Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02480:P4ha1'

295165

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

P4ha1

Ensembl Gene

ENSMUSG00000019916

Gene Name

procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha 1 polypeptide

Synonyms

P4ha

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02480

Quality Score

Status

Chromosome

Chromosomal Location

59159118-59209126 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 59179574 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 141 (Y141H)

Ref Sequence

ENSEMBL: ENSMUSP00000101106 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000009789] [ENSMUST00000092512] [ENSMUST00000105466]

AlphaFold

Q60715

Predicted Effect

probably damaging
Transcript: ENSMUST00000009789
AA Change: Y141H

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

SMART Domains

Protein: ENSMUSP00000009789
Gene: ENSMUSG00000019916
AA Change: Y141H

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
Pfam:P4Ha_N	23	156	2e-47	PFAM
low complexity region	220	235	N/A	INTRINSIC
P4Hc	335	518	2.2e-74	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000092512
AA Change: Y141H

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000090170
Gene: ENSMUSG00000019916
AA Change: Y141H

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
Pfam:P4Ha_N	23	156	7.4e-48	PFAM
P4Hc	255	438	1.2e-75	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000105466
AA Change: Y141H

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

SMART Domains

Protein: ENSMUSP00000101106
Gene: ENSMUSG00000019916
AA Change: Y141H

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
Pfam:P4Ha_N	24	155	2.1e-42	PFAM
low complexity region	220	235	N/A	INTRINSIC
P4Hc	335	518	1.2e-75	SMART

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. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null mutation display embryonic lethality during organogenesis, capillary ruptures, and impaired basement membrane formation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadac	T	A	3: 59,946,908 (GRCm39)	I202K	probably benign	Het
Abcc1	T	A	16: 14,221,869 (GRCm39)	S169T	possibly damaging	Het
Acsm1	A	T	7: 119,255,265 (GRCm39)	I389F	possibly damaging	Het
Actn2	T	A	13: 12,291,364 (GRCm39)	Q680L	probably benign	Het
Ankrd13d	G	A	19: 4,321,491 (GRCm39)	P404S	possibly damaging	Het
Ankrd46	G	T	15: 36,484,142 (GRCm39)		probably benign	Het
Arfip1	A	G	3: 84,455,239 (GRCm39)		probably null	Het
Asb15	A	T	6: 24,570,745 (GRCm39)	L574F	probably damaging	Het
Cym	T	C	3: 107,120,838 (GRCm39)	I256V	probably benign	Het
Cyp3a44	C	T	5: 145,731,715 (GRCm39)	E144K	possibly damaging	Het
Efna1	T	C	3: 89,179,902 (GRCm39)	E109G	probably benign	Het
Eif4a3l1	A	T	6: 136,306,213 (GRCm39)	I225F	probably damaging	Het
Eml1	C	A	12: 108,487,955 (GRCm39)	Q556K	probably benign	Het
Eml5	T	G	12: 98,842,502 (GRCm39)	T199P	probably damaging	Het
Entr1	T	A	2: 26,275,132 (GRCm39)	H342L	probably damaging	Het
Etl4	A	C	2: 20,793,335 (GRCm39)	M687L	probably damaging	Het
Fam199x	C	A	X: 135,950,788 (GRCm39)	T56K	probably damaging	Het
Fat4	A	G	3: 39,064,579 (GRCm39)	D4845G	probably damaging	Het
Gm4987	T	A	X: 45,544,973 (GRCm39)		noncoding transcript	Het
Gm5828	C	A	1: 16,839,766 (GRCm39)		noncoding transcript	Het
Gm5930	T	C	14: 44,575,087 (GRCm39)	Y68C	probably benign	Het
Gucy1a1	C	T	3: 82,005,040 (GRCm39)	V582M	probably damaging	Het
Haghl	G	T	17: 26,002,033 (GRCm39)	A220E	probably damaging	Het
Hsf5	G	A	11: 87,522,483 (GRCm39)	A359T	possibly damaging	Het
Igsf9	C	A	1: 172,324,480 (GRCm39)	D799E	possibly damaging	Het
Igsf9	A	T	1: 172,312,345 (GRCm39)		probably benign	Het
Itga1	A	T	13: 115,124,184 (GRCm39)	F703I	probably damaging	Het
Kcna6	G	A	6: 126,715,531 (GRCm39)	P453S	probably damaging	Het
Lzic	A	T	4: 149,571,260 (GRCm39)	N15I	probably damaging	Het
Or1j10	T	G	2: 36,267,504 (GRCm39)	C239G	probably damaging	Het
Or2n1d	A	G	17: 38,646,314 (GRCm39)	R89G	probably benign	Het
Or4f54	A	G	2: 111,122,858 (GRCm39)	I82V	possibly damaging	Het
Or5p78	C	T	7: 108,212,018 (GRCm39)	T168I	probably benign	Het
Paxx	G	A	2: 25,350,024 (GRCm39)	P164S	probably damaging	Het
Pgd	A	G	4: 149,241,075 (GRCm39)	V278A	probably damaging	Het
Pik3c2g	A	G	6: 139,798,526 (GRCm39)	Y352C	probably damaging	Het
Pkd2l2	A	G	18: 34,571,843 (GRCm39)	N614S	possibly damaging	Het
Poli	T	C	18: 70,658,477 (GRCm39)	T86A	probably benign	Het
Psd2	G	A	18: 36,139,136 (GRCm39)	R528H	probably damaging	Het
Ptchd4	G	T	17: 42,813,431 (GRCm39)	C444F	probably benign	Het
Ptpra	C	A	2: 130,346,181 (GRCm39)	T114K	probably benign	Het
Rho	A	G	6: 115,912,505 (GRCm39)	N123S	probably benign	Het
Setd5	A	G	6: 113,120,770 (GRCm39)	D993G	probably damaging	Het
Slc1a2	T	C	2: 102,566,411 (GRCm39)	L38P	probably damaging	Het
Slc2a7	G	A	4: 150,244,569 (GRCm39)	V346M	possibly damaging	Het
Slc43a1	A	G	2: 84,669,928 (GRCm39)	I7V	probably benign	Het
Spag9	C	T	11: 93,999,413 (GRCm39)	Q691*	probably null	Het
Timmdc1	A	T	16: 38,342,763 (GRCm39)	V45D	probably null	Het
Tlr8	T	A	X: 166,027,179 (GRCm39)	H557L	probably damaging	Het

