Incidental Mutation 'R0580:Iqce'
| ID |
56387 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Iqce
|
| Ensembl Gene |
ENSMUSG00000036555 |
| Gene Name |
IQ motif containing E |
| Synonyms |
1700028P05Rik |
| MMRRC Submission |
038770-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0580 (G1)
|
| Quality Score |
197 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
140648308-140688158 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 140651156 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 768
(F768L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045913
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041783]
[ENSMUST00000077890]
|
| AlphaFold |
Q6PCQ0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000041783
AA Change: F768L
PolyPhen 2
Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000045913
Gene: ENSMUSG00000036555
AA Change: F768L
| 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 benign
Transcript: ENSMUST00000077890
AA Change: F751L
PolyPhen 2
Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000077050
Gene: ENSMUSG00000036555
AA Change: F751L
| 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 benign
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 |
noncoding transcript
Transcript: ENSMUST00000147839
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148788
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.2%
- 20x: 93.7%
|
| Validation Efficiency |
95% (40/42) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2fm3 |
T |
A |
3: 59,784,470 (GRCm39) |
D314E |
probably damaging |
Het |
| Abcc10 |
C |
T |
17: 46,616,882 (GRCm39) |
|
probably null |
Het |
| Adgrg5 |
T |
C |
8: 95,663,972 (GRCm39) |
|
probably null |
Het |
| Akap12 |
A |
T |
10: 4,304,741 (GRCm39) |
D517V |
possibly damaging |
Het |
| Arhgap23 |
AGAGGAGGAGGAGGAGG |
AGAGGAGGAGGAGG |
11: 97,337,362 (GRCm39) |
|
probably null |
Het |
| Bpi |
A |
T |
2: 158,100,215 (GRCm39) |
M1L |
probably damaging |
Het |
| Carm1 |
C |
T |
9: 21,494,880 (GRCm39) |
P339S |
probably damaging |
Het |
| Chchd3 |
A |
C |
6: 32,870,325 (GRCm39) |
|
probably null |
Het |
| Chd9 |
T |
C |
8: 91,721,191 (GRCm39) |
V520A |
possibly damaging |
Het |
| Chmp7 |
C |
T |
14: 69,956,899 (GRCm39) |
M336I |
probably benign |
Het |
| Col10a1 |
A |
G |
10: 34,270,948 (GRCm39) |
R307G |
probably benign |
Het |
| Cpeb3 |
T |
C |
19: 37,151,435 (GRCm39) |
T314A |
probably benign |
Het |
| Csmd1 |
A |
T |
8: 15,960,528 (GRCm39) |
Y3296N |
probably damaging |
Het |
| Dtx2 |
A |
T |
5: 136,061,180 (GRCm39) |
T521S |
probably damaging |
Het |
| Ext2 |
A |
T |
2: 93,626,070 (GRCm39) |
V330E |
probably benign |
Het |
| Extl3 |
A |
G |
14: 65,313,178 (GRCm39) |
L668P |
probably damaging |
Het |
| Gm6605 |
C |
A |
7: 38,147,699 (GRCm39) |
|
noncoding transcript |
Het |
| Grm8 |
A |
G |
6: 27,761,370 (GRCm39) |
|
probably benign |
Het |
| Herc2 |
T |
A |
7: 55,788,539 (GRCm39) |
V1763D |
probably damaging |
Het |
| Ino80 |
G |
A |
2: 119,213,962 (GRCm39) |
P1203S |
probably damaging |
Het |
| Kntc1 |
G |
A |
5: 123,941,732 (GRCm39) |
V1809I |
probably benign |
Het |
| Lyzl1 |
A |
C |
18: 4,181,134 (GRCm39) |
T58P |
probably damaging |
Het |
| Mlxipl |
A |
G |
5: 135,152,829 (GRCm39) |
T287A |
probably benign |
Het |
| Mroh2a |
G |
A |
1: 88,171,672 (GRCm39) |
R770Q |
probably damaging |
Het |
| Net1 |
A |
G |
13: 3,936,612 (GRCm39) |
Y264H |
probably damaging |
Het |
| Nnmt |
T |
C |
9: 48,503,600 (GRCm39) |
D142G |
probably damaging |
Het |
| Nod2 |
T |
A |
8: 89,391,034 (GRCm39) |
I432N |
probably damaging |
Het |
| Or2h2c |
G |
C |
17: 37,422,347 (GRCm39) |
L176V |
probably benign |
Het |
| Or2y1g |
T |
A |
11: 49,171,449 (GRCm39) |
I158N |
probably damaging |
Het |
| Or6b6 |
A |
G |
7: 106,571,447 (GRCm39) |
Y35H |
probably damaging |
Het |
| Pign |
A |
C |
1: 105,519,419 (GRCm39) |
I501S |
probably benign |
Het |
| Scgb2b19 |
A |
T |
7: 32,977,995 (GRCm39) |
S101T |
probably benign |
Het |
| Slc7a5 |
A |
T |
8: 122,611,855 (GRCm39) |
M391K |
probably benign |
Het |
| Sptan1 |
A |
G |
2: 29,897,587 (GRCm39) |
R1217G |
probably damaging |
Het |
| Srgap2 |
A |
G |
1: 131,277,239 (GRCm39) |
V336A |
possibly damaging |
Het |
| Srsf11 |
C |
T |
3: 157,717,704 (GRCm39) |
|
probably benign |
Het |
| Syt10 |
A |
T |
15: 89,711,379 (GRCm39) |
D51E |
probably benign |
Het |
| Vmn2r96 |
T |
C |
17: 18,802,900 (GRCm39) |
V270A |
probably damaging |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGGCACTAGAAACACACAGGC -3'
(R):5'- TCGGTTCTGAATCCCTTTGCATGG -3'
Sequencing Primer
(F):5'- TCCGTCCCCAGAGAGTACAG -3'
(R):5'- tcctcttcctcctcttcctc -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation