Incidental Mutation 'IGL01607:Phf11a'
| ID |
92295 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Phf11a
|
| Ensembl Gene |
ENSMUSG00000044703 |
| Gene Name |
PHD finger protein 11A |
| Synonyms |
4933417L10Rik, Phf11 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.055)
|
| Stock # |
IGL01607
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
59514362-59534971 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 59524950 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 85
(I85V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000053146
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062307]
|
| AlphaFold |
Q8BVM9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000062307
AA Change: I85V
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000053146
Gene: ENSMUSG00000044703
AA Change: I85V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-HC5HC2H_2
|
26 |
142 |
7.3e-9 |
PFAM |
|
Pfam:zf-HC5HC2H
|
51 |
143 |
5.8e-21 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsl6 |
A |
G |
11: 54,243,823 (GRCm39) |
K556E |
possibly damaging |
Het |
| Adgre4 |
A |
C |
17: 56,101,748 (GRCm39) |
|
probably benign |
Het |
| Ajap1 |
C |
T |
4: 153,516,736 (GRCm39) |
G202S |
probably damaging |
Het |
| Catsperb |
G |
T |
12: 101,446,985 (GRCm39) |
|
probably benign |
Het |
| Ccdc178 |
T |
A |
18: 22,200,778 (GRCm39) |
D393V |
probably benign |
Het |
| Cfap74 |
A |
G |
4: 155,503,443 (GRCm39) |
T95A |
possibly damaging |
Het |
| Dis3l2 |
A |
G |
1: 86,673,209 (GRCm39) |
T67A |
probably benign |
Het |
| Dnaja3 |
T |
C |
16: 4,511,259 (GRCm39) |
F205L |
probably damaging |
Het |
| Dsc1 |
C |
T |
18: 20,222,720 (GRCm39) |
C584Y |
probably damaging |
Het |
| Duox2 |
C |
A |
2: 122,122,800 (GRCm39) |
V545L |
probably benign |
Het |
| Etaa1 |
A |
G |
11: 17,903,637 (GRCm39) |
L53P |
probably benign |
Het |
| Gm14184 |
C |
T |
11: 99,590,490 (GRCm39) |
C4Y |
unknown |
Het |
| Inpp4b |
C |
T |
8: 82,737,292 (GRCm39) |
A563V |
probably benign |
Het |
| Kcnc3 |
A |
G |
7: 44,240,728 (GRCm39) |
D140G |
probably damaging |
Het |
| Ly6a |
A |
T |
15: 74,867,262 (GRCm39) |
M85K |
probably benign |
Het |
| Map4k2 |
C |
T |
19: 6,395,623 (GRCm39) |
|
probably null |
Het |
| Mttp |
T |
C |
3: 137,810,459 (GRCm39) |
Y652C |
probably damaging |
Het |
| Neu1 |
A |
T |
17: 35,153,692 (GRCm39) |
N372I |
probably benign |
Het |
| Nuak2 |
G |
A |
1: 132,255,878 (GRCm39) |
V184I |
probably damaging |
Het |
| Polr2e |
C |
A |
10: 79,875,467 (GRCm39) |
D3Y |
probably damaging |
Het |
| Ralb |
A |
G |
1: 119,411,279 (GRCm39) |
V20A |
probably damaging |
Het |
| Rln1 |
A |
T |
19: 29,309,260 (GRCm39) |
V173D |
probably benign |
Het |
| Stk38l |
T |
A |
6: 146,673,152 (GRCm39) |
C304S |
probably damaging |
Het |
| Stk38l |
T |
C |
6: 146,673,725 (GRCm39) |
|
probably benign |
Het |
| Tjp1 |
G |
T |
7: 64,985,926 (GRCm39) |
D288E |
possibly damaging |
Het |
| Trpm3 |
A |
G |
19: 22,964,491 (GRCm39) |
I1319V |
probably benign |
Het |
| Zic2 |
T |
G |
14: 122,716,294 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Phf11a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01988:Phf11a
|
APN |
14 |
59,514,807 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02614:Phf11a
|
APN |
14 |
59,516,817 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R1118:Phf11a
|
UTSW |
14 |
59,521,778 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1623:Phf11a
|
UTSW |
14 |
59,525,000 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1661:Phf11a
|
UTSW |
14 |
59,518,237 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1928:Phf11a
|
UTSW |
14 |
59,519,316 (GRCm39) |
splice site |
probably benign |
|
|
R2022:Phf11a
|
UTSW |
14 |
59,532,363 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R4836:Phf11a
|
UTSW |
14 |
59,525,028 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4983:Phf11a
|
UTSW |
14 |
59,521,887 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5074:Phf11a
|
UTSW |
14 |
59,521,849 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5411:Phf11a
|
UTSW |
14 |
59,532,387 (GRCm39) |
missense |
probably benign |
|
|
R5510:Phf11a
|
UTSW |
14 |
59,516,834 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5512:Phf11a
|
UTSW |
14 |
59,524,999 (GRCm39) |
missense |
probably benign |
0.12 |
|
R6209:Phf11a
|
UTSW |
14 |
59,525,028 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6337:Phf11a
|
UTSW |
14 |
59,521,817 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6505:Phf11a
|
UTSW |
14 |
59,514,986 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7368:Phf11a
|
UTSW |
14 |
59,518,174 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8133:Phf11a
|
UTSW |
14 |
59,521,773 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8136:Phf11a
|
UTSW |
14 |
59,515,018 (GRCm39) |
missense |
probably benign |
|
|
R9797:Phf11a
|
UTSW |
14 |
59,514,862 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
Z1177:Phf11a
|
UTSW |
14 |
59,521,791 (GRCm39) |
missense |
probably benign |
0.30 |
|
| Posted On |
2013-12-09 |
Incidental Mutation