Incidental Mutation 'R1119:P4ha3'
| ID |
97736 |
| 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 |
039192-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
R1119 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| 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: 99.0%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.4%
|
| Validation Efficiency |
100% (51/51) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl3 |
A |
C |
7: 82,189,525 (GRCm39) |
E583A |
probably damaging |
Het |
| Aoah |
T |
A |
13: 21,099,108 (GRCm39) |
|
probably benign |
Het |
| Atf7ip2 |
A |
G |
16: 10,058,476 (GRCm39) |
K305R |
possibly damaging |
Het |
| Bltp1 |
T |
G |
3: 37,041,194 (GRCm39) |
V2524G |
probably damaging |
Het |
| Cd200r2 |
A |
G |
16: 44,729,969 (GRCm39) |
N171S |
probably damaging |
Het |
| Cfap57 |
G |
A |
4: 118,463,873 (GRCm39) |
Q327* |
probably null |
Het |
| Ckap2l |
A |
T |
2: 129,114,492 (GRCm39) |
|
probably benign |
Het |
| Cul2 |
A |
G |
18: 3,419,335 (GRCm39) |
|
probably benign |
Het |
| Ddx60 |
G |
A |
8: 62,395,578 (GRCm39) |
V172M |
probably damaging |
Het |
| Drp2 |
T |
C |
X: 133,342,071 (GRCm39) |
L545P |
probably damaging |
Het |
| Ezh1 |
A |
G |
11: 101,101,361 (GRCm39) |
|
probably benign |
Het |
| Gipc2 |
A |
G |
3: 151,799,833 (GRCm39) |
F299S |
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 |
| Hikeshi |
A |
G |
7: 89,584,938 (GRCm39) |
S89P |
probably benign |
Het |
| Hmcn1 |
C |
T |
1: 150,494,679 (GRCm39) |
A4137T |
possibly damaging |
Het |
| Itprid1 |
T |
C |
6: 55,866,155 (GRCm39) |
F183L |
probably damaging |
Het |
| Larp1b |
C |
A |
3: 40,987,963 (GRCm39) |
R62S |
possibly damaging |
Het |
| Lgr5 |
A |
T |
10: 115,296,716 (GRCm39) |
|
probably null |
Het |
| Lpin1 |
C |
A |
12: 16,613,722 (GRCm39) |
D449Y |
probably damaging |
Het |
| Macrod2 |
A |
T |
2: 140,242,826 (GRCm39) |
I31L |
probably benign |
Het |
| Meig1 |
T |
C |
2: 3,410,311 (GRCm39) |
D63G |
probably 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 |
| Nxpe5 |
G |
A |
5: 138,237,658 (GRCm39) |
D61N |
probably benign |
Het |
| Ogdh |
T |
A |
11: 6,290,544 (GRCm39) |
H376Q |
probably damaging |
Het |
| Pcdhb14 |
G |
A |
18: 37,581,640 (GRCm39) |
V249M |
probably damaging |
Het |
| Pcnp |
A |
G |
16: 55,844,754 (GRCm39) |
S49P |
probably damaging |
Het |
| Pik3r6 |
C |
T |
11: 68,436,698 (GRCm39) |
T654I |
probably benign |
Het |
| Rptn |
A |
G |
3: 93,303,552 (GRCm39) |
Y295C |
possibly damaging |
Het |
| Sec16b |
A |
G |
1: 157,392,404 (GRCm39) |
D924G |
possibly damaging |
Het |
| Setd1b |
C |
A |
5: 123,285,779 (GRCm39) |
T275K |
unknown |
Het |
| Sgcb |
T |
A |
5: 73,801,757 (GRCm39) |
K36I |
probably damaging |
Het |
| Smg7 |
A |
T |
1: 152,742,326 (GRCm39) |
|
probably benign |
Het |
| Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
| Stab2 |
T |
C |
10: 86,695,619 (GRCm39) |
D599G |
possibly damaging |
Het |
| Stk36 |
A |
G |
1: 74,671,925 (GRCm39) |
E875G |
probably benign |
Het |
| Tagln3 |
C |
A |
16: 45,544,635 (GRCm39) |
R12L |
probably damaging |
Het |
| Tax1bp1 |
C |
A |
6: 52,718,933 (GRCm39) |
|
probably benign |
Het |
| Thnsl1 |
A |
G |
2: 21,217,857 (GRCm39) |
N16S |
probably damaging |
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 |
| Trappc9 |
G |
A |
15: 72,897,816 (GRCm39) |
R377W |
probably damaging |
Het |
| Vmn2r60 |
A |
T |
7: 41,844,365 (GRCm39) |
Q576L |
possibly damaging |
Het |
| Zfp62 |
G |
T |
11: 49,107,517 (GRCm39) |
R536L |
probably damaging |
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 |
|
R1118: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 |
Incidental Mutation