Incidental Mutation 'R4335:Iqca1l'
ID |
323732 |
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: 0.173)
|
Stock # |
R4335 (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: 98.7%
- 10x: 97.3%
- 20x: 95.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca9 |
G |
A |
11: 110,042,843 (GRCm39) |
T402M |
probably damaging |
Het |
Apbb1ip |
G |
A |
2: 22,761,574 (GRCm39) |
|
probably null |
Het |
Armh1 |
A |
T |
4: 117,071,660 (GRCm39) |
I308N |
probably damaging |
Het |
Ceacam5 |
G |
A |
7: 17,486,054 (GRCm39) |
R517Q |
probably benign |
Het |
Clic4 |
C |
T |
4: 134,945,916 (GRCm39) |
S167N |
probably benign |
Het |
Ehbp1l1 |
A |
T |
19: 5,758,797 (GRCm39) |
L1644Q |
probably damaging |
Het |
Erh |
A |
G |
12: 80,689,615 (GRCm39) |
L3P |
probably benign |
Het |
Fbxw7 |
T |
C |
3: 84,879,802 (GRCm39) |
C375R |
probably damaging |
Het |
Fhdc1 |
C |
A |
3: 84,352,133 (GRCm39) |
V1031F |
probably benign |
Het |
Fsd2 |
A |
T |
7: 81,191,813 (GRCm39) |
S521R |
probably damaging |
Het |
Garin2 |
T |
C |
12: 78,759,006 (GRCm39) |
S109P |
possibly damaging |
Het |
Hace1 |
A |
G |
10: 45,586,057 (GRCm39) |
Y865C |
probably damaging |
Het |
Iqcf1 |
G |
A |
9: 106,379,072 (GRCm39) |
R62H |
possibly damaging |
Het |
Kcnv1 |
G |
A |
15: 44,977,840 (GRCm39) |
T66M |
probably damaging |
Het |
Leng8 |
T |
C |
7: 4,150,037 (GRCm39) |
Y781H |
probably damaging |
Het |
Med8 |
G |
T |
4: 118,266,567 (GRCm39) |
|
probably null |
Het |
Myo19 |
G |
A |
11: 84,799,114 (GRCm39) |
A816T |
probably benign |
Het |
Nat8f2 |
A |
G |
6: 85,845,233 (GRCm39) |
L43P |
probably damaging |
Het |
Omd |
A |
C |
13: 49,743,712 (GRCm39) |
D254A |
probably benign |
Het |
Psd2 |
G |
T |
18: 36,140,583 (GRCm39) |
A622S |
probably damaging |
Het |
Rnf207 |
G |
A |
4: 152,400,062 (GRCm39) |
|
probably benign |
Het |
Rsbn1l |
T |
C |
5: 21,113,191 (GRCm39) |
I444V |
probably null |
Het |
Rxfp1 |
A |
G |
3: 79,594,105 (GRCm39) |
|
probably null |
Het |
Selenot |
C |
A |
3: 58,492,722 (GRCm39) |
R70S |
possibly damaging |
Het |
Sox6 |
A |
G |
7: 115,111,959 (GRCm39) |
S557P |
probably benign |
Het |
Sp9 |
G |
A |
2: 73,104,633 (GRCm39) |
V396M |
probably damaging |
Het |
Ston1 |
T |
C |
17: 88,943,125 (GRCm39) |
F177S |
probably damaging |
Het |
Syne2 |
A |
G |
12: 76,074,866 (GRCm39) |
E4602G |
probably damaging |
Het |
Tbc1d19 |
A |
G |
5: 54,029,619 (GRCm39) |
T327A |
possibly damaging |
Het |
Tsga13 |
T |
C |
6: 30,876,980 (GRCm39) |
D179G |
probably damaging |
Het |
Wdr27 |
T |
A |
17: 15,141,018 (GRCm39) |
|
probably null |
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 |
|
R4333: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'- TGGACACTGAGCATGTAACTAGAAG -3'
Sequencing Primer
(F):5'- GCAACCAGTGGCTTCTTGATAAG -3'
(R):5'- CTGGAACTCACTTTGTAGACCAGG -3'
|
Posted On |
2015-06-24 |