Incidental Mutation 'R2875:Phf12'
ID |
260518 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Phf12
|
Ensembl Gene |
ENSMUSG00000037791 |
Gene Name |
PHD finger protein 12 |
Synonyms |
PF1, 2410142K10Rik |
MMRRC Submission |
040463-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.704)
|
Stock # |
R2875 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
77873580-77921365 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 77900573 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Asparagine
at position 223
(T223N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103997
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049167]
[ENSMUST00000108360]
|
AlphaFold |
Q5SPL2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000049167
AA Change: T223N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000044990 Gene: ENSMUSG00000037791 AA Change: T223N
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: T223N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000103997 Gene: ENSMUSG00000037791 AA Change: T223N
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 |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
Validation Efficiency |
100% (1/1) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam34l |
T |
A |
8: 44,080,177 (GRCm39) |
K16* |
probably null |
Het |
Adgb |
T |
G |
10: 10,298,463 (GRCm39) |
T422P |
probably damaging |
Het |
Adrm1 |
A |
G |
2: 179,817,411 (GRCm39) |
T293A |
probably damaging |
Het |
Baz1a |
A |
T |
12: 54,969,904 (GRCm39) |
D585E |
probably damaging |
Het |
Ccdc152 |
T |
C |
15: 3,327,663 (GRCm39) |
N38S |
probably damaging |
Het |
Cenpf |
A |
G |
1: 189,390,841 (GRCm39) |
M997T |
probably benign |
Het |
Dnah12 |
A |
G |
14: 26,414,625 (GRCm39) |
I9V |
probably benign |
Het |
Dnah12 |
A |
G |
14: 26,598,907 (GRCm39) |
N995S |
probably benign |
Het |
Dnah9 |
C |
A |
11: 66,059,287 (GRCm39) |
G3C |
possibly damaging |
Het |
Dock2 |
A |
G |
11: 34,609,712 (GRCm39) |
S243P |
probably damaging |
Het |
Eif2ak3 |
T |
C |
6: 70,860,623 (GRCm39) |
S400P |
probably damaging |
Het |
Eno1b |
A |
G |
18: 48,180,851 (GRCm39) |
K343R |
possibly damaging |
Het |
Grk6 |
A |
G |
13: 55,600,117 (GRCm39) |
H271R |
probably damaging |
Het |
H2-Ab1 |
A |
C |
17: 34,482,286 (GRCm39) |
M1L |
probably benign |
Het |
Irf8 |
C |
A |
8: 121,481,202 (GRCm39) |
P262Q |
probably damaging |
Het |
Kcnc3 |
G |
T |
7: 44,240,961 (GRCm39) |
G218* |
probably null |
Het |
Krt9 |
C |
A |
11: 100,080,031 (GRCm39) |
G454* |
probably null |
Het |
Mgrn1 |
C |
T |
16: 4,725,280 (GRCm39) |
T47I |
possibly damaging |
Het |
Ndst1 |
A |
T |
18: 60,823,119 (GRCm39) |
F816I |
probably damaging |
Het |
Or11g26 |
T |
A |
14: 50,753,269 (GRCm39) |
W203R |
probably benign |
Het |
Or5h25 |
A |
T |
16: 58,930,165 (GRCm39) |
D269E |
probably benign |
Het |
Rad1 |
T |
C |
15: 10,490,417 (GRCm39) |
V128A |
probably benign |
Het |
Rad54l |
C |
T |
4: 115,959,050 (GRCm39) |
R382Q |
probably benign |
Het |
Rhbdd1 |
A |
G |
1: 82,346,090 (GRCm39) |
D215G |
probably benign |
Het |
Sdc4 |
T |
C |
2: 164,273,211 (GRCm39) |
D33G |
possibly damaging |
Het |
Smarca4 |
A |
T |
9: 21,553,876 (GRCm39) |
K387N |
possibly damaging |
Het |
St3gal5 |
A |
G |
6: 72,124,114 (GRCm39) |
M214V |
possibly damaging |
Het |
Stk25 |
T |
C |
1: 93,556,973 (GRCm39) |
D15G |
possibly damaging |
Het |
Timm21 |
T |
C |
18: 84,969,217 (GRCm39) |
D69G |
probably benign |
Het |
Ttll4 |
A |
G |
1: 74,725,597 (GRCm39) |
|
probably null |
Het |
Ttn |
T |
A |
2: 76,589,438 (GRCm39) |
N21272I |
probably damaging |
Het |
Uchl3 |
A |
G |
14: 101,905,996 (GRCm39) |
H153R |
probably benign |
Het |
Zbed6 |
C |
T |
1: 133,584,598 (GRCm39) |
C913Y |
probably damaging |
Het |
Zcwpw1 |
T |
C |
5: 137,808,304 (GRCm39) |
S251P |
probably damaging |
Het |
Zeb1 |
GGA |
GGAAGA |
18: 5,772,859 (GRCm39) |
|
probably benign |
Het |
Zscan29 |
T |
C |
2: 120,994,581 (GRCm39) |
Y468C |
probably 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 |
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 |
R5727:Phf12
|
UTSW |
11 |
77,914,370 (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'- ACTGAACTCAAGGCCATTGC -3'
(R):5'- AATTACAACCTTTGATGCGCTTCTC -3'
Sequencing Primer
(F):5'- ATGCCCGGATCCTGGAAAG -3'
(R):5'- GATGCGCTTCTCCAGGCAAAATC -3'
|
Posted On |
2015-01-23 |