Incidental Mutation 'R6430:Plekhn1'
| ID |
518475 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plekhn1
|
| Ensembl Gene |
ENSMUSG00000078485 |
| Gene Name |
pleckstrin homology domain containing, family N member 1 |
| Synonyms |
|
| MMRRC Submission |
044568-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.117)
|
| Stock # |
R6430 (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 156306261 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 603
(E603G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151799
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105571]
[ENSMUST00000105572]
[ENSMUST00000217885]
[ENSMUST00000218699]
|
| AlphaFold |
Q8C886 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105571
AA Change: E604G
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000101196
Gene: ENSMUSG00000078485
AA Change: E604G
| 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: E603G
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218699
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219227
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.7%
|
| Validation Efficiency |
100% (47/47) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AI661453 |
C |
A |
17: 47,777,722 (GRCm39) |
|
probably benign |
Het |
| Ank1 |
T |
A |
8: 23,622,125 (GRCm39) |
L1513Q |
probably damaging |
Het |
| Ap2a1 |
C |
A |
7: 44,553,253 (GRCm39) |
V676L |
probably benign |
Het |
| Arid2 |
T |
C |
15: 96,261,575 (GRCm39) |
V477A |
probably benign |
Het |
| Auh |
C |
A |
13: 53,083,446 (GRCm39) |
G17C |
probably benign |
Het |
| B3gnt7 |
T |
C |
1: 86,233,839 (GRCm39) |
F362L |
possibly damaging |
Het |
| Cd207 |
C |
T |
6: 83,652,869 (GRCm39) |
R87H |
probably benign |
Het |
| Cdyl |
A |
G |
13: 36,055,589 (GRCm39) |
K503R |
possibly damaging |
Het |
| Cep350 |
A |
G |
1: 155,770,419 (GRCm39) |
S1824P |
probably damaging |
Het |
| Cmas |
T |
A |
6: 142,713,650 (GRCm39) |
M225K |
probably benign |
Het |
| Dhx29 |
T |
C |
13: 113,081,153 (GRCm39) |
S396P |
possibly damaging |
Het |
| Epg5 |
T |
C |
18: 78,019,100 (GRCm39) |
S958P |
probably damaging |
Het |
| Espnl |
T |
C |
1: 91,249,970 (GRCm39) |
L39P |
possibly damaging |
Het |
| Fcsk |
A |
G |
8: 111,610,748 (GRCm39) |
V915A |
probably benign |
Het |
| Flacc1 |
T |
A |
1: 58,717,448 (GRCm39) |
K154N |
probably damaging |
Het |
| Gatb |
A |
G |
3: 85,544,345 (GRCm39) |
N438D |
probably benign |
Het |
| Hspg2 |
T |
C |
4: 137,266,707 (GRCm39) |
C1932R |
probably damaging |
Het |
| Jmjd1c |
C |
T |
10: 67,059,939 (GRCm39) |
T662I |
possibly damaging |
Het |
| Kcng4 |
A |
G |
8: 120,359,789 (GRCm39) |
S196P |
probably damaging |
Het |
| Kcnh7 |
T |
G |
2: 62,680,876 (GRCm39) |
H237P |
probably benign |
Het |
| Klhl38 |
T |
C |
15: 58,185,707 (GRCm39) |
T341A |
probably benign |
Het |
| Klra9 |
G |
T |
6: 130,155,995 (GRCm39) |
Y253* |
probably null |
Het |
| Man2c1 |
T |
C |
9: 57,038,517 (GRCm39) |
V59A |
possibly damaging |
Het |
| Nr2c1 |
A |
T |
10: 94,031,203 (GRCm39) |
H588L |
possibly damaging |
Het |
| Or14a259 |
A |
T |
7: 86,013,181 (GRCm39) |
Y121* |
probably null |
Het |
| Or2j3 |
T |
C |
17: 38,616,249 (GRCm39) |
I34M |
probably benign |
Het |
| Osbpl6 |
A |
G |
2: 76,409,620 (GRCm39) |
E494G |
probably damaging |
Het |
| Per1 |
T |
C |
11: 68,995,122 (GRCm39) |
L638S |
probably damaging |
Het |
| Prss12 |
A |
T |
3: 123,273,243 (GRCm39) |
S280C |
probably damaging |
Het |
| Pudp |
A |
G |
18: 50,701,307 (GRCm39) |
I142T |
probably benign |
Het |
| Rabl6 |
A |
T |
2: 25,474,849 (GRCm39) |
N620K |
probably damaging |
Het |
| Rttn |
T |
A |
18: 89,039,809 (GRCm39) |
C837S |
probably null |
Het |
| Slc16a7 |
A |
G |
10: 125,066,887 (GRCm39) |
S251P |
probably damaging |
Het |
| Slc7a10 |
A |
G |
7: 34,897,083 (GRCm39) |
I195V |
probably benign |
Het |
| Slc9a4 |
A |
T |
1: 40,640,014 (GRCm39) |
R269* |
probably null |
Het |
| Slco6c1 |
T |
A |
1: 97,003,699 (GRCm39) |
Q466L |
probably benign |
Het |
| Smc6 |
A |
G |
12: 11,359,235 (GRCm39) |
N953S |
probably benign |
Het |
| Tex15 |
T |
C |
8: 34,061,329 (GRCm39) |
V527A |
probably benign |
Het |
| Tln2 |
T |
C |
9: 67,179,947 (GRCm39) |
Y808C |
probably damaging |
Het |
| Tmem145 |
T |
C |
7: 25,008,463 (GRCm39) |
L289P |
possibly damaging |
Het |
| Trim3 |
A |
G |
7: 105,267,212 (GRCm39) |
V389A |
probably benign |
Het |
| Vmn1r3 |
G |
A |
4: 3,184,971 (GRCm39) |
T112I |
probably benign |
Het |
| Vps11 |
C |
A |
9: 44,272,847 (GRCm39) |
A28S |
probably benign |
Het |
| Zbtb41 |
T |
A |
1: 139,374,945 (GRCm39) |
S802T |
probably benign |
Het |
| Zmynd10 |
A |
T |
9: 107,425,911 (GRCm39) |
K82* |
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 |
|
|
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'- ACTGGCTTGTTCCTAGAGTTACC -3'
(R):5'- CCCCAGGTAAGTGGAGATCTTC -3'
Sequencing Primer
(F):5'- GTGCTTCTATCCTCAGAGTCTAGAG -3'
(R):5'- TCTCTCCTGAAGGGAAGGG -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation