Incidental Mutation 'R5807:Phf12'
| ID |
448601 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Phf12
|
| Ensembl Gene |
ENSMUSG00000037791 |
| Gene Name |
PHD finger protein 12 |
| Synonyms |
PF1, 2410142K10Rik |
| MMRRC Submission |
043393-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.713)
|
| Stock # |
R5807 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
77873580-77921365 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 77913252 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 401
(D401E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103997
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049167]
[ENSMUST00000108360]
[ENSMUST00000131680]
[ENSMUST00000153428]
|
| AlphaFold |
Q5SPL2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000049167
AA Change: D401E
PolyPhen 2
Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000044990
Gene: ENSMUSG00000037791
AA Change: D401E
| 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: D401E
PolyPhen 2
Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000103997
Gene: ENSMUSG00000037791
AA Change: D401E
| 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
|
| Meta Mutation Damage Score |
0.0800 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
98% (65/66) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
A |
G |
1: 71,342,651 (GRCm39) |
L943P |
probably damaging |
Het |
| Abcg5 |
C |
A |
17: 84,979,719 (GRCm39) |
V214F |
probably damaging |
Het |
| Ang |
T |
A |
14: 51,338,886 (GRCm39) |
|
probably benign |
Het |
| Arfgef3 |
A |
G |
10: 18,523,546 (GRCm39) |
|
probably null |
Het |
| Arhgef4 |
A |
G |
1: 34,846,696 (GRCm39) |
|
probably benign |
Het |
| Atp11b |
T |
C |
3: 35,866,428 (GRCm39) |
I409T |
probably damaging |
Het |
| Atp5f1b |
G |
A |
10: 127,924,431 (GRCm39) |
|
probably benign |
Het |
| Atp9a |
G |
A |
2: 168,495,454 (GRCm39) |
A660V |
probably damaging |
Het |
| Avpr1a |
A |
G |
10: 122,285,376 (GRCm39) |
T223A |
probably benign |
Het |
| Bmp2k |
T |
C |
5: 97,211,353 (GRCm39) |
M507T |
unknown |
Het |
| Cep295 |
A |
G |
9: 15,243,828 (GRCm39) |
S287P |
probably damaging |
Het |
| Chrna7 |
T |
A |
7: 62,798,349 (GRCm39) |
D111V |
probably damaging |
Het |
| Clxn |
A |
T |
16: 14,734,836 (GRCm39) |
I69F |
probably benign |
Het |
| Cnr2 |
A |
G |
4: 135,644,747 (GRCm39) |
D275G |
probably benign |
Het |
| Col28a1 |
T |
A |
6: 8,158,144 (GRCm39) |
M305L |
probably benign |
Het |
| Cpb1 |
T |
A |
3: 20,317,906 (GRCm39) |
D206V |
probably damaging |
Het |
| Cyp2c50 |
T |
C |
19: 40,101,944 (GRCm39) |
L453S |
probably damaging |
Het |
| Ddx52 |
T |
G |
11: 83,840,508 (GRCm39) |
S284A |
probably benign |
Het |
| Eif2ak4 |
G |
T |
2: 118,219,332 (GRCm39) |
R48L |
probably benign |
Het |
| Esrrb |
A |
G |
12: 86,561,175 (GRCm39) |
E303G |
possibly damaging |
Het |
| Fbxo21 |
A |
G |
5: 118,114,933 (GRCm39) |
E23G |
probably benign |
Het |
| Fcamr |
T |
C |
1: 130,739,263 (GRCm39) |
S188P |
probably damaging |
Het |
| Fer1l6 |
C |
A |
15: 58,462,399 (GRCm39) |
S818* |
probably null |
Het |
| Fn1 |
T |
C |
1: 71,687,218 (GRCm39) |
D213G |
probably damaging |
Het |
| Gcg |
A |
G |
2: 62,306,069 (GRCm39) |
I176T |
possibly damaging |
Het |
| Glis1 |
T |
A |
4: 107,425,279 (GRCm39) |
S109T |
probably benign |
Het |
| Gm266 |
T |
C |
12: 111,452,173 (GRCm39) |
D11G |
probably benign |
Het |
| Gm5070 |
C |
A |
3: 95,317,965 (GRCm39) |
|
noncoding transcript |
Het |
| Gm8444 |
T |
C |
15: 81,727,654 (GRCm39) |
|
probably benign |
Het |
| Golga4 |
A |
G |
9: 118,356,198 (GRCm39) |
T117A |
probably damaging |
Het |
| Gpr132 |
G |
A |
12: 112,816,416 (GRCm39) |
R137C |
probably damaging |
Het |
| Gvin-ps5 |
T |
A |
7: 105,929,430 (GRCm39) |
|
noncoding transcript |
Het |
| Herc2 |
T |
A |
7: 55,880,667 (GRCm39) |
F4766L |
probably damaging |
Het |
| Inhbc |
C |
A |
10: 127,193,411 (GRCm39) |
E202* |
probably null |
Het |
| Kcnu1 |
C |
T |
8: 26,339,742 (GRCm39) |
T20I |
possibly damaging |
Het |
| Klhdc3 |
T |
C |
17: 46,988,391 (GRCm39) |
D161G |
probably damaging |
Het |
| Krt84 |
T |
A |
15: 101,438,647 (GRCm39) |
K280M |
probably damaging |
Het |
| Krtap9-5 |
T |
A |
11: 99,839,895 (GRCm39) |
C199S |
unknown |
Het |
| Mrgprb3 |
A |
G |
7: 48,293,110 (GRCm39) |
V147A |
probably benign |
Het |
| Ndufs6 |
A |
T |
13: 73,475,553 (GRCm39) |
F48L |
probably damaging |
Het |
| Obscn |
T |
C |
11: 58,970,476 (GRCm39) |
S2586G |
probably damaging |
Het |
| Or10n1 |
A |
G |
9: 39,525,759 (GRCm39) |
R299G |
probably benign |
Het |
| Or13c7b |
C |
A |
4: 43,820,912 (GRCm39) |
V150L |
probably benign |
Het |
| Or51a25 |
C |
T |
7: 102,373,409 (GRCm39) |
R96H |
possibly damaging |
Het |
| Osbpl6 |
A |
G |
2: 76,414,857 (GRCm39) |
D416G |
probably damaging |
Het |
| Pdilt |
A |
G |
7: 119,099,766 (GRCm39) |
|
probably benign |
Het |
| Pla2r1 |
C |
T |
2: 60,259,065 (GRCm39) |
V1108M |
possibly damaging |
Het |
| Prim2 |
A |
G |
1: 33,519,487 (GRCm39) |
|
probably benign |
Het |
| Ptpn6 |
T |
C |
6: 124,701,947 (GRCm39) |
H406R |
probably benign |
Het |
| Qpctl |
G |
T |
7: 18,877,132 (GRCm39) |
H329N |
probably damaging |
Het |
| Ripk3 |
T |
A |
14: 56,022,755 (GRCm39) |
N390Y |
probably damaging |
Het |
| Rnase1 |
A |
G |
14: 51,382,907 (GRCm39) |
V149A |
probably benign |
Het |
| Rtn3 |
T |
A |
19: 7,434,192 (GRCm39) |
D581V |
probably damaging |
Het |
| Slamf1 |
A |
G |
1: 171,602,630 (GRCm39) |
Y119C |
probably damaging |
Het |
| Slc25a34 |
A |
G |
4: 141,350,973 (GRCm39) |
M12T |
probably benign |
Het |
| Tmem38a |
A |
G |
8: 73,333,944 (GRCm39) |
Y141C |
probably damaging |
Het |
| Tnr |
C |
T |
1: 159,714,500 (GRCm39) |
T793I |
possibly damaging |
Het |
| Tns3 |
T |
C |
11: 8,443,211 (GRCm39) |
D384G |
probably damaging |
Het |
| Vmn2r116 |
T |
A |
17: 23,606,281 (GRCm39) |
Y398N |
probably damaging |
Het |
| Wee1 |
TCCCC |
TCCC |
7: 109,723,776 (GRCm39) |
|
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 |
|
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 |
|
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'- ACAGAGTAGATGATCCCTTGGG -3'
(R):5'- TTGGGATTCTCCAAGGGACAC -3'
Sequencing Primer
(F):5'- GCACCAGCCCTTCAATCAAAATAG -3'
(R):5'- ACACTCAAGTTTTAGGGGCC -3'
|
| Posted On |
2016-12-15 |
Incidental Mutation