Incidental Mutation 'R0685:Iqca1'
ID |
218470 |
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 |
038870-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0685 (G1)
|
Quality Score |
36 |
Status
|
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: 99.4%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 95.6%
|
Validation Efficiency |
98% (89/91) |
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: 80 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700020N01Rik |
A |
G |
10: 21,469,337 (GRCm39) |
D17G |
probably damaging |
Het |
Abi3bp |
A |
G |
16: 56,353,316 (GRCm39) |
T82A |
possibly damaging |
Het |
Adgre4 |
A |
C |
17: 56,099,035 (GRCm39) |
E180D |
probably benign |
Het |
Ankrd28 |
G |
A |
14: 31,465,407 (GRCm39) |
|
probably benign |
Het |
Aoc3 |
A |
G |
11: 101,227,273 (GRCm39) |
D382G |
possibly damaging |
Het |
Apob |
C |
A |
12: 8,060,742 (GRCm39) |
R3075S |
probably benign |
Het |
Aqr |
A |
G |
2: 113,971,458 (GRCm39) |
F459S |
probably damaging |
Het |
Bcr |
T |
C |
10: 74,967,475 (GRCm39) |
W570R |
probably damaging |
Het |
Bloc1s5 |
C |
T |
13: 38,787,895 (GRCm39) |
R163K |
probably benign |
Het |
Bod1 |
A |
T |
11: 31,619,267 (GRCm39) |
N101K |
possibly damaging |
Het |
Bysl |
A |
T |
17: 47,913,396 (GRCm39) |
S296T |
probably benign |
Het |
Chl1 |
G |
A |
6: 103,685,503 (GRCm39) |
|
probably null |
Het |
Clstn1 |
G |
A |
4: 149,731,312 (GRCm39) |
A885T |
probably benign |
Het |
Cyp3a25 |
G |
T |
5: 145,935,356 (GRCm39) |
P87T |
probably damaging |
Het |
Dync1h1 |
T |
C |
12: 110,623,626 (GRCm39) |
V3633A |
probably damaging |
Het |
Dynlt5 |
T |
C |
4: 102,859,735 (GRCm39) |
Y96H |
probably damaging |
Het |
Elp4 |
C |
A |
2: 105,622,622 (GRCm39) |
C241F |
possibly damaging |
Het |
Fat4 |
T |
A |
3: 39,055,327 (GRCm39) |
F4182Y |
probably benign |
Het |
Gabbr2 |
G |
A |
4: 46,787,521 (GRCm39) |
H381Y |
possibly damaging |
Het |
Gm10577 |
G |
T |
4: 100,877,515 (GRCm39) |
|
probably benign |
Het |
Gm9955 |
G |
T |
18: 24,842,314 (GRCm39) |
|
probably benign |
Het |
Gstm5 |
T |
A |
3: 107,804,635 (GRCm39) |
I73N |
probably damaging |
Het |
Gypa |
T |
A |
8: 81,223,331 (GRCm39) |
|
probably benign |
Het |
Hectd2 |
T |
A |
19: 36,546,831 (GRCm39) |
V64D |
probably damaging |
Het |
Igkv10-95 |
T |
A |
6: 68,657,543 (GRCm39) |
Y20N |
probably benign |
Het |
Il15 |
T |
C |
8: 83,064,188 (GRCm39) |
|
probably benign |
Het |
Kiz |
C |
A |
2: 146,697,978 (GRCm39) |
|
probably benign |
Het |
Lcmt2 |
C |
A |
2: 120,969,721 (GRCm39) |
S234I |
probably benign |
Het |
Lilra5 |
A |
G |
7: 4,244,956 (GRCm39) |
|
probably benign |
Het |
Lin37 |
T |
C |
7: 30,255,299 (GRCm39) |
E187G |
probably damaging |
Het |
Lrrc37 |
T |
C |
11: 103,507,714 (GRCm39) |
|
probably benign |
Het |
Mcmdc2 |
T |
A |
1: 9,982,039 (GRCm39) |
|
probably null |
Het |
Mctp1 |
T |
C |
13: 76,973,918 (GRCm39) |
|
probably null |
Het |
Mdp1 |
C |
A |
14: 55,896,726 (GRCm39) |
G112* |
probably null |
Het |
Mmp15 |
T |
C |
8: 96,098,762 (GRCm39) |
Y530H |
possibly damaging |
Het |
Mtss2 |
T |
C |
8: 111,454,029 (GRCm39) |
|
probably null |
Het |
Muc5ac |
T |
C |
7: 141,361,446 (GRCm39) |
S1586P |
probably benign |
Het |
Nap1l5 |
A |
T |
6: 58,883,757 (GRCm39) |
C66S |
possibly damaging |
Het |
Ninl |
G |
T |
2: 150,781,775 (GRCm39) |
Q1237K |
possibly damaging |
Het |
Or5p70 |
A |
T |
