Incidental Mutation 'R0965:Phf11c'
| ID |
81618 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Phf11c
|
| Ensembl Gene |
ENSMUSG00000091144 |
| Gene Name |
PHD finger protein 11C |
| Synonyms |
Gm6907 |
| MMRRC Submission |
039094-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0965 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
59618282-59630961 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 59618931 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 285
(I285F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131536
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000166912]
|
| AlphaFold |
B4XVP9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000166912
AA Change: I285F
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000131536
Gene: ENSMUSG00000091144
AA Change: I285F
| Domain | Start | End | E-Value | Type |
|---|
|
PHD
|
112 |
162 |
3.25e-4 |
SMART |
|
low complexity region
|
178 |
186 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.1%
- 20x: 94.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb2 |
AGAGGAGGAGGAGGAGGAGG |
AGAGGAGGAGGAGGAGG |
4: 129,886,209 (GRCm39) |
|
probably benign |
Het |
| Amacr |
C |
T |
15: 10,984,891 (GRCm39) |
R170C |
probably damaging |
Het |
| Bcl2 |
A |
T |
1: 106,640,021 (GRCm39) |
L197Q |
probably benign |
Het |
| Brd1 |
G |
A |
15: 88,601,231 (GRCm39) |
R468W |
probably damaging |
Het |
| Esco1 |
A |
G |
18: 10,567,570 (GRCm39) |
F821L |
probably damaging |
Het |
| Gtf3c3 |
C |
T |
1: 54,456,937 (GRCm39) |
A488T |
probably damaging |
Het |
| Gzma |
G |
A |
13: 113,234,868 (GRCm39) |
P38L |
probably damaging |
Het |
| Mcc |
A |
G |
18: 44,857,593 (GRCm39) |
L174P |
probably benign |
Het |
| Med19 |
A |
G |
2: 84,508,793 (GRCm39) |
E2G |
probably damaging |
Het |
| Muc5b |
C |
T |
7: 141,417,539 (GRCm39) |
T3495I |
possibly damaging |
Het |
| Nfatc4 |
T |
C |
14: 56,064,043 (GRCm39) |
S107P |
probably damaging |
Het |
| Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
| Or9g4b |
A |
G |
2: 85,616,643 (GRCm39) |
S263G |
probably damaging |
Het |
| Prkdc |
T |
C |
16: 15,647,580 (GRCm39) |
V3668A |
probably benign |
Het |
| Rbm20 |
T |
C |
19: 53,847,832 (GRCm39) |
F1126S |
probably damaging |
Het |
| Slc7a5 |
T |
C |
8: 122,633,840 (GRCm39) |
E169G |
probably benign |
Het |
| Slco1b2 |
C |
A |
6: 141,631,322 (GRCm39) |
T652K |
probably damaging |
Het |
| Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
| Tmem119 |
A |
C |
5: 113,933,480 (GRCm39) |
V107G |
probably damaging |
Het |
| Ttn |
C |
A |
2: 76,629,915 (GRCm39) |
G14205V |
probably damaging |
Het |
| Zc3h11a |
T |
C |
1: 133,573,541 (GRCm39) |
N33S |
possibly damaging |
Het |
|
| Other mutations in Phf11c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01073:Phf11c
|
APN |
14 |
59,626,797 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL01080:Phf11c
|
APN |
14 |
59,630,648 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01819:Phf11c
|
APN |
14 |
59,630,586 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02691:Phf11c
|
APN |
14 |
59,622,236 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0029:Phf11c
|
UTSW |
14 |
59,622,364 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3001:Phf11c
|
UTSW |
14 |
59,622,289 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3002:Phf11c
|
UTSW |
14 |
59,622,289 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3081:Phf11c
|
UTSW |
14 |
59,618,933 (GRCm39) |
missense |
probably benign |
|
|
R4230:Phf11c
|
UTSW |
14 |
59,630,516 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4432:Phf11c
|
UTSW |
14 |
59,628,384 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R5649:Phf11c
|
UTSW |
14 |
59,622,981 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R8981:Phf11c
|
UTSW |
14 |
59,628,412 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACAGTCTGTCTCCTGAGTCTGCTTG -3'
(R):5'- CAATGTCCTTGGAGCCAGAGATGTG -3'
Sequencing Primer
(F):5'- TGCTTGCACTTCAGGAGAC -3'
(R):5'- TCTTGTCCTACAGTGAAGGAGAAC -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation