Incidental Mutation 'IGL01786:Phc1'
| ID |
155076 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Phc1
|
| Ensembl Gene |
ENSMUSG00000040669 |
| Gene Name |
polyhomeotic 1 |
| Synonyms |
rae28, Mph1, Rae-28, Edr1 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01786
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
122294690-122317520 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 122296479 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 847
(D847G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124678
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007602]
[ENSMUST00000079560]
[ENSMUST00000081849]
[ENSMUST00000112600]
[ENSMUST00000112610]
[ENSMUST00000159252]
[ENSMUST00000160696]
[ENSMUST00000161054]
[ENSMUST00000161739]
[ENSMUST00000160163]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000007602
|
| SMART Domains |
Protein: ENSMUSP00000007602
Gene: ENSMUSG00000007458
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Man-6-P_recep
|
1 |
278 |
4.5e-184 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000079560
AA Change: D892G
|
| SMART Domains |
Protein: ENSMUSP00000078514
Gene: ENSMUSG00000040669
AA Change: D892G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
22 |
N/A |
INTRINSIC |
|
low complexity region
|
34 |
46 |
N/A |
INTRINSIC |
|
low complexity region
|
83 |
102 |
N/A |
INTRINSIC |
|
low complexity region
|
182 |
196 |
N/A |
INTRINSIC |
|
low complexity region
|
240 |
303 |
N/A |
INTRINSIC |
|
low complexity region
|
330 |
341 |
N/A |
INTRINSIC |
|
low complexity region
|
373 |
416 |
N/A |
INTRINSIC |
|
coiled coil region
|
420 |
446 |
N/A |
INTRINSIC |
|
low complexity region
|
448 |
480 |
N/A |
INTRINSIC |
|
low complexity region
|
485 |
506 |
N/A |
INTRINSIC |
|
low complexity region
|
524 |
535 |
N/A |
INTRINSIC |
|
low complexity region
|
543 |
556 |
N/A |
INTRINSIC |
|
low complexity region
|
575 |
587 |
N/A |
INTRINSIC |
|
low complexity region
|
617 |
628 |
N/A |
INTRINSIC |
|
low complexity region
|
704 |
722 |
N/A |
INTRINSIC |
|
Pfam:zf-FCS
|
798 |
833 |
4.9e-8 |
PFAM |
|
low complexity region
|
855 |
869 |
N/A |
INTRINSIC |
|
SAM
|
943 |
1010 |
9.57e-15 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000081849
AA Change: D840G
|
| SMART Domains |
Protein: ENSMUSP00000080532
Gene: ENSMUSG00000040669
AA Change: D840G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
22 |
N/A |
INTRINSIC |
|
low complexity region
|
34 |
46 |
N/A |
INTRINSIC |
|
low complexity region
|
83 |
102 |
N/A |
INTRINSIC |
|
low complexity region
|
188 |
251 |
N/A |
INTRINSIC |
|
low complexity region
|
278 |
289 |
N/A |
INTRINSIC |
|
low complexity region
|
321 |
364 |
N/A |
INTRINSIC |
|
coiled coil region
|
368 |
394 |
N/A |
INTRINSIC |
|
low complexity region
|
396 |
428 |
N/A |
INTRINSIC |
|
low complexity region
|
433 |
454 |
N/A |
INTRINSIC |
|
low complexity region
|
472 |
483 |
N/A |
INTRINSIC |
|
low complexity region
|
491 |
504 |
N/A |
INTRINSIC |
|
low complexity region
|
523 |
535 |
N/A |
INTRINSIC |
|
low complexity region
|
565 |
576 |
N/A |
INTRINSIC |
|
low complexity region
|
652 |
670 |
N/A |
INTRINSIC |
|
Pfam:zf-FCS
|
746 |
781 |
4.6e-8 |
PFAM |
|
low complexity region
|
803 |
817 |
N/A |
INTRINSIC |
|
SAM
|
891 |
958 |
9.57e-15 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000112600
AA Change: D840G
|
| SMART Domains |
Protein: ENSMUSP00000108219
Gene: ENSMUSG00000040669
AA Change: D840G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
22 |
N/A |
INTRINSIC |
|
low complexity region
|
34 |
46 |
N/A |
INTRINSIC |
|
low complexity region
|
83 |
102 |
N/A |
INTRINSIC |
|
low complexity region
|
188 |
251 |
N/A |
INTRINSIC |
|
low complexity region
|
278 |
289 |
N/A |
INTRINSIC |
|
low complexity region
|
321 |
364 |
N/A |
INTRINSIC |
|
coiled coil region
|
368 |
394 |
N/A |
INTRINSIC |
|
low complexity region
|
396 |
428 |
N/A |
INTRINSIC |
|
low complexity region
|
433 |
454 |
N/A |
INTRINSIC |
|
low complexity region
|
472 |
483 |
N/A |
INTRINSIC |
|
low complexity region
|
491 |
504 |
N/A |
INTRINSIC |
|
low complexity region
|
523 |
535 |
N/A |
INTRINSIC |
|
low complexity region
|
565 |
576 |
N/A |
INTRINSIC |
|
low complexity region
|
652 |
670 |
N/A |
INTRINSIC |
|
Pfam:zf-FCS
|
746 |
781 |
4.6e-8 |
PFAM |
|
low complexity region
|
803 |
817 |
N/A |
INTRINSIC |
|
SAM
|
891 |
958 |
9.57e-15 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112610
|
| SMART Domains |
Protein: ENSMUSP00000108229
Gene: ENSMUSG00000007458
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Man-6-P_recep
|
1 |
278 |
3.9e-200 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123093
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000159252
AA Change: D847G
PolyPhen 2
Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000124678
Gene: ENSMUSG00000040669
AA Change: D847G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
22 |
N/A |
INTRINSIC |
|
low complexity region
|
46 |
65 |
N/A |
INTRINSIC |
|
low complexity region
|
137 |
151 |
N/A |
INTRINSIC |
|
low complexity region
|
195 |
258 |
N/A |
INTRINSIC |
|
low complexity region
|
285 |
296 |
N/A |
INTRINSIC |
|
low complexity region
|
328 |
371 |
N/A |
INTRINSIC |
|
coiled coil region
|
375 |
401 |
N/A |
INTRINSIC |
|
low complexity region
|
403 |
435 |
N/A |
INTRINSIC |
|
low complexity region
|
440 |
461 |
N/A |
INTRINSIC |
|
low complexity region
|
479 |
490 |
N/A |
INTRINSIC |
|
low complexity region
|
498 |
511 |
N/A |
INTRINSIC |
|
low complexity region
|
530 |
542 |
N/A |
INTRINSIC |
|
low complexity region
|
572 |
583 |
N/A |
INTRINSIC |
|
low complexity region
|
659 |
677 |
N/A |
INTRINSIC |
|
Pfam:zf-FCS
|
753 |
788 |
2.2e-8 |
PFAM |
|
low complexity region
|
810 |
824 |
N/A |
INTRINSIC |
|
SAM
|
898 |
965 |
9.57e-15 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000160696
AA Change: D892G
|
| SMART Domains |
Protein: ENSMUSP00000125580
Gene: ENSMUSG00000040669
AA Change: D892G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
22 |
N/A |
INTRINSIC |
|
low complexity region
|
34 |
46 |
N/A |
INTRINSIC |
|
low complexity region
|
83 |
102 |
N/A |
INTRINSIC |
|
low complexity region
|
182 |
196 |
N/A |
INTRINSIC |
|
low complexity region
|
240 |
303 |
N/A |
INTRINSIC |
|
low complexity region
|
330 |
341 |
N/A |
INTRINSIC |
|
low complexity region
|
373 |
416 |
N/A |
INTRINSIC |
|
coiled coil region
|
420 |
446 |
N/A |
INTRINSIC |
|
low complexity region
|
448 |
480 |
N/A |
INTRINSIC |
|
low complexity region
|
485 |
506 |
N/A |
INTRINSIC |
|
low complexity region
|
524 |
535 |
N/A |
INTRINSIC |
|
low complexity region
|
543 |
556 |
N/A |
INTRINSIC |
|
low complexity region
|
575 |
587 |
N/A |
INTRINSIC |
|
low complexity region
|
617 |
628 |
N/A |
INTRINSIC |
|
low complexity region
|
704 |
722 |
N/A |
INTRINSIC |
|
Pfam:PHC2_SAM_assoc
|
834 |
941 |
3.4e-31 |
PFAM |
|
SAM
|
943 |
1010 |
9.57e-15 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000161054
AA Change: D840G
|
| SMART Domains |
Protein: ENSMUSP00000123911
Gene: ENSMUSG00000040669
AA Change: D840G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
22 |
N/A |
INTRINSIC |
|
low complexity region
|
34 |
46 |
N/A |
INTRINSIC |
|
low complexity region
|
83 |
102 |
N/A |
INTRINSIC |
|
low complexity region
|
188 |
251 |
N/A |
INTRINSIC |
|
low complexity region
|
278 |
289 |
N/A |
INTRINSIC |
|
low complexity region
|
321 |
364 |
N/A |
INTRINSIC |
|
coiled coil region
|
368 |
394 |
N/A |
INTRINSIC |
|
low complexity region
|
396 |
428 |
N/A |
INTRINSIC |
|
low complexity region
|
433 |
454 |
N/A |
INTRINSIC |
|
low complexity region
|
472 |
483 |
N/A |
INTRINSIC |
|
low complexity region
|
491 |
504 |
N/A |
INTRINSIC |
|
low complexity region
|
523 |
535 |
N/A |
INTRINSIC |
|
low complexity region
|
565 |
576 |
N/A |
INTRINSIC |
|
low complexity region
|
652 |
670 |
N/A |
INTRINSIC |
|
Pfam:zf-FCS
|
746 |
781 |
4.6e-8 |
PFAM |
|
low complexity region
|
803 |
817 |
N/A |
INTRINSIC |
|
SAM
|
891 |
958 |
9.57e-15 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000161739
AA Change: D892G
|
| SMART Domains |
Protein: ENSMUSP00000125568
Gene: ENSMUSG00000040669
AA Change: D892G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
22 |
N/A |
INTRINSIC |
|
low complexity region
|
34 |
46 |
N/A |
INTRINSIC |
|
low complexity region
|
83 |
102 |
N/A |
INTRINSIC |
|
low complexity region
|
182 |
196 |
N/A |
INTRINSIC |
|
low complexity region
|
240 |
303 |
N/A |
INTRINSIC |
|
low complexity region
|
330 |
341 |
N/A |
INTRINSIC |
|
low complexity region
|
373 |
416 |
N/A |
INTRINSIC |
|
coiled coil region
|
420 |
446 |
N/A |
INTRINSIC |
|
low complexity region
|
448 |
480 |
N/A |
INTRINSIC |
|
low complexity region
|
485 |
506 |
N/A |
INTRINSIC |
|
low complexity region
|
524 |
535 |
N/A |
INTRINSIC |
|
low complexity region
|
543 |
556 |
N/A |
INTRINSIC |
|
low complexity region
|
575 |
587 |
N/A |
INTRINSIC |
|
low complexity region
|
617 |
628 |
N/A |
INTRINSIC |
|
low complexity region
|
704 |
722 |
N/A |
INTRINSIC |
|
Pfam:zf-FCS
|
798 |
833 |
4.9e-8 |
PFAM |
|
low complexity region
|
855 |
869 |
N/A |
INTRINSIC |
|
SAM
|
943 |
1010 |
9.57e-15 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161877
|
| SMART Domains |
Protein: ENSMUSP00000123854
Gene: ENSMUSG00000040669
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
22 |
N/A |
INTRINSIC |
|
low complexity region
|
34 |
46 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160163
|
| SMART Domains |
Protein: ENSMUSP00000125545
Gene: ENSMUSG00000040669
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
22 |
N/A |
INTRINSIC |
|
low complexity region
|
34 |
46 |
N/A |
INTRINSIC |
|
| 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 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam9 |
T |
A |
8: 25,486,855 (GRCm39) |
H20L |
probably damaging |
Het |
| Ano3 |
T |
A |
2: 110,513,060 (GRCm39) |
Q645L |
probably damaging |
Het |
| Clasp1 |
T |
A |
1: 118,425,466 (GRCm39) |
L272Q |
possibly damaging |
Het |
| Corin |
T |
C |
5: 72,497,219 (GRCm39) |
N532S |
probably damaging |
Het |
| Ddx1 |
A |
T |
12: 13,279,137 (GRCm39) |
D468E |
probably benign |
Het |
| Hk2 |
A |
G |
6: 82,716,534 (GRCm39) |
S333P |
probably benign |
Het |
| Kctd19 |
T |
C |
8: 106,116,936 (GRCm39) |
T398A |
probably benign |
Het |
| Klra8 |
T |
A |
6: 130,096,031 (GRCm39) |
|
probably null |
Het |
| Mcm8 |
A |
G |
2: 132,669,868 (GRCm39) |
D314G |
probably benign |
Het |
| Mga |
T |
A |
2: 119,733,393 (GRCm39) |
D80E |
probably damaging |
Het |
| Mylk3 |
T |
C |
8: 86,085,946 (GRCm39) |
Q36R |
probably benign |
Het |
| Myom2 |
T |
C |
8: 15,156,330 (GRCm39) |
S726P |
probably damaging |
Het |
| Nuf2 |
T |
C |
1: 169,338,052 (GRCm39) |
S242G |
possibly damaging |
Het |
| Nup210l |
T |
A |
3: 90,030,083 (GRCm39) |
Y265* |
probably null |
Het |
| Or12j3 |
T |
A |
7: 139,953,038 (GRCm39) |
M162L |
probably benign |
Het |
| Or5b12b |
C |
T |
19: 12,861,641 (GRCm39) |
T132I |
probably damaging |
Het |
| Otud3 |
T |
C |
4: 138,624,208 (GRCm39) |
D278G |
probably benign |
Het |
| Papolg |
A |
G |
11: 23,824,488 (GRCm39) |
V298A |
probably damaging |
Het |
| Pkd2l1 |
A |
G |
19: 44,179,881 (GRCm39) |
F110L |
probably damaging |
Het |
| Plxnd1 |
T |
A |
6: 115,936,896 (GRCm39) |
T1638S |
probably damaging |
Het |
| Polr3a |
G |
A |
14: 24,534,188 (GRCm39) |
Q106* |
probably null |
Het |
| Rnf32 |
T |
C |
5: 29,411,812 (GRCm39) |
|
probably benign |
Het |
| Slc30a9 |
A |
G |
5: 67,503,581 (GRCm39) |
|
probably benign |
Het |
| Slc44a2 |
A |
G |
9: 21,263,782 (GRCm39) |
Y650C |
probably damaging |
Het |
| Sv2a |
A |
T |
3: 96,095,525 (GRCm39) |
Y306F |
probably benign |
Het |
| Tmem50a |
T |
C |
4: 134,625,758 (GRCm39) |
E153G |
probably damaging |
Het |
| Tor1a |
A |
G |
2: 30,853,715 (GRCm39) |
|
probably null |
Het |
| Trarg1 |
G |
A |
11: 76,571,292 (GRCm39) |
V103I |
probably benign |
Het |
| Usp20 |
A |
G |
2: 30,907,175 (GRCm39) |
E594G |
probably benign |
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 |
|
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 |
|
R6491:Phc1
|
UTSW |
6 |
122,311,923 (GRCm39) |
|
|
|
|
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 |
|
| Posted On |
2014-02-04 |
Incidental Mutation