Incidental Mutation 'IGL01450:Phc3'
| ID |
84608 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Phc3
|
| Ensembl Gene |
ENSMUSG00000037652 |
| Gene Name |
polyhomeotic 3 |
| Synonyms |
EDR3, E030046K01Rik, HPH3 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01450
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
30953520-31023564 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 30968653 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 825
(R825C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130142
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046624]
[ENSMUST00000064718]
[ENSMUST00000108255]
[ENSMUST00000129817]
[ENSMUST00000152357]
[ENSMUST00000168645]
[ENSMUST00000177992]
|
| AlphaFold |
Q8CHP6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000046624
|
| SMART Domains |
Protein: ENSMUSP00000037862
Gene: ENSMUSG00000037652
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
18 |
40 |
N/A |
INTRINSIC |
|
low complexity region
|
72 |
89 |
N/A |
INTRINSIC |
|
low complexity region
|
92 |
142 |
N/A |
INTRINSIC |
|
low complexity region
|
152 |
166 |
N/A |
INTRINSIC |
|
low complexity region
|
206 |
224 |
N/A |
INTRINSIC |
|
low complexity region
|
333 |
359 |
N/A |
INTRINSIC |
|
low complexity region
|
393 |
419 |
N/A |
INTRINSIC |
|
low complexity region
|
512 |
538 |
N/A |
INTRINSIC |
|
low complexity region
|
564 |
578 |
N/A |
INTRINSIC |
|
low complexity region
|
583 |
594 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000064718
AA Change: R795C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000065617
Gene: ENSMUSG00000037652
AA Change: R795C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
18 |
40 |
N/A |
INTRINSIC |
|
low complexity region
|
72 |
89 |
N/A |
INTRINSIC |
|
low complexity region
|
92 |
142 |
N/A |
INTRINSIC |
|
low complexity region
|
152 |
166 |
N/A |
INTRINSIC |
|
low complexity region
|
206 |
224 |
N/A |
INTRINSIC |
|
low complexity region
|
333 |
359 |
N/A |
INTRINSIC |
|
low complexity region
|
393 |
419 |
N/A |
INTRINSIC |
|
low complexity region
|
470 |
496 |
N/A |
INTRINSIC |
|
low complexity region
|
522 |
536 |
N/A |
INTRINSIC |
|
low complexity region
|
541 |
571 |
N/A |
INTRINSIC |
|
low complexity region
|
610 |
618 |
N/A |
INTRINSIC |
|
low complexity region
|
628 |
656 |
N/A |
INTRINSIC |
|
PDB:2L8E|A
|
745 |
781 |
1e-8 |
PDB |
|
low complexity region
|
849 |
868 |
N/A |
INTRINSIC |
|
SAM
|
884 |
951 |
4.04e-13 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108255
AA Change: R792C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000103890
Gene: ENSMUSG00000037652
AA Change: R792C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
28 |
N/A |
INTRINSIC |
|
low complexity region
|
60 |
77 |
N/A |
INTRINSIC |
|
low complexity region
|
80 |
130 |
N/A |
INTRINSIC |
|
low complexity region
|
140 |
154 |
N/A |
INTRINSIC |
|
low complexity region
|
288 |
314 |
N/A |
INTRINSIC |
|
low complexity region
|
348 |
374 |
N/A |
INTRINSIC |
|
low complexity region
|
467 |
493 |
N/A |
INTRINSIC |
|
low complexity region
|
519 |
533 |
N/A |
INTRINSIC |
|
low complexity region
|
538 |
568 |
N/A |
INTRINSIC |
|
low complexity region
|
607 |
615 |
N/A |
INTRINSIC |
|
low complexity region
|
625 |
653 |
N/A |
INTRINSIC |
|
PDB:2L8E|A
|
742 |
778 |
8e-9 |
PDB |
|
low complexity region
|
846 |
865 |
N/A |
INTRINSIC |
|
SAM
|
881 |
948 |
4.04e-13 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000129817
AA Change: R825C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000114916
Gene: ENSMUSG00000037652
AA Change: R825C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
28 |
N/A |
INTRINSIC |
|
low complexity region
|
60 |
77 |
N/A |
INTRINSIC |
|
low complexity region
|
80 |
130 |
N/A |
INTRINSIC |
|
low complexity region
|
140 |
154 |
N/A |
INTRINSIC |
|
low complexity region
|
194 |
212 |
N/A |
INTRINSIC |
|
low complexity region
|
321 |
347 |
N/A |
INTRINSIC |
|
low complexity region
|
381 |
407 |
N/A |
INTRINSIC |
|
low complexity region
|
500 |
526 |
N/A |
INTRINSIC |
|
low complexity region
|
552 |
566 |
N/A |
INTRINSIC |
|
low complexity region
|
571 |
601 |
N/A |
INTRINSIC |
|
low complexity region
|
640 |
648 |
N/A |
INTRINSIC |
|
low complexity region
|
658 |
686 |
N/A |
INTRINSIC |
|
PDB:2L8E|A
|
775 |
811 |
7e-9 |
PDB |
|
low complexity region
|
879 |
898 |
N/A |
INTRINSIC |
|
SAM
|
914 |
980 |
1.7e-11 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152357
|
| SMART Domains |
Protein: ENSMUSP00000117614
Gene: ENSMUSG00000037652
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
18 |
40 |
N/A |
INTRINSIC |
|
low complexity region
|
72 |
89 |
N/A |
INTRINSIC |
|
low complexity region
|
92 |
142 |
N/A |
INTRINSIC |
|
low complexity region
|
152 |
166 |
N/A |
INTRINSIC |
|
low complexity region
|
201 |
222 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000168645
AA Change: R825C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000130142
Gene: ENSMUSG00000037652
AA Change: R825C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
28 |
N/A |
INTRINSIC |
|
low complexity region
|
60 |
77 |
N/A |
INTRINSIC |
|
low complexity region
|
80 |
130 |
N/A |
INTRINSIC |
|
low complexity region
|
140 |
154 |
N/A |
INTRINSIC |
|
low complexity region
|
194 |
212 |
N/A |
INTRINSIC |
|
low complexity region
|
321 |
347 |
N/A |
INTRINSIC |
|
low complexity region
|
381 |
407 |
N/A |
INTRINSIC |
|
low complexity region
|
500 |
526 |
N/A |
INTRINSIC |
|
low complexity region
|
552 |
566 |
N/A |
INTRINSIC |
|
low complexity region
|
571 |
601 |
N/A |
INTRINSIC |
|
low complexity region
|
640 |
648 |
N/A |
INTRINSIC |
|
low complexity region
|
658 |
686 |
N/A |
INTRINSIC |
|
PDB:2L8E|A
|
775 |
811 |
7e-9 |
PDB |
|
low complexity region
|
879 |
898 |
N/A |
INTRINSIC |
|
SAM
|
914 |
980 |
1.6e-11 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000177992
AA Change: R792C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000136820
Gene: ENSMUSG00000037652
AA Change: R792C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
28 |
N/A |
INTRINSIC |
|
low complexity region
|
60 |
77 |
N/A |
INTRINSIC |
|
low complexity region
|
80 |
130 |
N/A |
INTRINSIC |
|
low complexity region
|
140 |
154 |
N/A |
INTRINSIC |
|
low complexity region
|
288 |
314 |
N/A |
INTRINSIC |
|
low complexity region
|
348 |
374 |
N/A |
INTRINSIC |
|
low complexity region
|
467 |
493 |
N/A |
INTRINSIC |
|
low complexity region
|
519 |
533 |
N/A |
INTRINSIC |
|
low complexity region
|
538 |
568 |
N/A |
INTRINSIC |
|
low complexity region
|
607 |
615 |
N/A |
INTRINSIC |
|
low complexity region
|
625 |
653 |
N/A |
INTRINSIC |
|
PDB:2L8E|A
|
742 |
778 |
8e-9 |
PDB |
|
low complexity region
|
846 |
865 |
N/A |
INTRINSIC |
|
SAM
|
881 |
948 |
4.04e-13 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acod1 |
G |
A |
14: 103,288,919 (GRCm39) |
R143Q |
possibly damaging |
Het |
| Adh4 |
T |
A |
3: 138,129,794 (GRCm39) |
C207S |
probably benign |
Het |
| Akap8 |
C |
A |
17: 32,534,661 (GRCm39) |
R317L |
probably damaging |
Het |
| Aptx |
T |
C |
4: 40,688,133 (GRCm39) |
T182A |
probably damaging |
Het |
| Ccar2 |
A |
T |
14: 70,377,200 (GRCm39) |
|
probably benign |
Het |
| Cd300ld2 |
T |
A |
11: 114,903,369 (GRCm39) |
|
probably benign |
Het |
| Cgnl1 |
T |
C |
9: 71,539,144 (GRCm39) |
|
probably benign |
Het |
| Cubn |
A |
G |
2: 13,355,673 (GRCm39) |
|
probably benign |
Het |
| Cyp2j5 |
T |
A |
4: 96,546,927 (GRCm39) |
T196S |
probably damaging |
Het |
| Dctn1 |
T |
C |
6: 83,171,092 (GRCm39) |
|
probably benign |
Het |
| Dync2li1 |
A |
T |
17: 84,940,984 (GRCm39) |
T67S |
possibly damaging |
Het |
| Fetub |
A |
G |
16: 22,747,986 (GRCm39) |
N54S |
probably benign |
Het |
| Gpld1 |
T |
C |
13: 25,163,664 (GRCm39) |
Y486H |
probably damaging |
Het |
| Grb10 |
T |
A |
11: 11,920,432 (GRCm39) |
H62L |
probably damaging |
Het |
| H6pd |
T |
G |
4: 150,068,575 (GRCm39) |
H264P |
probably damaging |
Het |
| Lmtk2 |
T |
C |
5: 144,111,520 (GRCm39) |
S747P |
probably benign |
Het |
| Mtcl3 |
T |
A |
10: 29,072,319 (GRCm39) |
M537K |
probably damaging |
Het |
| Nkpd1 |
T |
C |
7: 19,257,550 (GRCm39) |
F293S |
probably damaging |
Het |
| Or1j15 |
T |
A |
2: 36,458,754 (GRCm39) |
L48H |
probably damaging |
Het |
| Osbpl1a |
A |
C |
18: 13,004,152 (GRCm39) |
F422V |
possibly damaging |
Het |
| Pclo |
A |
T |
5: 14,727,207 (GRCm39) |
|
probably benign |
Het |
| Plk2 |
G |
A |
13: 110,532,858 (GRCm39) |
V140M |
probably damaging |
Het |
| Racgap1 |
A |
G |
15: 99,524,244 (GRCm39) |
S388P |
probably benign |
Het |
| Rap1gds1 |
A |
T |
3: 138,671,681 (GRCm39) |
N146K |
probably damaging |
Het |
| Rgs7 |
C |
T |
1: 174,913,746 (GRCm39) |
V1M |
probably benign |
Het |
| Rps6ka5 |
A |
T |
12: 100,519,250 (GRCm39) |
|
probably benign |
Het |
| Scn4a |
A |
G |
11: 106,215,487 (GRCm39) |
I1163T |
probably damaging |
Het |
| Selenop |
C |
T |
15: 3,306,755 (GRCm39) |
T178M |
probably benign |
Het |
| Shank2 |
G |
T |
7: 143,838,805 (GRCm39) |
E680* |
probably null |
Het |
| Sipa1l2 |
A |
C |
8: 126,149,316 (GRCm39) |
|
probably null |
Het |
| Slc14a2 |
T |
C |
18: 78,226,745 (GRCm39) |
T437A |
probably damaging |
Het |
| Smarcc2 |
C |
T |
10: 128,305,189 (GRCm39) |
P307S |
probably damaging |
Het |
| Sptb |
C |
A |
12: 76,671,014 (GRCm39) |
R443L |
possibly damaging |
Het |
| Stpg3 |
T |
C |
2: 25,104,622 (GRCm39) |
|
probably benign |
Het |
| Tinag |
T |
A |
9: 76,952,858 (GRCm39) |
E42V |
possibly damaging |
Het |
| Topors |
C |
A |
4: 40,262,417 (GRCm39) |
R289L |
probably damaging |
Het |
| Ubash3a |
C |
A |
17: 31,427,205 (GRCm39) |
A38E |
probably damaging |
Het |
| Vmn2r121 |
T |
A |
X: 123,040,888 (GRCm39) |
Y481F |
possibly damaging |
Het |
| Vps54 |
A |
T |
11: 21,241,135 (GRCm39) |
E359D |
probably benign |
Het |
| Xkr6 |
G |
A |
14: 64,035,664 (GRCm39) |
R255H |
probably damaging |
Het |
| Zfp750 |
C |
T |
11: 121,403,855 (GRCm39) |
R340H |
probably benign |
Het |
|
| Other mutations in Phc3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00924:Phc3
|
APN |
3 |
30,990,624 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL00985:Phc3
|
APN |
3 |
30,968,346 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL01340:Phc3
|
APN |
3 |
30,984,033 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
IGL01546:Phc3
|
APN |
3 |
31,015,888 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01918:Phc3
|
APN |
3 |
30,968,565 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02178:Phc3
|
APN |
3 |
30,984,012 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
IGL02210:Phc3
|
APN |
3 |
30,990,858 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02330:Phc3
|
APN |
3 |
30,990,530 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02516:Phc3
|
APN |
3 |
31,002,942 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03030:Phc3
|
APN |
3 |
30,991,002 (GRCm39) |
missense |
probably damaging |
1.00 |
|
See_saw
|
UTSW |
3 |
30,991,198 (GRCm39) |
nonsense |
probably null |
|
|
R1228:Phc3
|
UTSW |
3 |
30,976,404 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R1239:Phc3
|
UTSW |
3 |
30,968,279 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1319:Phc3
|
UTSW |
3 |
30,984,018 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1521:Phc3
|
UTSW |
3 |
30,990,724 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1772:Phc3
|
UTSW |
3 |
31,015,969 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1793:Phc3
|
UTSW |
3 |
31,002,865 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1879:Phc3
|
UTSW |
3 |
30,968,607 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2171:Phc3
|
UTSW |
3 |
31,005,078 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2419:Phc3
|
UTSW |
3 |
31,005,027 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2863:Phc3
|
UTSW |
3 |
30,968,277 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2864:Phc3
|
UTSW |
3 |
30,968,277 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3700:Phc3
|
UTSW |
3 |
30,968,277 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3980:Phc3
|
UTSW |
3 |
30,991,080 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4222:Phc3
|
UTSW |
3 |
30,990,968 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4223:Phc3
|
UTSW |
3 |
30,990,968 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4584:Phc3
|
UTSW |
3 |
31,020,031 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R4928:Phc3
|
UTSW |
3 |
31,005,068 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5100:Phc3
|
UTSW |
3 |
30,976,348 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R5340:Phc3
|
UTSW |
3 |
30,961,616 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5656:Phc3
|
UTSW |
3 |
31,020,015 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5840:Phc3
|
UTSW |
3 |
30,990,732 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6022:Phc3
|
UTSW |
3 |
30,984,174 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6061:Phc3
|
UTSW |
3 |
30,968,678 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6177:Phc3
|
UTSW |
3 |
30,996,714 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6188:Phc3
|
UTSW |
3 |
30,991,198 (GRCm39) |
nonsense |
probably null |
|
|
R6866:Phc3
|
UTSW |
3 |
30,968,680 (GRCm39) |
nonsense |
probably null |
|
|
R6870:Phc3
|
UTSW |
3 |
30,990,910 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7155:Phc3
|
UTSW |
3 |
30,968,346 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7603:Phc3
|
UTSW |
3 |
30,961,601 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7874:Phc3
|
UTSW |
3 |
30,990,863 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8422:Phc3
|
UTSW |
3 |
30,984,039 (GRCm39) |
nonsense |
probably null |
|
|
R8877:Phc3
|
UTSW |
3 |
30,968,271 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8972:Phc3
|
UTSW |
3 |
31,015,926 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9003:Phc3
|
UTSW |
3 |
31,020,007 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R9042:Phc3
|
UTSW |
3 |
30,983,916 (GRCm39) |
missense |
unknown |
|
|
R9155:Phc3
|
UTSW |
3 |
30,968,691 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9168:Phc3
|
UTSW |
3 |
30,961,544 (GRCm39) |
missense |
probably benign |
|
|
X0025:Phc3
|
UTSW |
3 |
31,020,035 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Z1176:Phc3
|
UTSW |
3 |
30,990,746 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2013-11-11 |
Incidental Mutation