Incidental Mutation 'R5913:Plekhn1'
| ID |
461110 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plekhn1
|
| Ensembl Gene |
ENSMUSG00000078485 |
| Gene Name |
pleckstrin homology domain containing, family N member 1 |
| Synonyms |
|
| MMRRC Submission |
044110-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.117)
|
| Stock # |
R5913 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
156305913-156312999 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 156307152 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 466
(Y466C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151311
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105571]
[ENSMUST00000105572]
[ENSMUST00000217885]
[ENSMUST00000218699]
|
| AlphaFold |
Q8C886 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000105571
AA Change: Y466C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000101196
Gene: ENSMUSG00000078485
AA Change: Y466C
| 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 damaging
Transcript: ENSMUST00000217885
AA Change: Y466C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000218699
AA Change: Y466C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219227
|
| Meta Mutation Damage Score |
0.2380 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.3%
|
| Validation Efficiency |
97% (75/77) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Als2cl |
A |
T |
9: 110,718,773 (GRCm39) |
|
probably null |
Het |
| Arhgef19 |
A |
T |
4: 140,976,609 (GRCm39) |
H457L |
probably benign |
Het |
| Armc3 |
A |
G |
2: 19,314,858 (GRCm39) |
Y856C |
possibly damaging |
Het |
| Bdp1 |
A |
T |
13: 100,187,612 (GRCm39) |
V1585D |
probably benign |
Het |
| Bhlhe40 |
T |
G |
6: 108,642,154 (GRCm39) |
M366R |
possibly damaging |
Het |
| Bora |
C |
T |
14: 99,305,948 (GRCm39) |
S439L |
probably benign |
Het |
| Cacnb4 |
G |
A |
2: 52,324,796 (GRCm39) |
|
probably benign |
Het |
| Carm1 |
T |
C |
9: 21,498,848 (GRCm39) |
S529P |
probably benign |
Het |
| Cd200r1 |
A |
G |
16: 44,610,034 (GRCm39) |
I84M |
possibly damaging |
Het |
| Cd209a |
A |
G |
8: 3,798,742 (GRCm39) |
S22P |
probably benign |
Het |
| Celf2 |
A |
T |
2: 7,085,969 (GRCm39) |
M1K |
probably null |
Het |
| Cep112 |
A |
G |
11: 108,648,514 (GRCm39) |
T783A |
probably damaging |
Het |
| Cep95 |
T |
C |
11: 106,709,335 (GRCm39) |
|
probably benign |
Het |
| Clip4 |
G |
A |
17: 72,131,760 (GRCm39) |
R366K |
probably benign |
Het |
| Csmd2 |
A |
G |
4: 128,445,781 (GRCm39) |
K3284E |
probably benign |
Het |
| Csn3 |
T |
A |
5: 88,075,470 (GRCm39) |
L12Q |
probably damaging |
Het |
| Ctdnep1 |
T |
C |
11: 69,879,691 (GRCm39) |
L39P |
probably damaging |
Het |
| Cxcl17 |
C |
T |
7: 25,101,671 (GRCm39) |
W55* |
probably null |
Het |
| Cyp2u1 |
G |
A |
3: 131,096,860 (GRCm39) |
|
probably benign |
Het |
| Dmgdh |
A |
T |
13: 93,888,831 (GRCm39) |
E823V |
possibly damaging |
Het |
| Dnah2 |
T |
C |
11: 69,339,256 (GRCm39) |
I3078V |
probably damaging |
Het |
| Dpp10 |
A |
C |
1: 123,312,018 (GRCm39) |
Y446D |
probably damaging |
Het |
| Eif2s3y |
T |
C |
Y: 1,017,365 (GRCm39) |
V290A |
probably benign |
Homo |
| Fktn |
G |
A |
4: 53,735,035 (GRCm39) |
W224* |
probably null |
Het |
| Gm37240 |
T |
C |
3: 84,874,905 (GRCm39) |
|
probably benign |
Het |
| Gpr3 |
A |
G |
4: 132,938,489 (GRCm39) |
V61A |
probably damaging |
Het |
| Gulo |
T |
C |
14: 66,237,470 (GRCm39) |
|
probably null |
Het |
| Hax1 |
GTCATCATCATCATCATC |
GTCATCATCATCATCATCATC |
3: 89,905,247 (GRCm39) |
|
probably benign |
Het |
| Hectd4 |
T |
A |
5: 121,462,037 (GRCm39) |
I968K |
possibly damaging |
Het |
| Hmox2 |
G |
T |
16: 4,582,732 (GRCm39) |
R155L |
probably damaging |
Het |
| Ifnlr1 |
C |
A |
4: 135,432,580 (GRCm39) |
Q339K |
probably damaging |
Het |
| Ifnlr1 |
A |
T |
4: 135,432,581 (GRCm39) |
Q339L |
probably damaging |
Het |
| Irf4 |
T |
A |
13: 30,941,741 (GRCm39) |
S365T |
probably benign |
Het |
| Klrb1a |
T |
G |
6: 128,595,472 (GRCm39) |
D124A |
probably damaging |
Het |
| Macf1 |
A |
T |
4: 123,369,832 (GRCm39) |
I78N |
probably damaging |
Het |
| Mctp1 |
G |
T |
13: 76,907,944 (GRCm39) |
|
probably null |
Het |
| Muc21 |
C |
T |
17: 35,934,123 (GRCm39) |
|
probably benign |
Het |
| Mxra8 |
A |
T |
4: 155,927,760 (GRCm39) |
|
probably null |
Het |
| Nlrp2 |
T |
A |
7: 5,327,902 (GRCm39) |
|
probably null |
Het |
| Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
| P2ry13 |
T |
C |
3: 59,116,786 (GRCm39) |
T331A |
probably benign |
Het |
| Padi2 |
G |
A |
4: 140,644,952 (GRCm39) |
R62H |
probably benign |
Het |
| Pcdhb15 |
A |
T |
18: 37,607,707 (GRCm39) |
Q313L |
probably benign |
Het |
| Pcdhga11 |
A |
G |
18: 37,889,045 (GRCm39) |
I18V |
probably benign |
Het |
| Pcdhga11 |
A |
G |
18: 37,891,142 (GRCm39) |
R717G |
probably benign |
Het |
| Pcif1 |
C |
A |
2: 164,726,412 (GRCm39) |
|
probably benign |
Het |
| Pkd1l1 |
T |
C |
11: 8,813,849 (GRCm39) |
T1501A |
probably benign |
Het |
| Plekhg2 |
C |
A |
7: 28,064,027 (GRCm39) |
R473L |
probably damaging |
Het |
| Sec22c |
A |
G |
9: 121,519,368 (GRCm39) |
S83P |
possibly damaging |
Het |
| Sgcz |
T |
A |
8: 37,993,425 (GRCm39) |
Q224L |
possibly damaging |
Het |
| Slc27a1 |
C |
T |
8: 72,036,907 (GRCm39) |
P381L |
probably benign |
Het |
| Slc8a1 |
T |
A |
17: 81,955,431 (GRCm39) |
I536F |
probably damaging |
Het |
| Src |
T |
A |
2: 157,307,950 (GRCm39) |
|
probably null |
Het |
| Sybu |
T |
A |
15: 44,651,017 (GRCm39) |
T96S |
probably damaging |
Het |
| Tbc1d22a |
T |
C |
15: 86,235,929 (GRCm39) |
Y363H |
probably damaging |
Het |
| Tdrd6 |
T |
C |
17: 43,939,302 (GRCm39) |
E582G |
possibly damaging |
Het |
| Tmem131 |
C |
A |
1: 36,858,209 (GRCm39) |
V713L |
probably benign |
Het |
| Tnfsf13b |
T |
A |
8: 10,056,988 (GRCm39) |
L49Q |
probably damaging |
Het |
| Trem2 |
T |
A |
17: 48,653,661 (GRCm39) |
|
probably benign |
Het |
| Tspyl3 |
T |
A |
2: 153,066,636 (GRCm39) |
M201L |
probably benign |
Het |
| Ttl |
A |
G |
2: 128,917,961 (GRCm39) |
D141G |
probably benign |
Het |
| Ube2z |
A |
G |
11: 95,951,889 (GRCm39) |
V153A |
possibly damaging |
Het |
| Ubr3 |
A |
G |
2: 69,851,559 (GRCm39) |
Y1842C |
probably damaging |
Het |
| Usp33 |
T |
C |
3: 152,086,229 (GRCm39) |
V656A |
probably damaging |
Het |
| Vmn2r74 |
G |
A |
7: 85,601,098 (GRCm39) |
R847C |
probably damaging |
Het |
| Vmo1 |
A |
T |
11: 70,405,241 (GRCm39) |
V63D |
probably damaging |
Het |
| Zcwpw1 |
T |
A |
5: 137,798,269 (GRCm39) |
D155E |
probably benign |
Het |
| Zeb1 |
T |
G |
18: 5,766,765 (GRCm39) |
S425R |
possibly 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 |
|
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'- CTAAAGCCGAGAGATCCCAG -3'
(R):5'- GGTAAGCCCACTACATACCCTG -3'
Sequencing Primer
(F):5'- AGAAACACCCTCCCTTCATAGTCTTC -3'
(R):5'- CTTCTGTAGATGATCCTAGAACTCAG -3'
|
| Posted On |
2017-02-28 |
Incidental Mutation