Incidental Mutation 'R5789:Plekhb1'
| ID |
448209 |
| 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 |
043383-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5789 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
100292099-100311621 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 100294793 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 193
(Y193*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115559
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032946]
[ENSMUST00000079176]
[ENSMUST00000098252]
[ENSMUST00000107043]
[ENSMUST00000107044]
[ENSMUST00000107045]
[ENSMUST00000107046]
[ENSMUST00000139708]
[ENSMUST00000107047]
[ENSMUST00000116287]
[ENSMUST00000151123]
[ENSMUST00000107048]
[ENSMUST00000138830]
|
| AlphaFold |
Q9QYE9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032946
|
| SMART Domains |
Protein: ENSMUSP00000032946
Gene: ENSMUSG00000030704
| Domain | Start | End | E-Value | Type |
|---|
|
RAB
|
14 |
177 |
6.24e-89 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000079176
AA Change: Y193*
|
| SMART Domains |
Protein: ENSMUSP00000078175
Gene: ENSMUSG00000030701
AA Change: Y193*
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
22 |
130 |
1.25e-5 |
SMART |
|
low complexity region
|
216 |
237 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000098252
|
| SMART Domains |
Protein: ENSMUSP00000095852
Gene: ENSMUSG00000030704
| Domain | Start | End | E-Value | Type |
|---|
|
RAB
|
14 |
177 |
5.52e-90 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107043
AA Change: M126K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000102658
Gene: ENSMUSG00000030701
AA Change: M126K
| 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 |
probably null
Transcript: ENSMUST00000107044
AA Change: Y139*
|
| SMART Domains |
Protein: ENSMUSP00000102659
Gene: ENSMUSG00000030701
AA Change: Y139*
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
3 |
111 |
1.25e-5 |
SMART |
|
low complexity region
|
162 |
183 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000107045
AA Change: Y174*
|
| SMART Domains |
Protein: ENSMUSP00000102660
Gene: ENSMUSG00000030701
AA Change: Y174*
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
3 |
111 |
1.25e-5 |
SMART |
|
low complexity region
|
197 |
218 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000107046
AA Change: Y139*
|
| SMART Domains |
Protein: ENSMUSP00000102661
Gene: ENSMUSG00000030701
AA Change: Y139*
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
3 |
111 |
1.25e-5 |
SMART |
|
low complexity region
|
162 |
183 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000139708
AA Change: Y139*
|
| SMART Domains |
Protein: ENSMUSP00000122333
Gene: ENSMUSG00000030701
AA Change: Y139*
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
3 |
111 |
1.25e-5 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000107047
AA Change: Y158*
|
| SMART Domains |
Protein: ENSMUSP00000102662
Gene: ENSMUSG00000030701
AA Change: Y158*
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
22 |
130 |
1.25e-5 |
SMART |
|
low complexity region
|
181 |
202 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000116287
AA Change: Y174*
|
| SMART Domains |
Protein: ENSMUSP00000111991
Gene: ENSMUSG00000030701
AA Change: Y174*
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
3 |
111 |
1.25e-5 |
SMART |
|
low complexity region
|
197 |
218 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135255
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000151123
AA Change: Y193*
|
| SMART Domains |
Protein: ENSMUSP00000115559
Gene: ENSMUSG00000030701
AA Change: Y193*
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
22 |
130 |
1.25e-5 |
SMART |
|
low complexity region
|
216 |
237 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107048
|
| SMART Domains |
Protein: ENSMUSP00000102663
Gene: ENSMUSG00000030704
| Domain | Start | End | E-Value | Type |
|---|
|
RAB
|
1 |
144 |
2.57e-67 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138830
|
| SMART Domains |
Protein: ENSMUSP00000116888
Gene: ENSMUSG00000030701
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
3 |
111 |
1.25e-5 |
SMART |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.0%
|
| Validation Efficiency |
97% (61/63) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
A |
G |
2: 69,076,108 (GRCm39) |
F1200S |
probably damaging |
Het |
| Ahnak |
A |
T |
19: 8,979,685 (GRCm39) |
D323V |
probably benign |
Het |
| Aloxe3 |
T |
C |
11: 69,017,265 (GRCm39) |
Y13H |
probably damaging |
Het |
| Aqp1 |
A |
G |
6: 55,313,746 (GRCm39) |
I91V |
probably benign |
Het |
| C9orf72 |
T |
A |
4: 35,226,112 (GRCm39) |
|
probably benign |
Het |
| Carmil1 |
A |
G |
13: 24,305,831 (GRCm39) |
S318P |
probably damaging |
Het |
| Cdan1 |
A |
G |
2: 120,560,016 (GRCm39) |
F383L |
probably benign |
Het |
| Ciao3 |
T |
C |
17: 26,000,177 (GRCm39) |
C303R |
probably benign |
Het |
| Col6a2 |
T |
A |
10: 76,440,223 (GRCm39) |
E606V |
probably damaging |
Het |
| Col6a5 |
T |
C |
9: 105,741,807 (GRCm39) |
T2371A |
possibly damaging |
Het |
| Cops3 |
T |
C |
11: 59,721,106 (GRCm39) |
|
probably benign |
Het |
| Coq7 |
G |
T |
7: 118,128,929 (GRCm39) |
H35Q |
possibly damaging |
Het |
| Cp |
T |
A |
3: 20,011,454 (GRCm39) |
F3I |
probably benign |
Het |
| D630003M21Rik |
C |
T |
2: 158,058,734 (GRCm39) |
E389K |
possibly damaging |
Het |
| Dclre1c |
A |
T |
2: 3,438,993 (GRCm39) |
Q51L |
probably damaging |
Het |
| Dhx37 |
A |
C |
5: 125,498,103 (GRCm39) |
I702S |
possibly damaging |
Het |
| Dnah3 |
G |
T |
7: 119,542,822 (GRCm39) |
A3530D |
possibly damaging |
Het |
| Dnajc13 |
T |
C |
9: 104,091,387 (GRCm39) |
R635G |
probably damaging |
Het |
| Dnhd1 |
A |
G |
7: 105,354,217 (GRCm39) |
S3066G |
possibly damaging |
Het |
| Doc2b |
T |
A |
11: 75,676,941 (GRCm39) |
H144L |
probably damaging |
Het |
| Eif2b3 |
T |
A |
4: 116,885,692 (GRCm39) |
I78N |
probably damaging |
Het |
| Enpp1 |
A |
T |
10: 24,523,137 (GRCm39) |
H767Q |
probably benign |
Het |
| Fam180a |
C |
A |
6: 35,290,461 (GRCm39) |
*174L |
probably null |
Het |
| Gabra1 |
A |
T |
11: 42,073,742 (GRCm39) |
|
probably benign |
Het |
| Gfral |
C |
T |
9: 76,104,328 (GRCm39) |
R228Q |
probably benign |
Het |
| Gm16551 |
T |
A |
9: 74,756,535 (GRCm39) |
|
noncoding transcript |
Het |
| Ifi213 |
C |
A |
1: 173,396,360 (GRCm39) |
|
probably benign |
Het |
| Inpp4a |
T |
C |
1: 37,411,410 (GRCm39) |
V358A |
possibly damaging |
Het |
| Kmt2a |
T |
C |
9: 44,731,201 (GRCm39) |
|
probably benign |
Het |
| Mrgprb13 |
A |
T |
7: 47,961,946 (GRCm39) |
|
noncoding transcript |
Het |
| Mtrex |
A |
T |
13: 113,027,819 (GRCm39) |
N680K |
probably benign |
Het |
| Nckap5 |
A |
G |
1: 125,955,439 (GRCm39) |
F371S |
probably damaging |
Het |
| Nudcd1 |
G |
A |
15: 44,251,879 (GRCm39) |
Q428* |
probably null |
Het |
| Pcdhgc5 |
C |
A |
18: 37,954,559 (GRCm39) |
P611Q |
probably damaging |
Het |
| Prrt1 |
T |
C |
17: 34,850,931 (GRCm39) |
|
probably null |
Het |
| Ptpn12 |
G |
A |
5: 21,194,013 (GRCm39) |
T753I |
possibly damaging |
Het |
| Samsn1 |
T |
C |
16: 75,673,336 (GRCm39) |
D180G |
probably damaging |
Het |
| Sh2d2a |
T |
A |
3: 87,756,820 (GRCm39) |
|
probably benign |
Het |
| Slc12a2 |
T |
A |
18: 58,045,091 (GRCm39) |
|
probably null |
Het |
| Socs3 |
T |
A |
11: 117,858,608 (GRCm39) |
Q150L |
probably benign |
Het |
| Supt6 |
A |
G |
11: 78,124,412 (GRCm39) |
V23A |
unknown |
Het |
| Tcf12 |
T |
C |
9: 71,792,518 (GRCm39) |
Y119C |
probably damaging |
Het |
| Them5 |
A |
G |
3: 94,253,908 (GRCm39) |
E210G |
probably damaging |
Het |
| Tmem135 |
A |
G |
7: 88,845,330 (GRCm39) |
F167S |
possibly damaging |
Het |
| Tmem170 |
A |
G |
8: 112,593,032 (GRCm39) |
V134A |
possibly damaging |
Het |
| Trbv20 |
A |
G |
6: 41,165,725 (GRCm39) |
Y50C |
probably damaging |
Het |
| Uroc1 |
A |
G |
6: 90,321,179 (GRCm39) |
M252V |
probably damaging |
Het |
| Wasf1 |
G |
A |
10: 40,802,570 (GRCm39) |
R75Q |
probably damaging |
Het |
| Xpnpep3 |
T |
A |
15: 81,300,065 (GRCm39) |
|
probably benign |
Het |
| Yars1 |
C |
T |
4: 129,090,690 (GRCm39) |
T78M |
probably damaging |
Het |
| Zdhhc16 |
T |
A |
19: 41,926,572 (GRCm39) |
H98Q |
probably damaging |
Het |
| Zfp90 |
T |
C |
8: 107,150,605 (GRCm39) |
L106P |
probably benign |
Het |
| Zscan22 |
T |
G |
7: 12,637,853 (GRCm39) |
S82A |
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 |
|
|
R5695:Plekhb1
|
UTSW |
7 |
100,304,602 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5696:Plekhb1
|
UTSW |
7 |
100,305,960 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- ATCACTGTTTGGTAGACTGGC -3'
(R):5'- AATCTATGGGGAGGCCATACC -3'
Sequencing Primer
(F):5'- AGACTGGCTGAGTGGGGC -3'
(R):5'- TTCCCTTTAGCCCTGGGGAG -3'
|
| Posted On |
2016-12-15 |
Incidental Mutation