Incidental Mutation 'R4333:Iqca1l'
| ID |
323660 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Iqca1l
|
| Ensembl Gene |
ENSMUSG00000038199 |
| Gene Name |
IQ motif containing with AAA domain 1 like |
| Synonyms |
4931409K22Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.138)
|
| Stock # |
R4333 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
24748432-24760467 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 24749368 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 710
(L710P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000085642
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048302]
[ENSMUST00000088302]
[ENSMUST00000117900]
[ENSMUST00000119657]
[ENSMUST00000200634]
|
| AlphaFold |
A6H690 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000048302
|
| SMART Domains |
Protein: ENSMUSP00000041539
Gene: ENSMUSG00000038204
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
115 |
144 |
2.62e-4 |
SMART |
|
ANK
|
147 |
176 |
3.51e-5 |
SMART |
|
ANK
|
180 |
209 |
7.99e2 |
SMART |
|
ANK
|
214 |
243 |
1.44e-1 |
SMART |
|
ANK
|
247 |
289 |
2.39e2 |
SMART |
|
ANK
|
293 |
322 |
3.01e-4 |
SMART |
|
ANK
|
326 |
362 |
1.46e2 |
SMART |
|
SOCS_box
|
422 |
461 |
6.77e-8 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000088302
AA Change: L710P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000085642
Gene: ENSMUSG00000038199
AA Change: L710P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
46 |
54 |
N/A |
INTRINSIC |
|
low complexity region
|
70 |
77 |
N/A |
INTRINSIC |
|
low complexity region
|
184 |
198 |
N/A |
INTRINSIC |
|
IQ
|
205 |
227 |
7.58e-2 |
SMART |
|
coiled coil region
|
335 |
382 |
N/A |
INTRINSIC |
|
coiled coil region
|
429 |
450 |
N/A |
INTRINSIC |
|
low complexity region
|
467 |
484 |
N/A |
INTRINSIC |
|
Pfam:AAA
|
568 |
700 |
1.6e-14 |
PFAM |
|
low complexity region
|
819 |
825 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000117900
|
| SMART Domains |
Protein: ENSMUSP00000112743
Gene: ENSMUSG00000038204
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
100 |
129 |
2.62e-4 |
SMART |
|
ANK
|
132 |
161 |
3.51e-5 |
SMART |
|
ANK
|
165 |
194 |
7.99e2 |
SMART |
|
ANK
|
199 |
228 |
1.44e-1 |
SMART |
|
ANK
|
232 |
274 |
2.39e2 |
SMART |
|
ANK
|
278 |
307 |
3.01e-4 |
SMART |
|
ANK
|
311 |
347 |
1.46e2 |
SMART |
|
SOCS_box
|
407 |
446 |
6.77e-8 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000119657
|
| SMART Domains |
Protein: ENSMUSP00000113328
Gene: ENSMUSG00000038204
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
115 |
144 |
2.62e-4 |
SMART |
|
ANK
|
147 |
176 |
3.51e-5 |
SMART |
|
ANK
|
180 |
209 |
7.99e2 |
SMART |
|
ANK
|
214 |
243 |
1.44e-1 |
SMART |
|
ANK
|
247 |
289 |
2.39e2 |
SMART |
|
ANK
|
293 |
322 |
3.01e-4 |
SMART |
|
ANK
|
326 |
362 |
1.46e2 |
SMART |
|
SOCS_box
|
384 |
423 |
6.77e-8 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199185
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200634
|
| SMART Domains |
Protein: ENSMUSP00000142624
Gene: ENSMUSG00000038199
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
46 |
54 |
N/A |
INTRINSIC |
|
low complexity region
|
70 |
77 |
N/A |
INTRINSIC |
|
low complexity region
|
184 |
198 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 95.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgb |
C |
T |
10: 10,318,246 (GRCm39) |
V193I |
possibly damaging |
Het |
| Cadps |
C |
T |
14: 12,467,031 (GRCm38) |
R967H |
probably damaging |
Het |
| Cwh43 |
A |
G |
5: 73,598,722 (GRCm39) |
D647G |
probably damaging |
Het |
| Dab2ip |
T |
A |
2: 35,551,632 (GRCm39) |
*164R |
probably null |
Het |
| Ddx18 |
A |
T |
1: 121,492,331 (GRCm39) |
D125E |
probably benign |
Het |
| Fbxw7 |
T |
C |
3: 84,879,802 (GRCm39) |
C375R |
probably damaging |
Het |
| Khnyn |
A |
G |
14: 56,131,499 (GRCm39) |
D536G |
probably damaging |
Het |
| Lamp3 |
T |
C |
16: 19,492,186 (GRCm39) |
I353V |
probably benign |
Het |
| Med13 |
A |
G |
11: 86,179,009 (GRCm39) |
F1429S |
probably benign |
Het |
| Mybl1 |
T |
C |
1: 9,742,523 (GRCm39) |
K621E |
probably damaging |
Het |
| Myo19 |
G |
A |
11: 84,799,114 (GRCm39) |
A816T |
probably benign |
Het |
| Or10d1c |
A |
G |
9: 38,893,884 (GRCm39) |
I152T |
possibly damaging |
Het |
| Or51h7 |
A |
T |
7: 102,591,176 (GRCm39) |
L203I |
possibly damaging |
Het |
| Rnf2 |
T |
C |
1: 151,348,827 (GRCm39) |
T98A |
possibly damaging |
Het |
| Samm50 |
A |
G |
15: 84,087,031 (GRCm39) |
K280R |
probably benign |
Het |
| Satb2 |
T |
C |
1: 56,884,745 (GRCm39) |
N511S |
probably damaging |
Het |
| Tbc1d19 |
A |
G |
5: 54,029,619 (GRCm39) |
T327A |
possibly damaging |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Vmn2r7 |
T |
C |
3: 64,598,199 (GRCm39) |
N786S |
probably damaging |
Het |
|
| Other mutations in Iqca1l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01383:Iqca1l
|
APN |
5 |
24,753,292 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02110:Iqca1l
|
APN |
5 |
24,753,082 (GRCm39) |
splice site |
probably benign |
|
|
R0329:Iqca1l
|
UTSW |
5 |
24,750,783 (GRCm39) |
splice site |
probably null |
|
|
R0492:Iqca1l
|
UTSW |
5 |
24,759,626 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0585:Iqca1l
|
UTSW |
5 |
24,755,721 (GRCm39) |
missense |
probably benign |
|
|
R0656:Iqca1l
|
UTSW |
5 |
24,754,760 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R0894:Iqca1l
|
UTSW |
5 |
24,755,731 (GRCm39) |
splice site |
probably null |
|
|
R1546:Iqca1l
|
UTSW |
5 |
24,760,426 (GRCm39) |
splice site |
probably null |
|
|
R1642:Iqca1l
|
UTSW |
5 |
24,757,686 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1998:Iqca1l
|
UTSW |
5 |
24,750,004 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2090:Iqca1l
|
UTSW |
5 |
24,755,674 (GRCm39) |
missense |
probably benign |
0.15 |
|
R2186:Iqca1l
|
UTSW |
5 |
24,759,524 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2237:Iqca1l
|
UTSW |
5 |
24,753,292 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2256:Iqca1l
|
UTSW |
5 |
24,757,038 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R2257:Iqca1l
|
UTSW |
5 |
24,757,038 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R3078:Iqca1l
|
UTSW |
5 |
24,751,664 (GRCm39) |
missense |
probably benign |
|
|
R3522:Iqca1l
|
UTSW |
5 |
24,754,624 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3910:Iqca1l
|
UTSW |
5 |
24,750,440 (GRCm39) |
splice site |
probably benign |
|
|
R3911:Iqca1l
|
UTSW |
5 |
24,750,440 (GRCm39) |
splice site |
probably benign |
|
|
R4335:Iqca1l
|
UTSW |
5 |
24,749,368 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4500:Iqca1l
|
UTSW |
5 |
24,753,275 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R4761:Iqca1l
|
UTSW |
5 |
24,756,981 (GRCm39) |
missense |
probably benign |
|
|
R4773:Iqca1l
|
UTSW |
5 |
24,755,596 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4880:Iqca1l
|
UTSW |
5 |
24,754,750 (GRCm39) |
missense |
probably benign |
|
|
R5614:Iqca1l
|
UTSW |
5 |
24,755,140 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5839:Iqca1l
|
UTSW |
5 |
24,757,024 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5847:Iqca1l
|
UTSW |
5 |
24,749,164 (GRCm39) |
missense |
probably benign |
0.16 |
|
R7061:Iqca1l
|
UTSW |
5 |
24,750,063 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7131:Iqca1l
|
UTSW |
5 |
24,753,954 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R7156:Iqca1l
|
UTSW |
5 |
24,757,648 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7248:Iqca1l
|
UTSW |
5 |
24,749,269 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7480:Iqca1l
|
UTSW |
5 |
24,751,904 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7693:Iqca1l
|
UTSW |
5 |
24,751,626 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7782:Iqca1l
|
UTSW |
5 |
24,749,224 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7814:Iqca1l
|
UTSW |
5 |
24,750,420 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7898:Iqca1l
|
UTSW |
5 |
24,758,643 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8024:Iqca1l
|
UTSW |
5 |
24,755,634 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R8172:Iqca1l
|
UTSW |
5 |
24,748,608 (GRCm39) |
missense |
probably benign |
|
|
R8281:Iqca1l
|
UTSW |
5 |
24,754,008 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8511:Iqca1l
|
UTSW |
5 |
24,750,906 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8888:Iqca1l
|
UTSW |
5 |
24,755,628 (GRCm39) |
missense |
probably benign |
0.20 |
|
R8895:Iqca1l
|
UTSW |
5 |
24,755,628 (GRCm39) |
missense |
probably benign |
0.20 |
|
R9246:Iqca1l
|
UTSW |
5 |
24,753,969 (GRCm39) |
missense |
probably benign |
0.22 |
|
R9450:Iqca1l
|
UTSW |
5 |
24,754,447 (GRCm39) |
missense |
probably benign |
0.13 |
|
X0063:Iqca1l
|
UTSW |
5 |
24,754,763 (GRCm39) |
splice site |
probably null |
|
|
Z1177:Iqca1l
|
UTSW |
5 |
24,755,793 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AACTCAGAGGCAACCAGTGG -3'
(R):5'- ACACTGAGCATGTAACTAGAAGAAC -3'
Sequencing Primer
(F):5'- GCAACCAGTGGCTTCTTGATAAG -3'
(R):5'- CTGGAACTCACTTTGTAGACCAGG -3'
|
| Posted On |
2015-06-24 |
Incidental Mutation