Incidental Mutation 'R4515:Plekhn1'
| ID |
332840 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plekhn1
|
| Ensembl Gene |
ENSMUSG00000078485 |
| Gene Name |
pleckstrin homology domain containing, family N member 1 |
| Synonyms |
|
| MMRRC Submission |
041589-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.117)
|
| Stock # |
R4515 (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 156309988 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 109
(S109G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151799
(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: S109G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000101196
Gene: ENSMUSG00000078485
AA Change: S109G
| 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: S109G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000218699
AA Change: S109G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219227
|
| Meta Mutation Damage Score |
0.2474 |
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.7%
- 10x: 97.1%
- 20x: 94.6%
|
| Validation Efficiency |
96% (65/68) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A430033K04Rik |
G |
T |
5: 138,646,006 (GRCm39) |
K630N |
probably damaging |
Het |
| Acss2 |
C |
A |
2: 155,398,283 (GRCm39) |
L335I |
probably benign |
Het |
| Alg6 |
A |
T |
4: 99,641,023 (GRCm39) |
|
probably benign |
Het |
| Atp8b3 |
C |
T |
10: 80,359,681 (GRCm39) |
M984I |
probably benign |
Het |
| Bsn |
G |
T |
9: 107,981,277 (GRCm39) |
|
probably null |
Het |
| Ccdc88a |
T |
C |
11: 29,432,651 (GRCm39) |
I1219T |
probably benign |
Het |
| Cdhr4 |
G |
A |
9: 107,870,150 (GRCm39) |
E52K |
probably benign |
Het |
| Ces1a |
T |
A |
8: 93,747,532 (GRCm39) |
N500Y |
probably damaging |
Het |
| Chd3 |
G |
T |
11: 69,240,703 (GRCm39) |
R1579S |
probably benign |
Het |
| Chrnb3 |
T |
C |
8: 27,875,118 (GRCm39) |
L39P |
probably damaging |
Het |
| Ckm |
A |
G |
7: 19,154,209 (GRCm39) |
K319E |
probably damaging |
Het |
| Cnot6 |
C |
T |
11: 49,593,363 (GRCm39) |
|
probably null |
Het |
| Copg1 |
A |
G |
6: 87,884,528 (GRCm39) |
|
probably benign |
Het |
| Dbn1 |
A |
T |
13: 55,624,042 (GRCm39) |
I350N |
possibly damaging |
Het |
| Dnah2 |
A |
G |
11: 69,356,457 (GRCm39) |
S2135P |
possibly damaging |
Het |
| Dsg2 |
C |
A |
18: 20,734,444 (GRCm39) |
D807E |
probably benign |
Het |
| Foxi1 |
A |
G |
11: 34,157,972 (GRCm39) |
F18L |
probably damaging |
Het |
| Galnt3 |
C |
A |
2: 65,923,954 (GRCm39) |
R438L |
probably damaging |
Het |
| Glod4 |
T |
A |
11: 76,134,397 (GRCm39) |
D25V |
probably damaging |
Het |
| Golga4 |
T |
A |
9: 118,388,076 (GRCm39) |
S1733T |
probably benign |
Het |
| H2-M10.3 |
C |
T |
17: 36,678,722 (GRCm39) |
|
probably null |
Het |
| Hemgn |
T |
C |
4: 46,396,477 (GRCm39) |
E253G |
probably damaging |
Het |
| Itsn1 |
G |
A |
16: 91,696,537 (GRCm39) |
V47M |
probably damaging |
Het |
| Kif5b |
A |
G |
18: 6,208,257 (GRCm39) |
V947A |
probably benign |
Het |
| Kif9 |
A |
G |
