Incidental Mutation 'PIT4494001:Plekha4'
| ID |
556153 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plekha4
|
| Ensembl Gene |
ENSMUSG00000040428 |
| Gene Name |
pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4 |
| Synonyms |
2410005C22Rik, PEPP1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.118)
|
| Stock # |
PIT4494001 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
45175754-45203653 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 45197503 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 522
(S522P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148001
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051810]
[ENSMUST00000209517]
[ENSMUST00000211155]
[ENSMUST00000211227]
[ENSMUST00000211797]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000051810
AA Change: S522P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000051468
Gene: ENSMUSG00000040428
AA Change: S522P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
27 |
N/A |
INTRINSIC |
|
PH
|
55 |
155 |
8.18e-19 |
SMART |
|
low complexity region
|
162 |
190 |
N/A |
INTRINSIC |
|
low complexity region
|
228 |
260 |
N/A |
INTRINSIC |
|
low complexity region
|
292 |
303 |
N/A |
INTRINSIC |
|
low complexity region
|
321 |
334 |
N/A |
INTRINSIC |
|
coiled coil region
|
376 |
419 |
N/A |
INTRINSIC |
|
low complexity region
|
519 |
535 |
N/A |
INTRINSIC |
|
low complexity region
|
608 |
628 |
N/A |
INTRINSIC |
|
low complexity region
|
649 |
659 |
N/A |
INTRINSIC |
|
low complexity region
|
706 |
719 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000209517
AA Change: S522P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210797
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000211155
AA Change: S494P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000211227
AA Change: S522P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211348
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000211797
AA Change: S451P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 93.8%
- 3x: 91.1%
- 10x: 85.6%
- 20x: 73.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933427I04Rik |
T |
C |
4: 123,754,698 (GRCm39) |
I204T |
probably benign |
Het |
| Acnat2 |
T |
C |
4: 49,383,133 (GRCm39) |
E140G |
probably benign |
Het |
| Arhgef10l |
T |
C |
4: 140,292,522 (GRCm39) |
E413G |
probably damaging |
Het |
| Atg9a |
A |
T |
1: 75,164,597 (GRCm39) |
C122* |
probably null |
Het |
| Birc6 |
T |
C |
17: 74,933,975 (GRCm39) |
Y2544H |
probably damaging |
Het |
| C3 |
G |
A |
17: 57,516,263 (GRCm39) |
T1383I |
probably benign |
Het |
| Cd2ap |
C |
T |
17: 43,163,258 (GRCm39) |
|
probably null |
Het |
| Cdhr1 |
T |
C |
14: 36,804,813 (GRCm39) |
T466A |
probably benign |
Het |
| Cdhr2 |
G |
T |
13: 54,866,255 (GRCm39) |
|
probably null |
Het |
| Eppk1 |
T |
A |
15: 75,990,272 (GRCm39) |
Q2203L |
probably benign |
Het |
| F10 |
T |
C |
8: 13,103,423 (GRCm39) |
L281P |
probably damaging |
Het |
| Farp2 |
A |
G |
1: 93,545,316 (GRCm39) |
T825A |
probably damaging |
Het |
| Fbxw27 |
T |
C |
9: 109,601,178 (GRCm39) |
E314G |
probably benign |
Het |
| Foxred1 |
T |
C |
9: 35,120,355 (GRCm39) |
E173G |
possibly damaging |
Het |
| Gm4847 |
T |
C |
1: 166,467,587 (GRCm39) |
E203G |
probably damaging |
Het |
| Gpat2 |
G |
A |
2: 127,275,800 (GRCm39) |
R526H |
probably benign |
Het |
| Grin2a |
T |
C |
16: 9,402,960 (GRCm39) |
Y842C |
probably damaging |
Het |
| Hyal4 |
T |
C |
6: 24,755,833 (GRCm39) |
V17A |
probably benign |
Het |
| Igkv4-68 |
T |
C |
6: 69,282,091 (GRCm39) |
T27A |
probably damaging |
Het |
| Loxhd1 |
A |
T |
18: 77,529,464 (GRCm39) |
N2036Y |
probably damaging |
Het |
| Lrp5 |
T |
C |
19: 3,660,091 (GRCm39) |
Y991C |
probably damaging |
Het |
| Lrp6 |
T |
C |
6: 134,456,741 (GRCm39) |
Y841C |
probably damaging |
Het |
| Medag |
A |
G |
5: 149,350,765 (GRCm39) |
Y194C |
probably damaging |
Het |
| Mynn |
C |
T |
3: 30,661,871 (GRCm39) |
R318* |
probably null |
Het |
| Notch1 |
C |
T |
2: 26,356,485 (GRCm39) |
V1711M |
probably damaging |
Het |
| Nsun2 |
T |
C |
13: 69,766,311 (GRCm39) |
|
probably null |
Het |
| Pex7 |
A |
G |
10: 19,770,469 (GRCm39) |
|
probably null |
Het |
| Pkd1 |
A |
G |
17: 24,796,775 (GRCm39) |
T2417A |
probably damaging |
Het |
| Pknox2 |
A |
G |
9: 36,865,987 (GRCm39) |
|
probably null |
Het |
| Ptcd1 |
A |
T |
5: 145,092,168 (GRCm39) |
S310R |
probably benign |
Het |
| Rap2a |
A |
G |
14: 120,716,319 (GRCm39) |
T61A |
possibly damaging |
Het |
| Ryr3 |
G |
T |
2: 112,672,221 (GRCm39) |
L1437M |
probably damaging |
Het |
| Slc25a40 |
T |
G |
5: 8,490,737 (GRCm39) |
I95S |
probably damaging |
Het |
| Srbd1 |
C |
T |
17: 86,449,787 (GRCm39) |
|
probably null |
Het |
| Tox4 |
C |
T |
14: 52,529,260 (GRCm39) |
T407I |
possibly damaging |
Het |
| Vmn1r8 |
A |
G |
6: 57,013,712 (GRCm39) |
I254M |
probably benign |
Het |
| Wiz |
G |
A |
17: 32,580,905 (GRCm39) |
A182V |
probably damaging |
Het |
| Zfp60 |
T |
C |
7: 27,448,126 (GRCm39) |
S265P |
probably damaging |
Het |
|
| Other mutations in Plekha4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01308:Plekha4
|
APN |
7 |
45,187,659 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01716:Plekha4
|
APN |
7 |
45,183,767 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02072:Plekha4
|
APN |
7 |
45,187,722 (GRCm39) |
missense |
probably benign |
0.29 |
|
IGL02815:Plekha4
|
APN |
7 |
45,187,836 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02939:Plekha4
|
APN |
7 |
45,181,787 (GRCm39) |
nonsense |
probably null |
|
|
R0085:Plekha4
|
UTSW |
7 |
45,193,373 (GRCm39) |
nonsense |
probably null |
|
|
R0239:Plekha4
|
UTSW |
7 |
45,181,782 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0239:Plekha4
|
UTSW |
7 |
45,181,782 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1036:Plekha4
|
UTSW |
7 |
45,199,400 (GRCm39) |
splice site |
probably benign |
|
|
R1955:Plekha4
|
UTSW |
7 |
45,203,330 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2049:Plekha4
|
UTSW |
7 |
45,203,222 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2187:Plekha4
|
UTSW |
7 |
45,198,698 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2888:Plekha4
|
UTSW |
7 |
45,187,668 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5086:Plekha4
|
UTSW |
7 |
45,203,082 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5357:Plekha4
|
UTSW |
7 |
45,184,195 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5604:Plekha4
|
UTSW |
7 |
45,198,580 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5611:Plekha4
|
UTSW |
7 |
45,203,065 (GRCm39) |
missense |
probably benign |
|
|
R6255:Plekha4
|
UTSW |
7 |
45,203,226 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R6341:Plekha4
|
UTSW |
7 |
45,190,572 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6502:Plekha4
|
UTSW |
7 |
45,180,000 (GRCm39) |
start codon destroyed |
probably null |
0.87 |
|
R6720:Plekha4
|
UTSW |
7 |
45,190,310 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R6776:Plekha4
|
UTSW |
7 |
45,184,241 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8057:Plekha4
|
UTSW |
7 |
45,198,695 (GRCm39) |
missense |
probably benign |
|
|
R9095:Plekha4
|
UTSW |
7 |
45,190,492 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTCTCACCTTGACCGAATC -3'
(R):5'- AACCCAGCCTGGCATCATTG -3'
Sequencing Primer
(F):5'- GAATCCCTTTCCTTCACCCCAGG -3'
(R):5'- TTGTTCTTGCACAGGACCCAGG -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation