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)
|
Stock # |
IGL01068
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
59159118-59209126 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 59175157 bp (GRCm39)
|
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
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 |
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
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: V39A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000101106 Gene: ENSMUSG00000019916 AA Change: V39A
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4931406B18Rik |
T |
C |
7: 43,153,599 (GRCm39) |
|
probably benign |
Het |
Adgra1 |
A |
G |
7: 139,425,541 (GRCm39) |
E18G |
probably damaging |
Het |
Aen |
G |
A |
7: 78,557,050 (GRCm39) |
M299I |
probably damaging |
Het |
Atg16l1 |
C |
T |
1: 87,702,546 (GRCm39) |
S269L |
probably damaging |
Het |
Atp8a1 |
A |
G |
5: 67,824,680 (GRCm39) |
V853A |
probably benign |
Het |
Bicral |
T |
C |
17: 47,136,317 (GRCm39) |
I298V |
probably damaging |
Het |
Cad |
A |
G |
5: 31,219,114 (GRCm39) |
|
probably benign |
Het |
Chd9 |
A |
T |
8: 91,768,744 (GRCm39) |
Y2448F |
probably benign |
Het |
Clstn3 |
A |
G |
6: 124,439,098 (GRCm39) |
L16S |
probably damaging |
Het |
Cmtr2 |
G |
A |
8: 110,949,501 (GRCm39) |
V604M |
possibly damaging |
Het |
Ctcf |
A |
T |
8: 106,408,117 (GRCm39) |
|
probably benign |
Het |
Eif2ak2 |
A |
G |
17: 79,172,800 (GRCm39) |
I295T |
probably damaging |
Het |
Foxm1 |
G |
A |
6: 128,347,930 (GRCm39) |
R284H |
possibly damaging |
Het |
Gabra2 |
T |
C |
5: 71,119,415 (GRCm39) |
I362M |
probably benign |
Het |
Hivep1 |
C |
A |
13: 42,313,460 (GRCm39) |
P1900Q |
probably benign |
Het |
Klhl25 |
G |
T |
7: 75,515,897 (GRCm39) |
E268* |
probably null |
Het |
Klk1b16 |
T |
C |
7: 43,790,102 (GRCm39) |
L124P |
probably damaging |
Het |
Ltf |
A |
T |
9: 110,864,880 (GRCm39) |
|
probably null |
Het |
Mpped2 |
T |
A |
2: 106,695,091 (GRCm39) |
H248Q |
probably damaging |
Het |
Mrpl1 |
T |
A |
5: 96,371,895 (GRCm39) |
|
probably benign |
Het |
Mthfd1l |
T |
A |
10: 3,978,428 (GRCm39) |
S429R |
probably damaging |
Het |
Myl2 |
G |
A |
5: 122,244,767 (GRCm39) |
V146I |
probably benign |
Het |
Myo10 |
T |
A |
15: 25,739,395 (GRCm39) |
I527N |
possibly damaging |
Het |
Ncoa3 |
T |
C |
2: 165,894,715 (GRCm39) |
S333P |
probably damaging |
Het |
Or1j4 |
T |
G |
2: 36,740,282 (GRCm39) |
S75A |
probably damaging |
Het |
Or4k47 |
T |
G |
2: 111,451,685 (GRCm39) |
T245P |
probably damaging |
Het |
Oxct1 |
T |
C |
15: 4,083,246 (GRCm39) |
F155S |
probably damaging |
Het |
Padi6 |
G |
T |
4: 140,458,264 (GRCm39) |
T514N |
possibly damaging |
Het |
Pgm2 |
G |
A |
5: 64,265,139 (GRCm39) |
V387I |
probably damaging |
Het |
Ppt1 |
G |
A |
4: 122,737,800 (GRCm39) |
C46Y |
probably damaging |
Het |
Rnf225 |
T |
C |
7: 12,662,827 (GRCm39) |
|
probably benign |
Het |
Rpl26 |
T |
C |
11: 68,793,224 (GRCm39) |
Y42H |
probably benign |
Het |
Rundc1 |
A |
G |
11: 101,324,968 (GRCm39) |
N558S |
probably damaging |
Het |
Sema3e |
T |
G |
5: 14,283,732 (GRCm39) |
|
probably null |
Het |
Slc8a1 |
T |
C |
17: 81,696,371 (GRCm39) |
I888V |
probably benign |
Het |
Thsd7b |
T |
C |
1: 129,523,883 (GRCm39) |
C306R |
probably damaging |
Het |
Tmem209 |
A |
C |
6: 30,502,085 (GRCm39) |
L197R |
probably benign |
Het |
Tmem38b |
T |
G |
4: 53,849,024 (GRCm39) |
V119G |
probably damaging |
Het |
Trpc1 |
T |
C |
9: 95,608,547 (GRCm39) |
D82G |
probably damaging |
Het |
Zfp292 |
A |
G |
4: 34,806,763 (GRCm39) |
F2094L |
probably damaging |
Het |
Zfp638 |
C |
T |
6: 83,911,976 (GRCm39) |
R453W |
probably damaging |
Het |
|
Other mutations in P4ha1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
IGL02480:P4ha1
|
APN |
10 |
59,179,574 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
2013-06-21 |