Incidental Mutation 'R0905:Phf12'
ID |
83299 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Phf12
|
Ensembl Gene |
ENSMUSG00000037791 |
Gene Name |
PHD finger protein 12 |
Synonyms |
PF1, 2410142K10Rik |
MMRRC Submission |
039063-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.704)
|
Stock # |
R0905 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
77873580-77921365 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to T
at 77900230 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Stop codon
at position 109
(R109*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103997
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049167]
[ENSMUST00000108360]
|
AlphaFold |
Q5SPL2 |
Predicted Effect |
probably null
Transcript: ENSMUST00000049167
AA Change: R109*
|
SMART Domains |
Protein: ENSMUSP00000044990 Gene: ENSMUSG00000037791 AA Change: R109*
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 null
Transcript: ENSMUST00000108360
AA Change: R109*
|
SMART Domains |
Protein: ENSMUSP00000103997 Gene: ENSMUSG00000037791 AA Change: R109*
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 |
|
Meta Mutation Damage Score |
0.9756 |
Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.9%
- 10x: 96.9%
- 20x: 92.6%
|
Validation Efficiency |
100% (42/42) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arhgap21 |
G |
A |
2: 20,854,745 (GRCm39) |
T1539M |
possibly damaging |
Het |
Birc2 |
A |
T |
9: 7,851,052 (GRCm39) |
*138R |
probably null |
Het |
Bsn |
C |
A |
9: 107,982,834 (GRCm39) |
D3640Y |
unknown |
Het |
Bsph1 |
A |
T |
7: 13,184,839 (GRCm39) |
M1L |
probably benign |
Het |
Cdkl1 |
A |
T |
12: 69,803,338 (GRCm39) |
Y179* |
probably null |
Het |
Cfap74 |
G |
A |
4: 155,503,153 (GRCm39) |
|
probably null |
Het |
Crtc1 |
A |
T |
8: 70,843,905 (GRCm39) |
S454T |
probably damaging |
Het |
Cspg5 |
A |
T |
9: 110,075,594 (GRCm39) |
D110V |
probably damaging |
Het |
Cyp2w1 |
A |
T |
5: 139,342,194 (GRCm39) |
Y380F |
probably benign |
Het |
Dbn1 |
T |
C |
13: 55,622,040 (GRCm39) |
|
probably benign |
Het |
Epb41l4b |
T |
C |
4: 57,103,528 (GRCm39) |
K103E |
probably damaging |
Het |
Eps8 |
C |
T |
6: 137,491,305 (GRCm39) |
V358I |
probably benign |
Het |
Gm12253 |
G |
T |
11: 58,330,846 (GRCm39) |
|
probably benign |
Het |
Hltf |
T |
A |
3: 20,163,033 (GRCm39) |
|
probably null |
Het |
Hsd17b11 |
C |
T |
5: 104,157,744 (GRCm39) |
V123I |
probably benign |
Het |
Il31ra |
T |
A |
13: 112,668,207 (GRCm39) |
E481V |
probably damaging |
Het |
Impdh2 |
A |
G |
9: 108,438,296 (GRCm39) |
|
probably benign |
Het |
Itih5 |
G |
A |
2: 10,253,999 (GRCm39) |
R750Q |
probably benign |
Het |
Kndc1 |
A |
C |
7: 139,503,651 (GRCm39) |
K985T |
possibly damaging |
Het |
Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
Lgsn |
A |
T |
1: 31,242,824 (GRCm39) |
Y302F |
probably damaging |
Het |
Lrp1b |
A |
G |
2: 41,174,197 (GRCm39) |
S1541P |
probably damaging |
Het |
Mast4 |
A |
G |
13: 102,907,292 (GRCm39) |
M528T |
probably damaging |
Het |
Mzf1 |
C |
A |
7: 12,786,698 (GRCm39) |
R124L |
possibly damaging |
Het |
Ndufs2 |
T |
C |
1: 171,063,922 (GRCm39) |
|
probably null |
Het |
Nwd1 |
G |
A |
8: 73,436,077 (GRCm39) |
V1436M |
probably damaging |
Het |
Pml |
A |
G |
9: 58,156,822 (GRCm39) |
|
probably null |
Het |
Ppfia2 |
T |
C |
10: 106,655,372 (GRCm39) |
I313T |
probably benign |
Het |
Prdm14 |
C |
T |
1: 13,195,662 (GRCm39) |
G133D |
probably benign |
Het |
Ptgr3 |
A |
G |
18: 84,113,332 (GRCm39) |
H336R |
probably benign |
Het |
Pygl |
A |
G |
12: 70,257,791 (GRCm39) |
|
probably benign |
Het |
Rassf10 |
C |
T |
7: 112,554,575 (GRCm39) |
T392M |
probably damaging |
Het |
Rpe65 |
T |
C |
3: 159,307,220 (GRCm39) |
S54P |
possibly damaging |
Het |
Sema5b |
T |
C |
16: 35,443,001 (GRCm39) |
V2A |
probably benign |
Het |
Sgsm3 |
T |
C |
15: 80,895,546 (GRCm39) |
I699T |
probably damaging |
Het |
Spn |
T |
C |
7: 126,735,503 (GRCm39) |
T335A |
probably damaging |
Het |
Tecta |
T |
C |
9: 42,250,290 (GRCm39) |
D1834G |
probably damaging |
Het |
Trp53bp1 |
C |
A |
2: 121,034,799 (GRCm39) |
|
probably benign |
Het |
Ttc3 |
A |
T |
16: 94,257,648 (GRCm39) |
K1652* |
probably null |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- ATGCTCTAAGCAAGTGACAGTGACC -3'
(R):5'- ACGTCAACGATGTCCTCATCGAC -3'
Sequencing Primer
(F):5'- gctcacaactgcctacaactc -3'
(R):5'- ACGTCATTATGCTCAGAGGTG -3'
|
Posted On |
2013-11-08 |