Incidental Mutation 'IGL03117:Phf12'
ID |
419500 |
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 # |
IGL03117
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
77873580-77921365 bp(+) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
A to T
at 77913846 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049167]
[ENSMUST00000108360]
[ENSMUST00000131680]
[ENSMUST00000153428]
|
AlphaFold |
Q5SPL2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000049167
|
SMART Domains |
Protein: ENSMUSP00000044990 Gene: ENSMUSG00000037791
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
|
SMART Domains |
Protein: ENSMUSP00000103997 Gene: ENSMUSG00000037791
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 |
probably benign
Transcript: ENSMUST00000131680
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141620
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000153428
|
SMART Domains |
Protein: ENSMUSP00000119390 Gene: ENSMUSG00000037791
Domain | Start | End | E-Value | Type |
low complexity region
|
67 |
81 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000153747
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Cacna2d3 |
A |
G |
14: 29,189,909 (GRCm39) |
L109P |
probably damaging |
Het |
Caprin2 |
A |
T |
6: 148,763,964 (GRCm39) |
S568T |
possibly damaging |
Het |
Catip |
A |
G |
1: 74,403,744 (GRCm39) |
T154A |
probably null |
Het |
Ccdc187 |
A |
G |
2: 26,177,980 (GRCm39) |
S270P |
possibly damaging |
Het |
Ccdc88a |
A |
G |
11: 29,324,559 (GRCm39) |
Y39C |
probably damaging |
Het |
Chrdl2 |
A |
T |
7: 99,676,787 (GRCm39) |
H203L |
possibly damaging |
Het |
Chrnb2 |
A |
G |
3: 89,670,552 (GRCm39) |
V62A |
probably damaging |
Het |
Cklf |
T |
A |
8: 104,984,055 (GRCm39) |
S73T |
possibly damaging |
Het |
Clk1 |
A |
G |
1: 58,456,166 (GRCm39) |
|
probably null |
Het |
Ctdp1 |
T |
C |
18: 80,492,716 (GRCm39) |
D593G |
probably damaging |
Het |
Ctsc |
A |
T |
7: 87,958,988 (GRCm39) |
I423F |
probably damaging |
Het |
D130043K22Rik |
T |
A |
13: 25,073,825 (GRCm39) |
V968E |
probably damaging |
Het |
Dennd4c |
A |
G |
4: 86,696,140 (GRCm39) |
S166G |
possibly damaging |
Het |
Dnah2 |
G |
T |
11: 69,327,117 (GRCm39) |
|
probably benign |
Het |
Dnajb11 |
G |
T |
16: 22,687,888 (GRCm39) |
R206L |
probably benign |
Het |
Dsel |
A |
T |
1: 111,786,908 (GRCm39) |
|
probably benign |
Het |
Ehd2 |
T |
C |
7: 15,684,396 (GRCm39) |
S468G |
possibly damaging |
Het |
Ehmt2 |
T |
A |
17: 35,125,787 (GRCm39) |
V640E |
possibly damaging |
Het |
Elmo2 |
T |
A |
2: 165,140,573 (GRCm39) |
E299D |
probably benign |
Het |
Eps8l1 |
T |
C |
7: 4,473,886 (GRCm39) |
L231P |
probably damaging |
Het |
Esd |
A |
G |
14: 74,978,686 (GRCm39) |
T83A |
probably damaging |
Het |
Flt3 |
A |
G |
5: 147,293,020 (GRCm39) |
F529L |
probably benign |
Het |
Hnrnpu |
G |
A |
1: 178,158,339 (GRCm39) |
|
probably benign |
Het |
Hpx |
G |
T |
7: 105,249,278 (GRCm39) |
A7E |
possibly damaging |
Het |
Ighv6-5 |
C |
T |
12: 114,380,320 (GRCm39) |
V85M |
possibly damaging |
Het |
Itpr3 |
G |
A |
17: 27,338,240 (GRCm39) |
V2503I |
probably damaging |
Het |
Itprid1 |
A |
G |
6: 55,875,114 (GRCm39) |
T355A |
probably benign |
Het |
Matr3 |
G |
T |
18: 35,705,710 (GRCm39) |
G212C |
probably damaging |
Het |
Mrpl35 |
A |
T |
6: 71,793,263 (GRCm39) |
Y129* |
probably null |
Het |
Myh2 |
T |
C |
11: 67,071,710 (GRCm39) |
I509T |
possibly damaging |
Het |
Nat8l |
G |
T |
5: 34,158,288 (GRCm39) |
A233S |
probably damaging |
Het |
Nipbl |
A |
C |
15: 8,361,936 (GRCm39) |
L1447W |
probably damaging |
Het |
Paf1 |
T |
A |
7: 28,094,481 (GRCm39) |
C31S |
possibly damaging |
Het |
Parp4 |
A |
C |
14: 56,840,313 (GRCm39) |
T573P |
probably benign |
Het |
Pi4k2b |
A |
G |
5: 52,905,765 (GRCm39) |
E102G |
probably benign |
Het |
Pou2f1 |
A |
G |
1: 165,762,382 (GRCm39) |
C7R |
probably benign |
Het |
Prpsap2 |
T |
C |
11: 61,631,815 (GRCm39) |
R181G |
probably benign |
Het |
Psd |
A |
G |
19: 46,311,561 (GRCm39) |
|
probably benign |
Het |
Ptgds |
T |
C |
2: 25,359,622 (GRCm39) |
T22A |
probably benign |
Het |
Rab21 |
A |
T |
10: 115,151,097 (GRCm39) |
|
probably null |
Het |
Relb |
T |
C |
7: 19,346,582 (GRCm39) |
D330G |
probably damaging |
Het |
Rhoc |
A |
T |
3: 104,700,236 (GRCm39) |
T100S |
probably benign |
Het |
Ryr1 |
G |
T |
7: 28,802,389 (GRCm39) |
H744N |
probably damaging |
Het |
Sardh |
C |
T |
2: 27,129,458 (GRCm39) |
G280D |
probably damaging |
Het |
Scyl2 |
A |
C |
10: 89,493,729 (GRCm39) |
N346K |
possibly damaging |
Het |
Sec16b |
T |
C |
1: 157,362,970 (GRCm39) |
F267S |
probably damaging |
Het |
Slc44a5 |
T |
A |
3: 153,956,714 (GRCm39) |
M322K |
probably benign |
Het |
St8sia4 |
T |
A |
1: 95,519,508 (GRCm39) |
N327Y |
probably benign |
Het |
Tbl1xr1 |
T |
A |
3: 22,257,323 (GRCm39) |
Y395* |
probably null |
Het |
Unc13c |
A |
T |
9: 73,441,307 (GRCm39) |
S1897R |
probably benign |
Het |
Vangl2 |
A |
G |
1: 171,840,415 (GRCm39) |
S58P |
probably damaging |
Het |
Vmn1r17 |
A |
G |
6: 57,337,501 (GRCm39) |
I288T |
probably benign |
Het |
Vmn1r236 |
A |
G |
17: 21,507,508 (GRCm39) |
I209V |
probably benign |
Het |
Zfp809 |
A |
G |
9: 22,149,950 (GRCm39) |
Y149C |
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 |
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 |
2016-08-02 |