7: 107,994,470 (GRCm39) |
T48S |
possibly damaging |
Het |
Or9m1b |
T |
C |
2: 87,836,762 (GRCm39) |
E111G |
probably damaging |
Het |
Orc6 |
T |
G |
8: 86,027,783 (GRCm39) |
S37R |
possibly damaging |
Het |
Papss1 |
A |
C |
3: 131,288,854 (GRCm39) |
N119H |
possibly damaging |
Het |
Phf13 |
A |
T |
4: 152,076,069 (GRCm39) |
F278I |
probably damaging |
Het |
Pole2 |
C |
A |
12: 69,258,187 (GRCm39) |
A239S |
probably damaging |
Het |
Ppt2 |
T |
C |
17: 34,845,546 (GRCm39) |
D75G |
probably damaging |
Het |
Psd2 |
A |
G |
18: 36,136,044 (GRCm39) |
D443G |
possibly damaging |
Het |
Psen1 |
C |
A |
12: 83,761,594 (GRCm39) |
S132* |
probably null |
Het |
Psme4 |
A |
G |
11: 30,828,415 (GRCm39) |
T1812A |
probably damaging |
Het |
Rasgrf1 |
T |
C |
9: 89,797,535 (GRCm39) |
|
probably benign |
Het |
Reep3 |
A |
G |
10: 66,857,518 (GRCm39) |
|
probably benign |
Het |
Rexo4 |
A |
T |
2: 26,848,586 (GRCm39) |
|
probably benign |
Het |
Rnf6 |
A |
C |
5: 146,148,468 (GRCm39) |
S183R |
probably damaging |
Het |
Scai |
A |
T |
2: 38,993,749 (GRCm39) |
M297K |
probably damaging |
Het |
Scn9a |
A |
T |
2: 66,313,843 (GRCm39) |
S1947R |
probably benign |
Het |
Sema6c |
T |
C |
3: 95,080,021 (GRCm39) |
C772R |
possibly damaging |
Het |
Skint7 |
T |
C |
4: 111,837,542 (GRCm39) |
S107P |
possibly damaging |
Het |
Slc24a3 |
A |
G |
2: 145,448,715 (GRCm39) |
N420D |
probably benign |
Het |
Smc1b |
T |
C |
15: 84,955,021 (GRCm39) |
D1077G |
possibly damaging |
Het |
Smg7 |
G |
A |
1: 152,742,399 (GRCm39) |
P82L |
probably damaging |
Het |
Sp3 |
A |
C |
2: 72,801,342 (GRCm39) |
F268V |
probably damaging |
Het |
Srms |
T |
C |
2: 180,854,426 (GRCm39) |
D47G |
probably benign |
Het |
Ss18 |
A |
C |
18: 14,784,238 (GRCm39) |
M150R |
probably damaging |
Het |
Taf5 |
G |
A |
19: 47,063,293 (GRCm39) |
R281Q |
probably benign |
Het |
Tars1 |
T |
C |
15: 11,385,259 (GRCm39) |
K644R |
probably benign |
Het |
Tinag |
C |
A |
9: 76,859,285 (GRCm39) |
W441L |
probably damaging |
Het |
Tmtc1 |
T |
C |
6: 148,312,738 (GRCm39) |
S244G |
probably benign |
Het |
Tpr |
T |
C |
1: 150,309,476 (GRCm39) |
V1670A |
possibly damaging |
Het |
Trpv3 |
A |
G |
11: 73,187,640 (GRCm39) |
|
probably benign |
Het |
Uhrf1 |
G |
T |
17: 56,617,742 (GRCm39) |
V155L |
probably damaging |
Het |
Ush2a |
G |
A |
1: 188,132,475 (GRCm39) |
C899Y |
probably damaging |
Het |
Vmn2r115 |
G |
A |
17: 23,578,249 (GRCm39) |
R574H |
probably benign |
Het |
Vmn2r63 |
T |
C |
7: 42,577,434 (GRCm39) |
D368G |
probably benign |
Het |
Vps13a |
A |
G |
19: 16,758,105 (GRCm39) |
V10A |
probably damaging |
Het |
Wbp11 |
A |
G |
6: 136,791,636 (GRCm39) |
|
probably benign |
Het |
Zcwpw1 |
A |
G |
5: 137,797,854 (GRCm39) |
D145G |
probably benign |
Het |
Zfp607a |
G |
A |
7: 27,577,901 (GRCm39) |
V324I |
probably damaging |
Het |
Zfp618 |
A |
G |
4: 63,052,011 (GRCm39) |
I931V |
probably benign |
Het |
Zfp821 |
T |
C |
8: 110,451,174 (GRCm39) |
V389A |
possibly damaging |
Het |
Zfp976 |
T |
A |
7: 42,263,141 (GRCm39) |
H232L |
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 |
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 |
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'- AGAGCCCAAACGTTCCTTAATCCTG -3'
(R):5'- TCTGAACTGACCTCCCAAGCTGAC -3'
Sequencing Primer
(F):5'- CTAGACCTCATAGAGCAAGCGTG -3'
(R):5'- ccacaaacacccttacccac -3'
|
Posted On |
2014-08-11 |