Incidental Mutation 'R7820:Plekha7'
| ID |
601816 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plekha7
|
| Ensembl Gene |
ENSMUSG00000045659 |
| Gene Name |
pleckstrin homology domain containing, family A member 7 |
| Synonyms |
A430081P20Rik |
| MMRRC Submission |
045874-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.406)
|
| Stock # |
R7820 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
115722720-115907611 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 115836715 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 18
(F18I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138257
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000181998]
[ENSMUST00000182487]
[ENSMUST00000182834]
[ENSMUST00000183057]
[ENSMUST00000216517]
|
| AlphaFold |
Q3UIL6 |
| 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: 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: ENSMUST00000182834
AA Change: F18I
PolyPhen 2
Score 0.120 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000138257
Gene: ENSMUSG00000045659
AA Change: F18I
| 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: 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 benign
Transcript: ENSMUST00000206662
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216517
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
96% (49/51) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933405O20Rik |
T |
A |
7: 50,249,371 (GRCm39) |
I135N |
probably benign |
Het |
| Abca14 |
A |
T |
7: 119,811,944 (GRCm39) |
N175I |
probably benign |
Het |
| Adam12 |
A |
G |
7: 133,599,917 (GRCm39) |
V99A |
probably benign |
Het |
| Ankfn1 |
G |
T |
11: 89,311,956 (GRCm39) |
P730T |
probably damaging |
Het |
| Arhgap21 |
A |
G |
2: 20,867,983 (GRCm39) |
S847P |
probably damaging |
Het |
| Cacna1i |
C |
T |
15: 80,256,573 (GRCm39) |
A989V |
probably benign |
Het |
| Cacnb2 |
T |
A |
2: 14,965,477 (GRCm39) |
N152K |
probably damaging |
Het |
| Cemip2 |
C |
T |
19: 21,784,825 (GRCm39) |
A436V |
probably damaging |
Het |
| Chd3 |
A |
T |
11: 69,244,064 (GRCm39) |
Y1334N |
probably damaging |
Het |
| Cimap1a |
A |
C |
7: 140,429,176 (GRCm39) |
T128P |
probably benign |
Het |
| Clca4a |
A |
T |
3: 144,666,432 (GRCm39) |
D473E |
probably damaging |
Het |
| Crhr2 |
A |
C |
6: 55,079,764 (GRCm39) |
I191S |
probably damaging |
Het |
| Eef1akmt3 |
T |
C |
10: 126,869,063 (GRCm39) |
Q137R |
possibly damaging |
Het |
| Eml1 |
T |
C |
12: 108,481,433 (GRCm39) |
I432T |
possibly damaging |
Het |
| Fcgbp |
A |
G |
7: 27,819,784 (GRCm39) |
T2504A |
probably benign |
Het |
| Hmgxb4 |
G |
T |
8: 75,727,574 (GRCm39) |
E186* |
probably null |
Het |
| Ighv16-1 |
T |
C |
12: 114,032,589 (GRCm39) |
N71S |
probably benign |
Het |
| Kif2b |
A |
G |
11: 91,468,100 (GRCm39) |
V61A |
probably benign |
Het |
| Map1b |
C |
T |
13: 99,567,685 (GRCm39) |
G1679R |
unknown |
Het |
| Mast4 |
G |
A |
13: 102,890,596 (GRCm39) |
S1086L |
probably damaging |
Het |
| Mcm8 |
A |
G |
2: 132,682,692 (GRCm39) |
E724G |
possibly damaging |
Het |
| Mfap5 |
C |
A |
6: 122,497,880 (GRCm39) |
D51E |
probably damaging |
Het |
| Mon1a |
T |
C |
9: 107,778,511 (GRCm39) |
L245P |
probably damaging |
Het |
| Mtx1 |
G |
T |
3: 89,121,315 (GRCm39) |
H106Q |
probably benign |
Het |
| Naip1 |
G |
A |
13: 100,559,578 (GRCm39) |
S1142F |
probably benign |
Het |
| Ngp |
A |
G |
9: 110,249,932 (GRCm39) |
T77A |
probably benign |
Het |
| Oca2 |
A |
T |
7: 55,981,713 (GRCm39) |
I612F |
probably damaging |
Het |
| Or11a4 |
A |
T |
17: 37,536,786 (GRCm39) |
M257L |
probably benign |
Het |
| Or4c119 |
T |
A |
2: 88,986,592 (GRCm39) |
D309V |
probably benign |
Het |
| Or8b3 |
A |
T |
9: 38,314,862 (GRCm39) |
I228F |
probably damaging |
Het |
| Otop3 |
T |
A |
11: 115,230,414 (GRCm39) |
V97D |
probably damaging |
Het |
| Ovgp1 |
A |
G |
3: 105,893,837 (GRCm39) |
|
probably benign |
Het |
| Pdc |
T |
C |
1: 150,209,021 (GRCm39) |
I168T |
probably damaging |
Het |
| Peg10 |
CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG |
CCACATCAGGATCCACATCAGGATGCACATCAG |
6: 4,756,398 (GRCm39) |
|
probably benign |
Het |
| Plppr4 |
A |
G |
3: 117,115,598 (GRCm39) |
I753T |
possibly damaging |
Het |
| Pms2 |
T |
G |
5: 143,851,451 (GRCm39) |
S123A |
possibly damaging |
Het |
| Pou4f2 |
T |
A |
8: 79,163,131 (GRCm39) |
|
probably benign |
Het |
| Ptch1 |
A |
T |
13: 63,670,875 (GRCm39) |
L885Q |
probably damaging |
Het |
| Repin1 |
G |
T |
6: 48,574,279 (GRCm39) |
E403* |
probably null |
Het |
| Rgs11 |
T |
A |
17: 26,424,169 (GRCm39) |
|
probably null |
Het |
| Samd3 |
T |
A |
10: 26,109,416 (GRCm39) |
|
probably null |
Het |
| Slit3 |
A |
G |
11: 35,591,235 (GRCm39) |
D1349G |
probably benign |
Het |
| Sorbs2 |
A |
T |
8: 46,249,593 (GRCm39) |
Q868L |
probably null |
Het |
| Speer4f1 |
T |
A |
5: 17,684,528 (GRCm39) |
S185R |
probably damaging |
Het |
| Spin2f |
A |
G |
X: 30,905,635 (GRCm39) |
K28R |
probably benign |
Het |
| Tas2r125 |
T |
G |
6: 132,886,841 (GRCm39) |
I76M |
probably benign |
Het |
| Tex15 |
A |
T |
8: 34,065,090 (GRCm39) |
I1507F |
probably damaging |
Het |
| Vmn1r215 |
A |
T |
13: 23,260,715 (GRCm39) |
I252F |
probably damaging |
Het |
| Vmn1r71 |
A |
G |
7: 10,482,652 (GRCm39) |
F12S |
possibly damaging |
Het |
| Zfp128 |
A |
G |
7: 12,624,949 (GRCm39) |
Y439C |
probably benign |
Het |
| Zfp764l1 |
A |
T |
7: 126,990,608 (GRCm39) |
W460R |
possibly 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 |
|
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 |
|
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'- CATGAACACAGGCAGGACTTG -3'
(R):5'- TGTGGGCTCTTCGTAAAGGC -3'
Sequencing Primer
(F):5'- TGGAGACGCGATTCTTAACC -3'
(R):5'- TCTTCGTAAAGGCCCCGG -3'
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| Posted On |
2019-12-03 |
Incidental Mutation