Incidental Mutation 'R0848:Plekhn1'
ID |
77410 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Plekhn1
|
Ensembl Gene |
ENSMUSG00000078485 |
Gene Name |
pleckstrin homology domain containing, family N member 1 |
Synonyms |
|
MMRRC Submission |
039027-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.117)
|
Stock # |
R0848 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
156305913-156312999 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to G
at 156308021 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151311
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105571]
[ENSMUST00000105571]
[ENSMUST00000105572]
[ENSMUST00000217885]
[ENSMUST00000218699]
|
AlphaFold |
Q8C886 |
Predicted Effect |
probably null
Transcript: ENSMUST00000105571
|
SMART Domains |
Protein: ENSMUSP00000101196 Gene: ENSMUSG00000078485
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 null
Transcript: ENSMUST00000105571
|
SMART Domains |
Protein: ENSMUSP00000101196 Gene: ENSMUSG00000078485
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 null
Transcript: ENSMUST00000217885
|
Predicted Effect |
probably null
Transcript: ENSMUST00000218699
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219227
|
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 94.5%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aass |
A |
T |
6: 23,114,984 (GRCm39) |
H181Q |
probably damaging |
Het |
Abca13 |
T |
A |
11: 9,632,011 (GRCm39) |
L4977* |
probably null |
Het |
Abca8a |
T |
A |
11: 109,919,016 (GRCm39) |
Y1550F |
probably damaging |
Het |
Actr2 |
C |
T |
11: 20,022,584 (GRCm39) |
E296K |
probably benign |
Het |
Agtpbp1 |
A |
T |
13: 59,681,753 (GRCm39) |
|
probably benign |
Het |
Anks1b |
A |
C |
10: 89,906,987 (GRCm39) |
E268A |
probably damaging |
Het |
C1rl |
A |
G |
6: 124,485,465 (GRCm39) |
T279A |
probably benign |
Het |
C5ar2 |
T |
C |
7: 15,971,526 (GRCm39) |
T134A |
probably benign |
Het |
Cdkl3 |
G |
A |
11: 51,902,094 (GRCm39) |
R101Q |
probably damaging |
Het |
Celsr2 |
A |
T |
3: 108,321,654 (GRCm39) |
F386Y |
probably benign |
Het |
Chd1 |
C |
T |
17: 15,990,503 (GRCm39) |
P1685L |
probably damaging |
Het |
Chrne |
G |
T |
11: 70,506,239 (GRCm39) |
H402Q |
probably benign |
Het |
Clvs1 |
A |
G |
4: 9,282,003 (GRCm39) |
D149G |
possibly damaging |
Het |
Cntnap5b |
T |
C |
1: 100,182,888 (GRCm39) |
Y620H |
probably benign |
Het |
Col6a1 |
A |
G |
10: 76,549,458 (GRCm39) |
|
probably null |
Het |
Cyp2d26 |
T |
A |
15: 82,674,434 (GRCm39) |
I483F |
probably benign |
Het |
Dlx6 |
C |
T |
6: 6,863,665 (GRCm39) |
Q96* |
probably null |
Het |
Dmac2l |
A |
T |
12: 69,788,584 (GRCm39) |
H161L |
probably benign |
Het |
Eif1a |
T |
A |
18: 46,741,114 (GRCm39) |
N116K |
possibly damaging |
Het |
Epb41l5 |
A |
T |
1: 119,477,684 (GRCm39) |
C696S |
probably benign |
Het |
Exoc7 |
A |
G |
11: 116,186,074 (GRCm39) |
S376P |
possibly damaging |
Het |
Fads1 |
C |
T |
19: 10,160,429 (GRCm39) |
P5L |
probably benign |
Het |
G3bp1 |
T |
C |
11: 55,389,452 (GRCm39) |
F383L |
probably damaging |
Het |
Gimap7 |
T |
C |
6: 48,700,657 (GRCm39) |
I81T |
probably damaging |
Het |
Gtf2a1l |
T |
C |
17: 89,001,657 (GRCm39) |
V171A |
probably damaging |
Het |
Hax1 |
A |
G |
3: 89,902,940 (GRCm39) |
S253P |
probably damaging |
Het |
Hsd3b5 |
A |
T |
3: 98,526,671 (GRCm39) |
D258E |
probably damaging |
Het |
Kcnb1 |
G |
T |
2: 166,948,187 (GRCm39) |
F220L |
probably damaging |
Het |
Kif1a |
T |
A |
1: 92,947,620 (GRCm39) |
Y1708F |
probably damaging |
Het |
Krt14 |
A |
T |
11: 100,095,090 (GRCm39) |
I379N |
probably damaging |
Het |
Lpxn |
A |
G |
19: 12,781,401 (GRCm39) |
I40V |
probably benign |
Het |
Lrp1 |
C |
T |
10: 127,389,231 (GRCm39) |
|
probably null |
Het |
Lyst |
G |
A |
13: 13,809,515 (GRCm39) |
R395H |
probably benign |
Het |
Mindy4 |
G |
A |
6: 55,295,271 (GRCm39) |
W737* |
probably null |
Het |
Mki67 |
C |
A |
7: 135,302,772 (GRCm39) |
R754L |
probably benign |
Het |
Morf4l1 |
A |
G |
9: 89,982,502 (GRCm39) |
V144A |
probably benign |
Het |
Mvb12a |
T |
C |
8: 71,998,422 (GRCm39) |
S186P |
probably benign |
Het |
Myrf |
G |
C |
19: 10,195,526 (GRCm39) |
T428S |
probably benign |
Het |
Nipal1 |
A |
G |
5: 72,825,183 (GRCm39) |
N292S |
probably damaging |
Het |
Nqo2 |
T |
G |
13: 34,156,461 (GRCm39) |
|
probably null |
Het |
Or14a256 |
T |
C |
7: 86,264,848 (GRCm39) |
Y335C |
probably damaging |
Het |
Or2d3b |
A |
G |
7: 106,514,200 (GRCm39) |
K265R |
probably benign |
Het |
Or5ak24 |
A |
T |
2: 85,260,365 (GRCm39) |
N269K |
probably benign |
Het |
Or6c214 |
C |
T |
10: 129,591,077 (GRCm39) |
V81I |
probably benign |
Het |
Osbpl7 |
C |
A |
11: 96,951,350 (GRCm39) |
P507Q |
probably damaging |
Het |
Pcdhb1 |
G |
A |
18: 37,400,475 (GRCm39) |
G809S |
probably benign |
Het |
Pcm1 |
T |
C |
8: 41,735,720 (GRCm39) |
V846A |
probably damaging |
Het |
Phf3 |
A |
G |
1: 30,902,253 (GRCm39) |
L20P |
probably damaging |
Het |
Pih1d1 |
A |
G |
7: 44,807,041 (GRCm39) |
T58A |
probably damaging |
Het |
Plvap |
A |
T |
8: 71,959,526 (GRCm39) |
L422Q |
probably damaging |
Het |
Polq |
C |
T |
16: 36,882,492 (GRCm39) |
A1273V |
probably benign |
Het |
Prelid2 |
T |
A |
18: 42,068,289 (GRCm39) |
I51F |
probably damaging |
Het |
Ptpn18 |
G |
A |
1: 34,501,783 (GRCm39) |
D8N |
probably damaging |
Het |
Ptpra |
T |
A |
2: 130,360,911 (GRCm39) |
F190Y |
probably damaging |
Het |
Pus7l |
A |
G |
15: 94,438,393 (GRCm39) |
S151P |
probably benign |
Het |
Rsph6a |
G |
A |
7: 18,791,595 (GRCm39) |
D255N |
probably benign |
Het |
Serpinb6c |
A |
T |
13: 34,083,288 (GRCm39) |
V42D |
probably damaging |
Het |
Slc7a13 |
A |
G |
4: 19,818,866 (GRCm39) |
N22S |
probably benign |
Het |
Snx5 |
G |
A |
2: 144,095,726 (GRCm39) |
R312C |
probably damaging |
Het |
Stard9 |
T |
C |
2: 120,526,304 (GRCm39) |
S854P |
probably damaging |
Het |
Syne2 |
AAGAG |
AAGAGAGAG |
12: 76,144,733 (GRCm39) |
|
probably null |
Het |
Syne2 |
AGAGTGAG |
AGAGTGAGTGAG |
12: 76,144,734 (GRCm39) |
|
probably null |
Het |
Tlr12 |
A |
G |
4: 128,510,084 (GRCm39) |
I722T |
probably benign |
Het |
Tmem101 |
A |
T |
11: 102,046,692 (GRCm39) |
M59K |
possibly damaging |
Het |
Trim34a |
C |
T |
7: 103,910,331 (GRCm39) |
R378C |
probably benign |
Het |
Trim35 |
T |
A |
14: 66,546,574 (GRCm39) |
M447K |
probably benign |
Het |
Trps1 |
C |
A |
15: 50,524,945 (GRCm39) |
S704I |
possibly damaging |
Het |
Vmn1r231 |
T |
A |
17: 21,110,433 (GRCm39) |
S161C |
probably damaging |
Het |
Vps13a |
A |
C |
19: 16,676,261 (GRCm39) |
N1237K |
probably damaging |
Het |
Zfp619 |
G |
T |
7: 39,185,983 (GRCm39) |
C671F |
probably damaging |
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 |
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 |
R7626:Plekhn1
|
UTSW |
4 |
156,310,110 (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'- CTCCGTCCATTGGAAGAGAGTGAAC -3'
(R):5'- ACCGAGAACTAGCCACTGCTTGAC -3'
Sequencing Primer
(F):5'- AGTGAACCTCGGCCTCTAC -3'
(R):5'- GAGATGTACTTGTCCTGTCAGACC -3'
|
Posted On |
2013-10-16 |