Incidental Mutation 'R2885:Phf12'
| ID |
261020 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Phf12
|
| Ensembl Gene |
ENSMUSG00000037791 |
| Gene Name |
PHD finger protein 12 |
| Synonyms |
PF1, 2410142K10Rik |
| MMRRC Submission |
040473-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.704)
|
| Stock # |
R2885 (G1)
|
| Quality Score |
224 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
77873580-77921365 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 77914595 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 130
(I130T)
|
| 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: I679T
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000044990
Gene: ENSMUSG00000037791
AA Change: I679T
| 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: I679T
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000103997
Gene: ENSMUSG00000037791
AA Change: I679T
| 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 |
unknown
Transcript: ENSMUST00000123662
AA Change: I17T
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125079
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000131680
AA Change: I25T
PolyPhen 2
Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141620
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000153428
AA Change: I130T
PolyPhen 2
Score 0.745 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000119390
Gene: ENSMUSG00000037791
AA Change: I130T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
67 |
81 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000153747
AA Change: I47T
|
| Meta Mutation Damage Score |
0.0885 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
100% (37/37) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alpk3 |
A |
G |
7: 80,749,940 (GRCm39) |
S1453G |
probably damaging |
Het |
| Arhgap27 |
T |
C |
11: 103,251,669 (GRCm39) |
|
probably null |
Het |
| Casp1 |
A |
T |
9: 5,299,851 (GRCm39) |
H108L |
probably benign |
Het |
| Cerk |
A |
G |
15: 86,027,084 (GRCm39) |
F142S |
probably damaging |
Het |
| Cmip |
A |
G |
8: 118,111,704 (GRCm39) |
N145S |
probably benign |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Cyp4b1 |
C |
T |
4: 115,492,849 (GRCm39) |
D287N |
probably damaging |
Het |
| Dlx2 |
G |
A |
2: 71,375,808 (GRCm39) |
R172* |
probably null |
Het |
| Dnah11 |
G |
A |
12: 117,951,162 (GRCm39) |
Q1145* |
probably null |
Het |
| Dock2 |
A |
T |
11: 34,580,593 (GRCm39) |
I659N |
probably damaging |
Het |
| Dync2h1 |
G |
C |
9: 7,102,329 (GRCm39) |
F2690L |
probably damaging |
Het |
| Fcrl5 |
A |
G |
3: 87,364,698 (GRCm39) |
Y566C |
probably damaging |
Het |
| Ift57 |
T |
C |
16: 49,584,114 (GRCm39) |
V289A |
probably damaging |
Het |
| Lrrc46 |
G |
A |
11: 96,925,806 (GRCm39) |
R219C |
probably damaging |
Het |
| Mapk1 |
A |
G |
16: 16,844,309 (GRCm39) |
N269S |
probably benign |
Het |
| Mrgprb1 |
A |
T |
7: 48,097,469 (GRCm39) |
Y148N |
probably damaging |
Het |
| Mzt2 |
G |
T |
16: 15,680,780 (GRCm39) |
A3E |
unknown |
Het |
| Naif1 |
C |
T |
2: 32,344,887 (GRCm39) |
P197L |
probably benign |
Het |
| Obscn |
A |
T |
11: 58,977,574 (GRCm39) |
V1959E |
probably damaging |
Het |
| Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
| Plekhg3 |
T |
C |
12: 76,611,735 (GRCm39) |
V338A |
probably benign |
Het |
| Prl3b1 |
A |
T |
13: 27,433,505 (GRCm39) |
N220I |
probably damaging |
Het |
| Rusc2 |
A |
G |
4: 43,415,456 (GRCm39) |
Q254R |
probably benign |
Het |
| Ryr1 |
G |
T |
7: 28,774,223 (GRCm39) |
R2404S |
probably damaging |
Het |
| Setdb1 |
A |
G |
3: 95,247,506 (GRCm39) |
I463T |
probably benign |
Het |
| Setx |
T |
G |
2: 29,038,637 (GRCm39) |
C1707W |
probably damaging |
Het |
| Siglec1 |
A |
G |
2: 130,914,667 (GRCm39) |
F1483S |
possibly damaging |
Het |
| Sis |
G |
A |
3: 72,816,506 (GRCm39) |
P1515S |
probably benign |
Het |
| Sit1 |
C |
T |
4: 43,483,314 (GRCm39) |
R50H |
possibly damaging |
Het |
| Smc6 |
T |
C |
12: 11,326,294 (GRCm39) |
V97A |
probably damaging |
Het |
| Ttc39d |
A |
G |
17: 80,524,144 (GRCm39) |
S268G |
probably benign |
Het |
| Ube2frt |
A |
G |
12: 36,140,574 (GRCm39) |
|
probably benign |
Het |
| Utrn |
A |
T |
10: 12,615,105 (GRCm39) |
|
probably null |
Het |
| Vmn2r60 |
T |
A |
7: 41,790,403 (GRCm39) |
D463E |
possibly damaging |
Het |
| Vmn2r91 |
A |
T |
17: 18,325,628 (GRCm39) |
Y82F |
probably benign |
Het |
| Zfp709 |
A |
T |
8: 72,643,549 (GRCm39) |
D325V |
probably benign |
Het |
| Znrf3 |
A |
T |
11: 5,239,693 (GRCm39) |
D58E |
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 |
|
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'- AGAGGAGTTTGGTACCCGTC -3'
(R):5'- AACACAGCCTTTCATCTGCC -3'
Sequencing Primer
(F):5'- AGTTTGGTACCCGTCCCAAG -3'
(R):5'- ACAGCCTTTCATCTGCCATAAG -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation