Incidental Mutation 'R5556:Plekha7'
| ID |
435391 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plekha7
|
| Ensembl Gene |
ENSMUSG00000045659 |
| Gene Name |
pleckstrin homology domain containing, family A member 7 |
| Synonyms |
A430081P20Rik |
| MMRRC Submission |
043113-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.406)
|
| Stock # |
R5556 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
115722720-115907611 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 115763384 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 406
(T406I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148936
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084664]
[ENSMUST00000181981]
[ENSMUST00000181998]
[ENSMUST00000182487]
[ENSMUST00000182511]
[ENSMUST00000182834]
[ENSMUST00000216517]
|
| AlphaFold |
Q3UIL6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000084664
AA Change: T170I
PolyPhen 2
Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000081714
Gene: ENSMUSG00000045659
AA Change: T170I
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PH
|
1 |
47 |
2e-23 |
BLAST |
|
SCOP:d1kz7a2
|
18 |
69 |
1e-5 |
SMART |
|
low complexity region
|
100 |
112 |
N/A |
INTRINSIC |
|
low complexity region
|
141 |
154 |
N/A |
INTRINSIC |
|
low complexity region
|
322 |
351 |
N/A |
INTRINSIC |
|
coiled coil region
|
461 |
500 |
N/A |
INTRINSIC |
|
coiled coil region
|
529 |
562 |
N/A |
INTRINSIC |
|
low complexity region
|
677 |
693 |
N/A |
INTRINSIC |
|
coiled coil region
|
828 |
856 |
N/A |
INTRINSIC |
|
low complexity region
|
947 |
959 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000181981
AA Change: T301I
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000138766
Gene: ENSMUSG00000045659
AA Change: T301I
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
59 |
178 |
1.42e-18 |
SMART |
|
low complexity region
|
231 |
243 |
N/A |
INTRINSIC |
|
low complexity region
|
272 |
285 |
N/A |
INTRINSIC |
|
low complexity region
|
453 |
482 |
N/A |
INTRINSIC |
|
coiled coil region
|
592 |
631 |
N/A |
INTRINSIC |
|
coiled coil region
|
660 |
693 |
N/A |
INTRINSIC |
|
low complexity region
|
808 |
824 |
N/A |
INTRINSIC |
|
coiled coil region
|
959 |
987 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000181998
AA Change: T406I
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000138575
Gene: ENSMUSG00000045659
AA Change: T406I
| 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 |
unknown
Transcript: ENSMUST00000182443
AA Change: T324I
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182487
AA Change: T406I
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000138214
Gene: ENSMUSG00000045659
AA Change: T406I
| 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: ENSMUST00000182511
AA Change: T344I
PolyPhen 2
Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000138544
Gene: ENSMUSG00000045659
AA Change: T344I
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
102 |
221 |
1.42e-18 |
SMART |
|
low complexity region
|
274 |
286 |
N/A |
INTRINSIC |
|
low complexity region
|
315 |
328 |
N/A |
INTRINSIC |
|
low complexity region
|
496 |
525 |
N/A |
INTRINSIC |
|
coiled coil region
|
635 |
674 |
N/A |
INTRINSIC |
|
coiled coil region
|
703 |
736 |
N/A |
INTRINSIC |
|
low complexity region
|
851 |
867 |
N/A |
INTRINSIC |
|
coiled coil region
|
1002 |
1030 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182549
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183308
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182834
AA Change: T360I
PolyPhen 2
Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000138257
Gene: ENSMUSG00000045659
AA Change: T360I
| 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: ENSMUST00000206097
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216517
AA Change: T406I
PolyPhen 2
Score 0.204 (Sensitivity: 0.92; Specificity: 0.88)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.3%
|
| Validation Efficiency |
|
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933427D14Rik |
T |
A |
11: 72,066,026 (GRCm39) |
|
probably null |
Het |
| Abca13 |
A |
T |
11: 9,208,546 (GRCm39) |
I240F |
possibly damaging |
Het |
| Accs |
A |
G |
2: 93,666,428 (GRCm39) |
Y420H |
probably damaging |
Het |
| Aco2 |
T |
C |
15: 81,773,520 (GRCm39) |
Y20H |
probably damaging |
Het |
