Incidental Mutation 'R5020:Phf12'
ID |
389158 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Phf12
|
Ensembl Gene |
ENSMUSG00000037791 |
Gene Name |
PHD finger protein 12 |
Synonyms |
PF1, 2410142K10Rik |
MMRRC Submission |
042611-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.704)
|
Stock # |
R5020 (G1)
|
Quality Score |
208 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
77873580-77921365 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 77914622 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Serine
at position 139
(F139S)
|
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: F688S
PolyPhen 2
Score 0.300 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000044990 Gene: ENSMUSG00000037791 AA Change: F688S
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: F688S
PolyPhen 2
Score 0.300 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000103997 Gene: ENSMUSG00000037791 AA Change: F688S
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: F26S
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125079
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000131680
AA Change: F34S
PolyPhen 2
Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141620
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000153428
AA Change: F139S
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000119390 Gene: ENSMUSG00000037791 AA Change: F139S
Domain | Start | End | E-Value | Type |
low complexity region
|
67 |
81 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000153747
AA Change: F56S
|
Meta Mutation Damage Score |
0.0737 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.1%
|
Validation Efficiency |
99% (72/73) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acadsb |
A |
T |
7: 131,042,929 (GRCm39) |
|
probably null |
Het |
Actl6a |
A |
G |
3: 32,774,656 (GRCm39) |
I340V |
possibly damaging |
Het |
Alppl2 |
C |
T |
1: 87,017,431 (GRCm39) |
V19I |
probably benign |
Het |
Ankrd34c |
T |
C |
9: 89,611,759 (GRCm39) |
K194R |
probably benign |
Het |
Anpep |
T |
A |
7: 79,483,475 (GRCm39) |
M672L |
probably benign |
Het |
Arhgap31 |
T |
C |
16: 38,423,438 (GRCm39) |
D876G |
probably damaging |
Het |
Arid2 |
T |
A |
15: 96,269,869 (GRCm39) |
N1327K |
probably damaging |
Het |
Atp5f1d |
C |
A |
10: 79,981,263 (GRCm39) |
P101Q |
probably benign |
Het |
Bcl7b |
G |
A |
5: 135,200,017 (GRCm39) |
|
probably null |
Het |
Brca2 |
A |
T |
5: 150,483,901 (GRCm39) |
S2907C |
probably damaging |
Het |
Ccser2 |
T |
C |
14: 36,662,134 (GRCm39) |
E350G |
probably benign |
Het |
Cdh23 |
G |
T |
10: 60,143,811 (GRCm39) |
D2929E |
probably damaging |
Het |
Clec2i |
T |
A |
6: 128,870,621 (GRCm39) |
V78E |
probably benign |
Het |
Cpxm1 |
A |
T |
2: 130,237,897 (GRCm39) |
|
probably null |
Het |
Crybg3 |
C |
T |
16: 59,375,159 (GRCm39) |
V2032I |
possibly damaging |
Het |
Eif5b |
A |
T |
1: 38,058,150 (GRCm39) |
K151* |
probably null |
Het |
Gemin7 |
T |
A |
7: 19,299,348 (GRCm39) |
E82D |
possibly damaging |
Het |
Gm14496 |
A |
G |
2: 181,633,152 (GRCm39) |
E45G |
possibly damaging |
Het |
Gm21915 |
T |
C |
9: 40,581,966 (GRCm39) |
S20P |
probably damaging |
Het |
Gm8126 |
A |
C |
14: 43,119,026 (GRCm39) |
E165A |
probably damaging |
Het |
Grin2b |
T |
C |
6: 135,710,405 (GRCm39) |
D1047G |
probably benign |
Het |
Igkv4-80 |
A |
C |
6: 68,993,649 (GRCm39) |
S81A |
probably benign |
Het |
Ikbke |
T |
A |
1: 131,201,397 (GRCm39) |
Y150F |
probably damaging |
Het |
Inhca |
T |
C |
9: 103,159,701 (GRCm39) |
D70G |
probably benign |
Het |
Itih5 |
T |
A |
2: 10,245,315 (GRCm39) |
|
probably null |
Het |
Lrig2 |
T |
C |
3: 104,365,217 (GRCm39) |
Q645R |
possibly damaging |
Het |
Map4 |
A |
G |
9: 109,897,868 (GRCm39) |
M712V |
probably benign |
Het |
Mecom |
A |
G |
3: 30,015,255 (GRCm39) |
S823P |
probably damaging |
Het |
Mettl25 |
A |
G |
10: 105,662,068 (GRCm39) |
Y301H |
possibly damaging |
Het |
Mga |
A |
T |
2: 119,781,654 (GRCm39) |
K2136* |
probably null |
Het |
Mmp24 |
A |
G |
2: 155,652,204 (GRCm39) |
E304G |
probably benign |
Het |
Mmp3 |
T |
A |
9: 7,445,984 (GRCm39) |
D29E |
probably benign |
Het |
Nbas |
T |
A |
12: 13,424,713 (GRCm39) |
I984N |
probably damaging |
Het |
Nedd9 |
A |
G |
13: 41,469,270 (GRCm39) |
Y628H |
probably damaging |
Het |
Nlrp2 |
C |
T |
7: 5,331,076 (GRCm39) |
C440Y |
probably damaging |
Het |
Or4g16 |
T |
C |
2: 111,136,637 (GRCm39) |
V29A |
probably benign |
Het |
Or6p1 |
T |
G |
1: 174,258,237 (GRCm39) |
L81R |
probably damaging |
Het |
P4ha2 |
T |
C |
11: 54,022,016 (GRCm39) |
V513A |
probably damaging |
Het |
Pcsk4 |
T |
C |
10: 80,161,869 (GRCm39) |
N124S |
probably benign |
Het |
Phlpp2 |
T |
A |
8: 110,666,714 (GRCm39) |
L1081H |
probably damaging |
Het |
Phospho2 |
T |
A |
2: 69,626,323 (GRCm39) |
F160I |
probably damaging |
Het |
Plch2 |
T |
G |
4: 155,091,540 (GRCm39) |
D115A |
probably damaging |
Het |
Plekho1 |
A |
G |
3: 95,896,851 (GRCm39) |
F215S |
probably damaging |
Het |
Psma4 |
C |
A |
9: 54,860,056 (GRCm39) |
A47E |
probably damaging |
Het |
Rasa4 |
A |
C |
5: 136,130,153 (GRCm39) |
Q303P |
probably damaging |
Het |
Rbmxl2 |
C |
T |
7: 106,809,414 (GRCm39) |
P233L |
probably damaging |
Het |
Reln |
A |
T |
5: 22,239,636 (GRCm39) |
L877H |
probably damaging |
Het |
Rtel1 |
A |
G |
2: 180,964,307 (GRCm39) |
|
probably null |
Het |
Septin12 |
T |
C |
16: 4,811,620 (GRCm39) |
D116G |
probably damaging |
Het |
Son |
T |
A |
16: 91,453,263 (GRCm39) |
V670E |
probably damaging |
Het |
Spag9 |
T |
A |
11: 93,988,612 (GRCm39) |
I544N |
probably benign |
Het |
Spsb3 |
T |
G |
17: 25,106,036 (GRCm39) |
|
probably benign |
Het |
Tcstv2c |
T |
C |
13: 120,616,652 (GRCm39) |
F164L |
possibly damaging |
Het |
Tgfbr3 |
T |
C |
5: 107,362,836 (GRCm39) |
T59A |
probably damaging |
Het |
Tsc1 |
T |
A |
2: 28,566,531 (GRCm39) |
I649K |
probably damaging |
Het |
Txndc9 |
T |
C |
1: 38,034,793 (GRCm39) |
D37G |
probably benign |
Het |
Uba7 |
C |
T |
9: 107,856,113 (GRCm39) |
A496V |
probably benign |
Het |
Usf3 |
T |
A |
16: 44,035,889 (GRCm39) |
I123N |
probably damaging |
Het |
Vmn1r184 |
T |
A |
7: 25,966,955 (GRCm39) |
S234T |
possibly damaging |
Het |
Vsig10l |
C |
A |
7: 43,114,741 (GRCm39) |
S314* |
probably null |
Het |
Wdfy4 |
A |
G |
14: 32,801,892 (GRCm39) |
F1922S |
probably damaging |
Het |
Zfp219 |
C |
T |
14: 52,247,112 (GRCm39) |
R5H |
probably damaging |
Het |
Zfp946 |
G |
T |
17: 22,674,584 (GRCm39) |
C446F |
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 |
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'- AGTTTGGTACCCGTCCCAAG -3'
(R):5'- GCTAACACAGCCTTTCATCTG -3'
Sequencing Primer
(F):5'- CCCAGCTCTTGTGCCAG -3'
(R):5'- ACAGCCTTTCATCTGCCATAAG -3'
|
Posted On |
2016-06-06 |