Incidental Mutation 'R7048:Plekha7'
ID |
547439 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Plekha7
|
Ensembl Gene |
ENSMUSG00000045659 |
Gene Name |
pleckstrin homology domain containing, family A member 7 |
Synonyms |
A430081P20Rik |
MMRRC Submission |
045146-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.406)
|
Stock # |
R7048 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
115722720-115907611 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 115747559 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Aspartic acid
at position 710
(N710D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000148936
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084664]
[ENSMUST00000181981]
[ENSMUST00000181998]
[ENSMUST00000182487]
[ENSMUST00000182511]
[ENSMUST00000183281]
[ENSMUST00000182834]
[ENSMUST00000216517]
|
AlphaFold |
Q3UIL6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000084664
|
SMART Domains |
Protein: ENSMUSP00000081714 Gene: ENSMUSG00000045659
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
|
SMART Domains |
Protein: ENSMUSP00000138766 Gene: ENSMUSG00000045659
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
|
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: ENSMUST00000182443
|
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: ENSMUST00000182511
|
SMART Domains |
Protein: ENSMUSP00000138544 Gene: ENSMUSG00000045659
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 |
probably benign
Transcript: ENSMUST00000183281
AA Change: N63D
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000138126 Gene: ENSMUSG00000045659 AA Change: N63D
Domain | Start | End | E-Value | Type |
coiled coil region
|
117 |
156 |
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 |
probably benign
Transcript: ENSMUST00000216517
AA Change: N710D
PolyPhen 2
Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)
|
Meta Mutation Damage Score |
0.0607 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
Validation Efficiency |
97% (66/68) |
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: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrl2 |
T |
C |
3: 148,552,565 (GRCm39) |
D629G |
probably damaging |
Het |
Akap11 |
T |
A |
14: 78,749,954 (GRCm39) |
Q811L |
|
Het |
Ank2 |
T |
A |
3: 126,819,267 (GRCm39) |
Q468L |
probably benign |
Het |
Ano3 |
A |
T |
2: 110,513,116 (GRCm39) |
Y626* |
probably null |
Het |
Ap1m1 |
A |
G |
8: 73,003,642 (GRCm39) |
N114S |
probably damaging |
Het |
Asb3 |
T |
A |
11: 31,051,121 (GRCm39) |
I525N |
probably damaging |
Het |
Atg4a-ps |
A |
G |
3: 103,552,672 (GRCm39) |
I223T |
probably damaging |
Het |
B3gnt7 |
T |
C |
1: 86,233,308 (GRCm39) |
Y68H |
probably benign |
Het |
Bbs5 |
T |
C |
2: 69,484,705 (GRCm39) |
I125T |
probably benign |
Het |
Cd180 |
A |
G |
13: 102,841,431 (GRCm39) |
N159S |
probably damaging |
Het |
Cd37 |
T |
C |
7: 44,887,888 (GRCm39) |
|
probably benign |
Het |
Cdk14 |
T |
A |
5: 5,143,005 (GRCm39) |
Q242L |
probably damaging |
Het |
Clcn1 |
T |
C |
6: 42,284,477 (GRCm39) |
V605A |
probably damaging |
Het |
Cped1 |
G |
A |
6: 22,119,469 (GRCm39) |
M309I |
probably benign |
Het |
Cyp2r1 |
A |
T |
7: 114,151,971 (GRCm39) |
Y120N |
probably damaging |
Het |
Ddx3y |
A |
T |
Y: 1,279,491 (GRCm39) |
S124R |
probably benign |
Het |
Dlec1 |
A |
T |
9: 118,972,472 (GRCm39) |
|
probably null |
Het |
Dnah17 |
T |
C |
11: 117,936,944 (GRCm39) |
E3420G |
possibly damaging |
Het |
Dnajc13 |
C |
T |
9: 104,080,613 (GRCm39) |
|
probably null |
Het |
Dusp23 |
A |
T |
1: 172,459,253 (GRCm39) |
Y136* |
probably null |
Het |
Eif4b |
A |
G |
15: 102,001,571 (GRCm39) |
|
probably benign |
Het |
F13a1 |
A |
G |
13: 37,082,117 (GRCm39) |
V529A |
probably benign |
Het |
Fhl2 |
A |
G |
1: 43,162,808 (GRCm39) |
Y236H |
probably damaging |
Het |
Gm826 |
C |
T |
2: 160,169,026 (GRCm39) |
W94* |
probably null |
Het |
Gpsm2 |
C |
T |
3: 108,610,361 (GRCm39) |
R33H |
probably damaging |
Het |
Hmcn1 |
T |
C |
1: 150,475,404 (GRCm39) |
|
probably null |
Het |
Ifit1bl2 |
T |
C |
19: 34,596,551 (GRCm39) |
D355G |
probably benign |
Het |
Itga8 |
A |
G |
2: 12,115,895 (GRCm39) |
V77A |
probably damaging |
Het |
Kcmf1 |
C |
T |
6: 72,826,450 (GRCm39) |
R40K |
probably damaging |
Het |
Kdm7a |
T |
C |
6: 39,145,982 (GRCm39) |
E315G |
probably damaging |
Het |
Kmt2b |
C |
T |
7: 30,268,731 (GRCm39) |
G2666D |
probably damaging |
Het |
Lrrtm1 |
A |
G |
6: 77,221,152 (GRCm39) |
N203S |
probably damaging |
Het |
Mdn1 |
A |
G |
4: 32,767,969 (GRCm39) |
N5301D |
probably benign |
Het |
Mest |
T |
G |
6: 30,742,723 (GRCm39) |
H108Q |
probably damaging |
Het |
Mettl25b |
A |
G |
3: 87,837,167 (GRCm39) |
I36T |
probably damaging |
Het |
Moxd1 |
C |
A |
10: 24,157,374 (GRCm39) |
D335E |
probably damaging |
Het |
Ncf2 |
A |
C |
1: 152,683,921 (GRCm39) |
N47H |
probably benign |
Het |
Npc1 |
A |
G |
18: 12,337,822 (GRCm39) |
|
probably null |
Het |
Or14j2 |
A |
T |
17: 37,886,114 (GRCm39) |
S67T |
probably damaging |
Het |
Pcid2 |
A |
G |
8: 13,128,243 (GRCm39) |
V386A |
probably benign |
Het |
Phactr2 |
T |
A |
10: 13,121,168 (GRCm39) |
T444S |
probably benign |
Het |
Ppp1r16b |
C |
T |
2: 158,599,174 (GRCm39) |
T382I |
probably benign |
Het |
Pramel15 |
T |
C |
4: 144,103,754 (GRCm39) |
D124G |
probably benign |
Het |
Ptprz1 |
A |
T |
6: 22,961,622 (GRCm39) |
Y111F |
probably benign |
Het |
Rbbp8 |
A |
G |
18: 11,865,277 (GRCm39) |
E722G |
possibly damaging |
Het |
Rimbp3 |
A |
G |
16: 17,028,190 (GRCm39) |
D538G |
probably benign |
Het |
Rims1 |
A |
G |
1: 22,511,901 (GRCm39) |
S551P |
probably damaging |
Het |
Rsrc1 |
A |
G |
3: 67,088,164 (GRCm39) |
D166G |
probably damaging |
Het |
Selenon |
T |
C |
4: 134,270,154 (GRCm39) |
N350S |
probably benign |
Het |
Sh3gl2 |
T |
A |
4: 85,295,802 (GRCm39) |
L168H |
probably damaging |
Het |
Smc3 |
T |
C |
19: 53,617,682 (GRCm39) |
Y560H |
probably benign |
Het |
Syce1 |
C |
T |
7: 140,359,281 (GRCm39) |
D147N |
possibly damaging |
Het |
Syt10 |
A |
C |
15: 89,675,008 (GRCm39) |
V446G |
probably damaging |
Het |
Taar1 |
T |
C |
10: 23,796,722 (GRCm39) |
L140P |
probably benign |
Het |
Tfpi2 |
C |
A |
6: 3,968,032 (GRCm39) |
C36F |
probably damaging |
Het |
Thoc5 |
G |
A |
11: 4,876,237 (GRCm39) |
|
probably null |
Het |
Tnrc6c |
T |
A |
11: 117,612,800 (GRCm39) |
N319K |
probably benign |
Het |
Trhr2 |
C |
T |
8: 123,085,418 (GRCm39) |
D189N |
probably damaging |
Het |
Trim42 |
A |
T |
9: 97,245,474 (GRCm39) |
F442Y |
probably damaging |
Het |
Ubap2 |
G |
A |
4: 41,196,033 (GRCm39) |
T949I |
possibly damaging |
Het |
Ugt1a8 |
T |
C |
1: 88,016,024 (GRCm39) |
F146L |
probably benign |
Het |
Vmn2r80 |
C |
A |
10: 79,030,153 (GRCm39) |
Q660K |
probably damaging |
Het |
Vstm2b |
C |
T |
7: 40,578,800 (GRCm39) |
T258I |
possibly damaging |
Het |
Washc2 |
T |
C |
6: 116,197,544 (GRCm39) |
L259P |
possibly damaging |
Het |
Zscan18 |
A |
T |
7: 12,508,671 (GRCm39) |
|
probably benign |
Het |
Zzef1 |
T |
G |
11: 72,757,525 (GRCm39) |
Y1193* |
probably null |
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 |
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 |
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'- CCGAAATGACTTGCAGGAAGC -3'
(R):5'- ACTGGTCAGTTCTTCCTTTAGAGG -3'
Sequencing Primer
(F):5'- CGTGGGGCGGTCAGGAG -3'
(R):5'- CTTTAGAGGCGTCCCTAGCTG -3'
|
Posted On |
2019-05-13 |