Incidental Mutation 'IGL02808:Phf11d'
| ID |
360492 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Phf11d
|
| Ensembl Gene |
ENSMUSG00000068245 |
| Gene Name |
PHD finger protein 11D |
| Synonyms |
D14Ertd668e |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.082)
|
| Stock # |
IGL02808
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
59584856-59602919 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 59586739 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 298
(Q298K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125181
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095157]
[ENSMUST00000160425]
[ENSMUST00000161031]
|
| AlphaFold |
A6H5X4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000095157
AA Change: Q298K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000092779
Gene: ENSMUSG00000068245
AA Change: Q298K
| Domain | Start | End | E-Value | Type |
|---|
|
PHD
|
92 |
143 |
3.03e-4 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000160425
AA Change: Q230K
PolyPhen 2
Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000124578
Gene: ENSMUSG00000068245
AA Change: Q230K
| Domain | Start | End | E-Value | Type |
|---|
|
PHD
|
92 |
143 |
3.03e-4 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000161031
AA Change: Q298K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000125181
Gene: ENSMUSG00000068245
AA Change: Q298K
| Domain | Start | End | E-Value | Type |
|---|
|
PHD
|
92 |
143 |
3.03e-4 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161754
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for an ENU mutated allele exhibit a change in the expression levels of immune response gene after LPS exposure. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adk |
C |
T |
14: 21,153,901 (GRCm39) |
P35S |
probably benign |
Het |
| Ankmy1 |
T |
A |
1: 92,814,388 (GRCm39) |
D373V |
probably damaging |
Het |
| Aox3 |
A |
G |
1: 58,181,859 (GRCm39) |
Y282C |
probably damaging |
Het |
| Bcas3 |
A |
G |
11: 85,386,677 (GRCm39) |
T371A |
probably benign |
Het |
| Bckdhb |
T |
C |
9: 83,870,898 (GRCm39) |
V136A |
probably benign |
Het |
| Ccdc18 |
G |
T |
5: 108,283,835 (GRCm39) |
|
probably benign |
Het |
| Cdc25a |
T |
A |
9: 109,712,667 (GRCm39) |
|
probably null |
Het |
| Ckap5 |
T |
A |
2: 91,426,859 (GRCm39) |
Y1394N |
probably damaging |
Het |
| Dhx15 |
A |
G |
5: 52,319,041 (GRCm39) |
V458A |
possibly damaging |
Het |
| Dram1 |
T |
C |
10: 88,172,786 (GRCm39) |
Y136C |
probably damaging |
Het |
| Dusp19 |
A |
G |
2: 80,447,815 (GRCm39) |
K30E |
probably benign |
Het |
| Elmo2 |
T |
C |
2: 165,133,627 (GRCm39) |
|
probably benign |
Het |
| Fcho1 |
G |
A |
8: 72,165,185 (GRCm39) |
S424L |
possibly damaging |
Het |
| Ganc |
A |
G |
2: 120,241,992 (GRCm39) |
T57A |
probably benign |
Het |
| Hgs |
T |
A |
11: 120,360,492 (GRCm39) |
Y63* |
probably null |
Het |
| Marchf6 |
A |
T |
15: 31,478,552 (GRCm39) |
N594K |
probably benign |
Het |
| Muc5ac |
C |
A |
7: 141,359,512 (GRCm39) |
T1323N |
possibly damaging |
Het |
| Mycn |
T |
C |
12: 12,989,893 (GRCm39) |
S168G |
probably benign |
Het |
| Pkd1 |
T |
A |
17: 24,812,478 (GRCm39) |
Y3804N |
probably damaging |
Het |
| Pramel16 |
T |
A |
4: 143,677,585 (GRCm39) |
|
probably benign |
Het |
| Prr14l |
A |
G |
5: 32,985,526 (GRCm39) |
I1323T |
possibly damaging |
Het |
| Pyroxd2 |
T |
C |
19: 42,719,781 (GRCm39) |
E475G |
probably benign |
Het |
| Ros1 |
T |
C |
10: 52,001,985 (GRCm39) |
K1046E |
probably damaging |
Het |
| Sema7a |
C |
T |
9: 57,867,631 (GRCm39) |
A461V |
probably benign |
Het |
| Slc30a2 |
T |
A |
4: 134,071,360 (GRCm39) |
I31N |
possibly damaging |
Het |
| Srebf1 |
C |
A |
11: 60,092,539 (GRCm39) |
|
probably null |
Het |
| Srms |
A |
T |
2: 180,849,501 (GRCm39) |
I301N |
probably damaging |
Het |
| Tmem130 |
A |
G |
5: 144,680,433 (GRCm39) |
Y324H |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,601,602 (GRCm39) |
T18654I |
probably benign |
Het |
| Vmn2r6 |
T |
A |
3: 64,463,917 (GRCm39) |
T306S |
probably damaging |
Het |
|
| Other mutations in Phf11d |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03213:Phf11d
|
APN |
14 |
59,586,797 (GRCm39) |
missense |
probably benign |
0.40 |
|
IGL03386:Phf11d
|
APN |
14 |
59,599,309 (GRCm39) |
splice site |
probably benign |
|
|
R0194:Phf11d
|
UTSW |
14 |
59,590,180 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0373:Phf11d
|
UTSW |
14 |
59,590,793 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R0845:Phf11d
|
UTSW |
14 |
59,590,793 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R1822:Phf11d
|
UTSW |
14 |
59,593,778 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4716:Phf11d
|
UTSW |
14 |
59,590,791 (GRCm39) |
missense |
probably benign |
0.13 |
|
R5122:Phf11d
|
UTSW |
14 |
59,590,793 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R5257:Phf11d
|
UTSW |
14 |
59,590,160 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5375:Phf11d
|
UTSW |
14 |
59,590,120 (GRCm39) |
missense |
probably null |
0.14 |
|
R5919:Phf11d
|
UTSW |
14 |
59,593,712 (GRCm39) |
intron |
probably benign |
|
|
R6008:Phf11d
|
UTSW |
14 |
59,602,898 (GRCm39) |
unclassified |
probably benign |
|
|
R6809:Phf11d
|
UTSW |
14 |
59,593,844 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7006:Phf11d
|
UTSW |
14 |
59,590,823 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7404:Phf11d
|
UTSW |
14 |
59,596,942 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7860:Phf11d
|
UTSW |
14 |
59,599,280 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7887:Phf11d
|
UTSW |
14 |
59,597,029 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8411:Phf11d
|
UTSW |
14 |
59,593,883 (GRCm39) |
missense |
probably benign |
0.07 |
|
R9138:Phf11d
|
UTSW |
14 |
59,602,833 (GRCm39) |
missense |
probably benign |
0.34 |
|
| Posted On |
2015-12-18 |
Incidental Mutation