Incidental Mutation 'R5599:Plekha7'
ID |
438945 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Plekha7
|
Ensembl Gene |
ENSMUSG00000045659 |
Gene Name |
pleckstrin homology domain containing, family A member 7 |
Synonyms |
A430081P20Rik |
MMRRC Submission |
043151-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.406)
|
Stock # |
R5599 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
115722720-115907611 bp(-) (GRCm39) |
Type of Mutation |
splice site (4 bp from exon) |
DNA Base Change (assembly) |
T to A
at 115776117 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000148936
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084664]
[ENSMUST00000181981]
[ENSMUST00000181998]
[ENSMUST00000182487]
[ENSMUST00000182487]
[ENSMUST00000182511]
[ENSMUST00000182834]
[ENSMUST00000183057]
[ENSMUST00000183057]
[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 |
noncoding transcript
Transcript: ENSMUST00000182312
|
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: 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: 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 |
probably null
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: ENSMUST00000182549
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206662
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182693
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205446
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182890
|
Predicted Effect |
probably null
Transcript: ENSMUST00000216517
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.1%
|
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd2 |
T |
A |
7: 78,946,746 (GRCm39) |
|
probably null |
Het |
Agpat3 |
T |
C |
10: 78,110,103 (GRCm39) |
D282G |
probably benign |
Het |
Ankhd1 |
G |
A |
18: 36,693,860 (GRCm39) |
A24T |
probably damaging |
Het |
Cracdl |
T |
C |
1: 37,652,424 (GRCm39) |
N1128D |
possibly damaging |
Het |
Cry1 |
A |
T |
10: 84,980,114 (GRCm39) |
M398K |
probably benign |
Het |
Dpp10 |
A |
G |
1: 123,832,803 (GRCm39) |
I47T |
probably damaging |
Het |
Fpr-rs6 |
C |
T |
17: 20,402,375 (GRCm39) |
D329N |
probably benign |
Het |
Gfm2 |
G |
A |
13: 97,299,659 (GRCm39) |
A406T |
probably damaging |
Het |
Gprc5c |
G |
T |
11: 114,755,093 (GRCm39) |
V257L |
possibly damaging |
Het |
Gxylt1 |
CTCATCCGGGTCAT |
CTCAT |
15: 93,152,198 (GRCm39) |
|
probably benign |
Het |
Hnrnpul1 |
G |
A |
7: 25,454,097 (GRCm39) |
|
probably benign |
Het |
Lbx1 |
T |
A |
19: 45,223,519 (GRCm39) |
S50C |
probably damaging |
Het |
Lims2 |
A |
G |
18: 32,090,324 (GRCm39) |
N183S |
probably benign |
Het |
Lrp1 |
T |
C |
10: 127,429,738 (GRCm39) |
N444S |
probably damaging |
Het |
Mast4 |
A |
T |
13: 102,873,987 (GRCm39) |
C1626S |
probably damaging |
Het |
Mgat5 |
A |
G |
1: 127,325,303 (GRCm39) |
Y390C |
probably damaging |
Het |
Nf2 |
T |
C |
11: 4,732,269 (GRCm39) |
E553G |
probably damaging |
Het |
Nfatc4 |
A |
T |
14: 56,069,733 (GRCm39) |
T704S |
probably benign |
Het |
Or4c3d |
A |
G |
2: 89,882,563 (GRCm39) |
V35A |
probably benign |
Het |
Or56a3 |
T |
C |
7: 104,735,757 (GRCm39) |
|
probably null |
Het |
Or7g29 |
T |
G |
9: 19,286,925 (GRCm39) |
N84T |
possibly damaging |
Het |
Or9m1b |
T |
G |
2: 87,836,349 (GRCm39) |
I258L |
probably benign |
Het |
Polr1a |
T |
C |
6: 71,944,346 (GRCm39) |
M1271T |
possibly damaging |
Het |
Ppip5k2 |
A |
G |
1: 97,668,323 (GRCm39) |
M595T |
probably damaging |
Het |
Ppox |
A |
T |
1: 171,105,033 (GRCm39) |
V412D |
probably damaging |
Het |
Ppp1r12b |
A |
G |
1: 134,793,645 (GRCm39) |
V573A |
probably benign |
Het |
Prkcb |
T |
C |
7: 122,181,701 (GRCm39) |
Y430H |
probably benign |
Het |
Psmd6 |
A |
C |
14: 14,120,144 (GRCm38) |
M65R |
probably benign |
Het |
Rbm12 |
G |
A |
2: 155,938,713 (GRCm39) |
R520* |
probably null |
Het |
Rin3 |
T |
C |
12: 102,356,188 (GRCm39) |
F830L |
probably damaging |
Het |
Sema4b |
A |
G |
7: 79,863,039 (GRCm39) |
K104R |
probably benign |
Het |
Slitrk1 |
T |
C |
14: 109,149,244 (GRCm39) |
D489G |
probably benign |
Het |
Spef2 |
T |
C |
15: 9,729,789 (GRCm39) |
T110A |
possibly damaging |
Het |
Sult2a6 |
T |
A |
7: 13,988,629 (GRCm39) |
K44* |
probably null |
Het |
Tasor |
A |
G |
14: 27,201,886 (GRCm39) |
N1427D |
probably benign |
Het |
Tbc1d2 |
C |
T |
4: 46,629,912 (GRCm39) |
G252R |
probably benign |
Het |
Tcstv2c |
A |
C |
13: 120,616,458 (GRCm39) |
Q99P |
probably damaging |
Het |
Tnxb |
G |
T |
17: 34,909,176 (GRCm39) |
G1445V |
probably damaging |
Het |
Tnxb |
T |
C |
17: 34,909,179 (GRCm39) |
V1569A |
probably benign |
Het |
Zcchc2 |
A |
G |
1: 105,959,880 (GRCm39) |
D1163G |
probably damaging |
Het |
Zfp365 |
C |
T |
10: 67,745,197 (GRCm39) |
E194K |
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 |
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 |
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'- AGAGCCCATGTGACTGTGGG -3'
(R):5'- CTGTGGGCAGGTCTTAGCTC -3'
Sequencing Primer
(F):5'- TCTATGGACTGGACTGGTAAAACTG -3'
(R):5'- AGCTCTGGGATTGGCTTCAG -3'
|
Posted On |
2016-10-26 |