Incidental Mutation 'IGL01918:Phc3'
ID |
180031 |
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 # |
IGL01918
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
30953520-31023564 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to G
at 30968565 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
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
|
SMART Domains |
Protein: ENSMUSP00000065617 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
|
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
|
SMART Domains |
Protein: ENSMUSP00000103890 Gene: ENSMUSG00000037652
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
|
SMART Domains |
Protein: ENSMUSP00000114916 Gene: ENSMUSG00000037652
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
|
SMART Domains |
Protein: ENSMUSP00000130142 Gene: ENSMUSG00000037652
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
|
SMART Domains |
Protein: ENSMUSP00000136820 Gene: ENSMUSG00000037652
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 |
4933421I07Rik |
T |
C |
7: 42,097,098 (GRCm39) |
Q71R |
probably benign |
Het |
Ankfy1 |
T |
C |
11: 72,631,281 (GRCm39) |
V409A |
probably benign |
Het |
Ap4m1 |
A |
G |
5: 138,171,106 (GRCm39) |
T69A |
probably damaging |
Het |
B3gat2 |
A |
T |
1: 23,884,209 (GRCm39) |
K306* |
probably null |
Het |
Calr |
A |
G |
8: 85,569,479 (GRCm39) |
|
probably benign |
Het |
Ccdc54 |
C |
T |
16: 50,411,215 (GRCm39) |
W17* |
probably null |
Het |
Cd68 |
T |
C |
11: 69,555,927 (GRCm39) |
S204G |
possibly damaging |
Het |
Cep128 |
A |
T |
12: 91,200,984 (GRCm39) |
I342K |
probably damaging |
Het |
Ces1d |
T |
A |
8: 93,904,703 (GRCm39) |
I346L |
probably benign |
Het |
Cfap70 |
T |
A |
14: 20,475,467 (GRCm39) |
D418V |
possibly damaging |
Het |
Cntnap4 |
A |
T |
8: 113,478,866 (GRCm39) |
R197S |
possibly damaging |
Het |
Ddx31 |
G |
T |
2: 28,764,176 (GRCm39) |
V461F |
probably damaging |
Het |
Eps15l1 |
T |
C |
8: 73,121,756 (GRCm39) |
M714V |
possibly damaging |
Het |
Fshb |
A |
T |
2: 106,889,272 (GRCm39) |
F11I |
probably benign |
Het |
Fsip2 |
T |
G |
2: 82,822,482 (GRCm39) |
C6072G |
possibly damaging |
Het |
Fuz |
T |
G |
7: 44,546,383 (GRCm39) |
L93R |
probably damaging |
Het |
Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
Gm8991 |
G |
A |
5: 16,935,678 (GRCm39) |
|
noncoding transcript |
Het |
Itga11 |
C |
A |
9: 62,680,278 (GRCm39) |
N973K |
probably benign |
Het |
Lca5 |
T |
A |
9: 83,305,201 (GRCm39) |
T202S |
probably damaging |
Het |
Lrp1 |
G |
A |
10: 127,390,458 (GRCm39) |
L3053F |
probably damaging |
Het |
Mapk13 |
T |
C |
17: 28,994,304 (GRCm39) |
Y129H |
probably damaging |
Het |
Mast1 |
T |
A |
8: 85,647,838 (GRCm39) |
H512L |
probably damaging |
Het |
Mlip |
T |
C |
9: 77,081,281 (GRCm39) |
N213S |
probably damaging |
Het |
Mtcl1 |
C |
T |
17: 66,675,263 (GRCm39) |
G734R |
possibly damaging |
Het |
Myo9a |
T |
A |
9: 59,686,985 (GRCm39) |
I30N |
probably damaging |
Het |
Or4b13 |
A |
G |
2: 90,082,675 (GRCm39) |
I219T |
probably damaging |
Het |
Pctp |
T |
C |
11: 89,878,162 (GRCm39) |
D124G |
probably benign |
Het |
Plat |
T |
A |
8: 23,270,453 (GRCm39) |
F457I |
possibly damaging |
Het |
Snw1 |
T |
C |
12: 87,502,438 (GRCm39) |
K319E |
probably benign |
Het |
Sox8 |
A |
G |
17: 25,789,111 (GRCm39) |
L129P |
probably damaging |
Het |
Sp140l2 |
A |
G |
1: 85,231,907 (GRCm39) |
|
probably benign |
Het |
Stc1 |
A |
T |
14: 69,269,103 (GRCm39) |
|
probably benign |
Het |
Szt2 |
A |
G |
4: 118,241,450 (GRCm39) |
|
probably benign |
Het |
Tmem81 |
T |
A |
1: 132,435,698 (GRCm39) |
V168D |
probably damaging |
Het |
Ttc41 |
C |
A |
10: 86,549,054 (GRCm39) |
Q83K |
probably damaging |
Het |
Ugt1a5 |
T |
C |
1: 88,094,267 (GRCm39) |
V165A |
probably damaging |
Het |
Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
Vps33b |
A |
G |
7: 79,937,560 (GRCm39) |
|
probably null |
Het |
Zap70 |
T |
C |
1: 36,817,868 (GRCm39) |
Y290H |
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 |
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 |
2014-05-07 |