Incidental Mutation 'R4867:Iqca1'
| ID |
376194 |
| 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 |
042477-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4867 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
89969854-90081123 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 90017226 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Serine
at position 403
(L403S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148643
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113094]
[ENSMUST00000212394]
|
| AlphaFold |
Q9CUL5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113094
AA Change: L394S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000108717
Gene: ENSMUSG00000026301
AA Change: L394S
| 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: ENSMUST00000186403
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189690
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212394
AA Change: L403S
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.9%
|
| 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: 80 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310022B05Rik |
T |
C |
8: 125,366,099 (GRCm39) |
I215V |
probably damaging |
Het |
| 4921509C19Rik |
A |
T |
2: 151,314,742 (GRCm39) |
L312* |
probably null |
Het |
| 9930111J21Rik1 |
T |
A |
11: 48,839,375 (GRCm39) |
|
probably null |
Het |
| Abca6 |
C |
A |
11: 110,093,205 (GRCm39) |
V1023F |
probably benign |
Het |
| Ablim2 |
C |
T |
5: 35,959,766 (GRCm39) |
R73C |
possibly damaging |
Het |
| Acsbg2 |
A |
G |
17: 57,169,914 (GRCm39) |
I151T |
possibly damaging |
Het |
| Arid1a |
G |
A |
4: 133,448,168 (GRCm39) |
S115L |
probably benign |
Het |
| B4galnt2 |
T |
C |
11: 95,759,252 (GRCm39) |
D344G |
probably damaging |
Het |
| Ccdc40 |
T |
C |
11: 119,122,614 (GRCm39) |
S139P |
probably benign |
Het |
| Ccnjl |
T |
C |
11: 43,474,055 (GRCm39) |
V210A |
possibly damaging |
Het |
| Cdk5rap1 |
C |
T |
2: 154,212,876 (GRCm39) |
|
probably null |
Het |
| Cfhr4 |
A |
T |
1: 139,702,213 (GRCm39) |
|
probably null |
Het |
| Cog4 |
T |
C |
8: 111,593,242 (GRCm39) |
V451A |
probably damaging |
Het |
| Crb1 |
A |
T |
1: 139,170,752 (GRCm39) |
N818K |
probably damaging |
Het |
| Crtc1 |
T |
C |
8: 70,855,164 (GRCm39) |
D152G |
probably damaging |
Het |
| Cse1l |
T |
A |
2: 166,768,323 (GRCm39) |
I207N |
possibly damaging |
Het |
| Cux1 |
TGGCAGGCGCG |
TG |
5: 136,303,815 (GRCm39) |
|
probably benign |
Het |
| Cyp2j13 |
T |
C |
4: 95,947,235 (GRCm39) |
Y272C |
possibly damaging |
Het |
| Cyp4f16 |
T |
C |
17: 32,769,724 (GRCm39) |
F445L |
possibly damaging |
Het |
| Dlc1 |
T |
C |
8: 37,051,799 (GRCm39) |
H644R |
probably benign |
Het |
| Ecm2 |
A |
T |
13: 49,684,821 (GRCm39) |
I643F |
probably damaging |
Het |
| Eogt |
A |
T |
6: 97,097,108 (GRCm39) |
|
probably benign |
Het |
| Fbxo41 |
A |
C |
6: 85,452,176 (GRCm39) |
S777A |
probably benign |
Het |
| Fga |
T |
A |
3: 82,935,951 (GRCm39) |
D59E |
probably benign |
Het |
| Flt3 |
A |
T |
5: 147,271,250 (GRCm39) |
V897D |
probably damaging |
Het |
| Fmn1 |
G |
T |
2: 113,414,465 (GRCm39) |
|
probably null |
Het |
| Frem3 |
T |
C |
8: 81,339,912 (GRCm39) |
L735P |
probably damaging |
Het |
| Ftmt |
A |
T |
18: 52,465,125 (GRCm39) |
D147V |
possibly damaging |
Het |
| Gabpa |
T |
A |
16: 84,654,356 (GRCm39) |
D344E |
probably benign |
Het |
| Gtf3a |
C |
T |
5: 146,888,723 (GRCm39) |
Q145* |
probably null |
Het |
| Il36rn |
A |
T |
2: 24,170,847 (GRCm39) |
N48I |
probably damaging |
Het |
| Jrk |
C |
T |
15: 74,579,069 (GRCm39) |
R72Q |
probably benign |
Het |
| Kif19a |
G |
A |
11: 114,658,053 (GRCm39) |
M37I |
probably benign |
Het |
| Krt12 |
T |
C |
11: 99,307,789 (GRCm39) |
D433G |
possibly damaging |
Het |
| Lce1h |
A |
T |
3: 92,670,770 (GRCm39) |
S127R |
