Incidental Mutation 'R5695:Plekhb1'
| ID |
443879 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plekhb1
|
| Ensembl Gene |
ENSMUSG00000030701 |
| Gene Name |
pleckstrin homology domain containing, family B (evectins) member 1 |
| Synonyms |
PHR1, evt-1, Phret1 |
| MMRRC Submission |
043326-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5695 (G1)
|
| Quality Score |
191 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
100292099-100311621 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 100304602 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 34
(I34N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115559
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079176]
[ENSMUST00000107043]
[ENSMUST00000107044]
[ENSMUST00000107045]
[ENSMUST00000107046]
[ENSMUST00000107047]
[ENSMUST00000116287]
[ENSMUST00000138830]
[ENSMUST00000139708]
[ENSMUST00000151123]
[ENSMUST00000208812]
|
| AlphaFold |
Q9QYE9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000079176
AA Change: I34N
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000078175
Gene: ENSMUSG00000030701
AA Change: I34N
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
22 |
130 |
1.25e-5 |
SMART |
|
low complexity region
|
216 |
237 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107043
AA Change: I15N
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000102658
Gene: ENSMUSG00000030701
AA Change: I15N
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2D9V|A
|
2 |
103 |
1e-68 |
PDB |
|
SCOP:d1dbha2
|
3 |
97 |
7e-12 |
SMART |
|
Blast:PH
|
3 |
103 |
9e-67 |
BLAST |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000107044
AA Change: I15N
PolyPhen 2
Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000102659
Gene: ENSMUSG00000030701
AA Change: I15N
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
3 |
111 |
1.25e-5 |
SMART |
|
low complexity region
|
162 |
183 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107045
AA Change: I15N
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000102660
Gene: ENSMUSG00000030701
AA Change: I15N
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
3 |
111 |
1.25e-5 |
SMART |
|
low complexity region
|
197 |
218 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000107046
AA Change: I15N
PolyPhen 2
Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000102661
Gene: ENSMUSG00000030701
AA Change: I15N
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
3 |
111 |
1.25e-5 |
SMART |
|
low complexity region
|
162 |
183 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107047
AA Change: I34N
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000102662
Gene: ENSMUSG00000030701
AA Change: I34N
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
22 |
130 |
1.25e-5 |
SMART |
|
low complexity region
|
181 |
202 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000116287
AA Change: I15N
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000111991
Gene: ENSMUSG00000030701
AA Change: I15N
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
3 |
111 |
1.25e-5 |
SMART |
|
low complexity region
|
197 |
218 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000138830
AA Change: I15N
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000116888
Gene: ENSMUSG00000030701
AA Change: I15N
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
3 |
111 |
1.25e-5 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000139708
AA Change: I15N
PolyPhen 2
Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000122333
Gene: ENSMUSG00000030701
AA Change: I15N
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
3 |
111 |
1.25e-5 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000151123
AA Change: I34N
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000115559
Gene: ENSMUSG00000030701
AA Change: I34N
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
22 |
130 |
1.25e-5 |
SMART |
|
low complexity region
|
216 |
237 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000208812
AA Change: I34N
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135255
|
| Meta Mutation Damage Score |
0.9300 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.2%
|
| Validation Efficiency |
98% (58/59) |
| MGI Phenotype |
PHENOTYPE: Homozygous null mice are viable with no abnormalities detected in growth, behavior including balance, inner ear histology, or serum and urine electrolyte concentrations. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcd4 |
T |
A |
12: 84,660,745 (GRCm39) |
H116L |
probably damaging |
Het |
| Anapc4 |
C |
T |
5: 53,019,581 (GRCm39) |
S581L |
probably benign |
Het |
| Ano8 |
A |
C |
8: 71,935,887 (GRCm39) |
D276E |
probably damaging |
Het |
| Aspm |
G |
A |
1: 139,407,407 (GRCm39) |
R2098H |
probably benign |
Het |
| Bend7 |
G |
A |
2: 4,768,052 (GRCm39) |
R336Q |
probably damaging |
Het |
| Bpifb4 |
G |
A |
2: 153,784,843 (GRCm39) |
G184S |
probably damaging |
Het |
| Cbx8 |
T |
C |
11: 118,930,137 (GRCm39) |
D152G |
probably benign |
Het |
| Cdca2 |
A |
G |
14: 67,943,078 (GRCm39) |
|
probably null |
Het |
| Cgn |
G |
A |
3: 94,680,945 (GRCm39) |
A531V |
probably benign |
Het |
| Cmya5 |
C |
A |
13: 93,182,374 (GRCm39) |
|
probably null |
Het |
| Cntnap3 |
A |
G |
13: 64,935,769 (GRCm39) |
S365P |
probably damaging |
Het |
| Crnn |
A |
G |
3: 93,056,330 (GRCm39) |
Q372R |
probably damaging |
Het |
| Ehf |
T |
A |
2: 103,097,124 (GRCm39) |
E276V |
probably damaging |
Het |
| Eif4g3 |
T |
A |
4: 137,890,744 (GRCm39) |
|
probably null |
Het |
| Enpep |
C |
T |
3: 129,102,748 (GRCm39) |
D403N |
probably damaging |
Het |
| Enpp1 |
T |
C |
10: 24,530,806 (GRCm39) |
E550G |
probably damaging |
Het |
| Entpd8 |
A |
G |
2: 24,974,346 (GRCm39) |
D377G |
probably benign |
Het |
| Epc2 |
T |
A |
2: 49,437,619 (GRCm39) |
|
probably null |
Het |
| Erich3 |
G |
T |
3: 154,439,210 (GRCm39) |
G481V |
probably damaging |
Het |
| Fank1 |
A |
G |
7: 133,471,075 (GRCm39) |
Y156C |
probably damaging |
Het |
| Fras1 |
A |
G |
5: 96,929,203 (GRCm39) |
D3869G |
probably damaging |
Het |
| Gcnt2 |
A |
G |
13: 41,071,675 (GRCm39) |
D106G |
probably benign |
Het |
| Gm20830 |
A |
T |
Y: 6,916,501 (GRCm39) |
V206E |
probably benign |
Het |
| Gmpr2 |
T |
C |
14: 55,914,691 (GRCm39) |
V228A |
possibly damaging |
Het |
| Gon4l |
TGAGCA |
TGAGCAGAGCA |
3: 88,803,523 (GRCm39) |
|
probably null |
Het |
| Gtpbp1 |
G |
A |
15: 79,596,375 (GRCm39) |
|
probably null |
Het |
| Hhat |
A |
T |
1: 192,399,327 (GRCm39) |
M271K |
probably damaging |
Het |
| Hipk2 |
A |
T |
6: 38,795,810 (GRCm39) |
M153K |
possibly damaging |
Het |
| Hydin |
A |
T |
8: 111,261,915 (GRCm39) |
H2672L |
probably benign |
Het |
| Igfbpl1 |
A |
T |
4: 45,826,374 (GRCm39) |
D140E |
probably damaging |
Het |
| Kctd1 |
T |
G |
18: 15,196,573 (GRCm39) |
|
probably benign |
Het |
| Lax1 |
A |
T |
1: 133,608,316 (GRCm39) |
Y142N |
probably damaging |
Het |
| Lpin2 |
C |
T |
17: 71,551,798 (GRCm39) |
R733C |
probably damaging |
Het |
| Morn4 |
A |
G |
19: 42,064,556 (GRCm39) |
L144P |
possibly damaging |
Het |
| Nup214 |
C |
A |
2: 31,924,385 (GRCm39) |
T1638K |
probably damaging |
Het |
| Nyap1 |
C |
T |
5: 137,733,246 (GRCm39) |
A596T |
probably damaging |
Het |
| Oas1d |
T |
C |
5: 121,053,074 (GRCm39) |
M43T |
probably benign |
Het |
| Or4l15 |
T |
C |
14: 50,198,080 (GRCm39) |
T150A |
probably benign |
Het |
| Or6x1 |
T |
C |
9: 40,098,897 (GRCm39) |
V162A |
probably benign |
Het |
| Or8b42 |
A |
G |
9: 38,342,472 (GRCm39) |
H298R |
probably benign |
Het |
| Pacs1 |
A |
G |
19: 5,186,819 (GRCm39) |
F851S |
probably damaging |
Het |
| Pcdh17 |
A |
G |
14: 84,683,800 (GRCm39) |
Q89R |
probably damaging |
Het |
| Phrf1 |
A |
G |
7: 140,838,378 (GRCm39) |
|
probably benign |
Het |
| Ralgapa2 |
T |
C |
2: 146,175,397 (GRCm39) |
E1800G |
probably damaging |
Het |
| Rbm33 |
A |
T |
5: 28,544,010 (GRCm39) |
I89F |
probably damaging |
Het |
| Rtl1 |
T |
A |
12: 109,560,531 (GRCm39) |
E436V |
probably damaging |
Het |
| Slc2a4 |
G |
T |
11: 69,837,217 (GRCm39) |
P73Q |
probably damaging |
Het |
| Sorbs2 |
A |
T |
8: 46,245,912 (GRCm39) |
T311S |
probably benign |
Het |
| Sulf2 |
G |
A |
2: 165,974,678 (GRCm39) |
A2V |
probably benign |
Het |
| Supt16 |
A |
T |
14: 52,411,601 (GRCm39) |
|
probably null |
Het |
| Vmn1r26 |
A |
T |
6: 57,985,738 (GRCm39) |
N150K |
probably damaging |
Het |
| Vmn2r39 |
T |
A |
7: 9,028,150 (GRCm39) |
H407L |
possibly damaging |
Het |
| Vmn2r84 |
T |
A |
10: 130,225,064 (GRCm39) |
Y482F |
probably benign |
Het |
| Vps9d1 |
T |
C |
8: 123,973,655 (GRCm39) |
E376G |
probably benign |
Het |
| Wrn |
C |
A |
8: 33,814,346 (GRCm39) |
G366V |
probably benign |
Het |
|
| Other mutations in Plekhb1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02047:Plekhb1
|
APN |
7 |
100,304,506 (GRCm39) |
missense |
probably damaging |
1.00 |
|
F5770:Plekhb1
|
UTSW |
7 |
100,303,825 (GRCm39) |
missense |
probably benign |
0.35 |
|
R0722:Plekhb1
|
UTSW |
7 |
100,294,810 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1891:Plekhb1
|
UTSW |
7 |
100,304,599 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3427:Plekhb1
|
UTSW |
7 |
100,294,857 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5506:Plekhb1
|
UTSW |
7 |
100,294,150 (GRCm39) |
splice site |
probably null |
|
|
R5696:Plekhb1
|
UTSW |
7 |
100,305,960 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5789:Plekhb1
|
UTSW |
7 |
100,294,793 (GRCm39) |
nonsense |
probably null |
|
|
R6633:Plekhb1
|
UTSW |
7 |
100,294,846 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7304:Plekhb1
|
UTSW |
7 |
100,294,874 (GRCm39) |
missense |
probably benign |
0.19 |
|
R7763:Plekhb1
|
UTSW |
7 |
100,294,870 (GRCm39) |
missense |
probably benign |
|
|
R8271:Plekhb1
|
UTSW |
7 |
100,305,936 (GRCm39) |
splice site |
probably benign |
|
|
R9622:Plekhb1
|
UTSW |
7 |
100,304,588 (GRCm39) |
missense |
probably damaging |
1.00 |
|
V7580:Plekhb1
|
UTSW |
7 |
100,303,825 (GRCm39) |
missense |
probably benign |
0.35 |
|
V7582:Plekhb1
|
UTSW |
7 |
100,303,825 (GRCm39) |
missense |
probably benign |
0.35 |
|
V7583:Plekhb1
|
UTSW |
7 |
100,303,825 (GRCm39) |
missense |
probably benign |
0.35 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTCTGGAAGCACCCAAGAG -3'
(R):5'- TTGTCTTGGAAGCTCCCATAAG -3'
Sequencing Primer
(F):5'- TGACTACGGGCAGAGTTCCAC -3'
(R):5'- AGCCACTAATGTGTGTCAGGC -3'
|
| Posted On |
2016-11-09 |
Incidental Mutation