Other mutations in P4ha1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01068:P4ha1	APN	10	59,175,157 (GRCm39)	missense	probably damaging	1.00
IGL01820:P4ha1	APN	10	59,197,736 (GRCm39)	missense	probably damaging	1.00
IGL02340:P4ha1	APN	10	59,188,023 (GRCm39)	missense	probably benign	0.03
IGL02496:P4ha1	APN	10	59,206,824 (GRCm39)	critical splice acceptor site	probably null
PIT4453001:P4ha1	UTSW	10	59,186,294 (GRCm39)	missense	probably benign
R0149:P4ha1	UTSW	10	59,184,221 (GRCm39)	missense	probably damaging	1.00
R0265:P4ha1	UTSW	10	59,184,081 (GRCm39)	missense	probably damaging	1.00
R0282:P4ha1	UTSW	10	59,172,970 (GRCm39)	missense	probably damaging	1.00
R0432:P4ha1	UTSW	10	59,184,079 (GRCm39)	nonsense	probably null
R0683:P4ha1	UTSW	10	59,172,969 (GRCm39)	missense	probably benign	0.05
R1929:P4ha1	UTSW	10	59,206,859 (GRCm39)	missense	probably damaging	1.00
R5790:P4ha1	UTSW	10	59,190,184 (GRCm39)	missense	probably benign	0.07
R5858:P4ha1	UTSW	10	59,175,200 (GRCm39)	missense	probably damaging	1.00
R5955:P4ha1	UTSW	10	59,178,618 (GRCm39)	missense	probably benign	0.00
R6123:P4ha1	UTSW	10	59,186,349 (GRCm39)	missense	possibly damaging	0.80
R7237:P4ha1	UTSW	10	59,184,065 (GRCm39)	missense	probably benign
R7350:P4ha1	UTSW	10	59,186,240 (GRCm39)	missense	probably damaging	0.97
R7380:P4ha1	UTSW	10	59,186,273 (GRCm39)	missense	probably benign	0.28
R7583:P4ha1	UTSW	10	59,205,462 (GRCm39)	missense	probably benign	0.03
R8356:P4ha1	UTSW	10	59,191,185 (GRCm39)	missense	probably damaging	1.00
R8843:P4ha1	UTSW	10	59,205,455 (GRCm39)	missense	probably damaging	1.00
R8932:P4ha1	UTSW	10	59,175,130 (GRCm39)	missense	possibly damaging	0.95
R9081:P4ha1	UTSW	10	59,184,185 (GRCm39)	missense	probably damaging	1.00
R9153:P4ha1	UTSW	10	59,203,112 (GRCm39)	missense	probably damaging	0.98
X0062:P4ha1	UTSW	10	59,184,068 (GRCm39)	missense	possibly damaging	0.80

Posted On

2015-04-16