Incidental Mutation 'R1026:Plekhf1'
| ID |
94965 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plekhf1
|
| Ensembl Gene |
ENSMUSG00000074170 |
| Gene Name |
pleckstrin homology domain containing, family F (with FYVE domain) member 1 |
| Synonyms |
LAPF, 1810013P09Rik |
| MMRRC Submission |
039128-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1026 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
37920078-37927418 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 37921065 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Serine
at position 168
(A168S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096113
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098513]
|
| AlphaFold |
Q3TB82 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000098513
AA Change: A168S
PolyPhen 2
Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000096113
Gene: ENSMUSG00000074170
AA Change: A168S
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
36 |
133 |
9.05e-12 |
SMART |
|
FYVE
|
144 |
213 |
1.52e-24 |
SMART |
|
low complexity region
|
240 |
260 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.7%
- 10x: 94.5%
- 20x: 87.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 15 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alyref |
C |
G |
11: 120,486,758 (GRCm39) |
V168L |
probably damaging |
Het |
| Cdc42bpg |
T |
C |
19: 6,367,217 (GRCm39) |
C919R |
probably damaging |
Het |
| Cgnl1 |
A |
G |
9: 71,624,713 (GRCm39) |
S620P |
possibly damaging |
Het |
| Fbxw10 |
A |
G |
11: 62,765,997 (GRCm39) |
T756A |
probably benign |
Het |
| Fsip2 |
T |
C |
2: 82,818,805 (GRCm39) |
I4846T |
possibly damaging |
Het |
| Hebp2 |
G |
T |
10: 18,420,163 (GRCm39) |
T90K |
possibly damaging |
Het |
| Map4k5 |
T |
C |
12: 69,921,062 (GRCm39) |
K52R |
possibly damaging |
Het |
| Neb |
T |
A |
2: 52,154,122 (GRCm39) |
M2330L |
possibly damaging |
Het |
| Or14a258 |
T |
A |
7: 86,035,467 (GRCm39) |
M134L |
probably damaging |
Het |
| Or8k21 |
T |
C |
2: 86,145,558 (GRCm39) |
Q24R |
possibly damaging |
Het |
| Ppp1r12a |
A |
G |
10: 108,087,720 (GRCm39) |
T58A |
probably benign |
Het |
| Prss23 |
T |
A |
7: 89,159,166 (GRCm39) |
Y301F |
probably benign |
Het |
| R3hdm1 |
A |
G |
1: 128,124,742 (GRCm39) |
Y343C |
probably damaging |
Het |
| Zcchc17 |
C |
T |
4: 130,223,403 (GRCm39) |
V128I |
possibly damaging |
Het |
| Zfp960 |
T |
A |
17: 17,308,518 (GRCm39) |
C411S |
probably damaging |
Het |
|
| Other mutations in Plekhf1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01373:Plekhf1
|
APN |
7 |
37,921,221 (GRCm39) |
missense |
probably benign |
|
|
IGL01997:Plekhf1
|
APN |
7 |
37,920,752 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL03237:Plekhf1
|
APN |
7 |
37,920,799 (GRCm39) |
missense |
probably benign |
|
|
R0671:Plekhf1
|
UTSW |
7 |
37,920,826 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3085:Plekhf1
|
UTSW |
7 |
37,921,001 (GRCm39) |
missense |
probably benign |
|
|
R4764:Plekhf1
|
UTSW |
7 |
37,921,022 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5907:Plekhf1
|
UTSW |
7 |
37,921,594 (GRCm39) |
splice site |
probably null |
|
|
R6291:Plekhf1
|
UTSW |
7 |
37,921,029 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R6785:Plekhf1
|
UTSW |
7 |
37,921,488 (GRCm39) |
nonsense |
probably null |
|
|
R7356:Plekhf1
|
UTSW |
7 |
37,921,545 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R7601:Plekhf1
|
UTSW |
7 |
37,921,304 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8544:Plekhf1
|
UTSW |
7 |
37,920,768 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8716:Plekhf1
|
UTSW |
7 |
37,921,322 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8851:Plekhf1
|
UTSW |
7 |
37,921,466 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8925:Plekhf1
|
UTSW |
7 |
37,920,998 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8927:Plekhf1
|
UTSW |
7 |
37,920,998 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9377:Plekhf1
|
UTSW |
7 |
37,921,203 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTCCTCATCGGAGTCATCGTCATC -3'
(R):5'- GCCAGGAATGGATAAGCCACATCG -3'
Sequencing Primer
(F):5'- GAGTCATCGTCATCGCCAC -3'
(R):5'- CATCGAAGAGTGTGTGCGG -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation