Incidental Mutation 'R5733:Iqca1'
ID |
451518 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Iqca1
|
Ensembl Gene |
ENSMUSG00000026301 |
Gene Name |
IQ motif containing with AAA domain 1 |
Synonyms |
4930465P12Rik, 4930585L22Rik, Iqca |
MMRRC Submission |
043193-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5733 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
89969854-90081123 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 89998257 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Lysine
at position 549
(T549K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000108717
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113094]
[ENSMUST00000212394]
|
AlphaFold |
Q9CUL5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000113094
AA Change: T549K
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000108717 Gene: ENSMUSG00000026301 AA Change: T549K
Domain | Start | End | E-Value | Type |
IQ
|
205 |
227 |
6.97e0 |
SMART |
coiled coil region
|
340 |
380 |
N/A |
INTRINSIC |
coiled coil region
|
425 |
450 |
N/A |
INTRINSIC |
low complexity region
|
464 |
487 |
N/A |
INTRINSIC |
AAA
|
567 |
706 |
1.08e-3 |
SMART |
low complexity region
|
812 |
829 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000189011
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189690
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000212394
AA Change: T572K
PolyPhen 2
Score 0.146 (Sensitivity: 0.92; Specificity: 0.87)
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 97.0%
- 20x: 95.0%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the ATPases Associated with diverse cellular Activities (AAA) superfamily. Members of this superfamily, found in all organisms, participate in a large number of cellular processes and contain the ATPase module consisting of an alpha-beta-alpha core domain and the Walker A and B motifs of the P-loop NTPases. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acox3 |
T |
A |
5: 35,762,543 (GRCm39) |
|
probably null |
Het |
Ahnak2 |
A |
T |
12: 112,742,100 (GRCm39) |
Y657* |
probably null |
Het |
Anxa3 |
T |
A |
5: 96,968,331 (GRCm39) |
I128N |
probably damaging |
Het |
Bsnd |
T |
C |
4: 106,345,198 (GRCm39) |
T83A |
probably benign |
Het |
Capn10 |
A |
G |
1: 92,871,635 (GRCm39) |
Y411C |
probably benign |
Het |
Capn3 |
G |
A |
2: 120,315,075 (GRCm39) |
W201* |
probably null |
Het |
Crtap |
T |
C |
9: 114,207,164 (GRCm39) |
T365A |
probably benign |
Het |
Daam1 |
A |
G |
12: 71,992,272 (GRCm39) |
D329G |
unknown |
Het |
Dmxl2 |
A |
T |
9: 54,283,550 (GRCm39) |
L2761Q |
possibly damaging |
Het |
Fcho2 |
A |
C |
13: 98,926,310 (GRCm39) |
V91G |
probably damaging |
Het |
Fen1 |
A |
T |
19: 10,178,022 (GRCm39) |
C141S |
possibly damaging |
Het |
Fkbp15 |
G |
C |
4: 62,225,166 (GRCm39) |
A831G |
probably benign |
Het |
Frmd4a |
A |
T |
2: 4,305,768 (GRCm39) |
R14S |
possibly damaging |
Het |
Fzr1 |
A |
G |
10: 81,206,160 (GRCm39) |
F176L |
possibly damaging |
Het |
Garem2 |
A |
G |
5: 30,321,336 (GRCm39) |
D565G |
probably damaging |
Het |
Garre1 |
A |
T |
7: 33,944,505 (GRCm39) |
S76T |
probably damaging |
Het |
Itgax |
T |
A |
7: 127,739,647 (GRCm39) |
S686R |
probably damaging |
Het |
Knop1 |
C |
A |
7: 118,445,305 (GRCm39) |
G220C |
probably damaging |
Het |
Lyzl1 |
T |
A |
18: 4,169,142 (GRCm39) |
C49S |
probably damaging |
Het |
Mpzl1 |
A |
T |
1: 165,433,180 (GRCm39) |
I157K |
probably benign |
Het |
Mrgprb2 |
T |
C |
7: 48,202,261 (GRCm39) |
I155V |
probably benign |
Het |
Mucl3 |
T |
C |
17: 35,949,102 (GRCm39) |
M166V |
probably benign |
Het |
Mvb12b |
T |
C |
2: 33,717,728 (GRCm39) |
T167A |
probably benign |
Het |
Myh3 |
A |
G |
11: 66,979,445 (GRCm39) |
N491S |
probably benign |
Het |
Myo5b |
A |
G |
18: 74,787,128 (GRCm39) |
D511G |
possibly damaging |
Het |
Or10ak8 |
C |
T |
4: 118,774,035 (GRCm39) |
V210I |
probably benign |
Het |
Or11h4 |
T |
C |
14: 50,974,509 (GRCm39) |
T37A |
probably benign |
Het |
Or6b1 |
C |
T |
6: 42,815,180 (GRCm39) |
R122C |
probably damaging |
Het |
Or8k21 |
T |
G |
2: 86,145,558 (GRCm39) |
Q24P |
probably damaging |
Het |
Ptcd1 |
A |
G |
5: 145,091,671 (GRCm39) |
M476T |
probably damaging |
Het |
Pum3 |
A |
G |
19: 27,398,695 (GRCm39) |
|
probably null |
Het |
Ranbp2 |
G |
A |
10: 58,321,658 (GRCm39) |
D2652N |
probably damaging |
Het |
Rassf1 |
T |
C |
9: 107,435,213 (GRCm39) |
V166A |
probably damaging |
Het |
Rictor |
A |
G |
15: 6,812,585 (GRCm39) |
H907R |
probably benign |
Het |
Rorb |
T |
C |
19: 18,965,471 (GRCm39) |
E6G |
probably damaging |
Het |
Serpina3f |
A |
T |
12: 104,183,182 (GRCm39) |
T15S |
possibly damaging |
Het |
Sorbs2 |
T |
C |
8: 46,212,226 (GRCm39) |
L100P |
probably damaging |
Het |
Sprr2k |
T |
C |
3: 92,340,655 (GRCm39) |
|
probably benign |
Het |
Srrm2 |
T |
A |
17: 24,040,360 (GRCm39) |
S2431T |
probably damaging |
Het |
Stox2 |
T |
A |
8: 47,866,172 (GRCm39) |
K57* |
probably null |
Het |
Ttc21a |
G |
A |
9: 119,770,327 (GRCm39) |
V133I |
probably benign |
Het |
Vasn |
T |
C |
16: 4,468,026 (GRCm39) |
Y658H |
possibly damaging |
Het |
Zfp251 |
A |
G |
15: 76,754,527 (GRCm39) |
Y35H |
probably damaging |
Het |
|
Other mutations in Iqca1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00966:Iqca1
|
APN |
1 |
89,973,379 (GRCm39) |
missense |
probably benign |
0.10 |
IGL01367:Iqca1
|
APN |
1 |
89,998,350 (GRCm39) |
splice site |
probably benign |
|
IGL01545:Iqca1
|
APN |
1 |
89,973,364 (GRCm39) |
missense |
probably benign |
|
IGL01797:Iqca1
|
APN |
1 |
90,072,541 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02098:Iqca1
|
APN |
1 |
89,975,663 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL02194:Iqca1
|
APN |
1 |
89,973,385 (GRCm39) |
missense |
probably benign |
0.16 |
IGL03230:Iqca1
|
APN |
1 |
90,072,724 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03259:Iqca1
|
APN |
1 |
89,980,156 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03372:Iqca1
|
APN |
1 |
90,072,691 (GRCm39) |
missense |
possibly damaging |
0.80 |
R0383:Iqca1
|
UTSW |
1 |
90,070,429 (GRCm39) |
missense |
probably damaging |
1.00 |
R0610:Iqca1
|
UTSW |
1 |
90,070,453 (GRCm39) |
missense |
probably null |
0.97 |
R0685:Iqca1
|
UTSW |
1 |
90,070,453 (GRCm39) |
missense |
probably null |
0.97 |
R0798:Iqca1
|
UTSW |
1 |
90,070,453 (GRCm39) |
missense |
probably null |
0.97 |
R0799:Iqca1
|
UTSW |
1 |
90,070,453 (GRCm39) |
missense |
probably null |
0.97 |
R0800:Iqca1
|
UTSW |
1 |
90,070,453 (GRCm39) |
missense |
probably null |
0.97 |
R0801:Iqca1
|
UTSW |
1 |
90,070,453 (GRCm39) |
missense |
probably null |
0.97 |
R0825:Iqca1
|
UTSW |
1 |
90,070,453 (GRCm39) |
missense |
probably null |
0.97 |
R0826:Iqca1
|
UTSW |
1 |
90,070,453 (GRCm39) |
missense |
probably null |
0.97 |
R0827:Iqca1
|
UTSW |
1 |
90,070,453 (GRCm39) |
missense |
probably null |
0.97 |
R0862:Iqca1
|
UTSW |
1 |
90,070,453 (GRCm39) |
missense |
probably null |
0.97 |
R0863:Iqca1
|
UTSW |
1 |
90,070,453 (GRCm39) |
missense |
probably null |
0.97 |
R0864:Iqca1
|
UTSW |
1 |
90,070,453 (GRCm39) |
missense |
probably null |
0.97 |
R0960:Iqca1
|
UTSW |
1 |
90,070,453 (GRCm39) |
missense |
probably null |
0.97 |
R0961:Iqca1
|
UTSW |
1 |
90,070,453 (GRCm39) |
missense |
probably null |
0.97 |
R0962:Iqca1
|
UTSW |
1 |
90,070,453 (GRCm39) |
missense |
probably null |
0.97 |
R0963:Iqca1
|
UTSW |
1 |
90,070,453 (GRCm39) |
missense |
probably null |
0.97 |
R1101:Iqca1
|
UTSW |
1 |
90,070,453 (GRCm39) |
missense |
probably null |
0.97 |
R1344:Iqca1
|
UTSW |
1 |
90,070,453 (GRCm39) |
missense |
probably null |
0.97 |
R1523:Iqca1
|
UTSW |
1 |
90,070,453 (GRCm39) |
missense |
probably null |
0.97 |
R1646:Iqca1
|
UTSW |
1 |
90,067,760 (GRCm39) |
missense |
probably damaging |
0.98 |
R1682:Iqca1
|
UTSW |
1 |
90,070,453 (GRCm39) |
missense |
probably null |
0.97 |
R1742:Iqca1
|
UTSW |
1 |
90,025,773 (GRCm39) |
missense |
probably benign |
0.01 |
R1774:Iqca1
|
UTSW |
1 |
90,008,625 (GRCm39) |
missense |
probably benign |
0.02 |
R1775:Iqca1
|
UTSW |
1 |
90,009,138 (GRCm39) |
missense |
probably damaging |
1.00 |
R2011:Iqca1
|
UTSW |
1 |
89,973,348 (GRCm39) |
missense |
probably benign |
0.00 |
R2065:Iqca1
|
UTSW |
1 |
90,057,953 (GRCm39) |
missense |
probably benign |
0.01 |
R2156:Iqca1
|
UTSW |
1 |
90,017,238 (GRCm39) |
missense |
possibly damaging |
0.78 |
R2186:Iqca1
|
UTSW |
1 |
90,009,066 (GRCm39) |
missense |
probably benign |
0.06 |
R3872:Iqca1
|
UTSW |
1 |
90,017,203 (GRCm39) |
missense |
probably damaging |
1.00 |
R4308:Iqca1
|
UTSW |
1 |
90,072,619 (GRCm39) |
missense |
probably damaging |
1.00 |
R4578:Iqca1
|
UTSW |
1 |
90,001,472 (GRCm39) |
missense |
probably damaging |
0.98 |
R4737:Iqca1
|
UTSW |
1 |
90,005,544 (GRCm39) |
missense |
probably damaging |
0.99 |
R4867:Iqca1
|
UTSW |
1 |
90,017,226 (GRCm39) |
missense |
probably benign |
0.00 |
R4884:Iqca1
|
UTSW |
1 |
90,067,759 (GRCm39) |
missense |
probably benign |
0.10 |
R4887:Iqca1
|
UTSW |
1 |
89,973,423 (GRCm39) |
missense |
probably damaging |
1.00 |
R5352:Iqca1
|
UTSW |
1 |
90,057,918 (GRCm39) |
missense |
probably benign |
0.00 |
R5838:Iqca1
|
UTSW |
1 |
90,072,667 (GRCm39) |
missense |
probably benign |
0.22 |
R5951:Iqca1
|
UTSW |
1 |
90,067,819 (GRCm39) |
splice site |
probably null |
|
R5957:Iqca1
|
UTSW |
1 |
90,008,670 (GRCm39) |
missense |
probably damaging |
1.00 |
R6696:Iqca1
|
UTSW |
1 |
90,057,922 (GRCm39) |
missense |
probably benign |
|
R7240:Iqca1
|
UTSW |
1 |
89,998,272 (GRCm39) |
missense |
possibly damaging |
0.88 |
R7769:Iqca1
|
UTSW |
1 |
90,005,532 (GRCm39) |
missense |
possibly damaging |
0.82 |
R7841:Iqca1
|
UTSW |
1 |
89,987,337 (GRCm39) |
missense |
|
|
R8069:Iqca1
|
UTSW |
1 |
89,973,466 (GRCm39) |
missense |
probably damaging |
0.96 |
R8103:Iqca1
|
UTSW |
1 |
89,987,330 (GRCm39) |
missense |
|
|
R8932:Iqca1
|
UTSW |
1 |
90,067,750 (GRCm39) |
missense |
probably damaging |
1.00 |
R8963:Iqca1
|
UTSW |
1 |
90,067,649 (GRCm39) |
missense |
probably benign |
0.02 |
R9055:Iqca1
|
UTSW |
1 |
89,998,335 (GRCm39) |
missense |
probably benign |
0.02 |
R9168:Iqca1
|
UTSW |
1 |
90,065,937 (GRCm39) |
missense |
probably damaging |
0.98 |
R9342:Iqca1
|
UTSW |
1 |
90,072,688 (GRCm39) |
missense |
probably damaging |
0.99 |
R9647:Iqca1
|
UTSW |
1 |
89,998,258 (GRCm39) |
missense |
probably benign |
0.15 |
Z1176:Iqca1
|
UTSW |
1 |
89,973,447 (GRCm39) |
missense |
probably benign |
0.26 |
|
Predicted Primers |
PCR Primer
(F):5'- AAGCTCTCTTCCCAGCATG -3'
(R):5'- GATGAGTAGGACTGACGTGC -3'
Sequencing Primer
(F):5'- AGCATGCCCTTCTCTGCTGG -3'
(R):5'- ATGGTAGCTCTTCCATGCTG -3'
|
Posted On |
2017-01-03 |