Incidental Mutation 'R7408:Plekhn1'
| ID |
574842 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plekhn1
|
| Ensembl Gene |
ENSMUSG00000078485 |
| Gene Name |
pleckstrin homology domain containing, family N member 1 |
| Synonyms |
|
| MMRRC Submission |
045489-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.117)
|
| Stock # |
R7408 (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 C
at 156318418 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 68
(N68S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101194
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105569]
[ENSMUST00000179543]
[ENSMUST00000179886]
[ENSMUST00000218699]
|
| AlphaFold |
Q8C886 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105569
AA Change: N68S
PolyPhen 2
Score 0.145 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000101194
Gene: ENSMUSG00000078485
AA Change: N68S
| 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: ENSMUST00000179543
|
| SMART Domains |
Protein: ENSMUSP00000137253
Gene: ENSMUSG00000095567
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
58 |
N/A |
INTRINSIC |
|
low complexity region
|
97 |
114 |
N/A |
INTRINSIC |
|
low complexity region
|
121 |
139 |
N/A |
INTRINSIC |
|
Pfam:Noc2
|
331 |
626 |
1.8e-128 |
PFAM |
|
low complexity region
|
651 |
675 |
N/A |
INTRINSIC |
|
low complexity region
|
701 |
723 |
N/A |
INTRINSIC |
|
low complexity region
|
738 |
750 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000179886
|
| SMART Domains |
Protein: ENSMUSP00000137183
Gene: ENSMUSG00000095567
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Noc2
|
172 |
470 |
1.2e-117 |
PFAM |
|
low complexity region
|
494 |
518 |
N/A |
INTRINSIC |
|
low complexity region
|
544 |
566 |
N/A |
INTRINSIC |
|
low complexity region
|
581 |
593 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218699
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (71/71) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agfg1 |
T |
C |
1: 82,860,030 (GRCm39) |
F299S |
probably damaging |
Het |
| Arhgap32 |
A |
T |
9: 32,157,220 (GRCm39) |
E72D |
probably benign |
Het |
| Arid1a |
G |
T |
4: 133,408,391 (GRCm39) |
Q1654K |
unknown |
Het |
| Atp6v1f |
A |
C |
6: 29,470,194 (GRCm39) |
H96P |
probably damaging |
Het |
| Cast |
A |
G |
13: 74,887,960 (GRCm39) |
V161A |
probably damaging |
Het |
| Ccdc186 |
A |
T |
19: 56,796,610 (GRCm39) |
C320S |
probably damaging |
Het |
| Cgn |
T |
A |
3: 94,670,362 (GRCm39) |
K1031* |
probably null |
Het |
| Cnot10 |
T |
C |
9: 114,460,894 (GRCm39) |
N92S |
probably benign |
Het |
| Crat |
C |
T |
2: 30,294,577 (GRCm39) |
R497Q |
probably benign |
Het |
| Cstf2t |
T |
C |
19: 31,060,593 (GRCm39) |
V43A |
possibly damaging |
Het |
| D930020B18Rik |
T |
C |
10: 121,525,739 (GRCm39) |
L547P |
probably damaging |
Het |
| Dennd1a |
G |
A |
2: 37,742,184 (GRCm39) |
|
probably null |
Het |
| Dtnb |
T |
A |
12: 3,694,272 (GRCm39) |
|
probably null |
Het |
| Entpd1 |
A |
G |
19: 40,727,309 (GRCm39) |
N486D |
possibly damaging |
Het |
| Fes |
G |
A |
7: 80,028,410 (GRCm39) |
R736C |
probably damaging |
Het |
| Galr1 |
T |
G |
18: 82,411,990 (GRCm39) |
Y292S |
probably damaging |
Het |
| Gda |
T |
A |
19: 21,405,988 (GRCm39) |
D80V |
probably damaging |
Het |
| Ghr |
A |
G |
15: 3,377,054 (GRCm39) |
C56R |
probably benign |
Het |
| Golgb1 |
A |
G |
16: 36,718,909 (GRCm39) |
T313A |
probably damaging |
Het |
| Gpaa1 |
A |
T |
15: 76,217,193 (GRCm39) |
D236V |
probably damaging |
Het |
| Gsdmc |
A |
G |
15: 63,676,315 (GRCm39) |
S43P |
probably benign |
Het |
| Gsdmd |
A |
G |
15: 75,738,202 (GRCm39) |
E295G |
probably damaging |
Het |
| Htatip2 |
A |
G |
7: 49,409,534 (GRCm39) |
K96R |
probably benign |
Het |
| Insm1 |
T |
A |
2: 146,064,711 (GRCm39) |
F176I |
probably benign |
Het |
| Itih1 |
T |
