Incidental Mutation 'R6123:P4ha1'
| ID |
485837 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
P4ha1
|
| Ensembl Gene |
ENSMUSG00000019916 |
| Gene Name |
procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha 1 polypeptide |
| Synonyms |
P4ha |
| MMRRC Submission |
044270-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6123 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
59159118-59209126 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 59186349 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Isoleucine
at position 276
(K276I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101106
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000009789]
[ENSMUST00000092512]
[ENSMUST00000105466]
|
| AlphaFold |
Q60715 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000009789
AA Change: K276I
PolyPhen 2
Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000009789
Gene: ENSMUSG00000019916
AA Change: K276I
| 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 benign
Transcript: ENSMUST00000092512
AA Change: K196I
PolyPhen 2
Score 0.349 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000090170
Gene: ENSMUSG00000019916
AA Change: K196I
| 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 |
possibly damaging
Transcript: ENSMUST00000105466
AA Change: K276I
PolyPhen 2
Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000101106
Gene: ENSMUSG00000019916
AA Change: K276I
| 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 |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.5%
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot7 |
A |
G |
4: 152,284,402 (GRCm39) |
E24G |
probably benign |
Het |
| Ankrd34b |
A |
G |
13: 92,575,584 (GRCm39) |
E272G |
probably damaging |
Het |
| Arhgef18 |
A |
T |
8: 3,487,091 (GRCm39) |
N270I |
probably damaging |
Het |
| AU040320 |
A |
G |
4: 126,763,179 (GRCm39) |
|
probably benign |
Het |
| Btnl10 |
C |
A |
11: 58,811,130 (GRCm39) |
S151Y |
probably damaging |
Het |
| Ccdc146 |
C |
A |
5: 21,510,595 (GRCm39) |
R504I |
possibly damaging |
Het |
| Ckmt1 |
C |
G |
2: 121,194,060 (GRCm39) |
R408G |
probably benign |
Het |
| Clba1 |
T |
C |
12: 112,774,530 (GRCm39) |
F153L |
probably damaging |
Het |
| Cyp2j6 |
A |
T |
4: 96,406,266 (GRCm39) |
*502R |
probably null |
Het |
| Dido1 |
A |
T |
2: 180,325,760 (GRCm39) |
V476E |
probably benign |
Het |
| Dnah2 |
T |
C |
11: 69,409,185 (GRCm39) |
K398E |
probably benign |
Het |
| E130308A19Rik |
A |
G |
4: 59,737,565 (GRCm39) |
Y392C |
probably damaging |
Het |
| Esf1 |
T |
A |
2: 140,010,309 (GRCm39) |
D9V |
probably benign |
Het |
| Fam168a |
A |
G |
7: 100,473,357 (GRCm39) |
Q82R |
probably damaging |
Het |
| Fastkd3 |
C |
T |
13: 68,738,337 (GRCm39) |
Q32* |
probably null |
Het |
| Gm14496 |
T |
A |
2: 181,633,020 (GRCm39) |
M1K |
probably null |
Het |
| Gm6665 |
A |
G |
18: 31,952,937 (GRCm39) |
M79T |
probably benign |
Het |
| Gna15 |
A |
G |
10: 81,345,178 (GRCm39) |
L229P |
probably damaging |
Het |
| Herc1 |
A |
G |
9: 66,404,532 (GRCm39) |
T4451A |
probably damaging |
Het |
| Igf2bp1 |
A |
G |
11: 95,866,122 (GRCm39) |
V122A |
probably damaging |
Het |
| Ighv5-4 |
A |
T |
12: 113,561,313 (GRCm39) |
S36T |
probably damaging |
Het |
| Ints3 |
A |
G |
3: 90,320,861 (GRCm39) |
V186A |
probably benign |
Het |
| Jrk |
A |
G |
15: 74,578,529 (GRCm39) |
I252T |
possibly damaging |
Het |
| Kcnh5 |
T |
C |
12: 75,134,365 (GRCm39) |
S395G |
probably benign |
Het |
| Kcnt2 |
C |
T |
1: 140,290,718 (GRCm39) |
P103S |
probably damaging |
Het |
| Klra10 |
T |
C |
6: 130,256,339 (GRCm39) |
K105R |
probably benign |
Het |
| Pcyox1 |
A |
G |
6: 86,365,910 (GRCm39) |
S435P |
possibly damaging |
Het |
| Potegl |
T |
C |
2: 23,120,134 (GRCm39) |
Y235H |
possibly damaging |
Het |
| Pramel26 |
A |
T |
4: 143,539,334 (GRCm39) |
M53K |
possibly damaging |
Het |
| R3hdm1 |
A |
T |
1: 128,096,773 (GRCm39) |
N103I |
probably damaging |
Het |
| Rnf213 |
T |
C |
11: 119,302,339 (GRCm39) |
V421A |
probably damaging |
Het |
| Rnpc3 |
A |
T |
3: 113,402,705 (GRCm39) |
|
probably null |
Het |
| Scaf11 |
A |
G |
15: 96,318,335 (GRCm39) |
S410P |
probably benign |
Het |
| Slc16a1 |
A |
G |
3: 104,560,510 (GRCm39) |
T272A |
probably benign |
Het |
| Slco3a1 |
C |
T |
7: 73,968,254 (GRCm39) |
D489N |
probably benign |
Het |
| Slitrk3 |
T |
C |
3: 72,957,095 (GRCm39) |
D559G |
probably damaging |
Het |
| Sntb2 |
G |
A |
8: 107,707,857 (GRCm39) |
G207D |
probably damaging |
Het |
| Spata31f1e |
A |
G |
4: 42,793,065 (GRCm39) |
S356P |
possibly damaging |
Het |
| Spdye4a |
T |
C |
5: 143,211,473 (GRCm39) |
I30M |
possibly damaging |
Het |
| Thumpd1 |
A |
T |
7: 119,316,232 (GRCm39) |
V239E |
probably damaging |
Het |
| Tnfsf15 |
T |
C |
4: 63,663,162 (GRCm39) |
S54G |
probably benign |
Het |
| Tor1aip1 |
A |
G |
1: 155,882,951 (GRCm39) |
I299T |
probably damaging |
Het |
| Tpst2 |
C |
T |
5: 112,456,084 (GRCm39) |
R208C |
probably damaging |
Het |
| Tubgcp2 |
T |
C |
7: 139,587,510 (GRCm39) |
Y285C |
probably damaging |
Het |
| Vav3 |
C |
T |
3: 109,571,681 (GRCm39) |
T201M |
probably damaging |
Het |
| Washc5 |
A |
G |
15: 59,206,959 (GRCm39) |
S1105P |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGACAACTGTAAACTTGCCTATGTG -3'
(R):5'- CATTTTCACTGCGGTAGGC -3'
Sequencing Primer
(F):5'- GTAAACTTGCCTATGTGCACAC -3'
(R):5'- GCACACAGCATACTATTTTGTGCAG -3'
|
| Posted On |
2017-08-16 |
Incidental Mutation