Incidental Mutation 'R7626:Plekhn1'
ID |
589437 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Plekhn1
|
Ensembl Gene |
ENSMUSG00000078485 |
Gene Name |
pleckstrin homology domain containing, family N member 1 |
Synonyms |
|
MMRRC Submission |
045690-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.117)
|
Stock # |
R7626 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
156305913-156312999 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 156310110 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Leucine
at position 68
(H68L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151311
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105569]
[ENSMUST00000105571]
[ENSMUST00000105572]
[ENSMUST00000217885]
[ENSMUST00000218699]
|
AlphaFold |
Q8C886 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000105569
|
SMART Domains |
Protein: ENSMUSP00000101194 Gene: ENSMUSG00000078485
Domain | Start | End | E-Value | Type |
low complexity region
|
20 |
50 |
N/A |
INTRINSIC |
BTB
|
90 |
187 |
3.55e-30 |
SMART |
BACK
|
192 |
294 |
1.08e-42 |
SMART |
Kelch
|
341 |
387 |
4.01e-8 |
SMART |
Kelch
|
388 |
434 |
5.41e-14 |
SMART |
Kelch
|
435 |
481 |
6.97e-17 |
SMART |
Kelch
|
482 |
528 |
1.55e-14 |
SMART |
Kelch
|
529 |
575 |
2.02e-13 |
SMART |
Kelch
|
576 |
622 |
1.34e-9 |
SMART |
low complexity region
|
626 |
640 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000105571
AA Change: H68L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000101196 Gene: ENSMUSG00000078485 AA Change: H68L
Domain | Start | End | E-Value | Type |
PH
|
96 |
192 |
4.6e-4 |
SMART |
PH
|
227 |
324 |
8.34e-2 |
SMART |
low complexity region
|
346 |
359 |
N/A |
INTRINSIC |
low complexity region
|
403 |
414 |
N/A |
INTRINSIC |
low complexity region
|
499 |
527 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000105572
|
SMART Domains |
Protein: ENSMUSP00000101197 Gene: ENSMUSG00000078486
Domain | Start | End | E-Value | Type |
low complexity region
|
40 |
58 |
N/A |
INTRINSIC |
low complexity region
|
145 |
160 |
N/A |
INTRINSIC |
low complexity region
|
441 |
452 |
N/A |
INTRINSIC |
low complexity region
|
544 |
553 |
N/A |
INTRINSIC |
low complexity region
|
606 |
616 |
N/A |
INTRINSIC |
low complexity region
|
790 |
806 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000217885
AA Change: H68L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000218699
AA Change: H68L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
Validation Efficiency |
100% (56/56) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acta2 |
G |
A |
19: 34,229,931 (GRCm39) |
T8I |
probably benign |
Het |
Alox5 |
T |
C |
6: 116,390,756 (GRCm39) |
D465G |
possibly damaging |
Het |
Arhgef16 |
T |
A |
4: 154,367,339 (GRCm39) |
K355N |
possibly damaging |
Het |
Camkk2 |
T |
A |
5: 122,902,363 (GRCm39) |
|
probably benign |
Het |
Ccdc171 |
C |
T |
4: 83,499,012 (GRCm39) |
Q237* |
probably null |
Het |
Ces2b |
T |
C |
8: 105,564,017 (GRCm39) |
Y464H |
possibly damaging |
Het |
Cntfr |
A |
G |
4: 41,662,013 (GRCm39) |
F243S |
possibly damaging |
Het |
Crip3 |
A |
T |
17: 46,740,791 (GRCm39) |
R65S |
probably benign |
Het |
Dcn |
A |
G |
10: 97,319,340 (GRCm39) |
Y39C |
possibly damaging |
Het |
Degs2 |
T |
C |
12: 108,658,332 (GRCm39) |
S216G |
possibly damaging |
Het |
Dmxl1 |
A |
G |
18: 50,035,861 (GRCm39) |
I2295V |
probably benign |
Het |
Dnah2 |
A |
G |
11: 69,389,511 (GRCm39) |
S794P |
probably damaging |
Het |
Eri1 |
A |
C |
8: 35,941,554 (GRCm39) |
Y264* |
probably null |
Het |
Etl4 |
T |
C |
2: 20,718,189 (GRCm39) |
L179P |
probably damaging |
Het |
F5 |
T |
G |
1: 164,014,481 (GRCm39) |
M584R |
possibly damaging |
Het |
Fam98c |
G |
T |
7: 28,852,248 (GRCm39) |
R104S |
probably damaging |
Het |
Flad1 |
A |
T |
3: 89,310,718 (GRCm39) |
I443N |
probably benign |
Het |
Hbp1 |
T |
C |
12: 31,993,899 (GRCm39) |
E43G |
probably benign |
Het |
Hivep3 |
CGG |
CG |
4: 119,955,108 (GRCm39) |
1141 |
probably null |
Het |
Kcnj3 |
T |
A |
2: 55,484,833 (GRCm39) |
C310* |
probably null |
Het |
Lct |
T |
C |
1: 128,212,932 (GRCm39) |
Y1907C |
probably damaging |
Het |
Loxhd1 |
T |
C |
18: 77,518,882 (GRCm39) |
V1896A |
possibly damaging |
Het |
Lrfn4 |
C |
A |
19: 4,663,679 (GRCm39) |
R285L |
probably damaging |
Het |
Ltb4r2 |
T |
A |
14: 56,000,338 (GRCm39) |
S320T |
probably damaging |
Het |
Mmd |
G |
T |
11: 90,148,378 (GRCm39) |
R20L |
probably damaging |
Het |
Mmp1a |
TG |
TGG |
9: 7,465,083 (GRCm38) |
|
probably null |
Het |
Nbas |
T |
C |
12: 13,608,661 (GRCm39) |
S2146P |
probably benign |
Het |
Nop14 |
A |
G |
5: 34,809,135 (GRCm39) |
F319L |
probably damaging |
Het |
Numa1 |
C |
A |
7: 101,648,630 (GRCm39) |
T787K |
probably benign |
Het |
Or10q12 |
T |
G |
19: 13,745,709 (GRCm39) |
M1R |
probably null |
Het |
Or2t46 |
A |
C |
11: 58,471,999 (GRCm39) |
T110P |
probably damaging |
Het |
Or6c208 |
T |
G |
10: 129,223,726 (GRCm39) |
C75G |
possibly damaging |
Het |
Patj |
T |
C |
4: 98,435,224 (GRCm39) |
V2A |
probably benign |
Het |
Pisd |
T |
C |
5: 32,898,032 (GRCm39) |
H52R |
probably benign |
Het |
Plekhg6 |
A |
T |
6: 125,340,631 (GRCm39) |
D576E |
probably benign |
Het |
Ppp1r37 |
T |
A |
7: 19,295,778 (GRCm39) |
I60F |
probably damaging |
Het |
Ppp2r1b |
C |
T |
9: 50,789,476 (GRCm39) |
T513M |
possibly damaging |
Het |
Pramel32 |
A |
T |
4: 88,548,279 (GRCm39) |
I42N |
probably damaging |
Het |
Rhobtb2 |
C |
A |
14: 70,034,386 (GRCm39) |
A280S |
probably damaging |
Het |
Rnf40 |
A |
G |
7: 127,189,047 (GRCm39) |
D140G |
probably benign |
Het |
Rxfp1 |
A |
G |
3: 79,555,397 (GRCm39) |
L653P |
probably damaging |
Het |
Satb1 |
A |
T |
17: 52,074,995 (GRCm39) |
D500E |
probably benign |
Het |
Slc15a1 |
A |
T |
14: 121,713,377 (GRCm39) |
D383E |
probably benign |
Het |
Smarcad1 |
C |
A |
6: 65,073,033 (GRCm39) |
S604R |
possibly damaging |
Het |
St7 |
A |
G |
6: 17,934,216 (GRCm39) |
T533A |
probably damaging |
Het |
Sv2c |
T |
A |
13: 96,122,451 (GRCm39) |
T442S |
probably benign |
Het |
Tbx2 |
A |
G |
11: 85,731,622 (GRCm39) |
T640A |
probably benign |
Het |
Tenm4 |
T |
A |
7: 96,542,221 (GRCm39) |
N1948K |
probably damaging |
Het |
Tll1 |
T |
C |
8: 64,551,268 (GRCm39) |
|
probably null |
Het |
Tmem135 |
A |
T |
7: 88,805,718 (GRCm39) |
|
probably null |
Het |
Tonsl |
A |
T |
15: 76,518,136 (GRCm39) |
L582Q |
probably null |
Het |
Unc13c |
T |
A |
9: 73,641,799 (GRCm39) |
K1231N |
probably damaging |
Het |
Vmn2r101 |
T |
A |
17: 19,832,192 (GRCm39) |
Y729* |
probably null |
Het |
Zcchc2 |
A |
G |
1: 105,928,742 (GRCm39) |
T334A |
possibly damaging |
Het |
Zfp655 |
T |
C |
5: 145,173,917 (GRCm39) |
L136P |
probably damaging |
Het |
Zfp729a |
A |
T |
13: 67,768,437 (GRCm39) |
C597* |
probably null |
Het |
|
Other mutations in Plekhn1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00162:Plekhn1
|
APN |
4 |
156,307,820 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00473:Plekhn1
|
APN |
4 |
156,307,820 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02104:Plekhn1
|
APN |
4 |
156,306,865 (GRCm39) |
missense |
probably benign |
0.25 |
IGL02122:Plekhn1
|
APN |
4 |
156,308,313 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02210:Plekhn1
|
APN |
4 |
156,308,106 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4142001:Plekhn1
|
UTSW |
4 |
156,309,397 (GRCm39) |
nonsense |
probably null |
|
PIT4366001:Plekhn1
|
UTSW |
4 |
156,309,268 (GRCm39) |
missense |
probably damaging |
0.99 |
R0123:Plekhn1
|
UTSW |
4 |
156,312,700 (GRCm39) |
missense |
probably benign |
0.13 |
R0134:Plekhn1
|
UTSW |
4 |
156,312,700 (GRCm39) |
missense |
probably benign |
0.13 |
R0225:Plekhn1
|
UTSW |
4 |
156,312,700 (GRCm39) |
missense |
probably benign |
0.13 |
R0276:Plekhn1
|
UTSW |
4 |
156,312,703 (GRCm39) |
missense |
probably damaging |
0.99 |
R0282:Plekhn1
|
UTSW |
4 |
156,312,780 (GRCm39) |
splice site |
probably benign |
|
R0540:Plekhn1
|
UTSW |
4 |
156,307,204 (GRCm39) |
missense |
possibly damaging |
0.87 |
R0569:Plekhn1
|
UTSW |
4 |
156,309,658 (GRCm39) |
missense |
probably damaging |
1.00 |
R0656:Plekhn1
|
UTSW |
4 |
156,309,821 (GRCm39) |
missense |
possibly damaging |
0.55 |
R0798:Plekhn1
|
UTSW |
4 |
156,312,720 (GRCm39) |
missense |
probably damaging |
0.96 |
R0848:Plekhn1
|
UTSW |
4 |
156,308,021 (GRCm39) |
critical splice donor site |
probably null |
|
R1803:Plekhn1
|
UTSW |
4 |
156,306,838 (GRCm39) |
missense |
probably benign |
0.20 |
R2168:Plekhn1
|
UTSW |
4 |
156,306,339 (GRCm39) |
missense |
probably damaging |
0.99 |
R2356:Plekhn1
|
UTSW |
4 |
156,307,158 (GRCm39) |
missense |
probably damaging |
1.00 |
R2516:Plekhn1
|
UTSW |
4 |
156,307,116 (GRCm39) |
missense |
probably damaging |
1.00 |
R3746:Plekhn1
|
UTSW |
4 |
156,310,051 (GRCm39) |
missense |
probably benign |
0.00 |
R3818:Plekhn1
|
UTSW |
4 |
156,309,990 (GRCm39) |
missense |
probably damaging |
1.00 |
R3902:Plekhn1
|
UTSW |
4 |
156,310,126 (GRCm39) |
missense |
possibly damaging |
0.75 |
R4024:Plekhn1
|
UTSW |
4 |
156,309,207 (GRCm39) |
missense |
probably damaging |
1.00 |
R4057:Plekhn1
|
UTSW |
4 |
156,309,150 (GRCm39) |
splice site |
probably null |
|
R4176:Plekhn1
|
UTSW |
4 |
156,306,258 (GRCm39) |
missense |
probably benign |
0.02 |
R4402:Plekhn1
|
UTSW |
4 |
156,309,813 (GRCm39) |
missense |
probably damaging |
1.00 |
R4405:Plekhn1
|
UTSW |
4 |
156,309,730 (GRCm39) |
splice site |
probably null |
|
R4477:Plekhn1
|
UTSW |
4 |
156,307,856 (GRCm39) |
missense |
probably damaging |
1.00 |
R4515:Plekhn1
|
UTSW |
4 |
156,309,988 (GRCm39) |
missense |
probably damaging |
1.00 |
R4517:Plekhn1
|
UTSW |
4 |
156,309,988 (GRCm39) |
missense |
probably damaging |
1.00 |
R4518:Plekhn1
|
UTSW |
4 |
156,309,988 (GRCm39) |
missense |
probably damaging |
1.00 |
R5086:Plekhn1
|
UTSW |
4 |
156,306,881 (GRCm39) |
missense |
probably benign |
0.00 |
R5092:Plekhn1
|
UTSW |
4 |
156,309,222 (GRCm39) |
missense |
possibly damaging |
0.93 |
R5201:Plekhn1
|
UTSW |
4 |
156,314,984 (GRCm39) |
missense |
probably benign |
0.00 |
R5896:Plekhn1
|
UTSW |
4 |
156,308,331 (GRCm39) |
missense |
probably benign |
0.02 |
R5913:Plekhn1
|
UTSW |
4 |
156,307,152 (GRCm39) |
missense |
probably damaging |
1.00 |
R6124:Plekhn1
|
UTSW |
4 |
156,309,696 (GRCm39) |
missense |
possibly damaging |
0.87 |
R6244:Plekhn1
|
UTSW |
4 |
156,315,015 (GRCm39) |
splice site |
probably null |
|
R6263:Plekhn1
|
UTSW |
4 |
156,309,650 (GRCm39) |
critical splice donor site |
probably null |
|
R6430:Plekhn1
|
UTSW |
4 |
156,306,261 (GRCm39) |
missense |
probably benign |
0.00 |
R6703:Plekhn1
|
UTSW |
4 |
156,309,250 (GRCm39) |
missense |
probably benign |
0.00 |
R6723:Plekhn1
|
UTSW |
4 |
156,309,026 (GRCm39) |
missense |
probably damaging |
1.00 |
R6741:Plekhn1
|
UTSW |
4 |
156,306,249 (GRCm39) |
missense |
probably damaging |
0.98 |
R7057:Plekhn1
|
UTSW |
4 |
156,318,374 (GRCm39) |
missense |
probably damaging |
0.99 |
R7135:Plekhn1
|
UTSW |
4 |
156,307,792 (GRCm39) |
missense |
probably benign |
0.04 |
R7347:Plekhn1
|
UTSW |
4 |
156,307,128 (GRCm39) |
missense |
probably benign |
0.00 |
R7408:Plekhn1
|
UTSW |
4 |
156,318,418 (GRCm39) |
missense |
probably benign |
0.14 |
R7423:Plekhn1
|
UTSW |
4 |
156,315,142 (GRCm39) |
missense |
probably benign |
0.15 |
R7500:Plekhn1
|
UTSW |
4 |
156,317,771 (GRCm39) |
missense |
probably benign |
0.19 |
R7613:Plekhn1
|
UTSW |
4 |
156,309,277 (GRCm39) |
missense |
probably benign |
0.00 |
R7738:Plekhn1
|
UTSW |
4 |
156,316,691 (GRCm39) |
missense |
probably damaging |
1.00 |
R8065:Plekhn1
|
UTSW |
4 |
156,312,697 (GRCm39) |
missense |
possibly damaging |
0.75 |
R8067:Plekhn1
|
UTSW |
4 |
156,312,697 (GRCm39) |
missense |
possibly damaging |
0.75 |
R8744:Plekhn1
|
UTSW |
4 |
156,318,364 (GRCm39) |
missense |
probably damaging |
1.00 |
R8746:Plekhn1
|
UTSW |
4 |
156,316,682 (GRCm39) |
missense |
probably damaging |
1.00 |
R8839:Plekhn1
|
UTSW |
4 |
156,307,046 (GRCm39) |
intron |
probably benign |
|
R8841:Plekhn1
|
UTSW |
4 |
156,316,655 (GRCm39) |
missense |
probably damaging |
0.98 |
R8900:Plekhn1
|
UTSW |
4 |
156,310,078 (GRCm39) |
missense |
possibly damaging |
0.87 |
R9208:Plekhn1
|
UTSW |
4 |
156,306,859 (GRCm39) |
missense |
possibly damaging |
0.86 |
R9723:Plekhn1
|
UTSW |
4 |
156,306,875 (GRCm39) |
missense |
probably benign |
0.00 |
X0023:Plekhn1
|
UTSW |
4 |
156,306,811 (GRCm39) |
missense |
possibly damaging |
0.76 |
X0065:Plekhn1
|
UTSW |
4 |
156,309,372 (GRCm39) |
critical splice donor site |
probably null |
|
Z1176:Plekhn1
|
UTSW |
4 |
156,307,888 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
Predicted Primers |
PCR Primer
(F):5'- GTTGGCTCCCACGTATTTGC -3'
(R):5'- AAGTTTATACCATAGAGCGCAGAG -3'
Sequencing Primer
(F):5'- CACGTATTTGCCGACTTGG -3'
(R):5'- CCACTTTTTATGTGACGAGGC -3'
|
Posted On |
2019-10-24 |