Incidental Mutation 'R2863:Phc3'
| ID |
253013 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Phc3
|
| Ensembl Gene |
ENSMUSG00000037652 |
| Gene Name |
polyhomeotic 3 |
| Synonyms |
EDR3, E030046K01Rik, HPH3 |
| MMRRC Submission |
040453-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2863 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
30953520-31023564 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 30968277 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 920
(D920N)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000064718
AA Change: D890N
PolyPhen 2
Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000065617
Gene: ENSMUSG00000037652
AA Change: D890N
| 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 benign
Transcript: ENSMUST00000108255
AA Change: D887N
PolyPhen 2
Score 0.145 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000103890
Gene: ENSMUSG00000037652
AA Change: D887N
| 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: D920N
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000114916
Gene: ENSMUSG00000037652
AA Change: D920N
| 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: D920N
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000130142
Gene: ENSMUSG00000037652
AA Change: D920N
| 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: D887N
PolyPhen 2
Score 0.145 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000136820
Gene: ENSMUSG00000037652
AA Change: D887N
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Armh3 |
A |
T |
19: 45,874,396 (GRCm39) |
N592K |
probably damaging |
Het |
| Bag5 |
T |
C |
12: 111,677,029 (GRCm39) |
T265A |
probably benign |
Het |
| Bmper |
A |
G |
9: 23,395,237 (GRCm39) |
N656S |
probably benign |
Het |
| Boc |
A |
G |
16: 44,313,323 (GRCm39) |
S514P |
probably benign |
Het |
| Ddx6 |
G |
T |
9: 44,525,553 (GRCm39) |
L103F |
probably damaging |
Het |
| Epb41l3 |
C |
T |
17: 69,517,316 (GRCm39) |
P115S |
probably benign |
Het |
| Exoc6 |
T |
C |
19: 37,641,861 (GRCm39) |
F709S |
probably benign |
Het |
| Fnip1 |
T |
C |
11: 54,393,250 (GRCm39) |
I562T |
probably damaging |
Het |
| Fxr2 |
T |
A |
11: 69,530,253 (GRCm39) |
I40N |
probably damaging |
Het |
| Ifna6 |
G |
C |
4: 88,746,099 (GRCm39) |
R149S |
probably benign |
Het |
| Ifna6 |
C |
A |
4: 88,746,086 (GRCm39) |
T145K |
probably benign |
Het |
| Ldb2 |
T |
C |
5: 44,637,666 (GRCm39) |
Q214R |
probably damaging |
Het |
| Mus81 |
T |
G |
19: 5,536,528 (GRCm39) |
Y146S |
probably damaging |
Het |
| Myh11 |
T |
C |
16: 14,057,290 (GRCm39) |
I335V |
probably benign |
Het |
| Nid2 |
G |
A |
14: 19,818,471 (GRCm39) |
E322K |
possibly damaging |
Het |
| Odad1 |
T |
C |
7: 45,597,736 (GRCm39) |
S549P |
probably benign |
Het |
| Ofcc1 |
A |
T |
13: 40,226,236 (GRCm39) |
S765R |
probably damaging |
Het |
| Ofcc1 |
T |
A |
13: 40,241,414 (GRCm39) |
H698L |
possibly damaging |
Het |
| Or8b56 |
T |
A |
9: 38,739,835 (GRCm39) |
F283I |
possibly damaging |
Het |
| Otog |
T |
G |
7: 45,918,730 (GRCm39) |
C935W |
probably damaging |
Het |
| Pcdhga3 |
T |
C |
18: 37,807,643 (GRCm39) |
V32A |
probably damaging |
Het |
| Pou6f1 |
A |
G |
15: 100,478,689 (GRCm39) |
|
probably null |
Het |
| Ppp4c |
A |
T |
7: 126,391,272 (GRCm39) |
I20N |
probably damaging |
Het |
| Prkag2 |
T |
A |
5: 25,226,790 (GRCm39) |
T156S |
probably benign |
Het |
| Psd |
T |
C |
19: 46,303,201 (GRCm39) |
D95G |
probably damaging |
Het |
| Riox2 |
A |
G |
16: 59,309,756 (GRCm39) |
D370G |
probably damaging |
Het |
| Spink14 |
T |
A |
18: 44,163,948 (GRCm39) |
C39S |
probably damaging |
Het |
| Tdrd9 |
T |
C |
12: 111,997,695 (GRCm39) |
V728A |
probably benign |
Het |
| Tgm2 |
T |
C |
2: 157,985,019 (GRCm39) |
E29G |
probably benign |
Het |
| Wdr35 |
T |
A |
12: 9,078,060 (GRCm39) |
Y1139* |
probably null |
Het |
| Wdr95 |
T |
A |
5: 149,505,321 (GRCm39) |
C367* |
probably null |
Het |
| Zfp35 |
T |
A |
18: 24,137,352 (GRCm39) |
D565E |
probably 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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTCTCAGAAGAAGCAGAATTAGCC -3'
(R):5'- AGACGTGGCCTCTCATGAAG -3'
Sequencing Primer
(F):5'- GAAGCAGAATTAGCCAGTCTTTATTC -3'
(R):5'- GTGGCCTCTCATGAAGATCCTG -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation