Incidental Mutation 'IGL00502:Plekha7'
| ID |
6266 |
| 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: 0.427)
|
| Stock # |
IGL00502
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
115722720-115907611 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 115734419 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 1006
(M1006K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138544
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084664]
[ENSMUST00000181981]
[ENSMUST00000181998]
[ENSMUST00000182487]
[ENSMUST00000182511]
[ENSMUST00000182834]
|
| AlphaFold |
Q3UIL6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000084664
AA Change: M832K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000081714
Gene: ENSMUSG00000045659
AA Change: M832K
| 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 damaging
Transcript: ENSMUST00000181981
AA Change: M963K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000138766
Gene: ENSMUSG00000045659
AA Change: M963K
| 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 damaging
Transcript: ENSMUST00000181998
AA Change: M1068K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000138575
Gene: ENSMUSG00000045659
AA Change: M1068K
| 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 damaging
Transcript: ENSMUST00000182443
AA Change: M986K
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000182487
AA Change: M1068K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000138214
Gene: ENSMUSG00000045659
AA Change: M1068K
| 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 damaging
Transcript: ENSMUST00000182511
AA Change: M1006K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000138544
Gene: ENSMUSG00000045659
AA Change: M1006K
| 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 damaging
Transcript: ENSMUST00000182834
AA Change: M1022K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000138257
Gene: ENSMUSG00000045659
AA Change: M1022K
| 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 |
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts20 |
A |
T |
15: 94,301,278 (GRCm39) |
I82N |
probably damaging |
Het |
| Ampd2 |
A |
T |
3: 107,984,712 (GRCm39) |
L422H |
probably damaging |
Het |
| Angptl2 |
T |
A |
2: 33,118,406 (GRCm39) |
V60E |
probably damaging |
Het |
| Ano3 |
G |
A |
2: 110,601,395 (GRCm39) |
|
probably benign |
Het |
| Arhgap40 |
A |
G |
2: 158,373,078 (GRCm39) |
D112G |
probably benign |
Het |
| Bcorl1 |
T |
G |
X: 47,494,919 (GRCm39) |
V1730G |
probably damaging |
Het |
| Btrc |
A |
T |
19: 45,515,704 (GRCm39) |
E553V |
probably damaging |
Het |
| Cacna1b |
A |
T |
2: 24,541,212 (GRCm39) |
Y1323* |
probably null |
Het |
| Ccdc146 |
A |
G |
5: 21,506,420 (GRCm39) |
C674R |
possibly damaging |
Het |
| Ccdc170 |
A |
G |
10: 4,496,836 (GRCm39) |
D458G |
probably damaging |
Het |
| Cfap57 |
T |
A |
4: 118,438,198 (GRCm39) |
M898L |
probably benign |
Het |
| Crybg1 |
C |
T |
10: 43,834,309 (GRCm39) |
V1961I |
probably damaging |
Het |
| Dsp |
T |
C |
13: 38,381,822 (GRCm39) |
S2257P |
probably damaging |
Het |
| Dytn |
A |
G |
1: 63,717,999 (GRCm39) |
V12A |
probably benign |
Het |
| Foxk2 |
A |
G |
11: 121,187,925 (GRCm39) |
|
probably benign |
Het |
| Galnt2l |
T |
C |
8: 125,054,837 (GRCm39) |
M204T |
probably damaging |
Het |
| Gfi1b |
G |
A |
2: 28,504,797 (GRCm39) |
Q70* |
probably null |
Het |
| Gsdmc |
T |
C |
15: 63,676,270 (GRCm39) |
T58A |
probably benign |
Het |
| Hikeshi |
G |
A |
7: 89,572,818 (GRCm39) |
T26I |
probably benign |
Het |
| Mpdz |
T |
C |
4: 81,287,960 (GRCm39) |
D433G |
probably damaging |
Het |
| Ndufb5 |
T |
A |
3: 32,799,048 (GRCm39) |
V55D |
probably damaging |
Het |
| Nostrin |
T |
C |
2: 69,014,336 (GRCm39) |
S431P |
probably benign |
Het |
| Pdcd1lg2 |
A |
T |
19: 29,423,462 (GRCm39) |
T169S |
possibly damaging |
Het |
| Rgs6 |
A |
T |
12: 83,098,097 (GRCm39) |
I94F |
probably benign |
Het |
| Rims2 |
A |
T |
15: 39,370,380 (GRCm39) |
D938V |
probably damaging |
Het |
| Slc4a8 |
A |
G |
15: 100,705,319 (GRCm39) |
T842A |
possibly damaging |
Het |
| Spata21 |
C |
A |
4: 140,838,675 (GRCm39) |
|
probably null |
Het |
| Stk32a |
C |
T |
18: 43,443,510 (GRCm39) |
T229I |
possibly damaging |
Het |
| Tent4b |
C |
T |
8: 88,978,886 (GRCm39) |
Q63* |
probably null |
Het |
| Trim33 |
C |
T |
3: 103,237,498 (GRCm39) |
P185S |
probably benign |
Het |
| Tspoap1 |
A |
G |
11: 87,668,647 (GRCm39) |
|
probably null |
Het |
| Vcan |
A |
G |
13: 89,840,438 (GRCm39) |
V742A |
probably benign |
Het |
| Vrtn |
A |
T |
12: 84,695,837 (GRCm39) |
I196F |
probably benign |
Het |
| Wasf1 |
A |
T |
10: 40,796,293 (GRCm39) |
I8F |
probably damaging |
Het |
| Ythdc2 |
A |
G |
18: 44,980,879 (GRCm39) |
I491M |
probably damaging |
Het |
| Zfp292 |
T |
C |
4: 34,809,775 (GRCm39) |
T1095A |
possibly damaging |
Het |
|
| Other mutations in Plekha7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2012-04-20 |
Incidental Mutation