Incidental Mutation 'R4222:Phc3'
ID |
319384 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Phc3
|
Ensembl Gene |
ENSMUSG00000037652 |
Gene Name |
polyhomeotic 3 |
Synonyms |
EDR3, E030046K01Rik, HPH3 |
MMRRC Submission |
041042-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4222 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
30953520-31023564 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 30990968 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Arginine
at position 383
(S383R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000096767
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046624]
[ENSMUST00000064718]
[ENSMUST00000099163]
[ENSMUST00000108255]
[ENSMUST00000129817]
[ENSMUST00000152357]
[ENSMUST00000168645]
[ENSMUST00000177992]
|
AlphaFold |
Q8CHP6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000046624
AA Change: S416R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000037862 Gene: ENSMUSG00000037652 AA Change: S416R
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: S416R
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000065617 Gene: ENSMUSG00000037652 AA Change: S416R
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: ENSMUST00000099163
AA Change: S383R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000096767 Gene: ENSMUSG00000037652 AA Change: S383R
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 |
probably damaging
Transcript: ENSMUST00000108255
AA Change: S371R
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000103890 Gene: ENSMUSG00000037652 AA Change: S371R
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 |
noncoding transcript
Transcript: ENSMUST00000124472
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000129817
AA Change: S404R
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000114916 Gene: ENSMUSG00000037652 AA Change: S404R
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: S404R
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000130142 Gene: ENSMUSG00000037652 AA Change: S404R
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: S371R
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000136820 Gene: ENSMUSG00000037652 AA Change: S371R
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 |
|
Meta Mutation Damage Score |
0.0722 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 95.3%
|
Validation Efficiency |
91% (49/54) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgre4 |
A |
G |
17: 56,092,121 (GRCm39) |
Y127C |
probably damaging |
Het |
Aif1l |
A |
T |
2: 31,852,251 (GRCm39) |
S40C |
probably damaging |
Het |
Alkal1 |
A |
G |
1: 6,458,839 (GRCm39) |
K76R |
probably damaging |
Het |
Atm |
T |
C |
9: 53,391,969 (GRCm39) |
S1807G |
probably benign |
Het |
Bhmt-ps1 |
T |
A |
4: 26,369,352 (GRCm39) |
|
noncoding transcript |
Het |
Brd10 |
A |
T |
19: 29,696,149 (GRCm39) |
S1115T |
probably benign |
Het |
Cyp3a11 |
A |
T |
5: 145,797,276 (GRCm39) |
Y368N |
probably damaging |
Het |
Gar1 |
A |
T |
3: 129,624,455 (GRCm39) |
|
probably benign |
Het |
Gm5265 |
A |
T |
1: 169,281,370 (GRCm39) |
|
noncoding transcript |
Het |
Gm7964 |
T |
G |
7: 83,406,030 (GRCm39) |
N281K |
probably damaging |
Het |
Grin1 |
T |
C |
2: 25,187,332 (GRCm39) |
|
probably benign |
Het |
H1f5 |
A |
T |
13: 21,964,147 (GRCm39) |
|
probably benign |
Het |
Hapln4 |
T |
A |
8: 70,539,610 (GRCm39) |
W214R |
probably damaging |
Het |
Ift56 |
A |
G |
6: 38,372,010 (GRCm39) |
Y200C |
probably damaging |
Het |
Irgq |
C |
A |
7: 24,233,050 (GRCm39) |
A297D |
possibly damaging |
Het |
Kri1 |
T |
C |
9: 21,192,359 (GRCm39) |
E145G |
probably benign |
Het |
Lama3 |
T |
C |
18: 12,583,460 (GRCm39) |
C683R |
probably damaging |
Het |
Mrpl22 |
T |
A |
11: 58,062,693 (GRCm39) |
|
probably benign |
Het |
Myo7a |
T |
A |
7: 97,722,436 (GRCm39) |
Q1163L |
possibly damaging |
Het |
Nipsnap3a |
T |
A |
4: 52,997,251 (GRCm39) |
D172E |
probably benign |
Het |
Nrxn3 |
G |
T |
12: 89,499,762 (GRCm39) |
G718* |
probably null |
Het |
Olfm3 |
C |
T |
3: 114,883,820 (GRCm39) |
Q41* |
probably null |
Het |
Or52z12 |
A |
G |
7: 103,233,966 (GRCm39) |
T246A |
probably damaging |
Het |
Or8u8 |
G |
T |
2: 86,012,341 (GRCm39) |
T38K |
probably damaging |
Het |
Parm1 |
G |
A |
5: 91,741,726 (GRCm39) |
M31I |
probably benign |
Het |
Pkn2 |
A |
T |
3: 142,499,627 (GRCm39) |
L950* |
probably null |
Het |
Plec |
C |
T |
15: 76,061,519 (GRCm39) |
R2671H |
probably damaging |
Het |
Ptbp1 |
T |
C |
10: 79,695,047 (GRCm39) |
I125T |
probably benign |
Het |
Ptch1 |
C |
T |
13: 63,682,143 (GRCm39) |
R537H |
probably damaging |
Het |
Ptk7 |
A |
T |
17: 46,885,389 (GRCm39) |
M679K |
probably benign |
Het |
Ptx3 |
C |
T |
3: 66,132,127 (GRCm39) |
T216I |
probably damaging |
Het |
Rrp8 |
T |
C |
7: 105,383,229 (GRCm39) |
I346V |
possibly damaging |
Het |
Rsrc1 |
A |
G |
3: 66,901,900 (GRCm39) |
K17E |
unknown |
Het |
Ryr2 |
T |
A |
13: 11,752,759 (GRCm39) |
E1854V |
possibly damaging |
Het |
Semp2l2a |
T |
C |
8: 13,888,061 (GRCm39) |
E10G |
probably benign |
Het |
Slc25a45 |
A |
T |
19: 5,930,146 (GRCm39) |
I39F |
probably damaging |
Het |
Spag5 |
G |
A |
11: 78,195,337 (GRCm39) |
V215I |
probably damaging |
Het |
Ston1 |
A |
G |
17: 88,944,199 (GRCm39) |
Y535C |
probably damaging |
Het |
Tbc1d14 |
A |
T |
5: 36,650,452 (GRCm39) |
S395T |
probably benign |
Het |
Tlr11 |
C |
T |
14: 50,599,306 (GRCm39) |
P431S |
probably damaging |
Het |
Trerf1 |
G |
T |
17: 47,625,727 (GRCm39) |
|
noncoding transcript |
Het |
Trim43b |
T |
A |
9: 88,972,692 (GRCm39) |
Q154L |
probably benign |
Het |
Vmn1r49 |
A |
G |
6: 90,049,228 (GRCm39) |
F258S |
probably benign |
Het |
Vmn1r-ps103 |
C |
A |
13: 22,626,198 (GRCm39) |
|
noncoding transcript |
Het |
Vmn2r14 |
A |
G |
5: 109,364,149 (GRCm39) |
M589T |
probably benign |
Het |
Vmn2r60 |
A |
T |
7: 41,765,952 (GRCm39) |
T20S |
probably benign |
Het |
Zbtb5 |
A |
G |
4: 44,993,855 (GRCm39) |
|
probably null |
Het |
Zfp35 |
T |
G |
18: 24,136,246 (GRCm39) |
F197V |
possibly damaging |
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 |
IGL01450:Phc3
|
APN |
3 |
30,968,653 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- CCAATGTGTACAACAGGGGATG -3'
(R):5'- TTCAGCCAATCACCCTTCAGAG -3'
Sequencing Primer
(F):5'- TACAACAGGGGATGCTGGAAGTG -3'
(R):5'- TTCAGAGTCCAAGTCAAGATCC -3'
|
Posted On |
2015-06-10 |