Incidental Mutation 'R1344:Iqca1'
ID |
200692 |
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 |
039409-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1344 (G1)
|
Quality Score |
160 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
89969854-90081123 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 90070453 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Valine
at position 133
(G133V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000108717
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113094]
[ENSMUST00000113094]
[ENSMUST00000212394]
[ENSMUST00000212394]
|
AlphaFold |
Q9CUL5 |
Predicted Effect |
probably null
Transcript: ENSMUST00000113094
AA Change: G133V
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000108717 Gene: ENSMUSG00000026301 AA Change: G133V
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 null
Transcript: ENSMUST00000113094
AA Change: G133V
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000108717 Gene: ENSMUSG00000026301 AA Change: G133V
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 |
noncoding transcript
Transcript: ENSMUST00000186522
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211999
|
Predicted Effect |
probably null
Transcript: ENSMUST00000212394
AA Change: G133V
PolyPhen 2
Score 0.071 (Sensitivity: 0.94; Specificity: 0.84)
|
Predicted Effect |
probably null
Transcript: ENSMUST00000212394
AA Change: G133V
PolyPhen 2
Score 0.071 (Sensitivity: 0.94; Specificity: 0.84)
|
Meta Mutation Damage Score |
0.1927 |
Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.8%
- 10x: 95.2%
- 20x: 92.2%
|
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: 79 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
5730596B20Rik |
T |
G |
6: 52,156,131 (GRCm39) |
|
probably benign |
Het |
Aco1 |
T |
C |
4: 40,179,008 (GRCm39) |
Y336H |
probably damaging |
Het |
Adamts12 |
T |
A |
15: 11,286,890 (GRCm39) |
W832R |
probably damaging |
Het |
Asxl2 |
A |
G |
12: 3,543,790 (GRCm39) |
K320E |
probably damaging |
Het |
Atrnl1 |
G |
A |
19: 57,924,137 (GRCm39) |
|
probably null |
Het |
B4galnt2 |
A |
C |
11: 95,760,181 (GRCm39) |
I282S |
probably benign |
Het |
Bcl2l13 |
T |
C |
6: 120,853,288 (GRCm39) |
I191T |
probably benign |
Het |
Bltp3a |
A |
G |
17: 28,113,551 (GRCm39) |
K1241R |
probably benign |
Het |
Cd101 |
A |
T |
3: 100,926,091 (GRCm39) |
Y209* |
probably null |
Het |
Cd109 |
A |
T |
9: 78,579,832 (GRCm39) |
|
probably null |
Het |
Cdc34 |
G |
A |
10: 79,521,134 (GRCm39) |
A128T |
probably damaging |
Het |
Cdk12 |
T |
A |
11: 98,132,611 (GRCm39) |
S1013R |
unknown |
Het |
Cntd1 |
T |
A |
11: 101,176,566 (GRCm39) |
L221Q |
possibly damaging |
Het |
Cntn4 |
G |
A |
6: 106,321,831 (GRCm39) |
|
probably null |
Het |
Col12a1 |
T |
A |
9: 79,606,837 (GRCm39) |
K529* |
probably null |
Het |
Col17a1 |
T |
A |
19: 47,659,944 (GRCm39) |
D336V |
probably damaging |
Het |
Creb3l4 |
A |
G |
3: 90,146,045 (GRCm39) |
I193T |
possibly damaging |
Het |
Cyp2d10 |
A |
T |
15: 82,290,106 (GRCm39) |
|
probably null |
Het |
Dcun1d3 |
A |
G |
7: 119,457,158 (GRCm39) |
F185L |
probably damaging |
Het |
Dlec1 |
G |
A |
9: 118,959,085 (GRCm39) |
E910K |
probably benign |
Het |
Dnajc19 |
T |
A |
3: 34,112,161 (GRCm39) |
N128I |
probably damaging |
Het |
Dusp1 |
A |
G |
17: 26,727,293 (GRCm39) |
V2A |
probably benign |
Het |
Eea1 |
G |
A |
10: 95,830,861 (GRCm39) |
|
probably null |
Het |
Elf1 |
T |
C |
14: 79,798,215 (GRCm39) |
V34A |
probably damaging |
Het |
Extl1 |
T |
C |
4: 134,086,552 (GRCm39) |
D501G |
probably damaging |
Het |
Fcgr2b |
T |
C |
1: 170,788,650 (GRCm39) |
Y319C |
probably damaging |
Het |
Fhip2a |
G |
A |
19: 57,359,594 (GRCm39) |
A45T |
possibly damaging |
Het |
Fxr2 |
A |
G |
11: 69,539,710 (GRCm39) |
H247R |
possibly damaging |
Het |
Gask1a |
A |
T |
9: 121,807,452 (GRCm39) |
H532L |
probably damaging |
Het |
Gfra1 |
A |
C |
19: 58,226,849 (GRCm39) |
S461A |
possibly damaging |
Het |
Gli2 |
T |
G |
1: 118,769,666 (GRCm39) |
I629L |
probably damaging |