9: 110,318,935 (GRCm39) |
H133R |
probably benign |
Het |
| Lce1l |
T |
C |
3: 92,757,781 (GRCm39) |
T26A |
unknown |
Het |
| Macf1 |
T |
C |
4: 123,387,781 (GRCm39) |
E1172G |
probably damaging |
Het |
| Nkx3-2 |
C |
T |
5: 41,921,281 (GRCm39) |
V3M |
probably damaging |
Het |
| Nr2e1 |
G |
A |
10: 42,454,187 (GRCm39) |
T49I |
probably benign |
Het |
| Oc90 |
A |
G |
15: 65,764,242 (GRCm39) |
L138P |
probably damaging |
Het |
| Or7g12 |
T |
G |
9: 18,899,278 (GRCm39) |
|
probably null |
Het |
| Or8g34 |
C |
T |
9: 39,373,527 (GRCm39) |
R264* |
probably null |
Het |
| Orc4 |
G |
A |
2: 48,827,501 (GRCm39) |
P31S |
probably benign |
Het |
| Pabir3 |
G |
A |
X: 52,382,376 (GRCm39) |
R94H |
possibly damaging |
Het |
| Paqr3 |
T |
A |
5: 97,251,220 (GRCm39) |
N168I |
possibly damaging |
Het |
| Pcdhac1 |
T |
A |
18: 37,224,432 (GRCm39) |
I415N |
probably damaging |
Het |
| Pdik1l |
T |
C |
4: 134,006,207 (GRCm39) |
N75S |
probably damaging |
Het |
| Pik3r4 |
A |
G |
9: 105,549,924 (GRCm39) |
H1005R |
probably damaging |
Het |
| Prkch |
A |
G |
12: 73,749,612 (GRCm39) |
T402A |
possibly damaging |
Het |
| Ptger4 |
C |
A |
15: 5,271,860 (GRCm39) |
R253L |
probably damaging |
Het |
| Rabac1 |
A |
T |
7: 24,669,585 (GRCm39) |
Y173* |
probably null |
Het |
| Rapsn |
G |
A |
2: 90,873,557 (GRCm39) |
V288M |
possibly damaging |
Het |
| Rnf26rt |
C |
T |
6: 76,473,792 (GRCm39) |
V275I |
probably benign |
Het |
| Sec31a |
A |
G |
5: 100,513,817 (GRCm39) |
S993P |
probably damaging |
Het |
| Septin4 |
A |
G |
11: 87,458,883 (GRCm39) |
H419R |
probably benign |
Het |
| Serpina9 |
T |
A |
12: 103,967,553 (GRCm39) |
M281L |
probably benign |
Het |
| Serpine1 |
G |
A |
5: 137,098,322 (GRCm39) |
A117V |
probably damaging |
Het |
| Sh3tc2 |
A |
G |
18: 62,120,764 (GRCm39) |
|
probably null |
Het |
| Sipa1l2 |
T |
C |
8: 126,218,965 (GRCm39) |
D124G |
probably benign |
Het |
| Slc6a12 |
T |
A |
6: 121,330,489 (GRCm39) |
|
probably null |
Het |
| Stk11 |
A |
G |
10: 79,952,435 (GRCm39) |
|
probably benign |
Het |
| Tcaf3 |
A |
G |
6: 42,566,930 (GRCm39) |
Y720H |
probably damaging |
Het |
| Tmem38a |
C |
T |
8: 73,326,005 (GRCm39) |
P20S |
possibly damaging |
Het |
| Tmprss11a |
C |
T |
5: 86,568,055 (GRCm39) |
R224K |
probably damaging |
Het |
| Tmprss15 |
C |
T |
16: 78,754,244 (GRCm39) |
S988N |
probably benign |
Het |
| Txn2 |
A |
T |
15: 77,799,643 (GRCm39) |
|
probably null |
Het |
| Ugt1a10 |
T |
A |
1: 87,983,919 (GRCm39) |
V239E |
probably damaging |
Het |
| Vmn2r102 |
A |
G |
17: 19,901,475 (GRCm39) |
Y534C |
probably damaging |
Het |
| Vmn2r78 |
A |
T |
7: 86,603,466 (GRCm39) |
D548V |
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 |
|
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'- TGCCACTCACCTGGAATGTAAG -3'
(R):5'- CAGAAGCTGTGTGTATATCGCTTG -3'
Sequencing Primer
(F):5'- TGTAAGTCCCTCAGAACCATGGG -3'
(R):5'- ATATCGCTTGGGGATCCGGC -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation