Incidental Mutation 'R4584:Plekha7'
| ID |
343919 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plekha7
|
| Ensembl Gene |
ENSMUSG00000045659 |
| Gene Name |
pleckstrin homology domain containing, family A member 7 |
| Synonyms |
A430081P20Rik |
| MMRRC Submission |
041805-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.406)
|
| Stock # |
R4584 (G1)
|
| Quality Score |
91 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
115722720-115907611 bp(-) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
C to A
at 115836768 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148936
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000181998]
[ENSMUST00000182487]
[ENSMUST00000182834]
[ENSMUST00000183057]
[ENSMUST00000216517]
|
| AlphaFold |
Q3UIL6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000181998
|
| SMART Domains |
Protein: ENSMUSP00000138575
Gene: ENSMUSG00000045659
| Domain | Start | End | E-Value | Type |
|---|
|
WW
|
9 |
41 |
4.51e-2 |
SMART |
|
WW
|
54 |
86 |
7.79e-6 |
SMART |
|
PH
|
164 |
283 |
1.42e-18 |
SMART |
|
low complexity region
|
336 |
348 |
N/A |
INTRINSIC |
|
low complexity region
|
377 |
390 |
N/A |
INTRINSIC |
|
low complexity region
|
558 |
587 |
N/A |
INTRINSIC |
|
coiled coil region
|
697 |
736 |
N/A |
INTRINSIC |
|
coiled coil region
|
765 |
798 |
N/A |
INTRINSIC |
|
low complexity region
|
913 |
929 |
N/A |
INTRINSIC |
|
coiled coil region
|
1064 |
1092 |
N/A |
INTRINSIC |
|
low complexity region
|
1183 |
1195 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182487
|
| SMART Domains |
Protein: ENSMUSP00000138214
Gene: ENSMUSG00000045659
| Domain | Start | End | E-Value | Type |
|---|
|
WW
|
9 |
41 |
4.51e-2 |
SMART |
|
WW
|
54 |
86 |
7.79e-6 |
SMART |
|
PH
|
164 |
283 |
1.42e-18 |
SMART |
|
low complexity region
|
336 |
348 |
N/A |
INTRINSIC |
|
low complexity region
|
377 |
390 |
N/A |
INTRINSIC |
|
low complexity region
|
558 |
587 |
N/A |
INTRINSIC |
|
coiled coil region
|
697 |
736 |
N/A |
INTRINSIC |
|
coiled coil region
|
765 |
798 |
N/A |
INTRINSIC |
|
low complexity region
|
913 |
929 |
N/A |
INTRINSIC |
|
coiled coil region
|
1064 |
1092 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182834
|
| SMART Domains |
Protein: ENSMUSP00000138257
Gene: ENSMUSG00000045659
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
118 |
237 |
1.42e-18 |
SMART |
|
low complexity region
|
290 |
302 |
N/A |
INTRINSIC |
|
low complexity region
|
331 |
344 |
N/A |
INTRINSIC |
|
low complexity region
|
512 |
541 |
N/A |
INTRINSIC |
|
coiled coil region
|
651 |
690 |
N/A |
INTRINSIC |
|
coiled coil region
|
719 |
752 |
N/A |
INTRINSIC |
|
low complexity region
|
867 |
883 |
N/A |
INTRINSIC |
|
coiled coil region
|
1018 |
1046 |
N/A |
INTRINSIC |
|
low complexity region
|
1137 |
1149 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182890
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183057
|
| SMART Domains |
Protein: ENSMUSP00000138490
Gene: ENSMUSG00000045659
| Domain | Start | End | E-Value | Type |
|---|
|
WW
|
5 |
37 |
7.79e-6 |
SMART |
|
Pfam:PH
|
115 |
174 |
9.1e-10 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183308
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205446
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206662
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216517
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
97% (86/89) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a null allele show decreased susceptibility to bacterial infection. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6430548M08Rik |
A |
G |
8: 120,886,756 (GRCm39) |
N343D |
probably damaging |
Het |
| 9530002B09Rik |
T |
A |
4: 122,594,979 (GRCm39) |
D78E |
possibly damaging |
Het |
| A2m |
C |
A |
6: 121,634,365 (GRCm39) |
D632E |
probably benign |
Het |
| Alpk2 |
A |
G |
18: 65,440,035 (GRCm39) |
S453P |
probably damaging |
Het |
| Birc2 |
A |
T |
9: 7,833,675 (GRCm39) |
F269I |
probably damaging |
Het |
| Ccdc66 |
G |
A |
14: 27,222,468 (GRCm39) |
P92S |
probably benign |
Het |
| Cdc34 |
T |
A |
10: 79,523,869 (GRCm39) |
D108E |
possibly damaging |
Het |
| Cdk5rap2 |
A |
C |
4: 70,184,997 (GRCm39) |
V1151G |
probably damaging |
Het |
| Cemip |
T |
C |
7: 83,607,747 (GRCm39) |
K753R |
probably damaging |
Het |
| Cep295 |
A |
T |
9: 15,246,095 (GRCm39) |
L787Q |
possibly damaging |
Het |
| Cideb |
T |
C |
14: 55,995,727 (GRCm39) |
N8S |
probably benign |
Het |
| Dagla |
A |
G |
19: 10,248,373 (GRCm39) |
Y96H |
probably damaging |
Het |
| Dapl1 |
C |
A |
2: 59,335,086 (GRCm39) |
T80K |
possibly damaging |
Het |
| Ddx6 |
T |
C |
9: 44,535,784 (GRCm39) |
V171A |
probably damaging |
Het |
| Dnah12 |
C |
A |
14: 26,494,551 (GRCm39) |
T34K |
probably damaging |
Het |
| Dnhd1 |
T |
C |
7: 105,327,256 (GRCm39) |
L735P |
probably damaging |
Het |
| Ep400 |
T |
A |
5: 110,881,763 (GRCm39) |
|
probably benign |
Het |
| Erlin1 |
G |
T |
19: 44,057,758 (GRCm39) |
Y22* |
probably null |
Het |
| Gmcl1 |
A |
G |
6: 86,699,605 (GRCm39) |
S141P |
probably damaging |
Het |
| Gtf2a1 |
C |
T |
12: 91,529,700 (GRCm39) |
V338I |
possibly damaging |
Het |
| H2-T15 |
A |
T |
17: 36,368,559 (GRCm39) |
M123K |
probably damaging |
Het |
| Ighv1-66 |
T |
A |
12: 115,557,016 (GRCm39) |
Q22L |
possibly damaging |
Het |
| Igkv4-80 |
T |
C |
6: 68,993,720 (GRCm39) |
Y57C |
probably damaging |
Het |
| Itpk1 |
G |
A |
12: 102,536,416 (GRCm39) |
A410V |
possibly damaging |
Het |
| Itsn1 |
T |
A |
16: 91,617,471 (GRCm39) |
|
probably benign |
Het |
| Kcnk3 |
G |
T |
5: 30,745,730 (GRCm39) |
A24S |
probably damaging |
Het |
| Kif20a |
A |
G |
18: 34,765,664 (GRCm39) |
Y887C |
probably damaging |
Het |
| Klf13 |
T |
C |
7: 63,587,718 (GRCm39) |
T193A |
possibly damaging |
Het |
| Klhl9 |
G |
T |
4: 88,640,144 (GRCm39) |
H32Q |
probably damaging |
Het |
| Kndc1 |
C |
G |
7: 139,481,159 (GRCm39) |
P82A |
probably damaging |
Het |
| Llgl1 |
T |
A |
11: 60,602,908 (GRCm39) |
L861Q |
probably damaging |
Het |
| Lpcat2 |
A |
G |
8: 93,615,999 (GRCm39) |
E305G |
probably damaging |
Het |
| Mib2 |
C |
A |
4: 155,741,744 (GRCm39) |
A293S |
probably damaging |
Het |
| Mtfr1 |
A |
G |
3: 19,269,766 (GRCm39) |
E138G |
probably damaging |
Het |
| Myoz1 |
A |
G |
14: 20,700,663 (GRCm39) |
W185R |
probably damaging |
Het |
| Ninj1 |
T |
A |
13: 49,347,442 (GRCm39) |
|
probably null |
Het |
| Nlgn2 |
A |
T |
11: 69,725,104 (GRCm39) |
V54E |
possibly damaging |
Het |
| Nlrc5 |
A |
C |
8: 95,203,903 (GRCm39) |
I668L |
probably damaging |
Het |
| Npy6r |
T |
A |
18: 44,409,262 (GRCm39) |
C228S |
probably damaging |
Het |
| Nufip2 |
T |
C |
11: 77,632,554 (GRCm39) |
V690A |
unknown |
Het |
| Nup107 |
T |
C |
10: 117,602,273 (GRCm39) |
I513M |
probably benign |
Het |
| Oit3 |
T |
C |
10: 59,261,284 (GRCm39) |
D461G |
probably damaging |
Het |
| Or2ab1 |
T |
A |
11: 58,488,830 (GRCm39) |
F205I |
probably benign |
Het |
| Paxbp1 |
T |
C |
16: 90,831,011 (GRCm39) |
D455G |
probably damaging |
Het |
| Pcdh7 |
A |
T |
5: 57,878,625 (GRCm39) |
T727S |
probably damaging |
Het |
| Pex14 |
G |
A |
4: 149,055,053 (GRCm39) |
A113V |
probably damaging |
Het |
| Phc3 |
A |
G |
3: 31,020,031 (GRCm39) |
V23A |
possibly damaging |
Het |
| Plec |
T |
C |
15: 76,115,406 (GRCm39) |
D56G |
possibly damaging |
Het |
| Prdm16 |
T |
C |
4: 154,422,140 (GRCm39) |
E885G |
probably damaging |
Het |
| Prss1l |
T |
C |
6: 41,373,701 (GRCm39) |
L188P |
probably benign |
Het |
| Psd2 |
A |
G |
18: 36,145,881 (GRCm39) |
T762A |
probably benign |
Het |
| Psme4 |
T |
A |
11: 30,784,318 (GRCm39) |
H964Q |
probably damaging |
Het |
| Rbak |
C |
T |
5: 143,161,878 (GRCm39) |
V51I |
probably benign |
Het |
| Rbfa |
A |
G |
18: 80,243,721 (GRCm39) |
L15P |
probably benign |
Het |
| Ren1 |
T |
C |
1: 133,282,546 (GRCm39) |
Y84H |
probably damaging |
Het |
| Rps6ka5 |
A |
T |
12: 100,547,577 (GRCm39) |
I311N |
probably damaging |
Het |
| Samd14 |
T |
A |
11: 94,912,361 (GRCm39) |
|
probably null |
Het |
| Scaf4 |
T |
C |
16: 90,026,403 (GRCm39) |
|
probably benign |
Het |
| Serpina12 |
A |
T |
12: 104,004,611 (GRCm39) |
L7Q |
unknown |
Het |
| Serpinb9d |
A |
T |
13: 33,384,599 (GRCm39) |
E192V |
probably damaging |
Het |
| Slc22a29 |
A |
T |
19: 8,146,655 (GRCm39) |
F382L |
probably benign |
Het |
| Snta1 |
T |
A |
2: 154,220,035 (GRCm39) |
D375V |
probably benign |
Het |
| Stat5b |
T |
A |
11: 100,678,064 (GRCm39) |
Y683F |
probably damaging |
Het |
| Strip1 |
A |
T |
3: 107,531,819 (GRCm39) |
Y257N |
probably benign |
Het |
| Sugp2 |
A |
G |
8: 70,704,548 (GRCm39) |
H695R |
probably benign |
Het |
| Svep1 |
T |
A |
4: 58,068,526 (GRCm39) |
R3087* |
probably null |
Het |
| Syngr2 |
T |
C |
11: 117,703,947 (GRCm39) |
V138A |
probably damaging |
Het |
| Thra |
T |
C |
11: 98,655,310 (GRCm39) |
F397L |
probably benign |
Het |
| Tmem45b |
T |
A |
9: 31,339,951 (GRCm39) |
I149F |
probably damaging |
Het |
| Tmprss11f |
C |
T |
5: 86,687,553 (GRCm39) |
|
probably null |
Het |
| Ush2a |
C |
T |
1: 188,183,995 (GRCm39) |
T1433I |
probably benign |
Het |
| Vmn2r109 |
A |
T |
17: 20,774,820 (GRCm39) |
Y178* |
probably null |
Het |
| Vmn2r84 |
T |
G |
10: 130,226,582 (GRCm39) |
M419L |
probably benign |
Het |
| Wnk2 |
C |
T |
13: 49,244,313 (GRCm39) |
D508N |
probably damaging |
Het |
| Zfp268 |
T |
A |
4: 145,343,747 (GRCm39) |
|
probably null |
Het |
| Zfp276 |
A |
G |
8: 123,995,145 (GRCm39) |
|
probably benign |
Het |
| Zfp568 |
T |
G |
7: 29,697,617 (GRCm39) |
F100V |
probably benign |
Het |
| Zfp667 |
T |
A |
7: 6,293,624 (GRCm39) |
D41E |
possibly damaging |
Het |
|
| Other mutations in Plekha7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00502:Plekha7
|
APN |
7 |
115,734,419 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01133:Plekha7
|
APN |
7 |
115,744,476 (GRCm39) |
splice site |
probably null |
|
|
IGL01146:Plekha7
|
APN |
7 |
115,756,708 (GRCm39) |
splice site |
probably benign |
|
|
IGL01307:Plekha7
|
APN |
7 |
115,744,479 (GRCm39) |
splice site |
probably benign |
|
|
IGL02063:Plekha7
|
APN |
7 |
115,739,936 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
IGL02110:Plekha7
|
APN |
7 |
115,753,863 (GRCm39) |
splice site |
probably null |
|
|
IGL02420:Plekha7
|
APN |
7 |
115,757,469 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02660:Plekha7
|
APN |
7 |
115,756,809 (GRCm39) |
splice site |
probably benign |
|
|
IGL02851:Plekha7
|
APN |
7 |
115,734,413 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Plexus
|
UTSW |
7 |
115,747,559 (GRCm39) |
missense |
probably benign |
0.07 |
|
R0614_Plekha7_947
|
UTSW |
7 |
115,753,880 (GRCm39) |
nonsense |
probably null |
|
|
R4750_Plekha7_499
|
UTSW |
7 |
115,736,546 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4810_Plekha7_997
|
UTSW |
7 |
115,744,173 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Rhexis
|
UTSW |
7 |
115,736,403 (GRCm39) |
splice site |
probably null |
|
|
R0066:Plekha7
|
UTSW |
7 |
115,756,743 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0066:Plekha7
|
UTSW |
7 |
115,756,743 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0130:Plekha7
|
UTSW |
7 |
115,769,939 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0348:Plekha7
|
UTSW |
7 |
115,757,255 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0595:Plekha7
|
UTSW |
7 |
115,744,203 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0614:Plekha7
|
UTSW |
7 |
115,753,880 (GRCm39) |
nonsense |
probably null |
|
|
R0732:Plekha7
|
UTSW |
7 |
115,744,472 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1664:Plekha7
|
UTSW |
7 |
115,734,269 (GRCm39) |
splice site |
probably null |
|
|
R1695:Plekha7
|
UTSW |
7 |
115,727,920 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1794:Plekha7
|
UTSW |
7 |
115,739,916 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1895:Plekha7
|
UTSW |
7 |
115,744,209 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2153:Plekha7
|
UTSW |
7 |
115,775,002 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3106:Plekha7
|
UTSW |
7 |
115,763,639 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3605:Plekha7
|
UTSW |
7 |
115,763,477 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R3606:Plekha7
|
UTSW |
7 |
115,763,477 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R3789:Plekha7
|
UTSW |
7 |
115,774,969 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4750:Plekha7
|
UTSW |
7 |
115,736,546 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4774:Plekha7
|
UTSW |
7 |
115,744,178 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4810:Plekha7
|
UTSW |
7 |
115,744,173 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4895:Plekha7
|
UTSW |
7 |
115,788,626 (GRCm39) |
splice site |
probably null |
|
|
R4925:Plekha7
|
UTSW |
7 |
115,757,363 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5556:Plekha7
|
UTSW |
7 |
115,763,384 (GRCm39) |
missense |
probably benign |
0.20 |
|
R5599:Plekha7
|
UTSW |
7 |
115,776,117 (GRCm39) |
splice site |
probably null |
|
|
R5848:Plekha7
|
UTSW |
7 |
115,739,634 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5928:Plekha7
|
UTSW |
7 |
115,727,809 (GRCm39) |
missense |
probably benign |
|
|
R5941:Plekha7
|
UTSW |
7 |
115,724,040 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R6351:Plekha7
|
UTSW |
7 |
115,776,133 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6520:Plekha7
|
UTSW |
7 |
115,763,717 (GRCm39) |
missense |
probably benign |
0.16 |
|
R6699:Plekha7
|
UTSW |
7 |
115,734,410 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6781:Plekha7
|
UTSW |
7 |
115,757,090 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6843:Plekha7
|
UTSW |
7 |
115,742,555 (GRCm39) |
missense |
probably benign |
0.45 |
|
R6977:Plekha7
|
UTSW |
7 |
115,735,202 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7048:Plekha7
|
UTSW |
7 |
115,747,559 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7269:Plekha7
|
UTSW |
7 |
115,780,447 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7480:Plekha7
|
UTSW |
7 |
115,736,403 (GRCm39) |
splice site |
probably null |
|
|
R7520:Plekha7
|
UTSW |
7 |
115,736,519 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7609:Plekha7
|
UTSW |
7 |
115,763,681 (GRCm39) |
missense |
probably benign |
0.25 |
|
R7680:Plekha7
|
UTSW |
7 |
115,763,511 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7820:Plekha7
|
UTSW |
7 |
115,836,715 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7989:Plekha7
|
UTSW |
7 |
115,757,558 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8383:Plekha7
|
UTSW |
7 |
115,744,154 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8523:Plekha7
|
UTSW |
7 |
115,907,164 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8863:Plekha7
|
UTSW |
7 |
115,753,875 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8920:Plekha7
|
UTSW |
7 |
115,744,218 (GRCm39) |
missense |
probably benign |
0.13 |
|
R8926:Plekha7
|
UTSW |
7 |
115,756,223 (GRCm39) |
splice site |
probably benign |
|
|
R9176:Plekha7
|
UTSW |
7 |
115,739,926 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9576:Plekha7
|
UTSW |
7 |
115,728,669 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
Z1177:Plekha7
|
UTSW |
7 |
115,907,206 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Plekha7
|
UTSW |
7 |
115,739,898 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGAGACGCGATTCTTAACCC -3'
(R):5'- CTCTGCGAGGAAAGGAATGTGC -3'
Sequencing Primer
(F):5'- GAGACGCGATTCTTAACCCTACTGG -3'
(R):5'- GGAATGTGCCAGTCCGG -3'
|
| Posted On |
2015-09-24 |
Incidental Mutation