C |
14: 30,665,117 (GRCm39) |
E36G |
probably benign |
Het |
| Jak1 |
A |
G |
4: 101,032,379 (GRCm39) |
V409A |
probably damaging |
Het |
| Knl1 |
A |
G |
2: 118,901,073 (GRCm39) |
I925V |
possibly damaging |
Het |
| Lcmt2 |
A |
G |
2: 120,969,185 (GRCm39) |
S413P |
probably benign |
Het |
| Lmo7 |
T |
C |
14: 102,118,389 (GRCm39) |
S205P |
probably damaging |
Het |
| Lrch3 |
C |
A |
16: 32,807,113 (GRCm39) |
S462* |
probably null |
Het |
| Lrrtm2 |
T |
C |
18: 35,346,688 (GRCm39) |
I205V |
possibly damaging |
Het |
| Mark3 |
T |
G |
12: 111,600,223 (GRCm39) |
N479K |
probably damaging |
Het |
| Mrpl19 |
C |
T |
6: 81,942,793 (GRCm39) |
G39D |
possibly damaging |
Het |
| Msh4 |
A |
G |
3: 153,582,382 (GRCm39) |
Y497H |
probably benign |
Het |
| Msl2 |
T |
A |
9: 100,979,316 (GRCm39) |
D563E |
probably benign |
Het |
| Mta1 |
G |
A |
12: 113,095,088 (GRCm39) |
|
probably null |
Het |
| Nalcn |
T |
A |
14: 123,529,272 (GRCm39) |
Q1401L |
probably benign |
Het |
| Ncapg |
T |
C |
5: 45,853,135 (GRCm39) |
L867P |
probably benign |
Het |
| Nkapl |
T |
C |
13: 21,652,013 (GRCm39) |
D200G |
unknown |
Het |
| Nos1 |
A |
C |
5: 118,005,583 (GRCm39) |
E101A |
probably damaging |
Het |
| Npat |
T |
C |
9: 53,481,216 (GRCm39) |
S1008P |
probably damaging |
Het |
| Ntng1 |
A |
G |
3: 109,760,398 (GRCm39) |
I358T |
probably benign |
Het |
| Or11h6 |
A |
G |
14: 50,879,852 (GRCm39) |
E32G |
probably benign |
Het |
| Or13p4 |
C |
T |
4: 118,546,859 (GRCm39) |
M263I |
probably damaging |
Het |
| Or2d2b |
A |
G |
7: 106,705,274 (GRCm39) |
S265P |
probably benign |
Het |
| Or4b1 |
T |
A |
2: 89,980,188 (GRCm39) |
H54L |
probably benign |
Het |
| Or6c88 |
A |
G |
10: 129,406,493 (GRCm39) |
|
probably benign |
Het |
| Pex1 |
A |
G |
5: 3,680,222 (GRCm39) |
D948G |
probably damaging |
Het |
| Pkd1l2 |
A |
T |
8: 117,755,218 (GRCm39) |
I1660N |
possibly damaging |
Het |
| Pkp2 |
T |
A |
16: 16,079,537 (GRCm39) |
Y540N |
possibly damaging |
Het |
| Pkp4 |
T |
C |
2: 59,142,110 (GRCm39) |
L471P |
probably damaging |
Het |
| Plekhm3 |
A |
T |
1: 64,977,143 (GRCm39) |
M109K |
probably benign |
Het |
| Pramel7 |
T |
A |
2: 87,321,189 (GRCm39) |
D282V |
possibly damaging |
Het |
| Pxdn |
T |
C |
12: 30,040,944 (GRCm39) |
Y407H |
probably benign |
Het |
| Rab3ip |
T |
C |
10: 116,773,546 (GRCm39) |
D89G |
possibly damaging |
Het |
| Rad17 |
G |
A |
13: 100,766,019 (GRCm39) |
Q370* |
probably null |
Het |
| Robo4 |
T |
C |
9: 37,322,277 (GRCm39) |
C751R |
probably benign |
Het |
| Sez6 |
A |
G |
11: 77,844,356 (GRCm39) |
T60A |
probably damaging |
Het |
| Socs4 |
A |
G |
14: 47,527,296 (GRCm39) |
H77R |
probably benign |
Het |
| Srrm3 |
T |
A |
5: 135,881,060 (GRCm39) |
M120K |
probably benign |
Het |
| Steap4 |
A |
T |
5: 8,028,453 (GRCm39) |
I344F |
probably benign |
Het |
| Stk36 |
T |
A |
1: 74,672,725 (GRCm39) |
F989Y |
probably damaging |
Het |
| Toporsl |
A |
T |
4: 52,612,108 (GRCm39) |
Q667L |
probably benign |
Het |
| Tspan17 |
T |
C |
13: 54,937,466 (GRCm39) |
F20S |
probably benign |
Het |
| Tubgcp3 |
G |
A |
8: 12,711,359 (GRCm39) |
Q65* |
probably null |
Het |
| Ush2a |
A |
T |
1: 188,465,726 (GRCm39) |
I2765F |
probably benign |
Het |
| Vwa8 |
A |
C |
14: 79,219,674 (GRCm39) |
|
probably null |
Het |
| Wdfy4 |
A |
G |
14: 32,800,264 (GRCm39) |
V1954A |
|
Het |
| Xrn2 |
T |
A |
2: 146,884,017 (GRCm39) |
|
probably null |
Het |
| Zfp687 |
C |
T |
3: 94,914,841 (GRCm39) |
R1220H |
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 |
|
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 |
|
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'- CTGCCCAGACTGTTGTATGTGG -3'
(R):5'- ACGAACTCCTGGGCATAGAC -3'
Sequencing Primer
(F):5'- GTACTTGCTTGTGAACATGGC -3'
(R):5'- ATAGACCGCAGCTGCCTTG -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation