Het
Pramel1	A	G	4: 143,397,598	H281R	probably benign	Het
Prep	T	C	10: 45,126,030	V427A	probably benign	Het
Prkce	A	G	17: 86,496,026	D451G	possibly damaging	Het
Prrc2c	A	G	1: 162,706,535		probably benign	Het
Rrm2	A	G	12: 24,708,441	N32S	probably damaging	Het
Sema6a	A	G	18: 47,249,224	L752P	probably damaging	Het
Sik3	T	A	9: 46,195,845	I429N	possibly damaging	Het
Slc22a29	A	G	19: 8,169,990	L336P	probably benign	Het
Stk32a	A	T	18: 43,311,992	M284L	probably benign	Het
Syde2	T	C	3: 145,989,179		probably benign	Het
Tcta	G	A	9: 108,305,332	S91F	possibly damaging	Het
Traf3ip2	A	T	10: 39,654,410	T517S	probably damaging	Het
Trpv3	A	G	11: 73,285,872	Y359C	probably damaging	Het
Vmn1r66	A	G	7: 10,274,810	S99P	probably damaging	Het
Vmn2r8	G	A	5: 108,802,225	T252M	probably benign	Het
Wdr27	A	T	17: 14,910,110		probably benign	Het
Yipf1	A	G	4: 107,336,150	T78A	probably damaging	Het
Zfp735	A	T	11: 73,710,929	Y233F	probably benign	Het

Other mutations in P4ha3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01347:P4ha3	APN	7	100305933	missense	probably damaging	1.00
IGL01875:P4ha3	APN	7	100300652	missense	probably damaging	0.97
IGL02265:P4ha3	APN	7	100293932	missense	probably benign
IGL03279:P4ha3	APN	7	100300686	missense	probably damaging	1.00
R0006:P4ha3	UTSW	7	100318948	nonsense	probably null
R0880:P4ha3	UTSW	7	100305909	missense	probably benign	0.06
R1066:P4ha3	UTSW	7	100318063	missense	possibly damaging	0.77
R1118:P4ha3	UTSW	7	100313328	missense	probably damaging	0.99
R1119:P4ha3	UTSW	7	100313328	missense	probably damaging	0.99
R1236:P4ha3	UTSW	7	100293849	missense	probably damaging	1.00
R1613:P4ha3	UTSW	7	100313250	missense	possibly damaging	0.95
R1778:P4ha3	UTSW	7	100300691	splice site	probably null
R2042:P4ha3	UTSW	7	100300690	critical splice donor site	probably null
R3437:P4ha3	UTSW	7	100285624	missense	possibly damaging	0.93
R4393:P4ha3	UTSW	7	100305607	missense	probably benign	0.06
R5411:P4ha3	UTSW	7	100293815	missense	probably damaging	1.00
R5722:P4ha3	UTSW	7	100305991	missense	probably benign	0.03
R6209:P4ha3	UTSW	7	100317085	missense	probably benign	0.09
R6462:P4ha3	UTSW	7	100314666	missense	probably damaging	1.00
R6606:P4ha3	UTSW	7	100305644	missense	probably damaging	0.99
R7578:P4ha3	UTSW	7	100293914	missense	probably benign	0.02
R7769:P4ha3	UTSW	7	100285717	missense	probably damaging	0.97
R8031:P4ha3	UTSW	7	100292698	missense	probably damaging	1.00
R8090:P4ha3	UTSW	7	100300652	missense	probably damaging	0.97
R8296:P4ha3	UTSW	7	100317102	missense	probably damaging	1.00
R8379:P4ha3	UTSW	7	100293779	missense	probably damaging	0.99
R8501:P4ha3	UTSW	7	100313355	missense	probably damaging	1.00
R8516:P4ha3	UTSW	7	100314662	missense	probably damaging	0.97
R8692:P4ha3	UTSW	7	100306021	missense	probably damaging	0.99
RF033:P4ha3	UTSW	7	100310810	frame shift	probably null
Z1177:P4ha3	UTSW	7	100293788	missense	probably benign	0.25

Posted On

2015-12-18