Het |
Gpx3 |
G |
A |
11: 54,800,422 (GRCm39) |
V207I |
probably damaging |
Het |
Helz2 |
T |
C |
2: 180,879,389 (GRCm39) |
D743G |
possibly damaging |
Het |
Hormad2 |
A |
G |
11: 4,359,005 (GRCm39) |
|
probably null |
Het |
Ifitm1 |
C |
T |
7: 140,548,263 (GRCm39) |
T32M |
probably benign |
Het |
Lrit2 |
A |
G |
14: 36,790,513 (GRCm39) |
N64S |
probably benign |
Het |
Lsm14a |
A |
T |
7: 34,052,982 (GRCm39) |
D322E |
probably damaging |
Het |
Macf1 |
T |
G |
4: 123,327,246 (GRCm39) |
R4752S |
probably damaging |
Het |
Mark3 |
T |
C |
12: 111,594,271 (GRCm39) |
I307T |
possibly damaging |
Het |
Mpdz |
T |
A |
4: 81,226,556 (GRCm39) |
T1360S |
probably benign |
Het |
Mtif2 |
G |
A |
11: 29,495,002 (GRCm39) |
V701I |
probably benign |
Het |
Myh3 |
A |
G |
11: 66,983,158 (GRCm39) |
E895G |
probably benign |
Het |
Ncan |
A |
C |
8: 70,560,819 (GRCm39) |
I716R |
probably benign |
Het |
Ncor2 |
C |
T |
5: 125,102,510 (GRCm39) |
R1867K |
probably damaging |
Het |
Oas1d |
C |
T |
5: 121,052,959 (GRCm39) |
L5F |
probably damaging |
Het |
Or10s1 |
T |
A |
9: 39,985,768 (GRCm39) |
L59H |
probably damaging |
Het |
Or11h4b |
T |
A |
14: 50,918,315 (GRCm39) |
M259L |
probably benign |
Het |
Or13a17 |
T |
C |
7: 140,271,712 (GRCm39) |
V298A |
probably damaging |
Het |
Or3a4 |
A |
T |
11: 73,945,038 (GRCm39) |
C182* |
probably null |
Het |
Otog |
G |
T |
7: 45,924,039 (GRCm39) |
A1133S |
probably damaging |
Het |
Oxtr |
C |
T |
6: 112,454,138 (GRCm39) |
R42Q |
probably benign |
Het |
Pcdhb2 |
G |
A |
18: 37,428,710 (GRCm39) |
V228I |
possibly damaging |
Het |
Pdcd11 |
A |
G |
19: 47,118,516 (GRCm39) |
D1794G |
probably damaging |
Het |
Pde1c |
T |
C |
6: 56,338,752 (GRCm39) |
I27V |
probably benign |
Het |
Pde4d |
C |
A |
13: 110,086,921 (GRCm39) |
S609* |
probably null |
Het |
Piezo2 |
T |
A |
18: 63,154,325 (GRCm39) |
I2485F |
probably damaging |
Het |
Plekhd1 |
A |
G |
12: 80,739,659 (GRCm39) |
T3A |
probably benign |
Het |
Plscr1 |
C |
T |
9: 92,141,357 (GRCm39) |
T15I |
unknown |
Het |
Rd3 |
T |
C |
1: 191,717,262 (GRCm39) |
*106R |
probably null |
Het |
Rnf125 |
A |
G |
18: 21,114,288 (GRCm39) |
I97V |
possibly damaging |
Het |
Sec24b |
T |
C |
3: 129,801,072 (GRCm39) |
N408S |
probably damaging |
Het |
Sf3b3 |
G |
C |
8: 111,564,935 (GRCm39) |
A291G |
probably damaging |
Het |
Simc1 |
T |
C |
13: 54,698,292 (GRCm39) |
V403A |
probably damaging |
Het |
Slc38a9 |
T |
C |
13: 112,826,714 (GRCm39) |
C151R |
probably benign |
Het |
Slco1a8 |
A |
G |
6: 141,931,344 (GRCm39) |
S474P |
probably damaging |
Het |
Slitrk5 |
A |
G |
14: 111,917,821 (GRCm39) |
S482G |
probably benign |
Het |
Smyd1 |
G |
A |
6: 71,239,151 (GRCm39) |
T13I |
probably benign |
Het |
Speer4a3 |
T |
A |
5: 26,158,107 (GRCm39) |
T82S |
probably benign |
Het |
Stoml2 |
T |
A |
4: 43,028,197 (GRCm39) |
I344F |
probably benign |
Het |
Tet1 |
C |
T |
10: 62,650,300 (GRCm39) |
R1636H |
probably damaging |
Het |
Thap12 |
A |
G |
7: 98,366,037 (GRCm39) |
D735G |
probably damaging |
Het |
Tnip3 |
T |
C |
6: 65,574,413 (GRCm39) |
V88A |
probably benign |
Het |
Ttn |
A |
G |
2: 76,565,755 (GRCm39) |
V28199A |
possibly damaging |
Het |
Ube3b |
T |
C |
5: 114,556,636 (GRCm39) |
F989S |
probably damaging |
Het |
Ubox5 |
A |
G |
2: 130,442,210 (GRCm39) |
L159P |
probably damaging |
Het |
Uevld |
A |
T |
7: 46,587,758 (GRCm39) |
V314E |
possibly damaging |
Het |
Urb1 |
T |
C |
16: 90,566,354 (GRCm39) |
M1478V |
probably damaging |
Het |
Ust |
C |
A |
10: 8,173,954 (GRCm39) |
V184F |
possibly damaging |
Het |
Wdr95 |
G |
A |
5: 149,511,563 (GRCm39) |
C421Y |
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 |
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 |
R5733:Iqca1
|
UTSW |
1 |
89,998,257 (GRCm39) |
missense |
probably damaging |
0.97 |
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'- AGCCCAAACGTTCCTTAATCCTGTC -3'
(R):5'- TCTGAACTGACCTCCCAAGCTGAC -3'
Sequencing Primer
(F):5'- CTAGACCTCATAGAGCAAGCGTG -3'
(R):5'- ccacaaacacccttacccac -3'
|
Posted On |
2014-05-23 |