Incidental Mutation 'IGL02523:Plekhj1'
ID |
296967 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Plekhj1
|
Ensembl Gene |
ENSMUSG00000035278 |
Gene Name |
pleckstrin homology domain containing, family J member 1 |
Synonyms |
9530063M10Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.107)
|
Stock # |
IGL02523
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
80631933-80634404 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to T
at 80633683 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000042334
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036805]
[ENSMUST00000105336]
[ENSMUST00000127740]
[ENSMUST00000147440]
[ENSMUST00000148665]
[ENSMUST00000219378]
[ENSMUST00000218209]
[ENSMUST00000219959]
[ENSMUST00000150338]
[ENSMUST00000151928]
[ENSMUST00000149394]
|
AlphaFold |
Q9D240 |
Predicted Effect |
probably null
Transcript: ENSMUST00000036805
|
SMART Domains |
Protein: ENSMUSP00000042334 Gene: ENSMUSG00000035278
Domain | Start | End | E-Value | Type |
PH
|
16 |
110 |
1.48e-7 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000105336
|
SMART Domains |
Protein: ENSMUSP00000100973 Gene: ENSMUSG00000061589
Domain | Start | End | E-Value | Type |
Pfam:DOT1
|
115 |
317 |
9.4e-86 |
PFAM |
low complexity region
|
335 |
348 |
N/A |
INTRINSIC |
AT_hook
|
407 |
419 |
4.64e-1 |
SMART |
low complexity region
|
437 |
447 |
N/A |
INTRINSIC |
coiled coil region
|
558 |
647 |
N/A |
INTRINSIC |
low complexity region
|
917 |
936 |
N/A |
INTRINSIC |
low complexity region
|
948 |
961 |
N/A |
INTRINSIC |
low complexity region
|
1084 |
1095 |
N/A |
INTRINSIC |
low complexity region
|
1145 |
1157 |
N/A |
INTRINSIC |
low complexity region
|
1186 |
1198 |
N/A |
INTRINSIC |
low complexity region
|
1436 |
1446 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000127740
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000138505
|
SMART Domains |
Protein: ENSMUSP00000119492 Gene: ENSMUSG00000061589
Domain | Start | End | E-Value | Type |
low complexity region
|
24 |
43 |
N/A |
INTRINSIC |
low complexity region
|
52 |
64 |
N/A |
INTRINSIC |
low complexity region
|
73 |
87 |
N/A |
INTRINSIC |
low complexity region
|
92 |
137 |
N/A |
INTRINSIC |
low complexity region
|
189 |
206 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139461
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000147440
|
SMART Domains |
Protein: ENSMUSP00000116478 Gene: ENSMUSG00000020211
Domain | Start | End | E-Value | Type |
low complexity region
|
18 |
36 |
N/A |
INTRINSIC |
Blast:CactinC_cactus
|
41 |
67 |
1e-9 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000148665
|
SMART Domains |
Protein: ENSMUSP00000117160 Gene: ENSMUSG00000020211
Domain | Start | End | E-Value | Type |
low complexity region
|
18 |
36 |
N/A |
INTRINSIC |
ZnF_U1
|
51 |
85 |
5.02e-9 |
SMART |
ZnF_C2H2
|
54 |
78 |
1.23e1 |
SMART |
CactinC_cactus
|
91 |
219 |
8.29e-35 |
SMART |
low complexity region
|
300 |
318 |
N/A |
INTRINSIC |
low complexity region
|
320 |
420 |
N/A |
INTRINSIC |
low complexity region
|
423 |
452 |
N/A |
INTRINSIC |
low complexity region
|
459 |
484 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217735
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218036
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219767
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000219378
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220002
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000218209
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000219959
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000150338
|
SMART Domains |
Protein: ENSMUSP00000116581 Gene: ENSMUSG00000061589
Domain | Start | End | E-Value | Type |
Pfam:DOT1
|
1 |
100 |
3.4e-37 |
PFAM |
low complexity region
|
118 |
131 |
N/A |
INTRINSIC |
AT_hook
|
190 |
202 |
4.64e-1 |
SMART |
low complexity region
|
220 |
230 |
N/A |
INTRINSIC |
low complexity region
|
371 |
390 |
N/A |
INTRINSIC |
SCOP:d1fxkc_
|
396 |
441 |
1e-3 |
SMART |
low complexity region
|
700 |
719 |
N/A |
INTRINSIC |
low complexity region
|
731 |
744 |
N/A |
INTRINSIC |
low complexity region
|
867 |
878 |
N/A |
INTRINSIC |
low complexity region
|
928 |
940 |
N/A |
INTRINSIC |
low complexity region
|
969 |
981 |
N/A |
INTRINSIC |
low complexity region
|
1020 |
1032 |
N/A |
INTRINSIC |
low complexity region
|
1041 |
1055 |
N/A |
INTRINSIC |
low complexity region
|
1060 |
1105 |
N/A |
INTRINSIC |
low complexity region
|
1157 |
1174 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000151928
|
SMART Domains |
Protein: ENSMUSP00000114164 Gene: ENSMUSG00000020211
Domain | Start | End | E-Value | Type |
low complexity region
|
18 |
36 |
N/A |
INTRINSIC |
ZnF_U1
|
51 |
85 |
5.02e-9 |
SMART |
ZnF_C2H2
|
54 |
78 |
1.23e1 |
SMART |
CactinC_cactus
|
91 |
194 |
1.26e-4 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220093
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000149394
|
SMART Domains |
Protein: ENSMUSP00000127762 Gene: ENSMUSG00000061589
Domain | Start | End | E-Value | Type |
low complexity region
|
24 |
36 |
N/A |
INTRINSIC |
low complexity region
|
65 |
77 |
N/A |
INTRINSIC |
low complexity region
|
315 |
325 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Asah1 |
T |
C |
8: 41,804,984 (GRCm39) |
D109G |
probably benign |
Het |
Ces2c |
C |
A |
8: 105,574,746 (GRCm39) |
P68T |
probably damaging |
Het |
Csl |
G |
A |
10: 99,594,675 (GRCm39) |
T130I |
probably benign |
Het |
Cyp2g1 |
C |
T |
7: 26,518,612 (GRCm39) |
R376W |
probably damaging |
Het |
Ddb1 |
T |
C |
19: 10,604,996 (GRCm39) |
L1029P |
probably damaging |
Het |
Dennd4c |
T |
C |
4: 86,692,490 (GRCm39) |
|
probably benign |
Het |
Eya2 |
C |
T |
2: 165,596,356 (GRCm39) |
|
probably benign |
Het |
Fars2 |
G |
T |
13: 36,388,676 (GRCm39) |
G55V |
probably damaging |
Het |
Fcgbp |
C |
A |
7: 27,804,157 (GRCm39) |
A1755E |
possibly damaging |
Het |
Ggt7 |
T |
A |
2: 155,356,623 (GRCm39) |
E32V |
probably damaging |
Het |
Heg1 |
C |
A |
16: 33,558,992 (GRCm39) |
T1071K |
probably damaging |
Het |
Hpca |
A |
G |
4: 129,012,368 (GRCm39) |
F56S |
probably damaging |
Het |
Hyal4 |
T |
A |
6: 24,765,968 (GRCm39) |
Y441N |
probably damaging |
Het |
Igsf8 |
T |
A |
1: 172,146,980 (GRCm39) |
|
probably benign |
Het |
Ints13 |
A |
G |
6: 146,459,109 (GRCm39) |
S301P |
probably benign |
Het |
Krt33a |
G |
A |
11: 99,902,518 (GRCm39) |
T374I |
probably benign |
Het |
Nav3 |
T |
C |
10: 109,605,157 (GRCm39) |
D972G |
probably damaging |
Het |
Npc1 |
T |
C |
18: 12,334,629 (GRCm39) |
T708A |
probably benign |
Het |
Or10ag52 |
A |
T |
2: 87,043,664 (GRCm39) |
N143Y |
probably benign |
Het |
Or13p10 |
A |
T |
4: 118,523,238 (GRCm39) |
N175Y |
probably benign |
Het |
Or1l8 |
T |
C |
2: 36,817,967 (GRCm39) |
D53G |
probably damaging |
Het |
Or6d14 |
A |
T |
6: 116,534,054 (GRCm39) |
I223L |
probably benign |
Het |
P2rx2 |
A |
G |
5: 110,489,908 (GRCm39) |
S87P |
probably damaging |
Het |
Pdxdc1 |
A |
T |
16: 13,699,799 (GRCm39) |
L62H |
probably damaging |
Het |
Ptbp2 |
A |
T |
3: 119,534,136 (GRCm39) |
Y244* |
probably null |
Het |
Ralbp1 |
T |
C |
17: 66,166,086 (GRCm39) |
E366G |
probably damaging |
Het |
Rergl |
T |
A |
6: 139,473,458 (GRCm39) |
|
probably benign |
Het |
Slc25a45 |
T |
A |
19: 5,934,637 (GRCm39) |
|
probably null |
Het |
Spop |
G |
A |
11: 95,376,747 (GRCm39) |
D267N |
possibly damaging |
Het |
Tars2 |
T |
C |
3: 95,648,705 (GRCm39) |
D625G |
probably damaging |
Het |
Tlk2 |
A |
G |
11: 105,166,773 (GRCm39) |
K593R |
probably damaging |
Het |
Tlr3 |
T |
A |
8: 45,851,428 (GRCm39) |
|
probably null |
Het |
Tmem205 |
C |
T |
9: 21,832,584 (GRCm39) |
R109H |
probably benign |
Het |
Tmem41b |
A |
G |
7: 109,581,935 (GRCm39) |
I56T |
probably damaging |
Het |
Ube2q2 |
T |
C |
9: 55,099,163 (GRCm39) |
V168A |
probably damaging |
Het |
Ufsp2 |
T |
A |
8: 46,436,585 (GRCm39) |
M112K |
probably damaging |
Het |
Wipi2 |
T |
A |
5: 142,646,787 (GRCm39) |
V208E |
probably damaging |
Het |
Xkr9 |
A |
G |
1: 13,754,474 (GRCm39) |
E156G |
probably benign |
Het |
|
Other mutations in Plekhj1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00229:Plekhj1
|
APN |
10 |
80,632,436 (GRCm39) |
splice site |
probably null |
|
PIT4403001:Plekhj1
|
UTSW |
10 |
80,632,293 (GRCm39) |
missense |
unknown |
|
R0016:Plekhj1
|
UTSW |
10 |
80,632,250 (GRCm39) |
missense |
possibly damaging |
0.90 |
R0288:Plekhj1
|
UTSW |
10 |
80,632,444 (GRCm39) |
missense |
probably damaging |
1.00 |
R1136:Plekhj1
|
UTSW |
10 |
80,633,654 (GRCm39) |
splice site |
probably null |
|
R2262:Plekhj1
|
UTSW |
10 |
80,632,306 (GRCm39) |
missense |
probably benign |
0.01 |
R3937:Plekhj1
|
UTSW |
10 |
80,633,609 (GRCm39) |
missense |
probably damaging |
0.99 |
R3938:Plekhj1
|
UTSW |
10 |
80,633,609 (GRCm39) |
missense |
probably damaging |
0.99 |
R4938:Plekhj1
|
UTSW |
10 |
80,633,609 (GRCm39) |
missense |
probably damaging |
1.00 |
R7231:Plekhj1
|
UTSW |
10 |
80,633,492 (GRCm39) |
missense |
probably damaging |
0.96 |
R7546:Plekhj1
|
UTSW |
10 |
80,633,748 (GRCm39) |
missense |
possibly damaging |
0.52 |
R7782:Plekhj1
|
UTSW |
10 |
80,634,179 (GRCm39) |
unclassified |
probably benign |
|
R8429:Plekhj1
|
UTSW |
10 |
80,632,304 (GRCm39) |
missense |
probably benign |
|
R9627:Plekhj1
|
UTSW |
10 |
80,633,494 (GRCm39) |
missense |
possibly damaging |
0.95 |
RF018:Plekhj1
|
UTSW |
10 |
80,632,471 (GRCm39) |
missense |
not run |
|
|
Posted On |
2015-04-16 |