Incidental Mutation 'IGL01068:P4ha1'
ID 52045
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 # IGL01068
Quality Score
Status
Chromosome 10
Chromosomal Location 59323296-59373304 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 59339335 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 39 (V39A)
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: V39A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000009789
Gene: ENSMUSG00000019916
AA Change: V39A

DomainStartEndE-ValueType
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 possibly damaging
Transcript: ENSMUST00000092512
AA Change: V39A

PolyPhen 2 Score 0.495 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000090170
Gene: ENSMUSG00000019916
AA Change: V39A

DomainStartEndE-ValueType
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: V39A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101106
Gene: ENSMUSG00000019916
AA Change: V39A

DomainStartEndE-ValueType
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931406B18Rik T C 7: 43,504,175 probably benign Het
Adgra1 A G 7: 139,845,625 E18G probably damaging Het
Aen G A 7: 78,907,302 M299I probably damaging Het
Atg16l1 C T 1: 87,774,824 S269L probably damaging Het
Atp8a1 A G 5: 67,667,337 V853A probably benign Het
Bicral T C 17: 46,825,391 I298V probably damaging Het
Cad A G 5: 31,061,770 probably benign Het
Chd9 A T 8: 91,042,116 Y2448F probably benign Het
Clstn3 A G 6: 124,462,139 L16S probably damaging Het
Cmtr2 G A 8: 110,222,869 V604M possibly damaging Het
Ctcf A T 8: 105,681,485 probably benign Het
Eif2ak2 A G 17: 78,865,371 I295T probably damaging Het
Foxm1 G A 6: 128,370,967 R284H possibly damaging Het
Gabra2 T C 5: 70,962,072 I362M probably benign Het
Hivep1 C A 13: 42,159,984 P1900Q probably benign Het
Klhl25 G T 7: 75,866,149 E268* probably null Het
Klk1b16 T C 7: 44,140,678 L124P probably damaging Het
Ltf A T 9: 111,035,812 probably null Het
Mpped2 T A 2: 106,864,746 H248Q probably damaging Het
Mrpl1 T A 5: 96,224,036 probably benign Het
Mthfd1l T A 10: 4,028,428 S429R probably damaging Het
Myl2 G A 5: 122,106,704 V146I probably benign Het
Myo10 T A 15: 25,739,309 I527N possibly damaging Het
Ncoa3 T C 2: 166,052,795 S333P probably damaging Het
Olfr1297 T G 2: 111,621,340 T245P probably damaging Het
Olfr350 T G 2: 36,850,270 S75A probably damaging Het
Oxct1 T C 15: 4,053,764 F155S probably damaging Het
Padi6 G T 4: 140,730,953 T514N possibly damaging Het
Pgm1 G A 5: 64,107,796 V387I probably damaging Het
Ppt1 G A 4: 122,844,007 C46Y probably damaging Het
Rnf225 T C 7: 12,928,900 probably benign Het
Rpl26 T C 11: 68,902,398 Y42H probably benign Het
Rundc1 A G 11: 101,434,142 N558S probably damaging Het
Sema3e T G 5: 14,233,718 probably null Het
Slc8a1 T C 17: 81,388,942 I888V probably benign Het
Thsd7b T C 1: 129,596,146 C306R probably damaging Het
Tmem209 A C 6: 30,502,086 L197R probably benign Het
Tmem38b T G 4: 53,849,024 V119G probably damaging Het
Trpc1 T C 9: 95,726,494 D82G probably damaging Het
Zfp292 A G 4: 34,806,763 F2094L probably damaging Het
Zfp638 C T 6: 83,934,994 R453W probably damaging Het
Other mutations in P4ha1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01820:P4ha1 APN 10 59361914 missense probably damaging 1.00
IGL02340:P4ha1 APN 10 59352201 missense probably benign 0.03
IGL02480:P4ha1 APN 10 59343752 missense probably damaging 1.00
IGL02496:P4ha1 APN 10 59371002 critical splice acceptor site probably null
PIT4453001:P4ha1 UTSW 10 59350472 missense probably benign
R0149:P4ha1 UTSW 10 59348399 missense probably damaging 1.00
R0265:P4ha1 UTSW 10 59348259 missense probably damaging 1.00
R0282:P4ha1 UTSW 10 59337148 missense probably damaging 1.00
R0432:P4ha1 UTSW 10 59348257 nonsense probably null
R0683:P4ha1 UTSW 10 59337147 missense probably benign 0.05
R1929:P4ha1 UTSW 10 59371037 missense probably damaging 1.00
R5790:P4ha1 UTSW 10 59354362 missense probably benign 0.07
R5858:P4ha1 UTSW 10 59339378 missense probably damaging 1.00
R5955:P4ha1 UTSW 10 59342796 missense probably benign 0.00
R6123:P4ha1 UTSW 10 59350527 missense possibly damaging 0.80
R7237:P4ha1 UTSW 10 59348243 missense probably benign
R7350:P4ha1 UTSW 10 59350418 missense probably damaging 0.97
R7380:P4ha1 UTSW 10 59350451 missense probably benign 0.28
R7583:P4ha1 UTSW 10 59369640 missense probably benign 0.03
R8356:P4ha1 UTSW 10 59355363 missense probably damaging 1.00
R8843:P4ha1 UTSW 10 59369633 missense probably damaging 1.00
R8932:P4ha1 UTSW 10 59339308 missense possibly damaging 0.95
R9081:P4ha1 UTSW 10 59348363 missense probably damaging 1.00
R9153:P4ha1 UTSW 10 59367290 missense probably damaging 0.98
X0062:P4ha1 UTSW 10 59348246 missense possibly damaging 0.80
Posted On 2013-06-21