Incidental Mutation 'R0569:Plekhn1'
ID |
46295 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Plekhn1
|
Ensembl Gene |
ENSMUSG00000078485 |
Gene Name |
pleckstrin homology domain containing, family N member 1 |
Synonyms |
|
MMRRC Submission |
038760-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.099)
|
Stock # |
R0569 (G1)
|
Quality Score |
208 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
156305913-156312999 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 156309658 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 160
(I160V)
|
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 damaging
Transcript: ENSMUST00000105571
AA Change: I160V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000101196 Gene: ENSMUSG00000078485 AA Change: I160V
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 |
noncoding transcript
Transcript: ENSMUST00000184043
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000217885
AA Change: I160V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000218699
AA Change: I160V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219227
|
Meta Mutation Damage Score |
0.1267 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.8%
|
Validation Efficiency |
97% (56/58) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4833420G17Rik |
A |
G |
13: 119,621,016 (GRCm39) |
I572M |
possibly damaging |
Het |
4930447A16Rik |
T |
C |
15: 37,425,863 (GRCm39) |
M1T |
probably null |
Het |
4930590J08Rik |
C |
A |
6: 91,919,559 (GRCm39) |
C739* |
probably null |
Het |
Adcy1 |
T |
A |
11: 7,096,514 (GRCm39) |
V634E |
probably benign |
Het |
Ankfy1 |
T |
A |
11: 72,644,434 (GRCm39) |
H710Q |
possibly damaging |
Het |
Ankrd60 |
C |
T |
2: 173,412,859 (GRCm39) |
V90M |
probably damaging |
Het |
Asgr2 |
A |
T |
11: 69,988,703 (GRCm39) |
Q132L |
probably benign |
Het |
Cchcr1 |
T |
A |
17: 35,839,865 (GRCm39) |
|
probably null |
Het |
Ces1h |
T |
C |
8: 94,078,774 (GRCm39) |
K523E |
unknown |
Het |
Clec3a |
G |
T |
8: 115,152,476 (GRCm39) |
G161C |
probably damaging |
Het |
Cracr2b |
G |
A |
7: 141,044,848 (GRCm39) |
|
probably benign |
Het |
Cyp2b10 |
A |
T |
7: 25,597,160 (GRCm39) |
L17F |
probably damaging |
Het |
Dhx29 |
T |
A |
13: 113,084,748 (GRCm39) |
N655K |
probably benign |
Het |
Dst |
C |
A |
1: 34,332,508 (GRCm39) |
L4748I |
probably damaging |
Het |
Eif2b5 |
G |
C |
16: 20,321,303 (GRCm39) |
L285F |
probably benign |
Het |
Enox1 |
T |
A |
14: 77,875,117 (GRCm39) |
D441E |
probably damaging |
Het |
Fam110a |
T |
C |
2: 151,812,404 (GRCm39) |
E122G |
probably damaging |
Het |
Fam161b |
T |
A |
12: 84,395,413 (GRCm39) |
E510V |
probably damaging |
Het |
Gabrd |
T |
C |
4: 155,469,880 (GRCm39) |
Y443C |
probably damaging |
Het |
Gcn1 |
T |
G |
5: 115,733,118 (GRCm39) |
S1052A |
probably benign |
Het |
Gnptab |
A |
G |
10: 88,264,419 (GRCm39) |
E279G |
possibly damaging |
Het |
Hoxa6 |
T |
A |
6: 52,185,163 (GRCm39) |
|
probably null |
Het |
Ibtk |
T |
A |
9: 85,590,234 (GRCm39) |
|
probably benign |
Het |
Il6ra |
A |
T |
3: 89,785,149 (GRCm39) |
|
probably null |
Het |
Iqgap3 |
C |
T |
3: 87,998,032 (GRCm39) |
|
probably benign |
Het |
Kcnk2 |
A |
C |
1: 189,071,998 (GRCm39) |
L110R |
probably damaging |
Het |
Knl1 |
T |
A |
2: 118,927,916 (GRCm39) |
V1919D |
possibly damaging |
Het |
Lrp1b |
A |
T |
2: 40,779,251 (GRCm39) |
L2597Q |
probably benign |
Het |
Magi3 |
A |
G |
3: 103,923,358 (GRCm39) |
S1120P |
probably benign |
Het |
Map3k8 |
T |
C |
18: 4,349,162 (GRCm39) |
D52G |
probably benign |
Het |
Mcat |
C |
T |
15: 83,433,449 (GRCm39) |
R198H |
probably benign |
Het |
Mnd1 |
A |
G |
3: 84,012,286 (GRCm39) |
V141A |
probably benign |
Het |
Morc1 |
T |
C |
16: 48,407,485 (GRCm39) |
L667P |
probably benign |
Het |
Mrps6 |
A |
G |
16: 91,908,808 (GRCm39) |
K125E |
possibly damaging |
Het |
Mst1 |
T |
C |
9: 107,959,500 (GRCm39) |
F262S |
probably damaging |
Het |
Or5j3 |
T |
G |
2: 86,128,941 (GRCm39) |
I260M |
probably damaging |
Het |
Or7e178 |
T |
A |
9: 20,225,875 (GRCm39) |
I114F |
probably damaging |
Het |
Pbsn |
C |
G |
X: 76,897,046 (GRCm39) |
G15A |
possibly damaging |
Het |
Pcnx1 |
T |
C |
12: 82,038,804 (GRCm39) |
I2023T |
probably benign |
Het |
Pds5a |
T |
G |
5: 65,813,744 (GRCm39) |
N247T |
probably damaging |
Het |
Peak1 |
T |
C |
9: 56,167,373 (GRCm39) |
Y185C |
probably damaging |
Het |
Phkb |
T |
A |
8: 86,744,031 (GRCm39) |
I560N |
probably damaging |
Het |
Rabgap1 |
T |
G |
2: 37,379,729 (GRCm39) |
|
probably benign |
Het |
Rdh10 |
T |
G |
1: 16,199,517 (GRCm39) |
V241G |
probably damaging |
Het |
Selenow |
A |
T |
7: 15,654,042 (GRCm39) |
C37S |
probably benign |
Het |
Sema6a |
A |
T |
18: 47,403,872 (GRCm39) |
|
probably null |
Het |
Slc12a3 |
T |
C |
8: 95,057,153 (GRCm39) |
|
probably null |
Het |
Slc22a21 |
T |
G |
11: 53,842,636 (GRCm39) |
M498L |
probably benign |
Het |
Spink5 |
A |
T |
18: 44,122,486 (GRCm39) |
N317I |
probably damaging |
Het |
Srek1 |
A |
G |
13: 103,885,370 (GRCm39) |
|
probably benign |
Het |
Syt11 |
A |
G |
3: 88,655,230 (GRCm39) |
V357A |
probably benign |
Het |
Tcof1 |
T |
A |
18: 60,962,107 (GRCm39) |
K707N |
possibly damaging |
Het |
Tfip11 |
C |
T |
5: 112,475,960 (GRCm39) |
R42C |
probably damaging |
Het |
Trim39 |
T |
C |
17: 36,574,623 (GRCm39) |
K260E |
probably benign |
Het |
Ttn |
T |
C |
2: 76,553,663 (GRCm39) |
T22658A |
possibly damaging |
Het |
Unc45b |
C |
T |
11: 82,827,638 (GRCm39) |
|
probably benign |
Het |
Vmn1r236 |
A |
G |
17: 21,507,172 (GRCm39) |
I97V |
probably benign |
Het |
Vps13c |
T |
C |
9: 67,881,001 (GRCm39) |
V657A |
probably damaging |
Het |
Zkscan2 |
A |
G |
7: 123,097,898 (GRCm39) |
V166A |
probably benign |
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 |
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 |
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'- GGCATCGTTGTAGACCCAAGAGAG -3'
(R):5'- ACATTCCAGGTGAGTGGCACAGAC -3'
Sequencing Primer
(F):5'- TTGTAGACCCAAGAGAGCCATTTG -3'
(R):5'- AGTGGCACAGACGGAGG -3'
|
Posted On |
2013-06-11 |