Incidental Mutation 'R6723:Plekhn1'
| ID |
529681 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plekhn1
|
| Ensembl Gene |
ENSMUSG00000078485 |
| Gene Name |
pleckstrin homology domain containing, family N member 1 |
| Synonyms |
|
| MMRRC Submission |
044841-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.117)
|
| Stock # |
R6723 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
156305913-156312999 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 156309026 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Cysteine
at position 258
(F258C)
|
| 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: F258C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000101196
Gene: ENSMUSG00000078485
AA Change: F258C
| 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: F258C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000218699
AA Change: F258C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219227
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahnak2 |
A |
G |
12: 112,745,228 (GRCm39) |
S740P |
probably damaging |
Het |
| Akt3 |
A |
T |
1: 176,877,756 (GRCm39) |
Y337* |
probably null |
Het |
| Bcl11a |
C |
A |
11: 24,113,646 (GRCm39) |
P330T |
probably damaging |
Het |
| Cyp2d12 |
A |
T |
15: 82,441,085 (GRCm39) |
I124F |
probably benign |
Het |
| Dhdds |
T |
C |
4: 133,721,576 (GRCm39) |
T74A |
probably damaging |
Het |
| Dio3 |
G |
A |
12: 110,245,991 (GRCm39) |
C109Y |
possibly damaging |
Het |
| Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
| Dock7 |
A |
G |
4: 98,892,153 (GRCm39) |
V811A |
possibly damaging |
Het |
| Efcab3 |
A |
T |
11: 105,007,906 (GRCm39) |
T329S |
possibly damaging |
Het |
| Esp1 |
A |
T |
17: 41,039,747 (GRCm39) |
I11L |
probably benign |
Het |
| Fam13b |
A |
T |
18: 34,631,079 (GRCm39) |
H33Q |
possibly damaging |
Het |
| Fam13c |
G |
A |
10: 70,390,355 (GRCm39) |
D539N |
probably damaging |
Het |
| Fgd5 |
A |
G |
6: 91,965,011 (GRCm39) |
T257A |
probably benign |
Het |
| Gm5134 |
A |
G |
10: 75,844,453 (GRCm39) |
D603G |
probably benign |
Het |
| Gtpbp2 |
T |
C |
17: 46,479,202 (GRCm39) |
V588A |
probably benign |
Het |
| Ift140 |
A |
G |
17: 25,252,090 (GRCm39) |
I312M |
probably benign |
Het |
| Inpp5j |
T |
C |
11: 3,450,640 (GRCm39) |
N571S |
probably damaging |
Het |
| Iqgap1 |
T |
G |
7: 80,373,570 (GRCm39) |
D1473A |
probably benign |
Het |
| Ivl |
T |
G |
3: 92,478,694 (GRCm39) |
K457T |
unknown |
Het |
| Kdm3b |
T |
C |
18: 34,926,058 (GRCm39) |
I66T |
probably damaging |
Het |
| Kif21a |
A |
T |
15: 90,824,649 (GRCm39) |
M1430K |
probably damaging |
Het |
| Klhl25 |
T |
A |
7: 75,515,739 (GRCm39) |
L215Q |
possibly damaging |
Het |
| Lim2 |
T |
A |
7: 43,085,099 (GRCm39) |
M163K |
probably benign |
Het |
| Lrig1 |
T |
C |
6: 94,603,386 (GRCm39) |
D254G |
probably damaging |
Het |
| Mff |
A |
G |
1: 82,729,387 (GRCm39) |
I122V |
possibly damaging |
Het |
| Mrpl15 |
A |
C |
1: 4,852,789 (GRCm39) |
|
probably null |
Het |
| Mylk |
A |
G |
16: 34,750,258 (GRCm39) |
Y1199C |
possibly damaging |
Het |
| Nlrp3 |
G |
A |
11: 59,456,018 (GRCm39) |
C938Y |
probably damaging |
Het |
| Notch1 |
T |
C |
2: 26,368,118 (GRCm39) |
N623D |
probably damaging |
Het |
| Obscn |
T |
G |
11: 58,945,824 (GRCm39) |
E4129A |
probably damaging |
Het |
| Or10a49 |
A |
T |
7: 108,467,795 (GRCm39) |
C189S |
probably damaging |
Het |
| Or4c116 |
G |
T |
2: 88,942,640 (GRCm39) |
T72N |
possibly damaging |
Het |
| Or4d11 |
A |
G |
19: 12,013,639 (GRCm39) |
S156P |
probably damaging |
Het |
| Or5k1 |
T |
C |
16: 58,617,795 (GRCm39) |
K138R |
probably benign |
Het |
| Or6c65 |
A |
T |
10: 129,604,284 (GRCm39) |
L306F |
probably benign |
Het |
| Parm1 |
C |
T |
5: 91,770,856 (GRCm39) |
P291S |
probably damaging |
Het |
| Pcsk1 |
T |
A |
13: 75,241,188 (GRCm39) |
|
probably null |
Het |
| Pgap6 |
C |
A |
17: 26,339,610 (GRCm39) |
T616N |
probably damaging |
Het |
| Pi4ka |
A |
G |
16: 17,194,846 (GRCm39) |
L184P |
possibly damaging |
Het |
| Piezo1 |
T |
G |
8: 123,234,366 (GRCm39) |
Q93H |
probably benign |
Het |
| Pkd2l2 |
A |
T |
18: 34,571,210 (GRCm39) |
Y575F |
probably damaging |
Het |
| Pole |
C |
T |
5: 110,471,482 (GRCm39) |
H1409Y |
probably benign |
Het |
| Rae1 |
T |
C |
2: 172,854,041 (GRCm39) |
I273T |
probably damaging |
Het |
| Rag1 |
A |
G |
2: 101,473,990 (GRCm39) |
V384A |
probably damaging |
Het |
| Rnaseh1 |
T |
C |
12: 28,699,761 (GRCm39) |
L25P |
probably damaging |
Het |
| Serpinb12 |
A |
G |
1: 106,876,888 (GRCm39) |
H68R |
probably benign |
Het |
| Sh3tc2 |
A |
T |
18: 62,111,025 (GRCm39) |
I294F |
probably damaging |
Het |
| Sirpb1b |
A |
C |
3: 15,613,858 (GRCm39) |
L75V |
possibly damaging |
Het |
| Slc12a6 |
A |
T |
2: 112,168,287 (GRCm39) |
T277S |
probably damaging |
Het |
| Slc7a12 |
A |
T |
3: 14,564,257 (GRCm39) |
E43D |
probably benign |
Het |
| Spata31d1c |
T |
A |
13: 65,183,758 (GRCm39) |
D433E |
probably benign |
Het |
| Spata31h1 |
T |
C |
10: 82,125,657 (GRCm39) |
Y2451C |
possibly damaging |
Het |
| Tbl2 |
A |
T |
5: 135,188,130 (GRCm39) |
Y308F |
probably damaging |
Het |
| Tfec |
T |
C |
6: 16,835,301 (GRCm39) |
Y159C |
probably damaging |
Het |
| Top1mt |
G |
T |
15: 75,539,282 (GRCm39) |
T371K |
probably benign |
Het |
| Trim24 |
T |
C |
6: 37,928,403 (GRCm39) |
V541A |
probably benign |
Het |
| Ttc16 |
T |
C |
2: 32,658,049 (GRCm39) |
Y456C |
possibly damaging |
Het |
| Ttn |
G |
A |
2: 76,600,441 (GRCm39) |
R17204* |
probably null |
Het |
| Ugt1a6b |
T |
C |
1: 88,035,439 (GRCm39) |
V259A |
probably benign |
Het |
| Unc5a |
T |
C |
13: 55,143,702 (GRCm39) |
W129R |
probably benign |
Het |
| Vmn1r63 |
T |
A |
7: 5,805,948 (GRCm39) |
H228L |
probably damaging |
Het |
| Whamm |
G |
T |
7: 81,245,868 (GRCm39) |
V775F |
probably damaging |
Het |
| Zfc3h1 |
T |
A |
10: 115,256,638 (GRCm39) |
I1536N |
probably benign |
Het |
| Zfp1 |
T |
C |
8: 112,396,971 (GRCm39) |
S317P |
probably damaging |
Het |
| Zfp58 |
T |
C |
13: 67,642,192 (GRCm39) |
T52A |
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 |
|
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'- TTAGAGGGTGGAGACTCCTG -3'
(R):5'- TCTGTGCCTCAAGGGTCAAG -3'
Sequencing Primer
(F):5'- TGGAGACTCCTGCTCTGTGC -3'
(R):5'- CAAGGGTCAAGCTGCAGCATC -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation