Incidental Mutation 'IGL02727:Phf12'
| ID |
305251 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Phf12
|
| Ensembl Gene |
ENSMUSG00000037791 |
| Gene Name |
PHD finger protein 12 |
| Synonyms |
PF1, 2410142K10Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.704)
|
| Stock # |
IGL02727
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
77873580-77921365 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 77914493 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 96
(V96A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119390
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049167]
[ENSMUST00000108360]
[ENSMUST00000131680]
[ENSMUST00000153428]
|
| AlphaFold |
Q5SPL2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000049167
AA Change: V645A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000044990
Gene: ENSMUSG00000037791
AA Change: V645A
| 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: V645A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000103997
Gene: ENSMUSG00000037791
AA Change: V645A
| 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 |
possibly damaging
Transcript: ENSMUST00000153428
AA Change: V96A
PolyPhen 2
Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000119390
Gene: ENSMUSG00000037791
AA Change: V96A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
67 |
81 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000153747
AA Change: V13A
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700019A02Rik |
T |
C |
1: 53,226,724 (GRCm39) |
T13A |
probably benign |
Het |
| Aldh1l2 |
T |
A |
10: 83,342,469 (GRCm39) |
K447I |
probably damaging |
Het |
| Ankrd17 |
A |
G |
5: 90,392,151 (GRCm39) |
S1840P |
possibly damaging |
Het |
| Ash1l |
A |
G |
3: 88,930,344 (GRCm39) |
I1940M |
probably benign |
Het |
| Bfar |
T |
G |
16: 13,506,791 (GRCm39) |
|
probably null |
Het |
| Bicra |
G |
T |
7: 15,713,390 (GRCm39) |
H937Q |
possibly damaging |
Het |
| Brip1 |
A |
T |
11: 86,043,562 (GRCm39) |
M334K |
probably benign |
Het |
| Camsap2 |
T |
G |
1: 136,232,050 (GRCm39) |
M182L |
probably benign |
Het |
| Chd6 |
A |
T |
2: 160,811,383 (GRCm39) |
C1407S |
probably damaging |
Het |
| Cmya5 |
A |
G |
13: 93,234,753 (GRCm39) |
S112P |
possibly damaging |
Het |
| Csmd1 |
A |
T |
8: 16,281,341 (GRCm39) |
V728E |
probably damaging |
Het |
| Cyp2j6 |
T |
A |
4: 96,434,001 (GRCm39) |
Q103L |
probably benign |
Het |
| Ddias |
A |
T |
7: 92,515,830 (GRCm39) |
I21K |
probably damaging |
Het |
| Derl2 |
A |
C |
11: 70,904,036 (GRCm39) |
|
probably benign |
Het |
| Dgka |
A |
T |
10: 128,558,317 (GRCm39) |
|
probably benign |
Het |
| Dusp11 |
T |
C |
6: 85,938,474 (GRCm39) |
D15G |
probably damaging |
Het |
| Enpp2 |
T |
C |
15: 54,773,577 (GRCm39) |
D110G |
probably damaging |
Het |
| Fkbp11 |
A |
T |
15: 98,622,471 (GRCm39) |
V134E |
probably damaging |
Het |
| Gm3248 |
T |
C |
14: 5,945,036 (GRCm38) |
T49A |
probably damaging |
Het |
| Gm57858 |
T |
A |
3: 36,087,065 (GRCm39) |
R176S |
possibly damaging |
Het |
| Irag2 |
T |
C |
6: 145,120,344 (GRCm39) |
S520P |
possibly damaging |
Het |
| Luzp2 |
T |
C |
7: 54,821,939 (GRCm39) |
|
probably benign |
Het |
| Manea |
T |
A |
4: 26,328,126 (GRCm39) |
E305V |
probably damaging |
Het |
| Manea |
C |
A |
4: 26,328,127 (GRCm39) |
E305* |
probably null |
Het |
| Megf6 |
A |
G |
4: 154,337,606 (GRCm39) |
|
probably null |
Het |
| Mrpl3 |
G |
T |
9: 104,931,726 (GRCm39) |
D59Y |
probably damaging |
Het |
| Myh9 |
T |
C |
15: 77,675,942 (GRCm39) |
Y248C |
probably benign |
Het |
| Nbeal2 |
G |
A |
9: 110,468,353 (GRCm39) |
|
probably benign |
Het |
| Or10a5 |
G |
T |
7: 106,635,902 (GRCm39) |
C180F |
probably damaging |
Het |
| Or1f19 |
T |
A |
16: 3,411,190 (GRCm39) |
I310K |
probably benign |
Het |
| Or2y1c |
G |
T |
11: 49,361,893 (GRCm39) |
G305V |
probably benign |
Het |
| Or8b40 |
A |
G |
9: 38,027,808 (GRCm39) |
T239A |
probably damaging |
Het |
| Pax8 |
C |
A |
2: 24,331,642 (GRCm39) |
C147F |
probably damaging |
Het |
| Psg18 |
A |
T |
7: 18,079,875 (GRCm39) |
I442K |
probably damaging |
Het |
| Pygl |
T |
A |
12: 70,254,442 (GRCm39) |
|
probably null |
Het |
| Rassf2 |
C |
A |
2: 131,846,307 (GRCm39) |
R150L |
probably benign |
Het |
| Rdh7 |
A |
T |
10: 127,723,487 (GRCm39) |
W123R |
probably damaging |
Het |
| Saal1 |
T |
C |
7: 46,339,223 (GRCm39) |
|
probably null |
Het |
| Sall1 |
T |
C |
8: 89,757,383 (GRCm39) |
D907G |
probably damaging |
Het |
| Spag1 |
T |
A |
15: 36,234,964 (GRCm39) |
F876I |
probably damaging |
Het |
| Syncrip |
G |
A |
9: 88,361,932 (GRCm39) |
A61V |
probably damaging |
Het |
| Trbv3 |
A |
T |
6: 41,025,576 (GRCm39) |
K55N |
probably benign |
Het |
| Vmn1r178 |
A |
G |
7: 23,593,871 (GRCm39) |
|
probably null |
Het |
| Vmn2r84 |
T |
C |
10: 130,229,995 (GRCm39) |
D39G |
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 |
|
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 |
|
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 |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation