Incidental Mutation 'R9055:Iqca1'
| ID |
688595 |
| 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 |
068881-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9055 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
89969854-90081123 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 89998335 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 546
(Y546C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148643
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113094]
[ENSMUST00000212394]
|
| AlphaFold |
Q9CUL5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000113094
AA Change: Y523C
PolyPhen 2
Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000108717
Gene: ENSMUSG00000026301
AA Change: Y523C
| 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 |
probably benign
Transcript: ENSMUST00000212394
AA Change: Y546C
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.9%
|
| Validation Efficiency |
97% (68/70) |
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim1 |
T |
A |
19: 57,030,398 (GRCm39) |
T753S |
probably benign |
Het |
| Acy3 |
A |
G |
19: 4,038,178 (GRCm39) |
E157G |
probably benign |
Het |
| Adamts20 |
A |
G |
15: 94,181,867 (GRCm39) |
Y1609H |
probably damaging |
Het |
| Ahnak2 |
C |
T |
12: 112,741,019 (GRCm39) |
A1018T |
possibly damaging |
Het |
| Ahsg |
T |
A |
16: 22,711,069 (GRCm39) |
W69R |
possibly damaging |
Het |
| Alox12 |
T |
G |
11: 70,143,903 (GRCm39) |
D159A |
probably damaging |
Het |
| Alox12b |
C |
G |
11: 69,054,884 (GRCm39) |
P296A |
possibly damaging |
Het |
| Ankrd17 |
T |
C |
5: 90,380,168 (GRCm39) |
I2507V |
probably benign |
Het |
| Apeh |
T |
C |
9: 107,963,045 (GRCm39) |
M670V |
possibly damaging |
Het |
| Aqp12 |
C |
T |
1: 92,934,627 (GRCm39) |
A168V |
probably benign |
Het |
| Ceacam1 |
A |
T |
7: 25,171,299 (GRCm39) |
D388E |
probably damaging |
Het |
| Clp1 |
A |
T |
2: 84,554,266 (GRCm39) |
I301N |
probably damaging |
Het |
| Cntn3 |
A |
G |
6: 102,244,398 (GRCm39) |
F384L |
probably benign |
Het |
| Dnpep |
A |
T |
1: 75,291,805 (GRCm39) |
M238K |
possibly damaging |
Het |
| Dync2h1 |
A |
T |
9: 6,996,641 (GRCm39) |
|
probably benign |
Het |
| Edc3 |
T |
A |
9: 57,623,360 (GRCm39) |
N98K |
probably benign |
Het |
| Egr3 |
T |
A |
14: 70,316,349 (GRCm39) |
N15K |
probably damaging |
Het |
| Fbxo25 |
T |
A |
8: 13,965,023 (GRCm39) |
C25S |
possibly damaging |
Het |
| Fgd4 |
T |
A |
16: 16,240,494 (GRCm39) |
D745V |
possibly damaging |
Het |
| Flnb |
T |
A |
14: 7,908,553 (GRCm38) |
D1310E |
probably benign |
Het |
| Ggnbp2 |
A |
G |
11: 84,732,448 (GRCm39) |
F215S |
probably damaging |
Het |
| Gm1979 |
C |
T |
5: 26,207,032 (GRCm39) |
R107Q |
probably benign |
Het |
| Gm4847 |
T |
A |
1: 166,467,677 (GRCm39) |
H173L |
probably damaging |
Het |
| Gmeb1 |
A |
T |
4: 131,964,425 (GRCm39) |
L146H |
probably damaging |
Het |
| Gpr88 |
A |
G |
3: 116,046,300 (GRCm39) |
S4P |
unknown |
Het |
| Gucy1a1 |
A |
G |
3: 82,016,433 (GRCm39) |
L185P |
possibly damaging |
Het |
| Hsd3b6 |
G |
T |
3: 98,713,984 (GRCm39) |
T105N |
probably damaging |
Het |
| Irf1 |
T |
A |
11: 53,667,196 (GRCm39) |
I305N |
probably benign |
Het |
| Itgb3 |
G |
A |
11: 104,556,451 (GRCm39) |
W764* |
probably null |
Het |
| Klra8 |
G |
T |
6: 130,096,017 (GRCm39) |
R192S |
probably benign |
Het |
| Krt79 |
T |
A |
15: 101,839,922 (GRCm39) |
I358F |
probably damaging |
Het |
| Mettl4 |
T |
C |
17: 95,047,843 (GRCm39) |
D266G |
possibly damaging |
Het |
| Mfsd8 |
G |
A |
3: 40,786,493 (GRCm39) |
A219V |
probably benign |
Het |
| Mgam |
G |
A |
6: 40,691,663 (GRCm39) |
|
probably benign |
Het |
| Nek9 |
A |
T |
12: 85,348,616 (GRCm39) |
C973S |
probably damaging |
Het |
| Or2k2 |
G |
T |
4: 58,785,374 (GRCm39) |
A116E |
possibly damaging |
Het |
| Or4f15 |
A |
T |
2: 111,814,049 (GRCm39) |
Y123* |
probably null |
Het |
| Or8c13 |
T |
C |
9: 38,091,780 (GRCm39) |
Y113C |
probably damaging |
Het |
| Ostc |
T |
A |
3: 130,503,020 (GRCm39) |
E2V |
probably damaging |
Het |
| Ostc |
C |
A |
3: 130,503,021 (GRCm39) |
E2* |
probably null |
Het |
| Pcdhb8 |
T |
A |
18: 37,490,585 (GRCm39) |
C754* |
probably null |
Het |
| Polr1a |
A |
G |
6: 71,892,053 (GRCm39) |
T111A |
possibly damaging |
Het |
| Prep |
C |
T |
10: 44,991,291 (GRCm39) |
T319M |
probably benign |
Het |
| Reg3b |
A |
C |
6: 78,349,886 (GRCm39) |
D142A |
possibly damaging |
Het |
| Retsat |
A |
G |
6: 72,583,936 (GRCm39) |
D537G |
probably benign |
Het |
| Rnf2 |
G |
A |
1: 151,352,030 (GRCm39) |
L109F |
probably damaging |
Het |
| Rskr |
A |
G |
11: 78,184,373 (GRCm39) |
D240G |
probably damaging |
Het |
| Runx3 |
G |
T |
4: 134,902,656 (GRCm39) |
R262L |
probably damaging |
Het |
| Rwdd3 |
G |
T |
3: 120,952,871 (GRCm39) |
T112K |
probably benign |
Het |
| Scfd2 |
T |
C |
5: 74,691,931 (GRCm39) |
H117R |
possibly damaging |
Het |
| Scn10a |
C |
T |
9: 119,451,958 (GRCm39) |
V1321M |
probably damaging |
Het |
| Sec31a |
T |
C |
5: 100,534,040 (GRCm39) |
E119G |
possibly damaging |
Het |
| Skint6 |
C |
A |
4: 113,095,347 (GRCm39) |
G104V |
probably damaging |
Het |
| Slc18a1 |
T |
A |
8: 69,520,823 (GRCm39) |
I199F |
possibly damaging |
Het |
| St18 |
C |
T |
1: 6,873,206 (GRCm39) |
R314* |
probably null |
Het |
| Sucla2 |
T |
G |
14: 73,819,068 (GRCm39) |
|
probably benign |
Het |
| Sulf1 |
A |
T |
1: 12,878,187 (GRCm39) |
H225L |
probably damaging |
Het |
| Tas2r140 |
A |
G |
6: 133,032,380 (GRCm39) |
V126A |
possibly damaging |
Het |
| Tcp10b |
T |
C |
17: 13,281,828 (GRCm39) |
I66T |
probably damaging |
Het |
| Tmem45a2 |
T |
C |
16: 56,861,115 (GRCm39) |
I237M |
probably benign |
Het |
| Traf3ip1 |
C |
T |
1: 91,428,733 (GRCm39) |
R167* |
probably null |
Het |
| Trav17 |
T |
G |
14: 54,044,320 (GRCm39) |
V30G |
probably damaging |
Het |
| Vmn1r54 |
A |
G |
6: 90,246,100 (GRCm39) |
N5D |
probably benign |
Het |
| Vmn2r81 |
A |
G |
10: 79,110,441 (GRCm39) |
H518R |
probably benign |
Het |
| Washc3 |
A |
G |
10: 88,051,916 (GRCm39) |
T102A |
probably benign |
Het |
| Xaf1 |
A |
G |
11: 72,194,266 (GRCm39) |
H49R |
probably damaging |
Het |
| Zfp1001 |
G |
A |
2: 150,165,753 (GRCm39) |
|
probably benign |
Het |
| Zfp276 |
T |
C |
8: 123,985,109 (GRCm39) |
F356L |
probably damaging |
Het |
| Zfp398 |
G |
T |
6: 47,843,319 (GRCm39) |
R457L |
possibly damaging |
Het |
| Zfp512 |
G |
T |
5: 31,637,533 (GRCm39) |
E541* |
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 |
|
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 |
|
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'- CTCAGCTGGGAATGGGAAAC -3'
(R):5'- ATACATGGTCACAGGTCATTCC -3'
Sequencing Primer
(F):5'- CGCCCTTATGGTGTCAAACAG -3'
(R):5'- ATGGTCACAGGTCATTCCTTCCC -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation