Incidental Mutation 'IGL01383:Iqca1l'
ID |
78938 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
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 # |
IGL01383
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
24748432-24760467 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 24753292 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 453
(N453K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000085642
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088302]
[ENSMUST00000198887]
[ENSMUST00000200634]
|
AlphaFold |
A6H690 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000088302
AA Change: N453K
PolyPhen 2
Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000085642 Gene: ENSMUSG00000038199 AA Change: N453K
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 |
noncoding transcript
Transcript: ENSMUST00000198709
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000198887
|
SMART Domains |
Protein: ENSMUSP00000142918 Gene: ENSMUSG00000038199
Domain | Start | End | E-Value | Type |
low complexity region
|
46 |
54 |
N/A |
INTRINSIC |
low complexity region
|
70 |
77 |
N/A |
INTRINSIC |
|
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 |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930555G01Rik |
C |
A |
14: 5,051,570 (GRCm38) |
|
probably null |
Het |
Abca9 |
A |
C |
11: 110,004,119 (GRCm39) |
|
probably benign |
Het |
Aox1 |
T |
A |
1: 58,333,464 (GRCm39) |
M227K |
probably benign |
Het |
Asb5 |
T |
A |
8: 55,003,544 (GRCm39) |
L22H |
probably damaging |
Het |
Atrx |
T |
C |
X: 104,845,681 (GRCm39) |
D2309G |
probably damaging |
Het |
Cand1 |
T |
A |
10: 119,044,072 (GRCm39) |
T1074S |
probably damaging |
Het |
Cep97 |
T |
C |
16: 55,731,970 (GRCm39) |
E534G |
probably damaging |
Het |
Cftr |
C |
A |
6: 18,226,040 (GRCm39) |
N329K |
probably benign |
Het |
Clec7a |
T |
C |
6: 129,449,603 (GRCm39) |
T16A |
probably damaging |
Het |
Col1a1 |
G |
A |
11: 94,836,351 (GRCm39) |
R674H |
probably damaging |
Het |
Csf2rb2 |
T |
C |
15: 78,181,243 (GRCm39) |
S50G |
possibly damaging |
Het |
Eepd1 |
A |
G |
9: 25,393,778 (GRCm39) |
D14G |
probably damaging |
Het |
Fsd1 |
C |
T |
17: 56,303,733 (GRCm39) |
S491F |
probably damaging |
Het |
Grin1 |
C |
A |
2: 25,186,979 (GRCm39) |
R694L |
possibly damaging |
Het |
Gtf3c1 |
A |
G |
7: 125,298,672 (GRCm39) |
I151T |
probably damaging |
Het |
Havcr2 |
T |
C |
11: 46,360,375 (GRCm39) |
S152P |
probably damaging |
Het |
Hvcn1 |
T |
C |
5: 122,375,766 (GRCm39) |
V15A |
probably damaging |
Het |
Map3k10 |
C |
T |
7: 27,357,424 (GRCm39) |
V785M |
probably benign |
Het |
Mis18bp1 |
T |
C |
12: 65,195,763 (GRCm39) |
N667S |
probably benign |
Het |
Mup3 |
A |
C |
4: 62,004,196 (GRCm39) |
Y106D |
probably damaging |
Het |
Mypn |
G |
T |
10: 62,971,576 (GRCm39) |
N821K |
probably damaging |
Het |
Odad1 |
T |
C |
7: 45,589,124 (GRCm39) |
S179P |
probably damaging |
Het |
Or2y1c |
T |
A |
11: 49,361,880 (GRCm39) |
W301R |
probably benign |
Het |
Or52b4 |
A |
G |
7: 102,184,140 (GRCm39) |
Y62C |
probably benign |
Het |
Or5ac25 |
A |
T |
16: 59,182,316 (GRCm39) |
N88K |
probably benign |
Het |
Or5i1 |
A |
G |
2: 87,613,217 (GRCm39) |
D111G |
possibly damaging |
Het |
Pcdhb10 |
A |
T |
18: 37,546,328 (GRCm39) |
H468L |
probably benign |
Het |
Pramel27 |
T |
G |
4: 143,573,102 (GRCm39) |
|
probably benign |
Het |
Prp2 |
C |
A |
6: 132,576,841 (GRCm39) |
P43T |
unknown |
Het |
Psg26 |
A |
G |
7: 18,214,179 (GRCm39) |
V161A |
possibly damaging |
Het |
Rab17 |
T |
G |
1: 90,887,815 (GRCm39) |
D115A |
probably damaging |
Het |
Rrp1b |
T |
C |
17: 32,277,552 (GRCm39) |
F611L |
probably damaging |
Het |
Skor1 |
T |
A |
9: 63,053,838 (GRCm39) |
T44S |
probably benign |
Het |
Spaca5 |
T |
C |
X: 20,934,725 (GRCm39) |
|
probably benign |
Het |
Tatdn3 |
G |
A |
1: 190,787,578 (GRCm39) |
|
probably benign |
Het |
Tbk1 |
T |
C |
10: 121,412,184 (GRCm39) |
D118G |
probably damaging |
Het |
Tnfsf13b |
T |
C |
8: 10,081,528 (GRCm39) |
F230S |
probably damaging |
Het |
Tnrc6c |
T |
C |
11: 117,605,083 (GRCm39) |
S73P |
probably benign |
Het |
Vmn2r109 |
A |
G |
17: 20,761,383 (GRCm39) |
V658A |
possibly damaging |
Het |
Vmn2r116 |
C |
T |
17: 23,620,575 (GRCm39) |
L770F |
probably damaging |
Het |
Wwp2 |
T |
A |
8: 108,259,923 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Iqca1l |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
|
|
Posted On |
2013-11-05 |