Incidental Mutation 'R6491:Phc1'
| ID |
543456 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Phc1
|
| Ensembl Gene |
ENSMUSG00000040669 |
| Gene Name |
polyhomeotic 1 |
| Synonyms |
rae28, Mph1, Rae-28, Edr1 |
| MMRRC Submission |
044623-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6491 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
122294690-122317520 bp(-) (GRCm39) |
| Type of Mutation |
|
| DNA Base Change (assembly) |
A to G
at 122311923 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
|
| AlphaFold |
no structure available at present |
| Meta Mutation Damage Score |
0.0869 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.5%
|
| Validation Efficiency |
100% (35/35) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a homolog of the Drosophila polyhomeotic gene, which is a member of the Polycomb group of genes. The gene product is a component of a multimeric protein complex that contains EDR2 and the vertebrate Polycomb protein BMH1. The gene product, the EDR2 protein, and the Drosophila polyhomeotic protein share 2 highly conserved domains, named homology domains I and II. These domains are involved in protein-protein interactions and may mediate heterodimerization of the protein encoded by this gene and the EDR2 protein. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant mice exhibit perinatal lethality, posterior skeletal transformations and defects in neural crest derived tissues, including ocular abnormalities, cleft palate, parathyroid and thymic hypoplasia and cardiac anomalies. Hematopoiesis is impaired in fetal livers. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(147) : Targeted, knock-out(1) Gene trapped(146) |
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4833420G17Rik |
T |
C |
13: 119,612,508 (GRCm39) |
L431P |
probably damaging |
Het |
| Acad10 |
A |
C |
5: 121,768,220 (GRCm39) |
W779G |
probably damaging |
Het |
| Acrbp |
A |
G |
6: 125,028,442 (GRCm39) |
|
probably benign |
Het |
| Ank3 |
G |
A |
10: 69,827,459 (GRCm39) |
A565T |
probably benign |
Het |
| Ap2a1 |
A |
T |
7: 44,565,588 (GRCm39) |
I93K |
probably damaging |
Het |
| Arnt |
T |
A |
3: 95,383,454 (GRCm39) |
M240K |
probably damaging |
Het |
| Ceacam12 |
A |
T |
7: 17,803,185 (GRCm39) |
K197M |
probably damaging |
Het |
| Cep41 |
T |
C |
6: 30,656,483 (GRCm39) |
N323S |
probably benign |
Het |
| Dst |
A |
G |
1: 34,232,093 (GRCm39) |
T2904A |
probably benign |
Het |
| Eml1 |
G |
A |
12: 108,479,330 (GRCm39) |
|
probably null |
Het |
| Fbln2 |
A |
G |
6: 91,236,732 (GRCm39) |
N749S |
possibly damaging |
Het |
| Irf2bpl |
A |
G |
12: 86,930,238 (GRCm39) |
V145A |
probably benign |
Het |
| Itga2b |
T |
C |
11: 102,350,695 (GRCm39) |
|
probably null |
Het |
| Itga8 |
T |
C |
2: 12,209,587 (GRCm39) |
D466G |
probably damaging |
Het |
| Kdm4c |
G |
T |
4: 74,291,873 (GRCm39) |
C830F |
probably damaging |
Het |
| Mrps27 |
T |
C |
13: 99,499,538 (GRCm39) |
S73P |
probably damaging |
Het |
| Mtdh |
T |
G |
15: 34,116,473 (GRCm39) |
N17K |
probably damaging |
Het |
| Muc3a |
A |
G |
5: 137,246,591 (GRCm39) |
S9P |
probably benign |
Het |
| Or8b46 |
A |
G |
9: 38,558,751 (GRCm39) |
L23P |
probably damaging |
Het |
| Oxgr1 |
T |
A |
14: 120,259,419 (GRCm39) |
I263F |
probably benign |
Het |
| Ppp2r5d |
A |
G |
17: 46,996,509 (GRCm39) |
F388S |
probably damaging |
Het |
| Pxmp4 |
A |
G |
2: 154,434,083 (GRCm39) |
|
probably null |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Ror1 |
A |
G |
4: 100,267,109 (GRCm39) |
N270S |
possibly damaging |
Het |
| Slc7a14 |
T |
C |
3: 31,278,093 (GRCm39) |
Y504C |
probably damaging |
Het |
| Snx9 |
A |
G |
17: 5,970,437 (GRCm39) |
D391G |
probably benign |
Het |
| St18 |
T |
A |
1: 6,898,209 (GRCm39) |
Y670* |
probably null |
Het |
| Tjp1 |
A |
T |
7: 64,986,865 (GRCm39) |
F207I |
possibly damaging |
Het |
| Trappc3 |
A |
G |
4: 126,169,022 (GRCm39) |
I171V |
probably benign |
Het |
| Ugt2b5 |
A |
T |
5: 87,273,328 (GRCm39) |
L446* |
probably null |
Het |
| Vmn2r105 |
A |
T |
17: 20,447,992 (GRCm39) |
Y277* |
probably null |
Het |
| Vmn2r11 |
A |
T |
5: 109,196,800 (GRCm39) |
N557K |
possibly damaging |
Het |
| Yod1 |
G |
A |
1: 130,645,275 (GRCm39) |
G19S |
probably damaging |
Het |
| Zfp938 |
A |
G |
10: 82,063,363 (GRCm39) |
*65Q |
probably null |
Het |
|
| Other mutations in Phc1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00340:Phc1
|
APN |
6 |
122,299,958 (GRCm39) |
splice site |
probably benign |
|
|
IGL01354:Phc1
|
APN |
6 |
122,311,042 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01786:Phc1
|
APN |
6 |
122,296,479 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL02110:Phc1
|
APN |
6 |
122,298,994 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL02479:Phc1
|
APN |
6 |
122,300,676 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02861:Phc1
|
APN |
6 |
122,300,748 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03106:Phc1
|
APN |
6 |
122,300,428 (GRCm39) |
unclassified |
probably benign |
|
|
3-1:Phc1
|
UTSW |
6 |
122,315,423 (GRCm39) |
intron |
probably benign |
|
|
FR4737:Phc1
|
UTSW |
6 |
122,300,557 (GRCm39) |
small insertion |
probably benign |
|
|
FR4976:Phc1
|
UTSW |
6 |
122,300,559 (GRCm39) |
small insertion |
probably benign |
|
|
R0452:Phc1
|
UTSW |
6 |
122,299,995 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1146:Phc1
|
UTSW |
6 |
122,300,416 (GRCm39) |
unclassified |
probably benign |
|
|
R1146:Phc1
|
UTSW |
6 |
122,300,416 (GRCm39) |
unclassified |
probably benign |
|
|
R1301:Phc1
|
UTSW |
6 |
122,302,833 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1738:Phc1
|
UTSW |
6 |
122,295,525 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2056:Phc1
|
UTSW |
6 |
122,310,299 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2164:Phc1
|
UTSW |
6 |
122,299,296 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R2183:Phc1
|
UTSW |
6 |
122,300,284 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2424:Phc1
|
UTSW |
6 |
122,297,002 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4378:Phc1
|
UTSW |
6 |
122,311,966 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R4648:Phc1
|
UTSW |
6 |
122,298,872 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4831:Phc1
|
UTSW |
6 |
122,313,964 (GRCm39) |
start gained |
probably benign |
|
|
R5244:Phc1
|
UTSW |
6 |
122,298,938 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5475:Phc1
|
UTSW |
6 |
122,311,051 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6701:Phc1
|
UTSW |
6 |
122,302,733 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6733:Phc1
|
UTSW |
6 |
122,313,845 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R7022:Phc1
|
UTSW |
6 |
122,311,990 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7383:Phc1
|
UTSW |
6 |
122,300,317 (GRCm39) |
missense |
unknown |
|
|
R7707:Phc1
|
UTSW |
6 |
122,300,739 (GRCm39) |
missense |
unknown |
|
|
R7825:Phc1
|
UTSW |
6 |
122,299,340 (GRCm39) |
missense |
probably benign |
0.26 |
|
R7846:Phc1
|
UTSW |
6 |
122,310,329 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8314:Phc1
|
UTSW |
6 |
122,297,937 (GRCm39) |
missense |
unknown |
|
|
R8346:Phc1
|
UTSW |
6 |
122,302,774 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8534:Phc1
|
UTSW |
6 |
122,315,539 (GRCm39) |
intron |
probably benign |
|
|
RF036:Phc1
|
UTSW |
6 |
122,300,539 (GRCm39) |
small insertion |
probably benign |
|
|
RF041:Phc1
|
UTSW |
6 |
122,300,559 (GRCm39) |
small insertion |
probably benign |
|
|
RF044:Phc1
|
UTSW |
6 |
122,300,559 (GRCm39) |
small insertion |
probably benign |
|
|
RF064:Phc1
|
UTSW |
6 |
122,300,539 (GRCm39) |
small insertion |
probably benign |
|
|
X0024:Phc1
|
UTSW |
6 |
122,300,588 (GRCm39) |
small deletion |
probably benign |
|
|
X0026:Phc1
|
UTSW |
6 |
122,296,497 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTCTAAAGAGTCTCCCACAGTTC -3'
(R):5'- TCAGATGCTGTGATAGTCGTCC -3'
Sequencing Primer
(F):5'- TCATACTGCAACCTTAATCTAAGAAC -3'
(R):5'- TTCGCAACAGTGACGCACATG -3'
|
| Posted On |
2019-01-04 |
Incidental Mutation