Incidental Mutation 'R6866:Phc3'
ID |
535902 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Phc3
|
Ensembl Gene |
ENSMUSG00000037652 |
Gene Name |
polyhomeotic 3 |
Synonyms |
EDR3, E030046K01Rik, HPH3 |
MMRRC Submission |
044965-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6866 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
30953520-31023564 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 30968680 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Stop codon
at position 783
(K783*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000136820
(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 null
Transcript: ENSMUST00000064718
AA Change: K786*
|
SMART Domains |
Protein: ENSMUSP00000065617 Gene: ENSMUSG00000037652 AA Change: K786*
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 null
Transcript: ENSMUST00000108255
AA Change: K783*
|
SMART Domains |
Protein: ENSMUSP00000103890 Gene: ENSMUSG00000037652 AA Change: K783*
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 null
Transcript: ENSMUST00000129817
AA Change: K816*
|
SMART Domains |
Protein: ENSMUSP00000114916 Gene: ENSMUSG00000037652 AA Change: K816*
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 null
Transcript: ENSMUST00000168645
AA Change: K816*
|
SMART Domains |
Protein: ENSMUSP00000130142 Gene: ENSMUSG00000037652 AA Change: K816*
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 null
Transcript: ENSMUST00000177992
AA Change: K783*
|
SMART Domains |
Protein: ENSMUSP00000136820 Gene: ENSMUSG00000037652 AA Change: K783*
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: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alms1 |
A |
G |
6: 85,598,080 (GRCm39) |
T1438A |
possibly damaging |
Het |
Als2 |
T |
A |
1: 59,250,292 (GRCm39) |
Q484L |
probably damaging |
Het |
Apeh |
G |
A |
9: 107,969,878 (GRCm39) |
H186Y |
probably damaging |
Het |
Bcl2l13 |
T |
A |
6: 120,839,850 (GRCm39) |
N49K |
probably benign |
Het |
Bptf |
T |
C |
11: 106,964,406 (GRCm39) |
D1596G |
probably damaging |
Het |
Brsk1 |
T |
C |
7: 4,709,406 (GRCm39) |
M325T |
probably damaging |
Het |
Caly |
T |
C |
7: 139,650,532 (GRCm39) |
M137V |
probably benign |
Het |
Cdca2 |
T |
C |
14: 67,931,115 (GRCm39) |
E526G |
possibly damaging |
Het |
Cnga4 |
A |
G |
7: 105,056,952 (GRCm39) |
S352G |
possibly damaging |
Het |
Cntnap5c |
A |
C |
17: 58,399,289 (GRCm39) |
T381P |
probably benign |
Het |
Cr2 |
T |
A |
1: 194,833,999 (GRCm39) |
Y633F |
probably damaging |
Het |
Cryba1 |
T |
C |
11: 77,610,355 (GRCm39) |
N120S |
probably benign |
Het |
Cyfip2 |
G |
A |
11: 46,133,286 (GRCm39) |
R805* |
probably null |
Het |
Dnah7c |
C |
A |
1: 46,696,403 (GRCm39) |
P2095Q |
probably damaging |
Het |
Eif3k |
T |
C |
7: 28,676,651 (GRCm39) |
E110G |
possibly damaging |
Het |
Extl2 |
T |
A |
3: 115,821,002 (GRCm39) |
M283K |
probably damaging |
Het |
Extl2 |
A |
G |
3: 115,821,001 (GRCm39) |
M283V |
probably damaging |
Het |
Focad |
T |
C |
4: 88,321,623 (GRCm39) |
I1658T |
probably benign |
Het |
Fstl5 |
A |
T |
3: 76,229,532 (GRCm39) |
H111L |
probably damaging |
Het |
Garnl3 |
A |
G |
2: 32,892,785 (GRCm39) |
|
probably null |
Het |
Gm3633 |
T |
A |
14: 42,462,579 (GRCm39) |
|
probably benign |
Het |
Il4i1 |
T |
A |
7: 44,485,963 (GRCm39) |
|
probably null |
Het |
Kcnj6 |
A |
T |
16: 94,563,536 (GRCm39) |
C321S |
probably damaging |
Het |
Kif20a |
A |
T |
18: 34,761,546 (GRCm39) |
Y313F |
probably benign |
Het |
Kmt2d |
T |
G |
15: 98,755,274 (GRCm39) |
|
probably benign |
Het |
Kynu |
T |
A |
2: 43,453,122 (GRCm39) |
Y48* |
probably null |
Het |
Ly9 |
T |
C |
1: 171,432,847 (GRCm39) |
I55M |
probably damaging |
Het |
Mgme1 |
T |
C |
2: 144,118,439 (GRCm39) |
V237A |
probably damaging |
Het |
Mmp16 |
T |
A |
4: 17,853,800 (GRCm39) |
L27H |
probably benign |
Het |
Mtres1 |
ACTGCACCACCT |
ACT |
10: 43,408,721 (GRCm39) |
|
probably benign |
Het |
Myh1 |
A |
C |
11: 67,115,219 (GRCm39) |
D1918A |
probably damaging |
Het |
Myo5a |
G |
A |
9: 75,047,970 (GRCm39) |
C266Y |
probably damaging |
Het |
Nckap5l |
A |
G |
15: 99,324,349 (GRCm39) |
I718T |
probably benign |
Het |
Nptx1 |
A |
G |
11: 119,437,476 (GRCm39) |
|
probably null |
Het |
Or56a42-ps1 |
T |
A |
7: 104,775,825 (GRCm39) |
M228L |
probably benign |
Het |
Or5k16 |
A |
G |
16: 58,736,351 (GRCm39) |
Y218H |
probably damaging |
Het |
Or5p76 |
A |
G |
7: 108,122,377 (GRCm39) |
F260S |
probably damaging |
Het |
Pkdrej |
A |
T |
15: 85,705,082 (GRCm39) |
C285S |
probably damaging |
Het |
Pot1b |
T |
A |
17: 55,960,474 (GRCm39) |
T619S |
possibly damaging |
Het |
Pramel32 |
T |
A |
4: 88,545,977 (GRCm39) |
D455V |
probably damaging |
Het |
Psg21 |
A |
T |
7: 18,386,209 (GRCm39) |
V259E |
probably damaging |
Het |
Pvr |
A |
C |
7: 19,652,555 (GRCm39) |
I120S |
probably benign |
Het |
Rbm17 |
T |
G |
2: 11,602,901 (GRCm39) |
I68L |
probably benign |
Het |
Rnf138 |
C |
T |
18: 21,135,199 (GRCm39) |
P28L |
probably damaging |
Het |
Rnf207 |
C |
T |
4: 152,396,989 (GRCm39) |
C385Y |
possibly damaging |
Het |
Serping1 |
A |
C |
2: 84,600,577 (GRCm39) |
V255G |
probably benign |
Het |
Slc25a3 |
A |
T |
10: 90,955,567 (GRCm39) |
V91E |
probably damaging |
Het |
Slc26a8 |
T |
C |
17: 28,857,455 (GRCm39) |
D896G |
probably benign |
Het |
Slc27a5 |
T |
A |
7: 12,731,443 (GRCm39) |
T183S |
probably benign |
Het |
Slc33a1 |
A |
T |
3: 63,850,744 (GRCm39) |
F527I |
probably benign |
Het |
Sting1 |
T |
C |
18: 35,872,482 (GRCm39) |
H50R |
probably damaging |
Het |
Strn4 |
A |
T |
7: 16,562,710 (GRCm39) |
D283V |
probably damaging |
Het |
Sult1e1 |
G |
A |
5: 87,734,625 (GRCm39) |
T107I |
probably damaging |
Het |
Tango6 |
G |
A |
8: 107,469,104 (GRCm39) |
|
probably null |
Het |
Tecrl |
G |
T |
5: 83,461,161 (GRCm39) |
P99T |
probably damaging |
Het |
Ticrr |
T |
C |
7: 79,343,705 (GRCm39) |
L1190P |
possibly damaging |
Het |
Timm50 |
C |
T |
7: 28,005,370 (GRCm39) |
R349H |
probably damaging |
Het |
Tjp2 |
A |
G |
19: 24,079,355 (GRCm39) |
I840T |
probably damaging |
Het |
Tmem45a2 |
T |
A |
16: 56,867,386 (GRCm39) |
N105I |
probably damaging |
Het |
Tsbp1 |
T |
A |
17: 34,678,935 (GRCm39) |
C216S |
possibly damaging |
Het |
Zfp148 |
T |
A |
16: 33,288,496 (GRCm39) |
C162S |
probably damaging |
Het |
Zfp534 |
T |
C |
4: 147,758,938 (GRCm39) |
K577R |
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 |
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 |
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 |
|
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'- ACTTCCCTTGCAGTTCTGAAAAG -3'
(R):5'- ATATCATTACCTTGTTAGGGGTGTC -3'
Sequencing Primer
(F):5'- CCCTTGCAGTTCTGAAAAGGACATTG -3'
(R):5'- GATATACACAGGGGTCATTTTTGAC -3'
|
Posted On |
2018-10-18 |