Incidental Mutation 'IGL00591:Iqce'
ID |
13557 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Iqce
|
Ensembl Gene |
ENSMUSG00000036555 |
Gene Name |
IQ motif containing E |
Synonyms |
1700028P05Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL00591
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
140648308-140688158 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to T
at 140663883 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Stop codon
at position 132
(L132*)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041783]
[ENSMUST00000077890]
|
AlphaFold |
Q6PCQ0 |
Predicted Effect |
probably null
Transcript: ENSMUST00000041783
AA Change: L442*
|
SMART Domains |
Protein: ENSMUSP00000045913 Gene: ENSMUSG00000036555 AA Change: L442*
Domain | Start | End | E-Value | Type |
low complexity region
|
33 |
53 |
N/A |
INTRINSIC |
low complexity region
|
128 |
139 |
N/A |
INTRINSIC |
coiled coil region
|
157 |
190 |
N/A |
INTRINSIC |
coiled coil region
|
212 |
266 |
N/A |
INTRINSIC |
coiled coil region
|
287 |
323 |
N/A |
INTRINSIC |
low complexity region
|
345 |
362 |
N/A |
INTRINSIC |
coiled coil region
|
398 |
491 |
N/A |
INTRINSIC |
IQ
|
552 |
574 |
1.36e-3 |
SMART |
low complexity region
|
579 |
598 |
N/A |
INTRINSIC |
IQ
|
614 |
636 |
1.63e-1 |
SMART |
low complexity region
|
734 |
753 |
N/A |
INTRINSIC |
low complexity region
|
754 |
766 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000077890
AA Change: L397*
|
SMART Domains |
Protein: ENSMUSP00000077050 Gene: ENSMUSG00000036555 AA Change: L397*
Domain | Start | End | E-Value | Type |
low complexity region
|
33 |
53 |
N/A |
INTRINSIC |
coiled coil region
|
112 |
145 |
N/A |
INTRINSIC |
coiled coil region
|
167 |
221 |
N/A |
INTRINSIC |
coiled coil region
|
242 |
278 |
N/A |
INTRINSIC |
low complexity region
|
300 |
317 |
N/A |
INTRINSIC |
coiled coil region
|
353 |
446 |
N/A |
INTRINSIC |
IQ
|
507 |
529 |
1.36e-3 |
SMART |
low complexity region
|
534 |
553 |
N/A |
INTRINSIC |
IQ
|
569 |
591 |
1.63e-1 |
SMART |
low complexity region
|
628 |
647 |
N/A |
INTRINSIC |
low complexity region
|
717 |
736 |
N/A |
INTRINSIC |
low complexity region
|
737 |
749 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124005
|
Predicted Effect |
probably null
Transcript: ENSMUST00000129704
AA Change: L132*
|
SMART Domains |
Protein: ENSMUSP00000121457 Gene: ENSMUSG00000036555 AA Change: L132*
Domain | Start | End | E-Value | Type |
coiled coil region
|
1 |
33 |
N/A |
INTRINSIC |
low complexity region
|
42 |
52 |
N/A |
INTRINSIC |
coiled coil region
|
88 |
181 |
N/A |
INTRINSIC |
IQ
|
186 |
208 |
1.36e-3 |
SMART |
low complexity region
|
213 |
232 |
N/A |
INTRINSIC |
IQ
|
248 |
270 |
1.63e-1 |
SMART |
low complexity region
|
312 |
331 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136385
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 15 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Csmd3 |
C |
T |
15: 47,868,279 (GRCm39) |
C747Y |
probably damaging |
Het |
Elk3 |
T |
C |
10: 93,120,689 (GRCm39) |
N50S |
probably damaging |
Het |
Esyt2 |
T |
A |
12: 116,327,064 (GRCm39) |
L544H |
probably damaging |
Het |
Faap20 |
A |
G |
4: 155,335,067 (GRCm39) |
N56S |
probably benign |
Het |
Fnd3c2 |
T |
A |
X: 105,279,597 (GRCm39) |
Y845F |
probably damaging |
Het |
Gm1110 |
C |
A |
9: 26,792,170 (GRCm39) |
E617* |
probably null |
Het |
Gpbp1 |
T |
C |
13: 111,577,284 (GRCm39) |
D202G |
probably damaging |
Het |
Hecw1 |
C |
T |
13: 14,440,565 (GRCm39) |
G1242R |
possibly damaging |
Het |
Mthfd1 |
C |
A |
12: 76,347,213 (GRCm39) |
P550Q |
possibly damaging |
Het |
Pabpc6 |
C |
T |
17: 9,887,427 (GRCm39) |
V375I |
possibly damaging |
Het |
Sh2d4b |
G |
T |
14: 40,594,490 (GRCm39) |
F163L |
probably benign |
Het |
Sp140 |
G |
A |
1: 85,549,393 (GRCm39) |
R208K |
probably benign |
Het |
Vps13d |
T |
C |
4: 144,917,129 (GRCm39) |
T12A |
possibly damaging |
Het |
Xkr8 |
A |
T |
4: 132,455,357 (GRCm39) |
Y339N |
probably damaging |
Het |
Zfp108 |
A |
G |
7: 23,960,911 (GRCm39) |
K501E |
possibly damaging |
Het |
|
Other mutations in Iqce |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01862:Iqce
|
APN |
5 |
140,685,480 (GRCm39) |
missense |
possibly damaging |
0.93 |
R0255:Iqce
|
UTSW |
5 |
140,651,957 (GRCm39) |
missense |
possibly damaging |
0.62 |
R0492:Iqce
|
UTSW |
5 |
140,660,990 (GRCm39) |
missense |
probably damaging |
0.99 |
R0580:Iqce
|
UTSW |
5 |
140,651,156 (GRCm39) |
missense |
possibly damaging |
0.85 |
R0592:Iqce
|
UTSW |
5 |
140,671,862 (GRCm39) |
splice site |
probably null |
|
R2177:Iqce
|
UTSW |
5 |
140,677,348 (GRCm39) |
splice site |
probably benign |
|
R4849:Iqce
|
UTSW |
5 |
140,679,214 (GRCm39) |
missense |
possibly damaging |
0.84 |
R4979:Iqce
|
UTSW |
5 |
140,677,376 (GRCm39) |
missense |
probably damaging |
1.00 |
R5007:Iqce
|
UTSW |
5 |
140,661,003 (GRCm39) |
missense |
possibly damaging |
0.48 |
R5341:Iqce
|
UTSW |
5 |
140,675,814 (GRCm39) |
missense |
possibly damaging |
0.95 |
R5558:Iqce
|
UTSW |
5 |
140,657,560 (GRCm39) |
critical splice donor site |
probably null |
|
R5765:Iqce
|
UTSW |
5 |
140,651,895 (GRCm39) |
missense |
probably damaging |
0.99 |
R5910:Iqce
|
UTSW |
5 |
140,687,973 (GRCm39) |
unclassified |
probably benign |
|
R6354:Iqce
|
UTSW |
5 |
140,662,090 (GRCm39) |
splice site |
probably null |
|
R6732:Iqce
|
UTSW |
5 |
140,660,990 (GRCm39) |
missense |
probably benign |
|
R7050:Iqce
|
UTSW |
5 |
140,651,846 (GRCm39) |
missense |
possibly damaging |
0.76 |
R7238:Iqce
|
UTSW |
5 |
140,675,713 (GRCm39) |
nonsense |
probably null |
|
R7567:Iqce
|
UTSW |
5 |
140,671,830 (GRCm39) |
missense |
probably damaging |
1.00 |
R7735:Iqce
|
UTSW |
5 |
140,663,839 (GRCm39) |
missense |
probably benign |
0.00 |
R8339:Iqce
|
UTSW |
5 |
140,660,093 (GRCm39) |
missense |
probably damaging |
0.97 |
R8951:Iqce
|
UTSW |
5 |
140,675,578 (GRCm39) |
missense |
probably damaging |
1.00 |
R9043:Iqce
|
UTSW |
5 |
140,651,810 (GRCm39) |
missense |
probably benign |
0.01 |
R9348:Iqce
|
UTSW |
5 |
140,677,380 (GRCm39) |
missense |
probably damaging |
1.00 |
R9571:Iqce
|
UTSW |
5 |
140,651,862 (GRCm39) |
missense |
possibly damaging |
0.65 |
R9630:Iqce
|
UTSW |
5 |
140,666,591 (GRCm39) |
missense |
possibly damaging |
0.63 |
R9734:Iqce
|
UTSW |
5 |
140,678,564 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Posted On |
2012-12-06 |