Incidental Mutation 'R0592:Iqce'
| ID |
56021 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Iqce
|
| Ensembl Gene |
ENSMUSG00000036555 |
| Gene Name |
IQ motif containing E |
| Synonyms |
1700028P05Rik |
| MMRRC Submission |
038782-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0592 (G1)
|
| Quality Score |
169 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
140648308-140688158 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 140671862 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041783]
[ENSMUST00000041783]
[ENSMUST00000041783]
[ENSMUST00000077890]
[ENSMUST00000077890]
[ENSMUST00000077890]
[ENSMUST00000142081]
|
| AlphaFold |
Q6PCQ0 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000041783
|
| SMART Domains |
Protein: ENSMUSP00000045913
Gene: ENSMUSG00000036555
| 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: ENSMUST00000041783
|
| SMART Domains |
Protein: ENSMUSP00000045913
Gene: ENSMUSG00000036555
| 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: ENSMUST00000041783
|
| SMART Domains |
Protein: ENSMUSP00000045913
Gene: ENSMUSG00000036555
| 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
|
| SMART Domains |
Protein: ENSMUSP00000077050
Gene: ENSMUSG00000036555
| 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 |
probably null
Transcript: ENSMUST00000077890
|
| SMART Domains |
Protein: ENSMUSP00000077050
Gene: ENSMUSG00000036555
| 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 |
probably null
Transcript: ENSMUST00000077890
|
| SMART Domains |
Protein: ENSMUSP00000077050
Gene: ENSMUSG00000036555
| 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: ENSMUST00000123683
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124005
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000129704
|
| SMART Domains |
Protein: ENSMUSP00000121457
Gene: ENSMUSG00000036555
| 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
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142081
|
| SMART Domains |
Protein: ENSMUSP00000120637
Gene: ENSMUSG00000036555
| 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 |
185 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149674
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.5%
- 20x: 95.0%
|
| Validation Efficiency |
100% (35/35) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atg2a |
GCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC |
GCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC |
19: 6,295,037 (GRCm39) |
|
probably benign |
Het |
| Bbs7 |
A |
T |
3: 36,664,446 (GRCm39) |
V53D |
probably benign |
Het |
| Bglap |
T |
A |
3: 88,290,962 (GRCm39) |
I90F |
probably benign |
Het |
| C2cd4b |
G |
A |
9: 67,667,973 (GRCm39) |
R323H |
probably damaging |
Het |
| Cdh5 |
T |
A |
8: 104,857,534 (GRCm39) |
|
probably null |
Het |
| Cdh8 |
T |
A |
8: 100,006,110 (GRCm39) |
D159V |
probably damaging |
Het |
| Dnah7a |
A |
G |
1: 53,495,771 (GRCm39) |
Y3229H |
possibly damaging |
Het |
| Dzip1 |
T |
C |
14: 119,139,551 (GRCm39) |
E381G |
probably damaging |
Het |
| Elmod1 |
A |
G |
9: 53,833,390 (GRCm39) |
|
probably benign |
Het |
| Exosc10 |
T |
C |
4: 148,665,570 (GRCm39) |
S811P |
probably benign |
Het |
| Fhl3 |
A |
G |
4: 124,599,470 (GRCm39) |
Y15C |
probably benign |
Het |
| Gstz1 |
G |
A |
12: 87,210,495 (GRCm39) |
S126N |
probably benign |
Het |
| Hey2 |
C |
A |
10: 30,709,953 (GRCm39) |
A267S |
probably benign |
Het |
| Katnal2 |
A |
T |
18: 77,090,256 (GRCm39) |
|
probably null |
Het |
| Kdm2b |
G |
A |
5: 123,099,197 (GRCm39) |
|
probably benign |
Het |
| Mov10l1 |
A |
G |
15: 88,882,969 (GRCm39) |
|
probably null |
Het |
| Numa1 |
A |
G |
7: 101,663,104 (GRCm39) |
T724A |
probably benign |
Het |
| Oas3 |
A |
G |
5: 120,909,214 (GRCm39) |
F244S |
probably damaging |
Het |
| Or2d2 |
G |
A |
7: 106,728,550 (GRCm39) |
L17F |
probably benign |
Het |
| Or5b117 |
T |
C |
19: 13,431,069 (GRCm39) |
I271V |
probably benign |
Het |
| Rab37 |
T |
G |
11: 115,051,349 (GRCm39) |
|
probably benign |
Het |
| Riox2 |
T |
C |
16: 59,309,942 (GRCm39) |
|
probably benign |
Het |
| Ryr3 |
A |
G |
2: 112,508,826 (GRCm39) |
S3358P |
probably damaging |
Het |
| Sash1 |
T |
A |
10: 8,605,546 (GRCm39) |
H948L |
probably benign |
Het |
| Serpinb6e |
T |
A |
13: 34,025,057 (GRCm39) |
N78I |
probably damaging |
Het |
| Slc25a47 |
G |
A |
12: 108,820,184 (GRCm39) |
V63M |
probably damaging |
Het |
| Slc9b1 |
A |
T |
3: 135,099,835 (GRCm39) |
|
probably benign |
Het |
| Strip2 |
T |
A |
6: 29,931,209 (GRCm39) |
S387T |
probably benign |
Het |
| Tcaf3 |
T |
C |
6: 42,573,777 (GRCm39) |
N145S |
probably benign |
Het |
| Tex10 |
C |
T |
4: 48,456,800 (GRCm39) |
R637Q |
probably benign |
Het |
| Trmu |
T |
C |
15: 85,781,027 (GRCm39) |
|
probably benign |
Het |
| Vezf1 |
A |
T |
11: 88,068,435 (GRCm38) |
|
probably benign |
Het |
| Vmn2r116 |
C |
T |
17: 23,605,889 (GRCm39) |
T267I |
probably damaging |
Het |
| Whrn |
C |
A |
4: 63,333,804 (GRCm39) |
A450S |
probably damaging |
Het |
| Ypel1 |
A |
G |
16: 16,925,083 (GRCm39) |
S30P |
probably benign |
Het |
|
| Other mutations in Iqce |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00591:Iqce
|
APN |
5 |
140,663,883 (GRCm39) |
nonsense |
probably null |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCACTGCCCTTAATAAGCATTGCAC -3'
(R):5'- TGTGGTCAAGGTCAACGCCATC -3'
Sequencing Primer
(F):5'- TTAATAAGCATTGCACAACTCCC -3'
(R):5'- ACTTGGGTTTCCAGCAAACTG -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation