Incidental Mutation 'IGL01307:Plekha7'
ID |
73515 |
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 # |
IGL01307
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
115722720-115907611 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to G
at 115744479 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 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: 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: ENSMUST00000183281
|
SMART Domains |
Protein: ENSMUSP00000138126 Gene: ENSMUSG00000045659
Domain | Start | End | E-Value | Type |
coiled coil region
|
117 |
156 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
T |
A |
11: 9,247,159 (GRCm39) |
M2302K |
possibly damaging |
Het |
Actl9 |
A |
G |
17: 33,653,152 (GRCm39) |
E404G |
probably damaging |
Het |
Adamts12 |
A |
T |
15: 11,237,632 (GRCm39) |
I314L |
possibly damaging |
Het |
Card6 |
C |
A |
15: 5,129,484 (GRCm39) |
M637I |
possibly damaging |
Het |
Ccdc122 |
G |
A |
14: 77,329,516 (GRCm39) |
|
probably benign |
Het |
Cdh10 |
A |
G |
15: 18,899,886 (GRCm39) |
D71G |
probably benign |
Het |
Cdk15 |
A |
T |
1: 59,326,955 (GRCm39) |
Y214F |
probably benign |
Het |
Cdon |
A |
G |
9: 35,368,860 (GRCm39) |
K365E |
probably benign |
Het |
Cyp2c37 |
T |
C |
19: 39,981,023 (GRCm39) |
V47A |
probably benign |
Het |
Ddc |
T |
A |
11: 11,789,462 (GRCm39) |
D271V |
probably damaging |
Het |
Dnah6 |
G |
A |
6: 73,042,708 (GRCm39) |
A3290V |
probably damaging |
Het |
Dtl |
A |
T |
1: 191,302,811 (GRCm39) |
S20T |
possibly damaging |
Het |
Egf |
A |
C |
3: 129,533,642 (GRCm39) |
I66S |
probably damaging |
Het |
Eif4a3 |
T |
C |
11: 119,184,387 (GRCm39) |
K268E |
probably damaging |
Het |
Fbxl16 |
A |
T |
17: 26,038,338 (GRCm39) |
|
probably benign |
Het |
Fez2 |
C |
T |
17: 78,689,029 (GRCm39) |
|
probably benign |
Het |
Fras1 |
C |
A |
5: 96,929,551 (GRCm39) |
T3985K |
probably benign |
Het |
Gbp4 |
T |
C |
5: 105,284,887 (GRCm39) |
M1V |
probably null |
Het |
Gpnmb |
A |
G |
6: 49,022,299 (GRCm39) |
D143G |
probably benign |
Het |
Grm5 |
A |
T |
7: 87,724,220 (GRCm39) |
T837S |
probably damaging |
Het |
Hmcn1 |
T |
C |
1: 150,620,752 (GRCm39) |
T1153A |
possibly damaging |
Het |
Hp |
C |
T |
8: 110,302,415 (GRCm39) |
V178I |
probably benign |
Het |
Macf1 |
A |
T |
4: 123,276,922 (GRCm39) |
V4061E |
probably damaging |
Het |
Msto1 |
C |
A |
3: 88,820,993 (GRCm39) |
R34L |
probably benign |
Het |
Mtf2 |
C |
T |
5: 108,254,756 (GRCm39) |
T519M |
probably damaging |
Het |
Myo3a |
T |
A |
2: 22,448,301 (GRCm39) |
N25K |
probably damaging |
Het |
Ncapd2 |
A |
G |
6: 125,145,582 (GRCm39) |
V1355A |
possibly damaging |
Het |
Nhlrc2 |
C |
A |
19: 56,540,231 (GRCm39) |
Y73* |
probably null |
Het |
Nwd2 |
A |
T |
5: 63,965,626 (GRCm39) |
S1737C |
possibly damaging |
Het |
Or1p1 |
T |
A |
11: 74,180,254 (GRCm39) |
C261S |
possibly damaging |
Het |
Osmr |
A |
G |
15: 6,873,908 (GRCm39) |
V163A |
probably damaging |
Het |
Palm3 |
T |
C |
8: 84,756,074 (GRCm39) |
S529P |
possibly damaging |
Het |
Pcnt |
A |
G |
10: 76,247,422 (GRCm39) |
Y1037H |
probably damaging |
Het |
Pkhd1l1 |
T |
C |
15: 44,393,425 (GRCm39) |
I1920T |
possibly damaging |
Het |
Psd |
C |
T |
19: 46,303,097 (GRCm39) |
G762R |
probably damaging |
Het |
Psmb8 |
A |
G |
17: 34,418,210 (GRCm39) |
T51A |
probably benign |
Het |
Rbm12 |
A |
C |
2: 155,937,302 (GRCm39) |
|
probably benign |
Het |
Rictor |
T |
A |
15: 6,804,085 (GRCm39) |
|
probably null |
Het |
Slc24a5 |
G |
A |
2: 124,922,800 (GRCm39) |
G158S |
probably damaging |
Het |
Spata31f1a |
G |
T |
4: 42,850,963 (GRCm39) |
L398I |
probably benign |
Het |
Stag1 |
A |
G |
9: 100,833,841 (GRCm39) |
|
probably benign |
Het |
Tln2 |
A |
G |
9: 67,302,749 (GRCm39) |
M74T |
probably benign |
Het |
Trim24 |
C |
A |
6: 37,942,570 (GRCm39) |
D957E |
possibly damaging |
Het |
Trpa1 |
A |
T |
1: 14,966,771 (GRCm39) |
M531K |
probably benign |
Het |
Ttn |
A |
G |
2: 76,736,637 (GRCm39) |
Y4376H |
possibly damaging |
Het |
Twsg1 |
T |
C |
17: 66,255,646 (GRCm39) |
|
probably benign |
Het |
Usp34 |
T |
A |
11: 23,367,676 (GRCm39) |
V1671E |
probably damaging |
Het |
Vwa5b2 |
A |
G |
16: 20,423,020 (GRCm39) |
D1006G |
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 |
|
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 |
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 |
2013-10-07 |