Incidental Mutation 'R1742:Iqca1'
| ID |
200388 |
| 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 |
039774-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1742 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
89969854-90081123 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 90025773 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 341
(I341V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108717
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113094]
[ENSMUST00000212394]
|
| AlphaFold |
Q9CUL5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113094
AA Change: I341V
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000108717
Gene: ENSMUSG00000026301
AA Change: I341V
| 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: ENSMUST00000211999
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212394
AA Change: I341V
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| Coding Region Coverage |
- 1x: 97.5%
- 3x: 96.9%
- 10x: 95.4%
- 20x: 92.7%
|
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankhd1 |
C |
A |
18: 36,758,318 (GRCm39) |
A1004E |
probably damaging |
Het |
| Arfgef2 |
A |
G |
2: 166,708,900 (GRCm39) |
S1071G |
probably damaging |
Het |
| Arhgef5 |
T |
A |
6: 43,257,133 (GRCm39) |
I1228N |
probably damaging |
Het |
| Auh |
G |
A |
13: 52,989,532 (GRCm39) |
P308L |
probably benign |
Het |
| Bptf |
A |
G |
11: 107,001,777 (GRCm39) |
V445A |
probably damaging |
Het |
| Btf3 |
C |
T |
13: 98,452,804 (GRCm39) |
M1I |
probably null |
Het |
| Bves |
C |
T |
10: 45,223,961 (GRCm39) |
T207M |
probably damaging |
Het |
| Ccdc171 |
T |
A |
4: 83,599,521 (GRCm39) |
S779T |
probably damaging |
Het |
| Ccdc54 |
T |
C |
16: 50,410,601 (GRCm39) |
K222E |
possibly damaging |
Het |
| Cebpe |
A |
G |
14: 54,949,057 (GRCm39) |
V120A |
probably benign |
Het |
| Clhc1 |
T |
A |
11: 29,507,647 (GRCm39) |
|
probably null |
Het |
| Col22a1 |
C |
T |
15: 71,673,762 (GRCm39) |
G985S |
unknown |
Het |
| Col6a3 |
T |
A |
1: 90,741,516 (GRCm39) |
I639F |
probably damaging |
Het |
| Cryga |
C |
A |
1: 65,142,280 (GRCm39) |
V38L |
probably benign |
Het |
| Dll3 |
T |
C |
7: 27,993,848 (GRCm39) |
T530A |
probably benign |
Het |
| Dnaaf9 |
A |
T |
2: 130,582,315 (GRCm39) |
|
probably null |
Het |
| Dnah7a |
G |
A |
1: 53,495,843 (GRCm39) |
P3205S |
probably benign |
Het |
| Dpp10 |
T |
A |
1: 123,372,935 (GRCm39) |
Y224F |
probably damaging |
Het |
| Eif1ad10 |
C |
T |
12: 88,216,453 (GRCm39) |
D140N |
unknown |
Het |
| Fcrl2 |
T |
C |
3: 87,166,350 (GRCm39) |
T142A |
possibly damaging |
Het |
| Fyttd1 |
C |
T |
16: 32,725,923 (GRCm39) |
R175* |
probably null |
Het |
| Gm10277 |
TC |
T |
11: 77,676,828 (GRCm39) |
|
probably null |
Het |
| Gpr33 |
T |
C |
12: 52,071,045 (GRCm39) |
|
probably null |
Het |
| Gse1 |
T |
A |
8: 121,293,689 (GRCm39) |
V205E |
probably damaging |
Het |
| Herc4 |
C |
A |
10: 63,123,728 (GRCm39) |
N461K |
probably benign |
Het |
| Ifi206 |
G |
A |
1: 173,309,537 (GRCm39) |
T153I |
probably benign |
Het |
| Itsn1 |
T |
G |
16: 91,613,847 (GRCm39) |
|
probably null |
Het |
| Kcnk5 |
T |
A |
14: 20,191,925 (GRCm39) |
Y412F |
probably benign |
Het |
| Lemd1 |
T |
A |
1: 132,156,036 (GRCm39) |
I26K |
probably damaging |
Het |
| Lipc |
A |
T |
9: 70,727,811 (GRCm39) |
L12Q |
probably damaging |
Het |
| Lrrtm1 |
C |
A |
6: 77,221,074 (GRCm39) |
P177Q |
probably damaging |
Het |
| Mcph1 |
G |
A |
8: 18,657,379 (GRCm39) |
G73R |
probably benign |
Het |
| Msantd5f6 |
T |
C |
4: 73,319,447 (GRCm39) |
D99G |
probably damaging |
Het |
| Myh11 |
A |
T |
16: 14,037,908 (GRCm39) |
L899Q |
probably damaging |
Het |
| Myo18a |
G |
T |
11: 77,732,293 (GRCm39) |
R822L |
probably damaging |
Het |
| Nav3 |
T |
C |
10: 109,605,074 (GRCm39) |
T1000A |
probably benign |
Het |
| Nox4 |
T |
C |
7: 86,945,026 (GRCm39) |
V94A |
possibly damaging |
Het |
| Or10ag53 |
T |
A |
2: 87,083,122 (GRCm39) |
N280K |
probably benign |
Het |
| Or4c123 |
G |
T |
2: 89,126,768 (GRCm39) |
P282H |
probably damaging |
Het |
| Or7g32 |
A |
G |
9: 19,389,337 (GRCm39) |
S67P |
probably damaging |
Het |
| Oxr1 |
T |
C |
15: 41,713,955 (GRCm39) |
L679P |
probably damaging |
Het |
| Pcdhb17 |
T |
C |
18: 37,619,629 (GRCm39) |
I473T |
probably damaging |
Het |
| Pgbd5 |
T |
A |
8: 125,107,046 (GRCm39) |
E165D |
probably damaging |
Het |
| Pgpep1l |
A |
T |
7: 67,886,802 (GRCm39) |
V169D |
probably damaging |
Het |
| Phf12 |
C |
T |
11: 77,900,312 (GRCm39) |
T136I |
probably benign |
Het |
| Pif1 |
T |
A |
9: 65,495,132 (GRCm39) |
M14K |
probably benign |
Het |
| Pigr |
A |
G |
1: 130,772,823 (GRCm39) |
E347G |
probably damaging |
Het |
| Plekha3 |
G |
A |
2: 76,513,223 (GRCm39) |
E103K |
possibly damaging |
Het |
| Ptgs2 |
A |
G |
1: 149,980,150 (GRCm39) |
I363V |
probably damaging |
Het |
| Rasl11a |
T |
A |
5: 146,783,805 (GRCm39) |
|
probably null |
Het |
| Recql |
T |
C |
6: 142,310,298 (GRCm39) |
T511A |
probably damaging |
Het |
| Rgl2 |
T |
A |
17: 34,156,197 (GRCm39) |
|
probably null |
Het |
| Rpp25l |
T |
C |
4: 41,712,763 (GRCm39) |
Y4C |
probably damaging |
Het |
| Sass6 |
T |
G |
3: 116,401,126 (GRCm39) |
C156G |
probably damaging |
Het |
| Sgta |
T |
G |
10: 80,882,111 (GRCm39) |
N288T |
probably damaging |
Het |
| Slco1a4 |
T |
A |
6: 141,770,771 (GRCm39) |
T282S |
probably benign |
Het |
| Smad4 |
T |
C |
18: 73,808,968 (GRCm39) |
R100G |
probably damaging |
Het |
| Sox8 |
C |
T |
17: 25,786,915 (GRCm39) |
V263M |
probably damaging |
Het |
| Sp8 |
A |
G |
12: 118,813,552 (GRCm39) |
H469R |
probably benign |
Het |
| Spata1 |
A |
T |
3: 146,175,378 (GRCm39) |
|
probably null |
Het |
| Taar7a |
G |
A |
10: 23,869,117 (GRCm39) |
S88F |
probably damaging |
Het |
| Tnks2 |
T |
C |
19: 36,853,661 (GRCm39) |
L749S |
probably damaging |
Het |
| Tollip |
C |
A |
7: 141,446,592 (GRCm39) |
R19L |
probably damaging |
Het |
| Tox2 |
G |
A |
2: 163,067,446 (GRCm39) |
R55H |
probably benign |
Het |
| Vmn2r27 |
T |
C |
6: 124,177,636 (GRCm39) |
E456G |
possibly damaging |
Het |
| Vmn2r77 |
T |
A |
7: 86,444,543 (GRCm39) |
N65K |
probably benign |
Het |
| Vwf |
T |
C |
6: 125,644,513 (GRCm39) |
M2456T |
probably benign |
Het |
| Zfp526 |
A |
G |
7: 24,923,939 (GRCm39) |
N66S |
possibly damaging |
Het |
| Zic1 |
T |
C |
9: 91,243,629 (GRCm39) |
Y446C |
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 |
|
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 |
|
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'- CTGCCAAACAGCTTGCCTTGAAG -3'
(R):5'- TCTGTTGGAGCGTCACTGTAACCC -3'
Sequencing Primer
(F):5'- CGGAAACTGATTGAGTTGTCCAC -3'
(R):5'- TCACTGTAACCCCTGAAAATATGGAG -3'
|
| Posted On |
2014-05-23 |
Incidental Mutation