Incidental Mutation 'IGL02110:Plekha7'
ID |
280106 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Plekha7
|
Ensembl Gene |
ENSMUSG00000045659 |
Gene Name |
pleckstrin homology domain containing, family A member 7 |
Synonyms |
A430081P20Rik |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.406)
|
Stock # |
IGL02110
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
115722720-115907611 bp(-) (GRCm39) |
Type of Mutation |
splice site (5 bp from exon) |
DNA Base Change (assembly) |
C to A
at 115753863 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000148936
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084664]
[ENSMUST00000181981]
[ENSMUST00000181998]
[ENSMUST00000182487]
[ENSMUST00000182511]
[ENSMUST00000182834]
[ENSMUST00000183281]
[ENSMUST00000216517]
|
AlphaFold |
Q3UIL6 |
Predicted Effect |
probably null
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 null
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 null
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 null
Transcript: ENSMUST00000182443
|
Predicted Effect |
probably null
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 null
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 null
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 null
Transcript: ENSMUST00000183281
|
SMART Domains |
Protein: ENSMUSP00000138126 Gene: ENSMUSG00000045659
Domain | Start | End | E-Value | Type |
coiled coil region
|
117 |
156 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183308
|
Predicted Effect |
probably null
Transcript: ENSMUST00000216517
|
Coding Region Coverage |
|
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Apol7e |
A |
G |
15: 77,598,548 (GRCm39) |
|
probably null |
Het |
Arhgef40 |
C |
T |
14: 52,226,862 (GRCm39) |
T302M |
probably damaging |
Het |
Bap1 |
T |
C |
14: 30,979,371 (GRCm39) |
L458P |
probably damaging |
Het |
Bbs12 |
A |
G |
3: 37,373,336 (GRCm39) |
E43G |
probably benign |
Het |
Bod1l |
C |
T |
5: 41,973,796 (GRCm39) |
C2506Y |
probably damaging |
Het |
Ccdc170 |
A |
G |
10: 4,491,885 (GRCm39) |
|
probably null |
Het |
Chpf2 |
A |
G |
5: 24,796,710 (GRCm39) |
E552G |
probably damaging |
Het |
Comp |
T |
A |
8: 70,826,289 (GRCm39) |
I23N |
probably benign |
Het |
Cxcl2 |
T |
C |
5: 91,052,211 (GRCm39) |
|
probably benign |
Het |
Dctn5 |
T |
C |
7: 121,734,374 (GRCm39) |
F73L |
probably damaging |
Het |
Ddx5 |
T |
C |
11: 106,675,835 (GRCm39) |
E285G |
probably damaging |
Het |
Ddx60 |
T |
G |
8: 62,470,281 (GRCm39) |
|
probably null |
Het |
Dhcr24 |
T |
A |
4: 106,430,998 (GRCm39) |
I229N |
probably damaging |
Het |
Dnah7a |
G |
A |
1: 53,450,739 (GRCm39) |
T3897I |
possibly damaging |
Het |
Dvl2 |
T |
A |
11: 69,898,842 (GRCm39) |
|
probably benign |
Het |
Dytn |
A |
T |
1: 63,686,632 (GRCm39) |
V346E |
possibly damaging |
Het |
Eepd1 |
T |
C |
9: 25,514,698 (GRCm39) |
|
probably benign |
Het |
Fbln2 |
G |
T |
6: 91,211,084 (GRCm39) |
A343S |
probably benign |
Het |
Flywch1 |
T |
C |
17: 23,982,066 (GRCm39) |
|
probably null |
Het |
Gckr |
A |
T |
5: 31,456,082 (GRCm39) |
T81S |
possibly damaging |
