Incidental Mutation 'R6208:Phf12'
| ID |
503276 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Phf12
|
| Ensembl Gene |
ENSMUSG00000037791 |
| Gene Name |
PHD finger protein 12 |
| Synonyms |
PF1, 2410142K10Rik |
| MMRRC Submission |
044342-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.704)
|
| Stock # |
R6208 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
77873580-77921365 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 77914417 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Phenylalanine
at position 71
(V71F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119390
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049167]
[ENSMUST00000108360]
[ENSMUST00000131680]
[ENSMUST00000153428]
|
| AlphaFold |
Q5SPL2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000049167
AA Change: V620F
PolyPhen 2
Score 0.505 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000044990
Gene: ENSMUSG00000037791
AA Change: V620F
| 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 |
possibly damaging
Transcript: ENSMUST00000108360
AA Change: V620F
PolyPhen 2
Score 0.505 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000103997
Gene: ENSMUSG00000037791
AA Change: V620F
| 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: V71F
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000119390
Gene: ENSMUSG00000037791
AA Change: V71F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
67 |
81 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153747
|
| Meta Mutation Damage Score |
0.0773 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
98% (57/58) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actl6a |
A |
T |
3: 32,766,043 (GRCm39) |
I18F |
probably benign |
Het |
| Apol11a |
C |
T |
15: 77,401,241 (GRCm39) |
R243C |
probably damaging |
Het |
| Asap3 |
A |
G |
4: 135,968,508 (GRCm39) |
M687V |
probably benign |
Het |
| Axdnd1 |
C |
T |
1: 156,220,426 (GRCm39) |
|
probably benign |
Het |
| Baz2b |
A |
G |
2: 59,755,150 (GRCm39) |
F1026S |
probably damaging |
Het |
| Bsg |
T |
C |
10: 79,544,672 (GRCm39) |
L70P |
probably damaging |
Het |
| Col10a1 |
A |
G |
10: 34,270,582 (GRCm39) |
N185D |
possibly damaging |
Het |
| Col6a2 |
T |
A |
10: 76,450,891 (GRCm39) |
N50I |
possibly damaging |
Het |
| Cux2 |
G |
A |
5: 121,998,885 (GRCm39) |
P1352S |
possibly damaging |
Het |
| Defa25 |
A |
G |
8: 21,575,197 (GRCm39) |
|
probably null |
Het |
| Emc1 |
G |
T |
4: 139,081,582 (GRCm39) |
R70L |
probably damaging |
Het |
| Fat1 |
T |
C |
8: 45,480,650 (GRCm39) |
F3028S |
probably damaging |
Het |
| Fhit |
T |
C |
14: 9,573,435 (GRCm38) |
E205G |
probably benign |
Het |
| Gaa |
C |
A |
11: 119,171,997 (GRCm39) |
A700D |
probably benign |
Het |
| Gm20830 |
T |
G |
Y: 6,916,792 (GRCm39) |
E109A |
probably benign |
Homo |
| Grm1 |
A |
T |
10: 10,595,690 (GRCm39) |
F646Y |
probably damaging |
Het |
| Hp1bp3 |
A |
G |
4: 137,944,481 (GRCm39) |
|
probably benign |
Het |
| Lce1d |
G |
A |
3: 92,593,312 (GRCm39) |
P34S |
unknown |
Het |
| Lpar1 |
G |
A |
4: 58,504,630 (GRCm39) |
Q13* |
probably null |
Het |
| Lrrc61 |
C |
T |
6: 48,545,839 (GRCm39) |
R221* |
probably null |
Het |
| Map2 |
A |
G |
1: 66,470,749 (GRCm39) |
N328D |
probably damaging |
Het |
| Mndal |
T |
A |
1: 173,684,988 (GRCm39) |
D527V |
possibly damaging |
Het |
| Mycbp2 |
T |
G |
14: 103,532,664 (GRCm39) |
N430T |
probably benign |
Het |
| Myo1e |
A |
G |
9: 70,283,887 (GRCm39) |
Y861C |
probably damaging |
Het |
| Nav2 |
A |
G |
7: 49,213,851 (GRCm39) |
T1622A |
probably damaging |
Het |
| Nom1 |
A |
T |
5: 29,654,617 (GRCm39) |
H773L |
possibly damaging |
Het |
| Npc2 |
G |
T |
12: 84,803,919 (GRCm39) |
P144Q |
probably damaging |
Het |
| Npnt |
A |
G |
3: 132,655,774 (GRCm39) |
|
probably benign |
Het |
| Nxpe4 |
A |
T |
9: 48,304,678 (GRCm39) |
Y255F |
probably benign |
Het |
| Obscn |
G |
A |
11: 58,958,474 (GRCm39) |
A3769V |
possibly damaging |
Het |
| Optc |
T |
C |
1: 133,832,737 (GRCm39) |
D121G |
probably damaging |
Het |
| Pard6a |
T |
C |
8: 106,428,866 (GRCm39) |
F26L |
probably damaging |
Het |
| Pcdhga4 |
T |
A |
18: 37,819,762 (GRCm39) |
I437N |
probably damaging |
Het |
| Phf21b |
T |
A |
15: 84,679,317 (GRCm39) |
S282C |
probably damaging |
Het |
| Pou5f1 |
T |
C |
17: 35,821,357 (GRCm39) |
F323S |
possibly damaging |
Het |
| Psmd5 |
A |
T |
2: 34,757,023 (GRCm39) |
I67N |
probably damaging |
Het |
| Pyroxd1 |
A |
G |
6: 142,303,182 (GRCm39) |
K273R |
probably benign |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Rpusd1 |
A |
T |
17: 25,949,352 (GRCm39) |
H174L |
probably damaging |
Het |
| Ryr2 |
T |
C |
13: 11,910,106 (GRCm39) |
K94R |
probably benign |
Het |
| Scn2b |
A |
G |
9: 45,029,328 (GRCm39) |
R3G |
probably benign |
Het |
| Sf3b2 |
A |
T |
19: 5,325,126 (GRCm39) |
M782K |
possibly damaging |
Het |
| Skint7 |
A |
G |
4: 111,842,073 (GRCm39) |
|
probably null |
Het |
| Slc43a1 |
A |
G |
2: 84,687,184 (GRCm39) |
I319V |
possibly damaging |
Het |
| Snupn |
T |
A |
9: 56,890,247 (GRCm39) |
M356K |
probably damaging |
Het |
| Spata31d1a |
C |
A |
13: 59,848,378 (GRCm39) |
R1250M |
probably damaging |
Het |
| Sprr2h |
T |
C |
3: 92,294,216 (GRCm39) |
V21A |
unknown |
Het |
| Srpra |
A |
G |
9: 35,127,291 (GRCm39) |
T614A |
possibly damaging |
Het |
| Stk36 |
A |
T |
1: 74,650,591 (GRCm39) |
Q327L |
probably benign |
Het |
| Syne3 |
A |
G |
12: 104,909,622 (GRCm39) |
I738T |
probably benign |
Het |
| Tcea3 |
A |
T |
4: 135,975,360 (GRCm39) |
M1L |
probably damaging |
Het |
| Tead2 |
G |
T |
7: 44,867,526 (GRCm39) |
R85L |
probably damaging |
Het |
| Thap7 |
T |
C |
16: 17,346,300 (GRCm39) |
N228D |
possibly damaging |
Het |
| Trip11 |
T |
A |
12: 101,865,154 (GRCm39) |
E173V |
probably damaging |
Het |
| Ttc38 |
T |
A |
15: 85,725,698 (GRCm39) |
M187K |
possibly damaging |
Het |
| Vmn1r193 |
T |
A |
13: 22,403,138 (GRCm39) |
T285S |
possibly damaging |
Het |
| Vmn2r106 |
T |
C |
17: 20,488,591 (GRCm39) |
T603A |
probably damaging |
Het |
| Vps39 |
A |
T |
2: 120,163,897 (GRCm39) |
M355K |
probably damaging |
Het |
| Wnt5b |
G |
T |
6: 119,423,473 (GRCm39) |
L51I |
probably damaging |
Het |
| Xxylt1 |
A |
G |
16: 30,826,626 (GRCm39) |
Y230H |
probably benign |
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 |
|
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 |
|
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'- TACAGCAGCCCCACTGATTC -3'
(R):5'- AGAATCGTTGGTTGGCACCTG -3'
Sequencing Primer
(F):5'- ACTGATTCCACGGATCCCC -3'
(R):5'- ACCTGTGGCCAAGATACTGTC -3'
|
| Posted On |
2018-02-27 |
Incidental Mutation