| Adck2 |
T |
C |
6: 39,560,869 (GRCm39) |
V419A |
probably benign |
Het |
| Bahd1 |
T |
A |
2: 118,746,751 (GRCm39) |
N123K |
probably damaging |
Het |
| Cast |
A |
G |
13: 74,844,008 (GRCm39) |
|
probably null |
Het |
| Cd164l2 |
T |
A |
4: 132,951,016 (GRCm39) |
V157E |
probably damaging |
Het |
| Cdk11b |
C |
T |
4: 155,718,604 (GRCm39) |
Q185* |
probably null |
Het |
| Ces2g |
T |
C |
8: 105,694,074 (GRCm39) |
F470S |
probably benign |
Het |
| Cherp |
C |
G |
8: 73,221,824 (GRCm39) |
Q313H |
probably damaging |
Het |
| Chrna4 |
A |
G |
2: 180,675,773 (GRCm39) |
V110A |
possibly damaging |
Het |
| Cndp2 |
A |
G |
18: 84,690,249 (GRCm39) |
V231A |
probably benign |
Het |
| Cst7 |
A |
T |
2: 150,412,488 (GRCm39) |
H17L |
probably benign |
Het |
| Decr1 |
C |
T |
4: 15,919,244 (GRCm39) |
D300N |
probably damaging |
Het |
| Dennd4b |
G |
A |
3: 90,175,675 (GRCm39) |
R148Q |
probably damaging |
Het |
| Dgkb |
T |
G |
12: 38,177,363 (GRCm39) |
V230G |
probably damaging |
Het |
| Dis3l2 |
T |
C |
1: 86,901,126 (GRCm39) |
V439A |
possibly damaging |
Het |
| Disp3 |
C |
T |
4: 148,342,614 (GRCm39) |
G612D |
probably benign |
Het |
| Dock7 |
T |
C |
4: 98,832,972 (GRCm39) |
T1962A |
probably damaging |
Het |
| Entrep2 |
A |
G |
7: 64,505,957 (GRCm39) |
F96S |
probably damaging |
Het |
| Fibp |
T |
A |
19: 5,514,227 (GRCm39) |
V304E |
possibly damaging |
Het |
| Flt3 |
T |
A |
5: 147,269,807 (GRCm39) |
|
probably null |
Het |
| Kifc3 |
G |
A |
8: 95,835,087 (GRCm39) |
Q233* |
probably null |
Het |
| Klhl42 |
C |
A |
6: 147,009,610 (GRCm39) |
S483Y |
probably benign |
Het |
| Map3k19 |
G |
A |
1: 127,762,284 (GRCm39) |
R276* |
probably null |
Het |
| Mecom |
A |
G |
3: 30,292,249 (GRCm39) |
S87P |
probably damaging |
Het |
| Med13 |
A |
G |
11: 86,218,664 (GRCm39) |
V416A |
probably benign |
Het |
| Mepe |
G |
A |
5: 104,486,078 (GRCm39) |
G406D |
probably damaging |
Het |
| Met |
T |
G |
6: 17,534,175 (GRCm39) |
L673V |
probably benign |
Het |
| Mlh3 |
A |
T |
12: 85,315,267 (GRCm39) |
Y306* |
probably null |
Het |
| Nrxn2 |
C |
A |
19: 6,540,121 (GRCm39) |
A814E |
probably damaging |
Het |
| Nsmaf |
C |
T |
4: 6,398,621 (GRCm39) |
V828I |
probably benign |
Het |
| Or2j3 |
T |
A |
17: 38,615,964 (GRCm39) |
K129N |
possibly damaging |
Het |
| Or9r7 |
A |
T |
10: 129,962,728 (GRCm39) |
L66H |
probably damaging |
Het |
| Panx1 |
A |
G |
9: 14,918,929 (GRCm39) |
I310T |
possibly damaging |
Het |
| Pcare |
T |
C |
17: 72,059,420 (GRCm39) |
K86E |
possibly damaging |
Het |
| Pcdhb6 |
T |
A |
18: 37,467,442 (GRCm39) |
L121Q |
probably damaging |
Het |
| Prtg |
T |
C |
9: 72,758,986 (GRCm39) |
S447P |
probably damaging |
Het |
| Ptprr |
A |
G |
10: 116,087,054 (GRCm39) |
Y267C |
probably damaging |
Het |
| Rbpjl |
A |
G |
2: 164,249,982 (GRCm39) |
T134A |
probably benign |
Het |
| Relch |
C |
A |
1: 105,620,892 (GRCm39) |
Q456K |
probably benign |
Het |
| Rpe |
C |
A |
1: 66,745,625 (GRCm39) |
T55N |
probably damaging |
Het |
| Scn1a |
T |
C |
2: 66,155,141 (GRCm39) |
D606G |
probably benign |
Het |
| Setd5 |
T |
A |
6: 113,124,463 (GRCm39) |
N1105K |
probably benign |
Het |
| Sh3d21 |
T |
C |
4: 126,056,029 (GRCm39) |
N126D |
possibly damaging |
Het |
| Shank1 |
A |
G |
7: 43,993,739 (GRCm39) |
|
probably benign |
Het |
| Srgap3 |
T |
A |
6: 112,716,039 (GRCm39) |
D627V |
probably damaging |
Het |
| Tacc2 |
T |
A |
7: 130,276,336 (GRCm39) |
S1796T |
probably damaging |
Het |
| Tmco3 |
G |
A |
8: 13,344,870 (GRCm39) |
V217I |
probably damaging |
Het |
| Trgc4 |
A |
T |
13: 19,536,477 (GRCm39) |
R178S |
unknown |
Het |
| Tspan10 |
A |
T |
11: 120,335,541 (GRCm39) |
Y217F |
possibly damaging |
Het |
| Usp3 |
G |
A |
9: 66,451,303 (GRCm39) |
T153M |
possibly damaging |
Het |
| Xdh |
G |
T |
17: 74,204,759 (GRCm39) |
T1067K |
probably benign |
Het |
| Zfp334 |
T |
C |
2: 165,222,504 (GRCm39) |
D513G |
probably benign |
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 |
|
R4584:Plekha7
|
UTSW |
7 |
115,836,768 (GRCm39) |
intron |
probably benign |
|
|
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 |
|
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'- AGGTTATTCACATAGAGGTAGAGCG -3'
(R):5'- TGCTCAAAGAGACCCACTGG -3'
Sequencing Primer
(F):5'- CGGTTAATTAGCTGAGCAGGTAC -3'
(R):5'- CCACTGGAGGGCAGGAG -3'
|
| Posted On |
2016-10-24 |
Incidental Mutation