Mutagenetix > Incidental Mutation

Incidental Mutation 'R1118:P4ha3'

97556

Institutional Source

Beutler Lab

Gene Symbol

P4ha3

Ensembl Gene

ENSMUSG00000051048

Gene Name

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

Synonyms

D930031A02Rik

MMRRC Submission

039191-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R1118 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

99934727-99968906 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 99962535 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 431 (I431T)

Ref Sequence

ENSEMBL: ENSMUSP00000055297 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000057023
AA Change: I431T

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000055297
Gene: ENSMUSG00000051048
AA Change: I431T

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

unknown
Transcript: ENSMUST00000138465
AA Change: I297T

SMART Domains

Protein: ENSMUSP00000119159
Gene: ENSMUSG00000051048
AA Change: I297T

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

Meta Mutation Damage Score

0.2220

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.7%
20x: 94.3%

Validation Efficiency

98% (60/61)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apcdd1	A	G	18: 63,085,095 (GRCm39)	T431A	probably benign	Het
Bcan	T	A	3: 87,896,534 (GRCm39)	I721F	probably damaging	Het
Card10	T	C	15: 78,686,643 (GRCm39)	D58G	possibly damaging	Het
Cd200r2	A	G	16: 44,729,969 (GRCm39)	N171S	probably damaging	Het
Celsr1	T	C	15: 85,916,248 (GRCm39)	D575G	probably damaging	Het
Ces1f	A	G	8: 93,993,870 (GRCm39)		probably benign	Het
Cped1	A	T	6: 22,237,698 (GRCm39)	H938L	probably benign	Het
Creld1	A	G	6: 113,468,656 (GRCm39)	D259G	probably benign	Het
Cubn	T	C	2: 13,341,053 (GRCm39)	I2223V	possibly damaging	Het
Dop1a	A	G	9: 86,397,459 (GRCm39)	D921G	probably damaging	Het
Dusp7	T	C	9: 106,250,849 (GRCm39)	S325P	possibly damaging	Het
Fat4	A	T	3: 39,037,091 (GRCm39)	D3581V	possibly damaging	Het
Fhl3	T	C	4: 124,599,584 (GRCm39)		probably null	Het
Gap43	T	C	16: 42,112,167 (GRCm39)	E198G	probably benign	Het
Garin4	G	A	1: 190,896,682 (GRCm39)		probably benign	Het
Grina	T	C	15: 76,132,779 (GRCm39)	F182S	probably damaging	Het
Gsk3b	T	C	16: 38,028,346 (GRCm39)		probably benign	Het
Gtf3c3	C	T	1: 54,456,937 (GRCm39)	A488T	probably damaging	Het
Haus6	A	G	4: 86,503,563 (GRCm39)		probably null	Het
Hmcn1	C	T	1: 150,494,679 (GRCm39)	A4137T	possibly damaging	Het
Itih4	C	A	14: 30,618,124 (GRCm39)		probably benign	Het
Itprid1	T	C	6: 55,866,155 (GRCm39)	F183L	probably damaging	Het
Kif22	A	G	7: 126,631,916 (GRCm39)	S384P	probably benign	Het
Lbr	A	C	1: 181,648,233 (GRCm39)		probably benign	Het
Mei1	G	A	15: 82,000,068 (GRCm39)		probably benign	Het
Misp	T	C	10: 79,662,969 (GRCm39)	V462A	probably benign	Het
Mrgpra3	A	C	7: 47,239,039 (GRCm39)	L296V	possibly damaging	Het
Ndufa9	A	T	6: 126,799,031 (GRCm39)	L362Q	probably damaging	Het
Nlrp9c	A	T	7: 26,083,862 (GRCm39)	D572E	probably benign	Het
Or4f14	T	A	2: 111,743,222 (GRCm39)	T18S	probably benign	Het
Otud4	C	T	8: 80,379,980 (GRCm39)		probably benign	Het
Pcdhb15	T	A	18: 37,606,815 (GRCm39)	F16I	probably benign	Het
Pcnp	A	G	16: 55,844,754 (GRCm39)	S49P	probably damaging	Het
Pdxdc1	T	A	16: 13,697,278 (GRCm39)		probably benign	Het
Pgc	T	A	17: 48,039,828 (GRCm39)		probably null	Het
Phf11a	T	C	14: 59,521,778 (GRCm39)	D131G	probably benign	Het
Prdm2	G	A	4: 142,858,953 (GRCm39)	H1446Y	possibly damaging	Het
Rad54b	T	C	4: 11,563,352 (GRCm39)	S4P	probably damaging	Het
Slc52a2	T	C	15: 76,423,808 (GRCm39)		probably benign	Het
Slc9a4	G	A	1: 40,623,490 (GRCm39)		probably benign	Het
Smad4	T	C	18: 73,773,333 (GRCm39)	D551G	probably benign	Het
Smg7	A	T	1: 152,742,326 (GRCm39)		probably benign	Het
Sned1	G	A	1: 93,209,376 (GRCm39)	V830M	possibly damaging	Het
Sspo	A	G	6: 48,436,352 (GRCm39)	Y1234C	probably damaging	Het
Stab2	A	T	10: 86,721,582 (GRCm39)		probably null	Het
Stk36	A	G	1: 74,671,925 (GRCm39)	E875G	probably benign	Het
Stmn4	T	G	14: 66,591,844 (GRCm39)		probably benign	Het
Tagln3	C	A	16: 45,544,635 (GRCm39)	R12L	probably damaging	Het
Tex14	A	T	11: 87,413,343 (GRCm39)	R1031S	probably benign	Het
Tia1	G	A	6: 86,396,091 (GRCm39)	V96I	probably benign	Het
Ticrr	C	T	7: 79,343,701 (GRCm39)	P1189S	probably benign	Het
Tnxb	G	A	17: 34,904,017 (GRCm39)	V1053M	probably damaging	Het
Tpp2	T	C	1: 44,031,556 (GRCm39)		probably null	Het
Trpm7	A	G	2: 126,664,406 (GRCm39)	M991T	possibly damaging	Het
Ttc3	T	A	16: 94,217,127 (GRCm39)		probably benign	Het
Vcan	G	A	13: 89,853,782 (GRCm39)	P393S	probably damaging	Het
Vmn2r107	G	A	17: 20,576,860 (GRCm39)	R286Q	probably benign	Het
Wdr87-ps	G	A	7: 29,233,669 (GRCm39)		noncoding transcript	Het
Wrap73	A	T	4: 154,236,884 (GRCm39)		probably null	Het
Zfp958	A	T	8: 4,676,169 (GRCm39)	N46Y	possibly damaging	Het

Other mutations in P4ha3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01347:P4ha3	APN	7	99,955,140 (GRCm39)	missense	probably damaging	1.00
IGL01875:P4ha3	APN	7	99,949,859 (GRCm39)	missense	probably damaging	0.97
IGL02265:P4ha3	APN	7	99,943,139 (GRCm39)	missense	probably benign
IGL02957:P4ha3	APN	7	99,968,112 (GRCm39)	splice site	probably benign
IGL03279:P4ha3	APN	7	99,949,893 (GRCm39)	missense	probably damaging	1.00
R0006:P4ha3	UTSW	7	99,968,155 (GRCm39)	nonsense	probably null
R0880:P4ha3	UTSW	7	99,955,116 (GRCm39)	missense	probably benign	0.06
R1066:P4ha3	UTSW	7	99,967,270 (GRCm39)	missense	possibly damaging	0.77
R1119:P4ha3	UTSW	7	99,962,535 (GRCm39)	missense	probably damaging	0.99
R1236:P4ha3	UTSW	7	99,943,056 (GRCm39)	missense	probably damaging	1.00
R1613:P4ha3	UTSW	7	99,962,457 (GRCm39)	missense	possibly damaging	0.95
R1778:P4ha3	UTSW	7	99,949,898 (GRCm39)	splice site	probably null
R2042:P4ha3	UTSW	7	99,949,897 (GRCm39)	critical splice donor site	probably null
R3437:P4ha3	UTSW	7	99,934,831 (GRCm39)	missense	possibly damaging	0.93
R4393:P4ha3	UTSW	7	99,954,814 (GRCm39)	missense	probably benign	0.06
R5411:P4ha3	UTSW	7	99,943,022 (GRCm39)	missense	probably damaging	1.00
R5722:P4ha3	UTSW	7	99,955,198 (GRCm39)	missense	probably benign	0.03
R6209:P4ha3	UTSW	7	99,966,292 (GRCm39)	missense	probably benign	0.09
R6462:P4ha3	UTSW	7	99,963,873 (GRCm39)	missense	probably damaging	1.00
R6606:P4ha3	UTSW	7	99,954,851 (GRCm39)	missense	probably damaging	0.99
R7578:P4ha3	UTSW	7	99,943,121 (GRCm39)	missense	probably benign	0.02
R7769:P4ha3	UTSW	7	99,934,924 (GRCm39)	missense	probably damaging	0.97
R8031:P4ha3	UTSW	7	99,941,905 (GRCm39)	missense	probably damaging	1.00
R8090:P4ha3	UTSW	7	99,949,859 (GRCm39)	missense	probably damaging	0.97
R8296:P4ha3	UTSW	7	99,966,309 (GRCm39)	missense	probably damaging	1.00
R8379:P4ha3	UTSW	7	99,942,986 (GRCm39)	missense	probably damaging	0.99
R8501:P4ha3	UTSW	7	99,962,562 (GRCm39)	missense	probably damaging	1.00
R8516:P4ha3	UTSW	7	99,963,869 (GRCm39)	missense	probably damaging	0.97
R8692:P4ha3	UTSW	7	99,955,228 (GRCm39)	missense	probably damaging	0.99
RF033:P4ha3	UTSW	7	99,960,017 (GRCm39)	frame shift	probably null
Z1177:P4ha3	UTSW	7	99,942,995 (GRCm39)	missense	probably benign	0.25

Predicted Primers

PCR Primer
(F):5'- TTCGCCTGCTCAGCTCAGCATAAC -3'
(R):5'- AGAATCAGTGGAGCCAAGGCTGTC -3'

Sequencing Primer
(F):5'- tcattcatttcttcattcactcatcc -3'
(R):5'- AGCCAAGGCTGTCAGATAATC -3'

Posted On

2014-01-05