unknown |
Het |
| Lrrc7 |
T |
G |
3: 157,866,642 (GRCm39) |
Y1033S |
probably damaging |
Het |
| Macf1 |
A |
G |
4: 123,365,993 (GRCm39) |
S1358P |
probably damaging |
Het |
| Mfsd1 |
T |
A |
3: 67,495,320 (GRCm39) |
|
probably null |
Het |
| Mki67 |
T |
C |
7: 135,301,585 (GRCm39) |
T1150A |
probably damaging |
Het |
| Nadk2 |
A |
G |
15: 9,098,946 (GRCm39) |
I291M |
possibly damaging |
Het |
| Or13g1 |
T |
C |
7: 85,955,491 (GRCm39) |
T277A |
probably benign |
Het |
| Or1j12 |
A |
C |
2: 36,343,211 (GRCm39) |
M205L |
probably benign |
Het |
| Or2r2 |
A |
G |
6: 42,464,031 (GRCm39) |
V32A |
probably benign |
Het |
| Or6e1 |
T |
A |
14: 54,520,086 (GRCm39) |
T89S |
probably benign |
Het |
| Or7g17 |
A |
T |
9: 18,768,862 (GRCm39) |
I305F |
probably benign |
Het |
| Parp14 |
T |
A |
16: 35,677,697 (GRCm39) |
Y757F |
probably benign |
Het |
| Pcdh18 |
T |
C |
3: 49,709,113 (GRCm39) |
Y734C |
probably damaging |
Het |
| Pcnx4 |
T |
C |
12: 72,620,726 (GRCm39) |
S849P |
probably benign |
Het |
| Pds5a |
T |
C |
5: 65,801,463 (GRCm39) |
K595E |
probably damaging |
Het |
| Prkg2 |
T |
A |
5: 99,172,568 (GRCm39) |
Y49F |
probably benign |
Het |
| Prr5 |
G |
T |
15: 84,624,967 (GRCm39) |
L46F |
probably benign |
Het |
| Ptgdr |
G |
T |
14: 45,096,253 (GRCm39) |
P153Q |
probably damaging |
Het |
| Rbm12b2 |
T |
C |
4: 12,094,805 (GRCm39) |
S555P |
probably damaging |
Het |
| Rhog |
T |
G |
7: 101,889,357 (GRCm39) |
Y32S |
probably damaging |
Het |
| Rnf141 |
T |
C |
7: 110,415,975 (GRCm39) |
T209A |
probably damaging |
Het |
| Rtkn2 |
T |
C |
10: 67,837,757 (GRCm39) |
I103T |
probably damaging |
Het |
| Scn5a |
G |
T |
9: 119,379,737 (GRCm39) |
C182* |
probably null |
Het |
| Sema3a |
A |
G |
5: 13,501,208 (GRCm39) |
N84D |
probably benign |
Het |
| Sema5a |
G |
T |
15: 32,550,436 (GRCm39) |
M158I |
possibly damaging |
Het |
| Shprh |
T |
A |
10: 11,040,301 (GRCm39) |
D71E |
probably benign |
Het |
| Slc26a8 |
A |
G |
17: 28,882,608 (GRCm39) |
I239T |
probably benign |
Het |
| Slco4c1 |
G |
A |
1: 96,768,953 (GRCm39) |
P303L |
probably damaging |
Het |
| Ston1 |
C |
T |
17: 88,943,122 (GRCm39) |
A176V |
probably damaging |
Het |
| Sult2a5 |
T |
C |
7: 13,357,976 (GRCm39) |
S3P |
probably benign |
Het |
| Tango6 |
T |
A |
8: 107,545,158 (GRCm39) |
V1007E |
probably damaging |
Het |
| Tank |
G |
A |
2: 61,408,979 (GRCm39) |
|
probably benign |
Het |
| Tas2r124 |
A |
G |
6: 132,732,156 (GRCm39) |
Y155C |
probably damaging |
Het |
| Tenm3 |
G |
A |
8: 48,688,856 (GRCm39) |
R2244W |
probably damaging |
Het |
| Thoc2l |
T |
C |
5: 104,668,868 (GRCm39) |
I1130T |
possibly damaging |
Het |
| Tlk1 |
A |
T |
2: 70,551,915 (GRCm39) |
Y585* |
probably null |
Het |
| Tmem221 |
C |
T |
8: 72,007,784 (GRCm39) |
E214K |
probably benign |
Het |
| Tmem38a |
T |
C |
8: 73,335,077 (GRCm39) |
V172A |
possibly damaging |
Het |
| Tspo2 |
C |
T |
17: 48,755,705 (GRCm39) |
A146T |
possibly damaging |
Het |
| Ttc3 |
G |
A |
16: 94,255,374 (GRCm39) |
A1268T |
probably damaging |
Het |
| Usp25 |
T |
A |
16: 76,847,355 (GRCm39) |
D154E |
probably damaging |
Het |
| Usp34 |
T |
C |
11: 23,401,999 (GRCm39) |
F2410L |
probably benign |
Het |
| Vmn1r128 |
T |
A |
7: 21,083,939 (GRCm39) |
H214Q |
possibly damaging |
Het |
| Vmn1r24 |
A |
C |
6: 57,933,421 (GRCm39) |
C32W |
probably damaging |
Het |
| Zfp931 |
T |
A |
2: 177,709,855 (GRCm39) |
H177L |
probably damaging |
Het |
| Znrf1 |
T |
C |
8: 112,264,198 (GRCm39) |
|
probably null |
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 |
|
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'- AAACTTGGACAGTAGCCACTAC -3'
(R):5'- AGGGAATGTCTCTGGTGGAC -3'
Sequencing Primer
(F):5'- AGCCACTACAACTCTATGCTTTTAGG -3'
(R):5'- CAGGGAAAGATCTCCAGGCCTG -3'
|
| Posted On |
2016-03-17 |
Incidental Mutation