Incidental Mutation 'IGL03386:Phf11d'
| ID |
420882 |
| 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 # |
IGL03386
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
59584856-59602919 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 59599309 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125181
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095157]
[ENSMUST00000160425]
[ENSMUST00000161031]
|
| AlphaFold |
A6H5X4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000095157
|
| SMART Domains |
Protein: ENSMUSP00000092779
Gene: ENSMUSG00000068245
| Domain | Start | End | E-Value | Type |
|---|
|
PHD
|
92 |
143 |
3.03e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160425
|
| SMART Domains |
Protein: ENSMUSP00000124578
Gene: ENSMUSG00000068245
| Domain | Start | End | E-Value | Type |
|---|
|
PHD
|
92 |
143 |
3.03e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161031
|
| SMART Domains |
Protein: ENSMUSP00000125181
Gene: ENSMUSG00000068245
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arid2 |
T |
C |
15: 96,259,455 (GRCm39) |
F236L |
probably damaging |
Het |
| AU018091 |
T |
C |
7: 3,211,107 (GRCm39) |
Y274C |
probably damaging |
Het |
| BC024139 |
A |
G |
15: 76,005,945 (GRCm39) |
F419L |
probably benign |
Het |
| Cd300ld |
T |
G |
11: 114,874,998 (GRCm39) |
D212A |
probably benign |
Het |
| Ces1g |
T |
C |
8: 94,052,440 (GRCm39) |
H283R |
probably benign |
Het |
| Chac2 |
T |
A |
11: 30,927,720 (GRCm39) |
K66N |
probably benign |
Het |
| Emc1 |
T |
C |
4: 139,091,092 (GRCm39) |
|
probably null |
Het |
| Eml6 |
G |
A |
11: 29,699,934 (GRCm39) |
A1734V |
probably benign |
Het |
| Erich3 |
G |
A |
3: 154,444,876 (GRCm39) |
E548K |
possibly damaging |
Het |
| Gm3604 |
T |
A |
13: 62,517,981 (GRCm39) |
E105D |
possibly damaging |
Het |
| Gpr158 |
A |
G |
2: 21,831,057 (GRCm39) |
K719R |
probably damaging |
Het |
| Heatr6 |
T |
C |
11: 83,650,203 (GRCm39) |
S220P |
probably damaging |
Het |
| Kcnip4 |
T |
C |
5: 48,639,889 (GRCm39) |
Y74C |
probably damaging |
Het |
| Kmt2b |
T |
C |
7: 30,273,396 (GRCm39) |
H2380R |
possibly damaging |
Het |
| Lars2 |
A |
T |
9: 123,282,455 (GRCm39) |
K680* |
probably null |
Het |
| Macc1 |
T |
A |
12: 119,409,598 (GRCm39) |
M122K |
probably benign |
Het |
| Pbrm1 |
A |
G |
14: 30,772,049 (GRCm39) |
D381G |
probably damaging |
Het |
| Qrsl1 |
A |
G |
10: 43,752,546 (GRCm39) |
Y426H |
possibly damaging |
Het |
| Riok1 |
T |
A |
13: 38,241,213 (GRCm39) |
L456* |
probably null |
Het |
| Rps6kc1 |
A |
G |
1: 190,531,767 (GRCm39) |
L745P |
probably damaging |
Het |
| Sh3tc2 |
A |
T |
18: 62,106,382 (GRCm39) |
H137L |
probably benign |
Het |
| Shoc1 |
T |
C |
4: 59,069,315 (GRCm39) |
K704E |
possibly damaging |
Het |
| Shroom3 |
T |
A |
5: 93,096,342 (GRCm39) |
|
probably benign |
Het |
| Stac2 |
T |
A |
11: 97,931,966 (GRCm39) |
Q103L |
possibly damaging |
Het |
| Thnsl1 |
G |
A |
2: 21,216,359 (GRCm39) |
A38T |
probably benign |
Het |
| Traf3ip2 |
A |
G |
10: 39,521,704 (GRCm39) |
I421V |
probably benign |
Het |
| Vmn2r14 |
T |
C |
5: 109,368,350 (GRCm39) |
D214G |
possibly damaging |
Het |
|
| Other mutations in Phf11d |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02808:Phf11d
|
APN |
14 |
59,586,739 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03213:Phf11d
|
APN |
14 |
59,586,797 (GRCm39) |
missense |
probably benign |
0.40 |
|
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 |
2016-08-02 |
Incidental Mutation