Incidental Mutation 'R5727:Phf12'
| ID |
452565 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Phf12
|
| Ensembl Gene |
ENSMUSG00000037791 |
| Gene Name |
PHD finger protein 12 |
| Synonyms |
PF1, 2410142K10Rik |
| MMRRC Submission |
043190-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.713)
|
| Stock # |
R5727 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
77873580-77921365 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 77914370 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 604
(E604G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103997
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049167]
[ENSMUST00000108360]
[ENSMUST00000131680]
[ENSMUST00000153428]
|
| AlphaFold |
Q5SPL2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000049167
AA Change: E604G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000044990
Gene: ENSMUSG00000037791
AA Change: E604G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
37 |
52 |
N/A |
INTRINSIC |
|
PHD
|
58 |
103 |
7.23e-11 |
SMART |
|
low complexity region
|
182 |
200 |
N/A |
INTRINSIC |
|
Pfam:PHF12_MRG_bd
|
202 |
241 |
1.3e-21 |
PFAM |
|
PHD
|
273 |
319 |
1.66e-10 |
SMART |
|
low complexity region
|
616 |
630 |
N/A |
INTRINSIC |
|
Blast:FHA
|
813 |
868 |
9e-34 |
BLAST |
|
low complexity region
|
905 |
916 |
N/A |
INTRINSIC |
|
low complexity region
|
927 |
939 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108360
AA Change: E604G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103997
Gene: ENSMUSG00000037791
AA Change: E604G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
37 |
52 |
N/A |
INTRINSIC |
|
PHD
|
58 |
103 |
7.23e-11 |
SMART |
|
low complexity region
|
182 |
200 |
N/A |
INTRINSIC |
|
PDB:2L9S|A
|
201 |
241 |
2e-20 |
PDB |
|
PHD
|
273 |
319 |
1.66e-10 |
SMART |
|
low complexity region
|
616 |
630 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123662
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125079
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131680
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141620
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000153428
AA Change: E55G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000119390
Gene: ENSMUSG00000037791
AA Change: E55G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
67 |
81 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153747
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 95.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr8 |
C |
A |
14: 29,712,838 (GRCm39) |
L494M |
probably benign |
Het |
| Ahnak |
G |
T |
19: 8,994,111 (GRCm39) |
A5132S |
probably damaging |
Het |
| Cadps |
G |
A |
14: 12,486,525 (GRCm38) |
Q882* |
probably null |
Het |
| Cdhr2 |
G |
A |
13: 54,872,121 (GRCm39) |
V662M |
possibly damaging |
Het |
| Cdyl2 |
T |
A |
8: 117,309,907 (GRCm39) |
I350F |
probably damaging |
Het |
| Cfap44 |
T |
G |
16: 44,255,805 (GRCm39) |
F966V |
probably damaging |
Het |
| Cpxm1 |
G |
A |
2: 130,232,883 (GRCm39) |
R704* |
probably null |
Het |
| Dnah11 |
A |
T |
12: 118,090,841 (GRCm39) |
F1034L |
probably damaging |
Het |
| Dpep2 |
A |
G |
8: 106,713,075 (GRCm39) |
V440A |
probably benign |
Het |
| Ehmt2 |
A |
T |
17: 35,125,008 (GRCm39) |
M11L |
possibly damaging |
Het |
| Eml2 |
C |
T |
7: 18,924,685 (GRCm39) |
H185Y |
probably damaging |
Het |
| Gm10845 |
T |
A |
14: 80,100,770 (GRCm39) |
|
noncoding transcript |
Het |
| Gm8122 |
T |
G |
14: 43,091,477 (GRCm39) |
N97T |
unknown |
Het |
| Gnb1 |
A |
G |
4: 155,639,559 (GRCm39) |
T263A |
probably benign |
Het |
| Hyls1 |
G |
A |
9: 35,472,480 (GRCm39) |
S312F |
probably benign |
Het |
| Ier5l |
A |
G |
2: 30,363,171 (GRCm39) |
C285R |
possibly damaging |
Het |
| Kif21b |
A |
G |
1: 136,097,747 (GRCm39) |
N1336D |
probably damaging |
Het |
| Kl |
A |
G |
5: 150,915,003 (GRCm39) |
N910S |
possibly damaging |
Het |
| Lama1 |
A |
G |
17: 68,122,219 (GRCm39) |
H2722R |
possibly damaging |
Het |
| Mdm2 |
A |
G |
10: 117,538,212 (GRCm39) |
M13T |
possibly damaging |
Het |
| Micall1 |
T |
A |
15: 79,014,678 (GRCm39) |
Y685N |
possibly damaging |
Het |
| Mthfd1l |
T |
G |
10: 4,053,302 (GRCm39) |
S884A |
possibly damaging |
Het |
| Nkiras2 |
A |
G |
11: 100,515,853 (GRCm39) |
Y60C |
probably damaging |
Het |
| Oc90 |
T |
G |
15: 65,753,388 (GRCm39) |
R342S |
possibly damaging |
Het |
| Or11h23 |
C |
A |
14: 50,947,817 (GRCm39) |
T10K |
possibly damaging |
Het |
| Or1j4 |
T |
C |
2: 36,740,544 (GRCm39) |
L162P |
possibly damaging |
Het |
| Or4k35 |
T |
A |
2: 111,100,197 (GRCm39) |
R172* |
probably null |
Het |
| Or4p20 |
T |
A |
2: 88,253,791 (GRCm39) |
I193F |
probably benign |
Het |
| Or9s13 |
A |
G |
1: 92,547,900 (GRCm39) |
N91D |
probably benign |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Parp9 |
G |
T |
16: 35,784,467 (GRCm39) |
E507* |
probably null |
Het |
| Pex13 |
A |
G |
11: 23,605,705 (GRCm39) |
I175T |
probably benign |
Het |
| Ppfia4 |
A |
T |
1: 134,251,815 (GRCm39) |
|
probably null |
Het |
| Rragc |
T |
C |
4: 123,813,828 (GRCm39) |
Y141H |
possibly damaging |
Het |
| Slc35g3 |
A |
G |
11: 69,651,280 (GRCm39) |
V257A |
probably benign |
Het |
| Snx5 |
T |
C |
2: 144,102,674 (GRCm39) |
T80A |
probably benign |
Het |
| Sorcs2 |
G |
A |
5: 36,188,630 (GRCm39) |
A826V |
possibly damaging |
Het |
| Sptb |
G |
A |
12: 76,669,888 (GRCm39) |
A480V |
probably benign |
Het |
| Tmem161b |
T |
A |
13: 84,434,909 (GRCm39) |
S302R |
possibly damaging |
Het |
| Ube2o |
A |
T |
11: 116,430,496 (GRCm39) |
F1081I |
probably damaging |
Het |
| Vmn2r2 |
T |
C |
3: 64,024,608 (GRCm39) |
I658V |
probably benign |
Het |
| Vwa3b |
T |
G |
1: 37,174,600 (GRCm39) |
L672V |
probably benign |
Het |
| Wscd2 |
T |
C |
5: 113,715,411 (GRCm39) |
F417S |
possibly damaging |
Het |
|
| Other mutations in Phf12 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00826:Phf12
|
APN |
11 |
77,906,332 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL00919:Phf12
|
APN |
11 |
77,874,166 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01434:Phf12
|
APN |
11 |
77,914,385 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02219:Phf12
|
APN |
11 |
77,875,022 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02727:Phf12
|
APN |
11 |
77,914,493 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
IGL03064:Phf12
|
APN |
11 |
77,874,186 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03117:Phf12
|
APN |
11 |
77,913,846 (GRCm39) |
unclassified |
probably benign |
|
|
Fossa
|
UTSW |
11 |
77,897,608 (GRCm39) |
missense |
probably damaging |
0.99 |
|
lemur
|
UTSW |
11 |
77,915,780 (GRCm39) |
splice site |
probably benign |
|
|
R0457:Phf12
|
UTSW |
11 |
77,908,994 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0477:Phf12
|
UTSW |
11 |
77,913,896 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0656:Phf12
|
UTSW |
11 |
77,920,158 (GRCm39) |
missense |
probably benign |
0.44 |
|
R0905:Phf12
|
UTSW |
11 |
77,900,230 (GRCm39) |
nonsense |
probably null |
|
|
R1719:Phf12
|
UTSW |
11 |
77,914,427 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1742:Phf12
|
UTSW |
11 |
77,900,312 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1826:Phf12
|
UTSW |
11 |
77,915,780 (GRCm39) |
splice site |
probably benign |
|
|
R2270:Phf12
|
UTSW |
11 |
77,875,001 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R2875:Phf12
|
UTSW |
11 |
77,900,573 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2885:Phf12
|
UTSW |
11 |
77,914,595 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R5020:Phf12
|
UTSW |
11 |
77,914,622 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5570:Phf12
|
UTSW |
11 |
77,908,937 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5573:Phf12
|
UTSW |
11 |
77,915,871 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5689:Phf12
|
UTSW |
11 |
77,914,551 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5807:Phf12
|
UTSW |
11 |
77,913,252 (GRCm39) |
missense |
probably benign |
0.16 |
|
R5910:Phf12
|
UTSW |
11 |
77,918,224 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6034:Phf12
|
UTSW |
11 |
77,908,895 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6034:Phf12
|
UTSW |
11 |
77,908,895 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6049:Phf12
|
UTSW |
11 |
77,918,996 (GRCm39) |
splice site |
probably null |
|
|
R6052:Phf12
|
UTSW |
11 |
77,909,044 (GRCm39) |
missense |
probably benign |
0.31 |
|
R6056:Phf12
|
UTSW |
11 |
77,900,341 (GRCm39) |
missense |
probably benign |
0.09 |
|
R6208:Phf12
|
UTSW |
11 |
77,914,417 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6644:Phf12
|
UTSW |
11 |
77,916,918 (GRCm39) |
makesense |
probably null |
|
|
R6805:Phf12
|
UTSW |
11 |
77,918,199 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6823:Phf12
|
UTSW |
11 |
77,913,337 (GRCm39) |
nonsense |
probably null |
|
|
R7047:Phf12
|
UTSW |
11 |
77,904,099 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7159:Phf12
|
UTSW |
11 |
77,914,366 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R7602:Phf12
|
UTSW |
11 |
77,914,109 (GRCm39) |
missense |
probably benign |
|
|
R7618:Phf12
|
UTSW |
11 |
77,916,960 (GRCm39) |
missense |
unknown |
|
|
R8162:Phf12
|
UTSW |
11 |
77,915,651 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8290:Phf12
|
UTSW |
11 |
77,920,465 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8544:Phf12
|
UTSW |
11 |
77,918,235 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8834:Phf12
|
UTSW |
11 |
77,897,608 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9018:Phf12
|
UTSW |
11 |
77,914,510 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
X0013:Phf12
|
UTSW |
11 |
77,900,617 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0027:Phf12
|
UTSW |
11 |
77,919,721 (GRCm39) |
splice site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AAGTCCAAGAAAGCCCCTTGTG -3'
(R):5'- ATACTGTCTCCTGCAGCCTG -3'
Sequencing Primer
(F):5'- CCTTGTGGGACTGCCAATG -3'
(R):5'- ACCCGGGTGGCATTTGG -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation