Incidental Mutation 'R6034:Phf12'
| ID |
486453 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Phf12
|
| Ensembl Gene |
ENSMUSG00000037791 |
| Gene Name |
PHD finger protein 12 |
| Synonyms |
PF1, 2410142K10Rik |
| MMRRC Submission |
044206-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.704)
|
| Stock # |
R6034 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
77873580-77921365 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 77908895 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 325
(N325S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103997
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049167]
[ENSMUST00000108360]
|
| AlphaFold |
Q5SPL2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000049167
AA Change: N325S
PolyPhen 2
Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000044990
Gene: ENSMUSG00000037791
AA Change: N325S
| 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 benign
Transcript: ENSMUST00000108360
AA Change: N325S
PolyPhen 2
Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000103997
Gene: ENSMUSG00000037791
AA Change: N325S
| 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 |
|
| Meta Mutation Damage Score |
0.0662 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.9%
|
| Validation Efficiency |
96% (55/57) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgef4 |
G |
T |
1: 34,760,984 (GRCm39) |
G80V |
unknown |
Het |
| Ash1l |
T |
C |
3: 88,892,326 (GRCm39) |
Y1402H |
probably damaging |
Het |
| Atad2 |
A |
T |
15: 57,971,959 (GRCm39) |
L306Q |
probably damaging |
Het |
| Atp2b4 |
T |
A |
1: 133,659,645 (GRCm39) |
|
probably null |
Het |
| Atp6v1c2 |
C |
A |
12: 17,357,501 (GRCm39) |
G95V |
possibly damaging |
Het |
| Birc6 |
T |
A |
17: 74,922,278 (GRCm39) |
V2192E |
probably damaging |
Het |
| Catsperb |
A |
G |
12: 101,542,091 (GRCm39) |
E597G |
probably benign |
Het |
| Ccdc40 |
A |
G |
11: 119,133,898 (GRCm39) |
M556V |
possibly damaging |
Het |
| Ccin |
G |
A |
4: 43,985,354 (GRCm39) |
R587K |
probably benign |
Het |
| Cdipt |
T |
G |
7: 126,577,497 (GRCm39) |
V81G |
probably damaging |
Het |
| Cert1 |
A |
C |
13: 96,746,308 (GRCm39) |
I236L |
probably benign |
Het |
| Cfh |
T |
C |
1: 140,090,869 (GRCm39) |
K40E |
probably damaging |
Het |
| Cps1 |
T |
A |
1: 67,196,872 (GRCm39) |
|
probably null |
Het |
| Dnah7c |
A |
T |
1: 46,496,418 (GRCm39) |
D101V |
probably benign |
Het |
| Fastkd3 |
T |
A |
13: 68,731,729 (GRCm39) |
W17R |
probably damaging |
Het |
| Gapdh |
T |
C |
6: 125,142,261 (GRCm39) |
D25G |
probably benign |
Het |
| H1f4 |
A |
G |
13: 23,806,296 (GRCm39) |
L62P |
probably damaging |
Het |
| H2-Ob |
T |
C |
17: 34,460,192 (GRCm39) |
V30A |
probably damaging |
Het |
| Hmgxb3 |
T |
A |
18: 61,265,594 (GRCm39) |
H1128L |
probably damaging |
Het |
| Hspbp1 |
A |
T |
7: 4,680,711 (GRCm39) |
I255N |
probably damaging |
Het |
| Imp4 |
A |
G |
1: 34,482,537 (GRCm39) |
D91G |
probably damaging |
Het |
| Itprid1 |
T |
A |
6: 55,944,666 (GRCm39) |
D462E |
possibly damaging |
Het |
| Kcnip4 |
G |
T |
5: 48,548,283 (GRCm39) |
R241S |
possibly damaging |
Het |
| Lilra5 |
T |
C |
7: 4,245,133 (GRCm39) |
L259P |
probably benign |
Het |
| Lipf |
T |
C |
19: 33,942,289 (GRCm39) |
I73T |
probably benign |
Het |
| Lsm7 |
T |
C |
10: 80,688,742 (GRCm39) |
|
probably null |
Het |
| Luzp2 |
T |
A |
7: 54,816,972 (GRCm39) |
L141M |
probably damaging |
Het |
| Malrd1 |
T |
A |
2: 15,850,137 (GRCm39) |
V1252E |
possibly damaging |
Het |
| Map10 |
T |
C |
8: 126,399,205 (GRCm39) |
L866P |
probably damaging |
Het |
| Mink1 |
AAGCAGCAGCAGCAGCAGCAGCAG |
AAGCAGCAGCAGCAGCAGCAG |
11: 70,497,866 (GRCm39) |
|
probably benign |
Het |
| Mpp2 |
T |
C |
11: 101,952,460 (GRCm39) |
I355V |
possibly damaging |
Het |
| Mtrf1l |
T |
A |
10: 5,773,834 (GRCm39) |
|
probably benign |
Het |
| Myo5c |
A |
T |
9: 75,163,187 (GRCm39) |
T339S |
probably benign |
Het |
| Naa15 |
A |
G |
3: 51,350,242 (GRCm39) |
D163G |
probably damaging |
Het |
| Oosp2 |
A |
G |
19: 11,628,879 (GRCm39) |
F74S |
probably damaging |
Het |
| Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
| Or4f7 |
T |
A |
2: 111,644,702 (GRCm39) |
Y123F |
probably damaging |
Het |
| Pard3 |
C |
G |
8: 127,791,077 (GRCm39) |
|
probably benign |
Het |
| Pcdha1 |
T |
A |
18: 37,063,651 (GRCm39) |
I105N |
probably damaging |
Het |
| Pcdhgb8 |
A |
G |
18: 37,895,601 (GRCm39) |
T224A |
possibly damaging |
Het |
| Prom1 |
T |
A |
5: 44,201,750 (GRCm39) |
|
probably null |
Het |
| Raet1e |
A |
G |
10: 22,057,990 (GRCm39) |
*252W |
probably null |
Het |
| Sap130 |
T |
C |
18: 31,822,459 (GRCm39) |
V655A |
possibly damaging |
Het |
| Sec16b |
A |
T |
1: 157,380,509 (GRCm39) |
K360I |
probably damaging |
Het |
| Sec23ip |
C |
T |
7: 128,351,927 (GRCm39) |
T101I |
possibly damaging |
Het |
| Selenoo |
A |
G |
15: 88,983,546 (GRCm39) |
K529R |
probably benign |
Het |
| Slc22a15 |
A |
G |
3: 101,770,235 (GRCm39) |
F451L |
possibly damaging |
Het |
| St6gal2 |
T |
A |
17: 55,789,982 (GRCm39) |
S339T |
probably benign |
Het |
| Stard13 |
A |
T |
5: 151,018,965 (GRCm39) |
|
probably null |
Het |
| Synm |
A |
G |
7: 67,384,653 (GRCm39) |
V561A |
probably damaging |
Het |
| Tc2n |
A |
T |
12: 101,617,460 (GRCm39) |
|
probably null |
Het |
| Ugt2b36 |
T |
A |
5: 87,229,377 (GRCm39) |
D236V |
probably damaging |
Het |
| Vmn1r65 |
A |
G |
7: 6,011,868 (GRCm39) |
L122P |
probably damaging |
Het |
| Zc3h14 |
T |
C |
12: 98,737,632 (GRCm39) |
S40P |
probably benign |
Het |
| Zc3hav1l |
C |
A |
6: 38,272,215 (GRCm39) |
G185C |
probably damaging |
Het |
| Zfp563 |
G |
A |
17: 33,323,935 (GRCm39) |
A177T |
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 |
|
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 |
|
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 |
|
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'- GACCTAGCGTATGGTCAGAC -3'
(R):5'- AGGGCTGTGACTTACCTTCAAG -3'
Sequencing Primer
(F):5'- GAGAAGGCATTTCCAGGCTACTTC -3'
(R):5'- AAGCTTCTTCTTTTGACAGACTGGAG -3'
|
| Posted On |
2017-08-16 |
Incidental Mutation