Incidental Mutation 'R5656:Phc3'
ID |
442306 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Phc3
|
Ensembl Gene |
ENSMUSG00000037652 |
Gene Name |
polyhomeotic 3 |
Synonyms |
HPH3, EDR3, E030046K01Rik |
MMRRC Submission |
043302-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5656 (G1)
|
Quality Score |
197 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
30899371-30969415 bp(-) (GRCm38) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 30965866 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Arginine
at position 28
(S28R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000065617
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046624]
[ENSMUST00000064718]
[ENSMUST00000099163]
[ENSMUST00000108255]
[ENSMUST00000129817]
[ENSMUST00000152357]
[ENSMUST00000168645]
[ENSMUST00000177992]
|
AlphaFold |
Q8CHP6 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000046624
AA Change: S28R
PolyPhen 2
Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000037862 Gene: ENSMUSG00000037652 AA Change: S28R
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: S28R
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000065617 Gene: ENSMUSG00000037652 AA Change: S28R
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 benign
Transcript: ENSMUST00000099163
AA Change: S28R
PolyPhen 2
Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000096767 Gene: ENSMUSG00000037652 AA Change: S28R
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
|
300 |
326 |
N/A |
INTRINSIC |
low complexity region
|
360 |
386 |
N/A |
INTRINSIC |
low complexity region
|
479 |
505 |
N/A |
INTRINSIC |
low complexity region
|
531 |
545 |
N/A |
INTRINSIC |
low complexity region
|
550 |
580 |
N/A |
INTRINSIC |
low complexity region
|
619 |
627 |
N/A |
INTRINSIC |
low complexity region
|
637 |
665 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000108255
AA Change: S16R
PolyPhen 2
Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000103890 Gene: ENSMUSG00000037652 AA Change: S16R
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 |
possibly damaging
Transcript: ENSMUST00000129817
AA Change: S16R
PolyPhen 2
Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000114916 Gene: ENSMUSG00000037652 AA Change: S16R
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 |
noncoding transcript
Transcript: ENSMUST00000150939
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000152357
AA Change: S28R
PolyPhen 2
Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000117614 Gene: ENSMUSG00000037652 AA Change: S28R
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 |
possibly damaging
Transcript: ENSMUST00000168645
AA Change: S16R
PolyPhen 2
Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000130142 Gene: ENSMUSG00000037652 AA Change: S16R
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 |
possibly damaging
Transcript: ENSMUST00000177992
AA Change: S16R
PolyPhen 2
Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000136820 Gene: ENSMUSG00000037652 AA Change: S16R
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 |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933405L10Rik |
A |
G |
8: 105,709,512 |
S139G |
probably benign |
Het |
Adrb3 |
T |
C |
8: 27,227,377 |
D348G |
probably damaging |
Het |
Atg2b |
A |
G |
12: 105,621,328 |
V1959A |
probably benign |
Het |
Bicral |
G |
A |
17: 46,808,369 |
T742M |
probably damaging |
Het |
Bub1b |
T |
A |
2: 118,605,431 |
I60N |
probably damaging |
Het |
Ccdc162 |
A |
G |
10: 41,569,934 |
V414A |
probably benign |
Het |
Cd22 |
T |
G |
7: 30,869,773 |
Y612S |
probably damaging |
Het |
Cd68 |
T |
A |
11: 69,664,421 |
I320F |
probably damaging |
Het |
Clca3a2 |
A |
T |
3: 144,797,632 |
N852K |
probably benign |
Het |
Cpa6 |
T |
A |
1: 10,329,514 |
H363L |
probably benign |
Het |
Ddx18 |
A |
T |
1: 121,561,358 |
L320Q |
probably damaging |
Het |
Dnah5 |
A |
G |
15: 28,421,064 |
D3849G |
probably benign |
Het |
Eci1 |
T |
A |
17: 24,437,309 |
N164K |
probably damaging |
Het |
Efs |
T |
C |
14: 54,917,127 |
T552A |
probably damaging |
Het |
Fbp1 |
C |
A |
13: 62,875,196 |
V96L |
probably damaging |
Het |
Gtf3c1 |
T |
A |
7: 125,662,654 |
N1139I |
probably benign |
Het |
Gucy1b2 |
T |
C |
14: 62,422,981 |
Y152C |
probably damaging |
Het |
Gxylt1 |
A |
T |
15: 93,245,661 |
L362Q |
probably damaging |
Het |
Iqcd |
A |
G |
5: 120,605,126 |
|
probably null |
Het |
Klhl41 |
T |
A |
2: 69,683,532 |
I585N |
possibly damaging |
Het |
Map6 |
A |
G |
7: 99,336,298 |
K470E |
probably damaging |
Het |
Mast3 |
T |
C |
8: 70,786,221 |
T496A |
probably damaging |
Het |
Mbd6 |
A |
T |
10: 127,285,286 |
|
probably benign |
Het |
Melk |
A |
G |
4: 44,312,237 |
K183R |
possibly damaging |
Het |
Mta1 |
T |
C |
12: 113,123,139 |
V152A |
probably damaging |
Het |
Naa35 |
G |
A |
13: 59,622,866 |
|
probably benign |
Het |
Nav3 |
A |
C |
10: 109,764,633 |
S1378A |
probably damaging |
Het |
Ncapd3 |
T |
A |
9: 27,051,645 |
D415E |
possibly damaging |
Het |
Nlrp4f |
G |
A |
13: 65,190,871 |
R651* |
probably null |
Het |
Olfr1480 |
A |
G |
19: 13,530,380 |
T280A |
probably benign |
Het |
Olfr397 |
T |
A |
11: 73,964,710 |
M34K |
probably damaging |
Het |
Olfr497 |
A |
G |
7: 108,422,618 |
I16V |
probably benign |
Het |
P2rx7 |
A |
T |
5: 122,673,717 |
R364W |
probably damaging |
Het |
Phactr2 |
T |
C |
10: 13,388,703 |
D2G |
probably benign |
Het |
Ppfia1 |
A |
T |
7: 144,519,974 |
|
probably null |
Het |
Prdm10 |
C |
T |
9: 31,353,417 |
T667M |
probably benign |
Het |
Pwwp2b |
T |
A |
7: 139,255,971 |
S443T |
possibly damaging |
Het |
Pzp |
T |
C |
6: 128,490,072 |
T1113A |
probably damaging |
Het |
Rapgef6 |
A |
G |
11: 54,636,136 |
E551G |
possibly damaging |
Het |
Sec23ip |
A |
G |
7: 128,776,784 |
Y774C |
probably damaging |
Het |
Setdb2 |
T |
C |
14: 59,419,118 |
D266G |
probably damaging |
Het |
Shank1 |
T |
C |
7: 44,352,886 |
V1343A |
probably benign |
Het |
Slf2 |
T |
A |
19: 44,973,235 |
D1064E |
probably benign |
Het |
Slu7 |
A |
G |
11: 43,443,418 |
K424E |
probably benign |
Het |
Smg1 |
A |
T |
7: 118,154,664 |
|
probably benign |
Het |
Sptlc2 |
A |
T |
12: 87,346,761 |
L264Q |
probably damaging |
Het |
Sra1 |
A |
G |
18: 36,678,407 |
S93P |
probably damaging |
Het |
Sult1c1 |
T |
C |
17: 53,964,652 |
E169G |
probably benign |
Het |
Sv2a |
A |
G |
3: 96,185,572 |
D196G |
probably damaging |
Het |
Tbc1d22b |
A |
G |
17: 29,594,780 |
I362M |
probably damaging |
Het |
Tenm3 |
T |
C |
8: 48,228,762 |
D2611G |
probably damaging |
Het |
Tmem43 |
T |
C |
6: 91,480,708 |
F191L |
probably benign |
Het |
Trbv13-2 |
T |
A |
6: 41,121,694 |
Y68N |
probably benign |
Het |
Ttn |
T |
G |
2: 76,774,654 |
D18312A |
possibly damaging |
Het |
Ublcp1 |
A |
G |
11: 44,465,606 |
V95A |
probably damaging |
Het |
Usp17ld |
A |
G |
7: 103,250,840 |
V295A |
probably damaging |
Het |
Vmn1r29 |
T |
A |
6: 58,308,167 |
L291M |
possibly damaging |
Het |
Vsig10l |
C |
T |
7: 43,464,151 |
R176* |
probably null |
Het |
Zbtb46 |
A |
G |
2: 181,423,417 |
|
probably null |
Het |
Zfp644 |
A |
G |
5: 106,637,982 |
V233A |
probably benign |
Het |
|
Other mutations in Phc3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00924:Phc3
|
APN |
3 |
30,936,475 (GRCm38) |
missense |
probably damaging |
0.98 |
IGL00985:Phc3
|
APN |
3 |
30,914,197 (GRCm38) |
missense |
probably benign |
0.13 |
IGL01340:Phc3
|
APN |
3 |
30,929,884 (GRCm38) |
missense |
possibly damaging |
0.85 |
IGL01450:Phc3
|
APN |
3 |
30,914,504 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL01546:Phc3
|
APN |
3 |
30,961,739 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL01918:Phc3
|
APN |
3 |
30,914,416 (GRCm38) |
critical splice donor site |
probably null |
|
IGL02178:Phc3
|
APN |
3 |
30,929,863 (GRCm38) |
missense |
possibly damaging |
0.47 |
IGL02210:Phc3
|
APN |
3 |
30,936,709 (GRCm38) |
missense |
probably damaging |
0.99 |
IGL02330:Phc3
|
APN |
3 |
30,936,381 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL02516:Phc3
|
APN |
3 |
30,948,793 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL03030:Phc3
|
APN |
3 |
30,936,853 (GRCm38) |
missense |
probably damaging |
1.00 |
See_saw
|
UTSW |
3 |
30,937,049 (GRCm38) |
nonsense |
probably null |
|
R1228:Phc3
|
UTSW |
3 |
30,922,255 (GRCm38) |
missense |
possibly damaging |
0.71 |
R1239:Phc3
|
UTSW |
3 |
30,914,130 (GRCm38) |
missense |
probably damaging |
1.00 |
R1319:Phc3
|
UTSW |
3 |
30,929,869 (GRCm38) |
missense |
probably damaging |
0.97 |
R1521:Phc3
|
UTSW |
3 |
30,936,575 (GRCm38) |
missense |
possibly damaging |
0.89 |
R1772:Phc3
|
UTSW |
3 |
30,961,820 (GRCm38) |
missense |
probably damaging |
1.00 |
R1793:Phc3
|
UTSW |
3 |
30,948,716 (GRCm38) |
missense |
probably damaging |
1.00 |
R1879:Phc3
|
UTSW |
3 |
30,914,458 (GRCm38) |
missense |
probably damaging |
1.00 |
R2171:Phc3
|
UTSW |
3 |
30,950,929 (GRCm38) |
missense |
probably damaging |
1.00 |
R2419:Phc3
|
UTSW |
3 |
30,950,878 (GRCm38) |
missense |
probably damaging |
0.99 |
R2863:Phc3
|
UTSW |
3 |
30,914,128 (GRCm38) |
missense |
probably damaging |
0.99 |
R2864:Phc3
|
UTSW |
3 |
30,914,128 (GRCm38) |
missense |
probably damaging |
0.99 |
R3700:Phc3
|
UTSW |
3 |
30,914,128 (GRCm38) |
missense |
probably damaging |
1.00 |
R3980:Phc3
|
UTSW |
3 |
30,936,931 (GRCm38) |
missense |
probably damaging |
0.99 |
R4222:Phc3
|
UTSW |
3 |
30,936,819 (GRCm38) |
missense |
probably damaging |
1.00 |
R4223:Phc3
|
UTSW |
3 |
30,936,819 (GRCm38) |
missense |
probably damaging |
1.00 |
R4584:Phc3
|
UTSW |
3 |
30,965,882 (GRCm38) |
missense |
possibly damaging |
0.46 |
R4928:Phc3
|
UTSW |
3 |
30,950,919 (GRCm38) |
missense |
probably damaging |
1.00 |
R5100:Phc3
|
UTSW |
3 |
30,922,199 (GRCm38) |
missense |
possibly damaging |
0.71 |
R5340:Phc3
|
UTSW |
3 |
30,907,467 (GRCm38) |
missense |
probably damaging |
1.00 |
R5840:Phc3
|
UTSW |
3 |
30,936,583 (GRCm38) |
missense |
possibly damaging |
0.95 |
R6022:Phc3
|
UTSW |
3 |
30,930,025 (GRCm38) |
missense |
probably damaging |
1.00 |
R6061:Phc3
|
UTSW |
3 |
30,914,529 (GRCm38) |
missense |
probably damaging |
1.00 |
R6177:Phc3
|
UTSW |
3 |
30,942,565 (GRCm38) |
missense |
probably damaging |
1.00 |
R6188:Phc3
|
UTSW |
3 |
30,937,049 (GRCm38) |
nonsense |
probably null |
|
R6866:Phc3
|
UTSW |
3 |
30,914,531 (GRCm38) |
nonsense |
probably null |
|
R6870:Phc3
|
UTSW |
3 |
30,936,761 (GRCm38) |
missense |
probably damaging |
1.00 |
R7155:Phc3
|
UTSW |
3 |
30,914,197 (GRCm38) |
missense |
probably benign |
0.01 |
R7603:Phc3
|
UTSW |
3 |
30,907,452 (GRCm38) |
missense |
probably damaging |
0.97 |
R7874:Phc3
|
UTSW |
3 |
30,936,714 (GRCm38) |
missense |
probably benign |
0.00 |
R8422:Phc3
|
UTSW |
3 |
30,929,890 (GRCm38) |
nonsense |
probably null |
|
R8877:Phc3
|
UTSW |
3 |
30,914,122 (GRCm38) |
missense |
probably damaging |
1.00 |
R8972:Phc3
|
UTSW |
3 |
30,961,777 (GRCm38) |
missense |
possibly damaging |
0.95 |
R9003:Phc3
|
UTSW |
3 |
30,965,858 (GRCm38) |
missense |
possibly damaging |
0.86 |
R9042:Phc3
|
UTSW |
3 |
30,929,767 (GRCm38) |
missense |
unknown |
|
R9155:Phc3
|
UTSW |
3 |
30,914,542 (GRCm38) |
missense |
probably benign |
0.01 |
R9168:Phc3
|
UTSW |
3 |
30,907,395 (GRCm38) |
missense |
probably benign |
|
X0025:Phc3
|
UTSW |
3 |
30,965,886 (GRCm38) |
missense |
probably damaging |
0.96 |
Z1176:Phc3
|
UTSW |
3 |
30,936,597 (GRCm38) |
missense |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- AACACAGACAGCTGACGTGG -3'
(R):5'- AGGCCTTCCTAGAAATTTAGGCTC -3'
Sequencing Primer
(F):5'- CGTGGGCACAACAGTATGC -3'
(R):5'- CCACCCCCTGAAATTTTGGG -3'
|
Posted On |
2016-11-09 |