Incidental Mutation 'R3700:Phc3'
| ID |
269941 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Phc3
|
| Ensembl Gene |
ENSMUSG00000037652 |
| Gene Name |
polyhomeotic 3 |
| Synonyms |
EDR3, E030046K01Rik, HPH3 |
| MMRRC Submission |
040693-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3700 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
30953520-31023564 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 30968277 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Tyrosine
at position 920
(D920Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130142
(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 damaging
Transcript: ENSMUST00000064718
AA Change: D890Y
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000065617
Gene: ENSMUSG00000037652
AA Change: D890Y
| 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: ENSMUST00000108255
AA Change: D887Y
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000103890
Gene: ENSMUSG00000037652
AA Change: D887Y
| 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 damaging
Transcript: ENSMUST00000129817
AA Change: D920Y
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000114916
Gene: ENSMUSG00000037652
AA Change: D920Y
| 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: D920Y
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000130142
Gene: ENSMUSG00000037652
AA Change: D920Y
| 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: D887Y
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000136820
Gene: ENSMUSG00000037652
AA Change: D887Y
| 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 |
0.5913 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.2%
|
| Validation Efficiency |
98% (51/52) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alpk2 |
G |
A |
18: 65,438,222 (GRCm39) |
T1524I |
probably damaging |
Het |
| Ankrd29 |
G |
A |
18: 12,387,757 (GRCm39) |
A275V |
possibly damaging |
Het |
| Arhgap26 |
T |
A |
18: 39,253,237 (GRCm39) |
F221L |
probably damaging |
Het |
| Arhgap28 |
T |
C |
17: 68,208,361 (GRCm39) |
S36G |
probably damaging |
Het |
| Bcl11a |
A |
G |
11: 24,113,890 (GRCm39) |
D411G |
probably damaging |
Het |
| Cdh23 |
C |
A |
10: 60,163,149 (GRCm39) |
|
probably null |
Het |
| Cnnm2 |
T |
A |
19: 46,750,990 (GRCm39) |
I260N |
probably damaging |
Het |
| Coro6 |
T |
C |
11: 77,358,129 (GRCm39) |
F238S |
probably damaging |
Het |
| Ddah1 |
G |
A |
3: 145,597,250 (GRCm39) |
M162I |
probably benign |
Het |
| Dnah5 |
T |
C |
15: 28,387,937 (GRCm39) |
I3132T |
possibly damaging |
Het |
| Drgx |
A |
T |
14: 32,350,818 (GRCm39) |
E218V |
probably damaging |
Het |
| Dync2i1 |
C |
T |
12: 116,175,462 (GRCm39) |
W905* |
probably null |
Het |
| Eif3f |
A |
T |
7: 108,539,482 (GRCm39) |
I251F |
probably benign |
Het |
| Ephx4 |
T |
C |
5: 107,550,673 (GRCm39) |
F11L |
probably benign |
Het |
| Esp1 |
T |
C |
17: 41,041,998 (GRCm39) |
S97P |
unknown |
Het |
| Fbxw10 |
A |
T |
11: 62,759,983 (GRCm39) |
|
probably null |
Het |
| Hsp90ab1 |
T |
C |
17: 45,882,440 (GRCm39) |
T85A |
possibly damaging |
Het |
| Idh2 |
T |
C |
7: 79,748,895 (GRCm39) |
K129E |
probably damaging |
Het |
| Kcnj6 |
A |
G |
16: 94,633,865 (GRCm39) |
I64T |
probably damaging |
Het |
| Klk1b5 |
T |
A |
7: 43,500,251 (GRCm39) |
C280S |
probably damaging |
Het |
| Lhx2 |
T |
A |
2: 38,250,111 (GRCm39) |
L269H |
probably damaging |
Het |
| Lrrc71 |
T |
A |
3: 87,653,185 (GRCm39) |
|
probably null |
Het |
| Lss |
T |
A |
10: 76,382,026 (GRCm39) |
L484Q |
probably damaging |
Het |
| Mmp14 |
G |
A |
14: 54,669,389 (GRCm39) |
|
probably benign |
Het |
| Muc5b |
A |
G |
7: 141,400,986 (GRCm39) |
T534A |
unknown |
Het |
| Mysm1 |
T |
C |
4: 94,858,889 (GRCm39) |
K87E |
probably benign |
Het |
| Or6d13 |
T |
A |
6: 116,517,489 (GRCm39) |
V25E |
probably benign |
Het |
| Or6f2 |
C |
G |
7: 139,756,127 (GRCm39) |
F37L |
possibly damaging |
Het |
| Pcolce |
T |
C |
5: 137,607,309 (GRCm39) |
T61A |
probably damaging |
Het |
| Pi4kb |
T |
C |
3: 94,901,599 (GRCm39) |
I422T |
probably benign |
Het |
| Piezo1 |
C |
T |
8: 123,221,642 (GRCm39) |
R584H |
probably damaging |
Het |
| Plce1 |
T |
A |
19: 38,693,781 (GRCm39) |
F768Y |
probably damaging |
Het |
| Ppp1r21 |
T |
C |
17: 88,889,882 (GRCm39) |
S709P |
possibly damaging |
Het |
| Prdx6 |
T |
C |
1: 161,074,858 (GRCm39) |
D74G |
probably damaging |
Het |
| Rlf |
A |
G |
4: 121,008,060 (GRCm39) |
F307L |
possibly damaging |
Het |
| Skic2 |
T |
C |
17: 35,068,879 (GRCm39) |
E40G |
probably benign |
Het |
| Snapin |
G |
A |
3: 90,397,499 (GRCm39) |
R91* |
probably null |
Het |
| Sort1 |
T |
A |
3: 108,263,955 (GRCm39) |
L838* |
probably null |
Het |
| Sstr4 |
A |
G |
2: 148,238,273 (GRCm39) |
I295V |
possibly damaging |
Het |
| Stk39 |
T |
A |
2: 68,222,462 (GRCm39) |
I201F |
probably damaging |
Het |
| Tasp1 |
T |
C |
2: 139,752,474 (GRCm39) |
T322A |
probably benign |
Het |
| Tepsin |
C |
T |
11: 119,982,579 (GRCm39) |
C491Y |
possibly damaging |
Het |
| Tlr9 |
G |
A |
9: 106,101,278 (GRCm39) |
V190M |
probably damaging |
Het |
| Ttf2 |
A |
G |
3: 100,858,324 (GRCm39) |
L755P |
probably damaging |
Het |
| Txn2 |
G |
A |
15: 77,811,976 (GRCm39) |
T60M |
possibly damaging |
Het |
| Vmn1r10 |
A |
G |
6: 57,091,287 (GRCm39) |
N293S |
probably benign |
Het |
| Vmn1r232 |
A |
G |
17: 21,134,465 (GRCm39) |
L45P |
probably benign |
Het |
| Vmn2r111 |
C |
T |
17: 22,790,142 (GRCm39) |
W288* |
probably null |
Het |
| Vmn2r118 |
T |
C |
17: 55,915,421 (GRCm39) |
S510G |
possibly damaging |
Het |
| Zgpat |
T |
A |
2: 181,007,439 (GRCm39) |
|
probably benign |
Het |
| Zzef1 |
G |
T |
11: 72,777,598 (GRCm39) |
G1810C |
probably null |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTCTCAGAAGAAGCAGAATTAGCC -3'
(R):5'- AAGACGTGGCCTCTCATGAAG -3'
Sequencing Primer
(F):5'- GAAGCAGAATTAGCCAGTCTTTATTC -3'
(R):5'- GTGGCCTCTCATGAAGATCCTG -3'
|
| Posted On |
2015-03-18 |
Incidental Mutation