Het |
Gm6139 |
T |
A |
5: 129,700,656 (GRCm39) |
|
noncoding transcript |
Het |
Gpcpd1 |
A |
T |
2: 132,372,530 (GRCm39) |
C657* |
probably null |
Het |
Greb1l |
A |
G |
18: 10,515,271 (GRCm39) |
I89V |
probably damaging |
Het |
Hdac4 |
G |
A |
1: 91,912,127 (GRCm39) |
P421S |
probably benign |
Het |
Iqca1l |
A |
G |
5: 24,753,082 (GRCm39) |
|
probably benign |
Het |
Klhl1 |
A |
G |
14: 96,374,039 (GRCm39) |
L669P |
probably benign |
Het |
Mios |
A |
G |
6: 8,215,565 (GRCm39) |
R254G |
probably damaging |
Het |
Mmp19 |
A |
G |
10: 128,630,727 (GRCm39) |
N116D |
probably damaging |
Het |
Muc5b |
T |
A |
7: 141,401,453 (GRCm39) |
C566* |
probably null |
Het |
Nadsyn1 |
T |
C |
7: 143,367,164 (GRCm39) |
Y141C |
probably damaging |
Het |
Nlrp4d |
T |
C |
7: 10,116,491 (GRCm39) |
|
noncoding transcript |
Het |
Nob1 |
A |
T |
8: 108,142,804 (GRCm39) |
*160R |
probably null |
Het |
Or10ac1 |
A |
G |
6: 42,515,113 (GRCm39) |
V281A |
possibly damaging |
Het |
Or1f12 |
T |
A |
13: 21,722,112 (GRCm39) |
Q21L |
possibly damaging |
Het |
Or1j17 |
A |
G |
2: 36,578,697 (GRCm39) |
T228A |
probably benign |
Het |
Or4k45 |
C |
T |
2: 111,395,252 (GRCm39) |
C179Y |
probably damaging |
Het |
Or51s1 |
C |
T |
7: 102,558,402 (GRCm39) |
V215I |
probably benign |
Het |
Or56b1b |
C |
A |
7: 108,164,286 (GRCm39) |
A239S |
probably damaging |
Het |
Phc1 |
T |
C |
6: 122,298,994 (GRCm39) |
D658G |
possibly damaging |
Het |
Pitx2 |
T |
G |
3: 129,012,466 (GRCm39) |
S299A |
probably damaging |
Het |
Ptgfr |
A |
G |
3: 151,541,097 (GRCm39) |
V137A |
probably damaging |
Het |
Ptprb |
T |
C |
10: 116,167,108 (GRCm39) |
|
probably benign |
Het |
Rasl2-9 |
C |
T |
7: 5,128,346 (GRCm39) |
A195T |
probably benign |
Het |
Ripor3 |
T |
A |
2: 167,836,626 (GRCm39) |
Q121L |
possibly damaging |
Het |
Sgsh |
G |
T |
11: 119,243,632 (GRCm39) |
A30E |
probably damaging |
Het |
Sis |
G |
T |
3: 72,836,032 (GRCm39) |
C852* |
probably null |
Het |
Slc17a9 |
A |
G |
2: 180,374,369 (GRCm39) |
|
probably benign |
Het |
Slco6b1 |
A |
T |
1: 96,915,607 (GRCm39) |
|
noncoding transcript |
Het |
Smarca2 |
A |
G |
19: 26,650,140 (GRCm39) |
Y704C |
possibly damaging |
Het |
Spata6 |
A |
T |
4: 111,642,003 (GRCm39) |
H291L |
possibly damaging |
Het |
Stra8 |
T |
C |
6: 34,907,289 (GRCm39) |
|
probably benign |
Het |
Taldo1 |
T |
C |
7: 140,982,647 (GRCm39) |
|
probably benign |
Het |
Tmco6 |
T |
C |
18: 36,868,219 (GRCm39) |
|
probably benign |
Het |
Tmpo |
A |
C |
10: 90,998,727 (GRCm39) |
S353R |
probably damaging |
Het |
Tpr |
A |
T |
1: 150,311,493 (GRCm39) |
Q1757L |
probably damaging |
Het |
Ubn1 |
T |
C |
16: 4,899,754 (GRCm39) |
|
probably benign |
Het |
Vmn2r83 |
T |
C |
10: 79,327,534 (GRCm39) |
V714A |
possibly damaging |
Het |
Zfp407 |
G |
T |
18: 84,577,165 (GRCm39) |
A1316D |
probably benign |
Het |
Zzef1 |
T |
A |
11: 72,803,938 (GRCm39) |
I2560N |
probably 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 |
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 |
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 |
|
Posted On |
2015-04-16 |