Incidental Mutation 'R7841:Iqca1'
| ID |
606268 |
| 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 |
045895-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7841 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
89969854-90081123 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 89987337 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 72
(C72S)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113094]
[ENSMUST00000212394]
|
| AlphaFold |
Q9CUL5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113094
|
| SMART Domains |
Protein: ENSMUSP00000108717
Gene: ENSMUSG00000026301
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212394
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700016H13Rik |
T |
C |
5: 103,802,806 (GRCm39) |
K16R |
possibly damaging |
Het |
| 2810408A11Rik |
A |
G |
11: 69,790,112 (GRCm39) |
F210L |
probably benign |
Het |
| Adam6a |
G |
T |
12: 113,509,078 (GRCm39) |
D484Y |
probably damaging |
Het |
| B9d1 |
A |
G |
11: 61,397,192 (GRCm39) |
Y29C |
possibly damaging |
Het |
| Cald1 |
T |
C |
6: 34,722,696 (GRCm39) |
F115L |
unknown |
Het |
| Ccnd1 |
A |
T |
7: 144,491,718 (GRCm39) |
M107K |
probably damaging |
Het |
| Ccnh |
G |
A |
13: 85,337,712 (GRCm39) |
A20T |
probably benign |
Het |
| Cep162 |
T |
C |
9: 87,126,369 (GRCm39) |
D181G |
probably benign |
Het |
| Cep44 |
AACGC |
A |
8: 56,994,018 (GRCm39) |
|
probably null |
Het |
| Ces2b |
A |
G |
8: 105,561,692 (GRCm39) |
D262G |
probably benign |
Het |
| Cic |
A |
G |
7: 24,985,192 (GRCm39) |
Y1146C |
probably damaging |
Het |
| Cmtm1 |
G |
A |
8: 105,036,108 (GRCm39) |
R174C |
possibly damaging |
Het |
| Cobl |
G |
T |
11: 12,203,324 (GRCm39) |
P1126H |
probably damaging |
Het |
| Col14a1 |
T |
A |
15: 55,245,876 (GRCm39) |
M460K |
unknown |
Het |
| Cst11 |
G |
A |
2: 148,613,227 (GRCm39) |
R33W |
possibly damaging |
Het |
| Cyp19a1 |
A |
T |
9: 54,079,089 (GRCm39) |
V340E |
probably benign |
Het |
| Dbt |
A |
T |
3: 116,339,746 (GRCm39) |
Q378L |
possibly damaging |
Het |
| Dchs1 |
A |
G |
7: 105,412,180 (GRCm39) |
V1312A |
probably benign |
Het |
| Eif3l |
T |
C |
15: 78,973,779 (GRCm39) |
M398T |
probably benign |
Het |
| Faxc |
A |
G |
4: 21,958,584 (GRCm39) |
H247R |
probably benign |
Het |
| Fbxl17 |
T |
C |
17: 63,794,820 (GRCm39) |
R421G |
probably damaging |
Het |
| Fbxo3 |
T |
A |
2: 103,890,337 (GRCm39) |
D450E |
unknown |
Het |
| Fmn1 |
T |
C |
2: 113,359,810 (GRCm39) |
|
probably null |
Het |
| Foxs1 |
T |
A |
2: 152,774,907 (GRCm39) |
M49L |
possibly damaging |
Het |
| Gucy1a2 |
A |
G |
9: 3,634,766 (GRCm39) |
E270G |
probably benign |
Het |
| Helz2 |
T |
C |
2: 180,874,695 (GRCm39) |
D1933G |
probably damaging |
Het |
| Hspa4 |
G |
A |
11: 53,157,887 (GRCm39) |
A572V |
possibly damaging |
Het |
| Ica1 |
T |
A |
6: 8,737,072 (GRCm39) |
D174V |
probably damaging |
Het |
| Igfbp6 |
A |
T |
15: 102,056,352 (GRCm39) |
Q137L |
possibly damaging |
Het |
| Il1r2 |
T |
C |
1: 40,144,628 (GRCm39) |
L105P |
probably damaging |
Het |
| Itgbl1 |
T |
C |
14: 124,209,645 (GRCm39) |
|
probably null |
Het |
| Ivl |
T |
A |
3: 92,479,699 (GRCm39) |
Q122L |
possibly damaging |
Het |
| Kdsr |
T |
C |
1: 106,671,415 (GRCm39) |
E198G |
probably damaging |
Het |
| Lama2 |
T |
C |
10: 27,031,529 (GRCm39) |
T1510A |
probably benign |
Het |
| Lrrc37a |
A |
T |
11: 103,391,931 (GRCm39) |
Y1165N |
probably benign |
Het |
| Mycbp2 |
A |
G |
14: 103,384,267 (GRCm39) |
|
probably null |
Het |
| Myh3 |
A |
G |
11: 66,989,518 (GRCm39) |
E1546G |
probably damaging |
Het |
| Nacad |
A |
T |
11: 6,551,031 (GRCm39) |
V720E |
probably benign |
Het |
| Napa |
A |
G |
7: 15,849,559 (GRCm39) |
D257G |
possibly damaging |
Het |
| Nif3l1 |
T |
C |
1: 58,487,042 (GRCm39) |
V76A |
probably damaging |
Het |
| Nkapd1 |
A |
C |
9: 50,521,716 (GRCm39) |
S68R |
probably damaging |
Het |
| Nphp4 |
G |
A |
4: 152,581,140 (GRCm39) |
S108N |
probably benign |
Het |
| Npr1 |
A |
T |
3: 90,362,175 (GRCm39) |
L990H |
probably damaging |
Het |
| Nup205 |
A |
G |
6: 35,224,372 (GRCm39) |
R322G |
unknown |
Het |
| Or4a79 |
C |
A |
2: 89,552,309 (GRCm39) |
A49S |
probably benign |
Het |
| Or4q3 |
G |
T |
14: 50,583,285 (GRCm39) |
Q174K |
probably benign |
Het |
| Or52n2c |
T |
A |
7: 104,574,066 (GRCm39) |
I302F |
possibly damaging |
Het |
| Or8c14-ps1 |
T |
G |
9: 38,101,777 (GRCm39) |
M252R |
unknown |
Het |
| Or8c19-ps1 |
T |
A |
9: 38,220,817 (GRCm39) |
V242E |
unknown |
Het |
| Ovch2 |
G |
T |
7: 107,393,298 (GRCm39) |
Q192K |
probably benign |
Het |
| Pcca |
T |
A |
14: 122,800,384 (GRCm39) |
D91E |
probably benign |
Het |
| Pole2 |
T |
C |
12: 69,251,032 (GRCm39) |
T444A |
probably damaging |
Het |
| Ppip5k1 |
T |
C |
2: 121,173,276 (GRCm39) |
K466E |
probably benign |
Het |
| Prr35 |
A |
T |
17: 26,167,458 (GRCm39) |
Y26* |
probably null |
Het |
| Ptgfrn |
A |
T |
3: 100,968,126 (GRCm39) |
I489N |
probably damaging |
Het |
| Rassf1 |
A |
G |
9: 107,438,744 (GRCm39) |
*341W |
probably null |
Het |
| Ret |
G |
A |
6: 118,132,321 (GRCm39) |
P1040S |
probably damaging |
Het |
| Rictor |
C |
T |
15: 6,801,635 (GRCm39) |
S441L |
probably benign |
Het |
| Rsf1 |
A |
AAGGCGACGG |
7: 97,229,111 (GRCm39) |
|
probably null |
Het |
| Slc6a17 |
A |
T |
3: 107,384,214 (GRCm39) |
Y377N |
possibly damaging |
Het |
| Snrnp200 |
C |
A |
2: 127,078,754 (GRCm39) |
D1806E |
probably benign |
Het |
| Synj2 |
G |
A |
17: 6,094,419 (GRCm39) |
R1215H |
unknown |
Het |
| Tbc1d5 |
TTGCTGCTGGTGTTGCTGCTGCTGCTGCTG |
TTGCTGCTG |
17: 51,106,950 (GRCm39) |
|
probably benign |
Het |
| Top2a |
A |
T |
11: 98,913,176 (GRCm39) |
D85E |
probably damaging |
Het |
| Tram1l1 |
A |
T |
3: 124,115,353 (GRCm39) |
Q171L |
probably damaging |
Het |
| Tram1l1 |
G |
T |
3: 124,115,354 (GRCm39) |
Q171H |
probably damaging |
Het |
| Tspyl4 |
A |
G |
10: 34,174,267 (GRCm39) |
H253R |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,662,490 (GRCm39) |
I23V |
|
Het |
| Ubr5 |
T |
C |
15: 37,981,150 (GRCm39) |
N2376D |
|
Het |
| Ugt2b37 |
T |
C |
5: 87,398,489 (GRCm39) |
N316D |
probably benign |
Het |
| Usp31 |
A |
C |
7: 121,247,679 (GRCm39) |
S1255A |
probably benign |
Het |
| Usp31 |
A |
T |
7: 121,276,535 (GRCm39) |
V334E |
probably damaging |
Het |
| Vmn2r108 |
A |
G |
17: 20,690,305 (GRCm39) |
|
probably null |
Het |
| Vmn2r87 |
T |
A |
10: 130,333,095 (GRCm39) |
T52S |
probably benign |
Het |
| Vrk2 |
C |
A |
11: 26,421,457 (GRCm39) |
L500F |
probably damaging |
Het |
| Zan |
T |
A |
5: 137,435,064 (GRCm39) |
I2110F |
unknown |
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 |
|
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 |
|
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'- GCCACAATGGTCACTCTGTG -3'
(R):5'- ATTGCCTCGGCTTACCAAG -3'
Sequencing Primer
(F):5'- AAGAATGGCCCCTTGAGTCCTTAG -3'
(R):5'- CTTACCAAGCTGGAGCCAC -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation