Incidental Mutation 'IGL02210:Phc3'
| ID |
284681 |
| 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 # |
IGL02210
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
30953520-31023564 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 30990858 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 420
(V420A)
|
| 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 benign
Transcript: ENSMUST00000046624
AA Change: V453A
PolyPhen 2
Score 0.434 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000037862
Gene: ENSMUSG00000037652
AA Change: V453A
| 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 benign
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 damaging
Transcript: ENSMUST00000099163
AA Change: V420A
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000096767
Gene: ENSMUSG00000037652
AA Change: V420A
| 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 benign
Transcript: ENSMUST00000108255
AA Change: V408A
PolyPhen 2
Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000103890
Gene: ENSMUSG00000037652
AA Change: V408A
| 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 benign
Transcript: ENSMUST00000129817
AA Change: V441A
PolyPhen 2
Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000114916
Gene: ENSMUSG00000037652
AA Change: V441A
| 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 benign
Transcript: ENSMUST00000168645
AA Change: V441A
PolyPhen 2
Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000130142
Gene: ENSMUSG00000037652
AA Change: V441A
| 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 benign
Transcript: ENSMUST00000177992
AA Change: V408A
PolyPhen 2
Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000136820
Gene: ENSMUSG00000037652
AA Change: V408A
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc9 |
A |
G |
6: 142,633,097 (GRCm39) |
F215S |
probably damaging |
Het |
| Acvr2a |
A |
T |
2: 48,788,538 (GRCm39) |
H422L |
probably damaging |
Het |
| Adcy6 |
T |
C |
15: 98,492,852 (GRCm39) |
Y908C |
possibly damaging |
Het |
| Alyref |
A |
C |
11: 120,488,499 (GRCm39) |
S110A |
possibly damaging |
Het |
| Ankrd1 |
T |
C |
19: 36,095,714 (GRCm39) |
D86G |
probably damaging |
Het |
| Anpep |
T |
A |
7: 79,476,652 (GRCm39) |
Y29F |
probably benign |
Het |
| Appl1 |
T |
C |
14: 26,647,909 (GRCm39) |
|
probably benign |
Het |
| Arrdc5 |
T |
C |
17: 56,607,026 (GRCm39) |
D73G |
probably damaging |
Het |
| Atp12a |
T |
A |
14: 56,609,201 (GRCm39) |
Y142* |
probably null |
Het |
| Clec4a3 |
T |
A |
6: 122,931,067 (GRCm39) |
I52N |
probably damaging |
Het |
| Cmya5 |
G |
A |
13: 93,229,242 (GRCm39) |
P1949S |
probably benign |
Het |
| Crybb2 |
T |
A |
5: 113,206,253 (GRCm39) |
Q194L |
probably damaging |
Het |
| Dmxl2 |
A |
C |
9: 54,311,333 (GRCm39) |
L1796R |
probably damaging |
Het |
| Ecm1 |
A |
G |
3: 95,643,289 (GRCm39) |
F337S |
probably damaging |
Het |
| F5 |
T |
C |
1: 164,017,710 (GRCm39) |
S596P |
probably benign |
Het |
| Fat4 |
A |
G |
3: 38,946,002 (GRCm39) |
T1632A |
probably benign |
Het |
| Gm5070 |
T |
G |
3: 95,317,936 (GRCm39) |
|
noncoding transcript |
Het |
| Hps5 |
T |
C |
7: 46,435,994 (GRCm39) |
Y184C |
probably benign |
Het |
| Letmd1 |
T |
C |
15: 100,367,128 (GRCm39) |
|
probably null |
Het |
| Lipo5 |
A |
T |
19: 33,445,277 (GRCm39) |
N97K |
unknown |
Het |
| Mis18bp1 |
A |
T |
12: 65,183,605 (GRCm39) |
Y922* |
probably null |
Het |
| Mob3c |
C |
A |
4: 115,690,952 (GRCm39) |
H181N |
probably damaging |
Het |
| Muc4 |
A |
T |
16: 32,574,054 (GRCm39) |
T711S |
probably benign |
Het |
| Nav3 |
T |
C |
10: 109,602,851 (GRCm39) |
T1233A |
probably benign |
Het |
| Nherf4 |
T |
G |
9: 44,159,614 (GRCm39) |
T461P |
probably benign |
Het |
| Or12e8 |
T |
A |
2: 87,188,347 (GRCm39) |
D186E |
probably damaging |
Het |
| Or12k8 |
G |
T |
2: 36,975,631 (GRCm39) |
T43N |
possibly damaging |
Het |
| Pcnt |
T |
C |
10: 76,225,053 (GRCm39) |
E1817G |
possibly damaging |
Het |
| Pgap4 |
A |
G |
4: 49,586,686 (GRCm39) |
Y161H |
probably benign |
Het |
| Plekhn1 |
A |
T |
4: 156,308,106 (GRCm39) |
C316S |
probably damaging |
Het |
| Ppp1cb |
T |
A |
5: 32,640,818 (GRCm39) |
|
probably benign |
Het |
| Slc29a4 |
T |
C |
5: 142,704,534 (GRCm39) |
Y359H |
probably damaging |
Het |
| Sspo |
T |
C |
6: 48,477,426 (GRCm39) |
I4982T |
probably damaging |
Het |
| Sstr4 |
T |
A |
2: 148,238,229 (GRCm39) |
L280Q |
probably damaging |
Het |
| Stap1 |
G |
A |
5: 86,225,920 (GRCm39) |
|
probably null |
Het |
| Szt2 |
A |
G |
4: 118,247,020 (GRCm39) |
V865A |
possibly damaging |
Het |
| Tnr |
T |
A |
1: 159,679,671 (GRCm39) |
V215D |
probably benign |
Het |
| Trpm1 |
T |
C |
7: 63,860,613 (GRCm39) |
L288P |
probably damaging |
Het |
| Ttll5 |
T |
A |
12: 85,959,319 (GRCm39) |
|
probably benign |
Het |
| Usp8 |
T |
C |
2: 126,559,976 (GRCm39) |
|
probably benign |
Het |
| Uxs1 |
T |
C |
1: 43,789,446 (GRCm39) |
Y403C |
possibly damaging |
Het |
| Wnk2 |
T |
C |
13: 49,244,345 (GRCm39) |
E497G |
probably damaging |
Het |
| Xdh |
T |
C |
17: 74,250,890 (GRCm39) |
K21E |
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 |
|
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 |
2015-04-16 |
Incidental Mutation