Incidental Mutation 'R4578:Iqca1'
| ID |
343369 |
| 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 |
041800-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4578 (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 A
at 90001472 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 520
(I520F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108717
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113094]
[ENSMUST00000212394]
|
| AlphaFold |
Q9CUL5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113094
AA Change: I520F
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000108717
Gene: ENSMUSG00000026301
AA Change: I520F
| 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: ENSMUST00000189690
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000212394
AA Change: I543F
PolyPhen 2
Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930522L14Rik |
A |
T |
5: 109,884,537 (GRCm39) |
Y440* |
probably null |
Het |
| Aldh3b3 |
A |
T |
19: 4,014,832 (GRCm39) |
T110S |
probably benign |
Het |
| Atp2b2 |
T |
C |
6: 113,737,672 (GRCm39) |
T901A |
probably damaging |
Het |
| Auts2 |
C |
T |
5: 132,287,773 (GRCm39) |
G70E |
probably benign |
Het |
| Bfar |
A |
T |
16: 13,505,307 (GRCm39) |
I106F |
probably benign |
Het |
| Btbd10 |
T |
G |
7: 112,921,959 (GRCm39) |
I301L |
possibly damaging |
Het |
| Card14 |
G |
A |
11: 119,217,567 (GRCm39) |
R400H |
probably benign |
Het |
| Ccdc80 |
A |
G |
16: 44,915,849 (GRCm39) |
R202G |
probably damaging |
Het |
| Cimip2a |
T |
C |
2: 25,110,300 (GRCm39) |
S71P |
probably benign |
Het |
| Cmtm7 |
A |
C |
9: 114,592,351 (GRCm39) |
I82S |
probably benign |
Het |
| Cngb3 |
T |
A |
4: 19,425,613 (GRCm39) |
W474R |
probably damaging |
Het |
| Coq9 |
T |
C |
8: 95,580,234 (GRCm39) |
V285A |
probably benign |
Het |
| Cp |
A |
G |
3: 20,028,052 (GRCm39) |
E486G |
probably damaging |
Het |
| Crybg3 |
C |
T |
16: 59,350,564 (GRCm39) |
C892Y |
probably damaging |
Het |
| Cttn |
A |
T |
7: 144,008,453 (GRCm39) |
F176L |
probably damaging |
Het |
| Cytip |
T |
A |
2: 58,050,024 (GRCm39) |
N15I |
possibly damaging |
Het |
| Dgkb |
A |
G |
12: 38,477,492 (GRCm39) |
E634G |
possibly damaging |
Het |
| Duox1 |
A |
G |
2: 122,164,258 (GRCm39) |
E906G |
probably benign |
Het |
| Efcab6 |
A |
T |
15: 83,817,369 (GRCm39) |
S735T |
probably benign |
Het |
| Elfn1 |
T |
C |
5: 139,957,808 (GRCm39) |
S271P |
probably benign |
Het |
| Ep300 |
T |
C |
15: 81,533,210 (GRCm39) |
S1756P |
unknown |
Het |
| Ep300 |
T |
A |
15: 81,495,611 (GRCm39) |
|
probably benign |
Het |
| Ercc5 |
T |
A |
1: 44,187,308 (GRCm39) |
V29E |
probably benign |
Het |
| Frmd4a |
C |
A |
2: 4,608,490 (GRCm39) |
A786E |
possibly damaging |
Het |
| Ftcd |
A |
C |
10: 76,425,092 (GRCm39) |
E524D |
probably benign |
Het |
| Gfod2 |
T |
C |
8: 106,454,878 (GRCm39) |
M1V |
probably null |
Het |
| Gm12790 |
T |
C |
4: 101,825,324 (GRCm39) |
D30G |
probably benign |
Het |
| Gsta4 |
A |
T |
9: 78,113,302 (GRCm39) |
R127S |
probably benign |
Het |
| Hcn2 |
G |
A |
10: 79,560,282 (GRCm39) |
|
probably null |
Het |
| Hectd1 |
A |
G |
12: 51,798,715 (GRCm39) |
V2135A |
probably damaging |
Het |
| Hoxc6 |
A |
G |
15: 102,918,093 (GRCm39) |
D19G |
probably benign |
Het |
| Hydin |
A |
T |
8: 110,993,971 (GRCm39) |
T2S |
unknown |
Het |
| Ifna14 |
A |
T |
4: 88,489,747 (GRCm39) |
S97T |
possibly damaging |
Het |
| Igkv17-127 |
T |
C |
6: 67,838,183 (GRCm39) |
L14P |
unknown |
Het |
| Il17rb |
A |
G |
14: 29,724,356 (GRCm39) |
V166A |
probably damaging |
Het |
| Kcnv2 |
G |
T |
19: 27,300,994 (GRCm39) |
V282L |
probably benign |
Het |
| Klk12 |
A |
G |
7: 43,422,667 (GRCm39) |
D198G |
probably damaging |
Het |
| Kntc1 |
T |
G |
5: 123,904,018 (GRCm39) |
L345R |
probably damaging |
Het |
| Lrfn5 |
A |
G |
12: 61,890,763 (GRCm39) |
D684G |
probably benign |
Het |
| Mef2a |
T |
C |
7: 66,890,187 (GRCm39) |
N131S |
probably benign |
Het |
| Mis18bp1 |
T |
C |
12: 65,200,655 (GRCm39) |
Y124C |
probably damaging |
Het |
| Mplkipl1 |
C |
T |
19: 61,164,364 (GRCm39) |
G24R |
unknown |
Het |
| Myh2 |
T |
A |
11: 67,064,084 (GRCm39) |
V48D |
possibly damaging |
Het |
| Nat10 |
A |
G |
2: 103,584,417 (GRCm39) |
M120T |
probably damaging |
Het |
| Nf1 |
T |
C |
11: 79,336,585 (GRCm39) |
S1065P |
probably damaging |
Het |
| Nfib |
A |
T |
4: 82,215,048 (GRCm39) |
S518R |
probably damaging |
Het |
| Pced1a |
A |
C |
2: 130,264,596 (GRCm39) |
L78R |
probably damaging |
Het |
| Peli3 |
T |
C |
19: 4,984,486 (GRCm39) |
D192G |
probably benign |
Het |
| Plb1 |
C |
T |
5: 32,404,901 (GRCm39) |
Q20* |
probably null |
Het |
| Pomgnt2 |
G |
A |
9: 121,812,131 (GRCm39) |
R217C |
probably damaging |
Het |
| Ptprd |
C |
T |
4: 76,162,023 (GRCm39) |
V78I |
possibly damaging |
Het |
| Rngtt |
A |
G |
4: 33,339,050 (GRCm39) |
E285G |
probably benign |
Het |
| Sclt1 |
G |
A |
3: 41,625,900 (GRCm39) |
Q356* |
probably null |
Het |
| Scn2b |
T |
C |
9: 45,037,460 (GRCm39) |
F169S |
possibly damaging |
Het |
| Sfta2 |
C |
T |
17: 35,960,775 (GRCm39) |
|
probably benign |
Het |
| Srpra |
T |
C |
9: 35,125,904 (GRCm39) |
I394T |
possibly damaging |
Het |
| Sspo |
A |
C |
6: 48,440,307 (GRCm39) |
D1541A |
possibly damaging |
Het |
| Strc |
G |
A |
2: 121,208,484 (GRCm39) |
L296F |
possibly damaging |
Het |
| Svop |
C |
T |
5: 114,203,743 (GRCm39) |
V13M |
probably damaging |
Het |
| Taf6l |
C |
A |
19: 8,761,335 (GRCm39) |
R10L |
possibly damaging |
Het |
| Tbx3 |
G |
T |
5: 119,820,841 (GRCm39) |
R617L |
probably damaging |
Het |
| Tnrc6a |
A |
G |
7: 122,783,444 (GRCm39) |
R1471G |
possibly damaging |
Het |
| Togaram1 |
T |
C |
12: 65,067,100 (GRCm39) |
L1714P |
probably damaging |
Het |
| Traf3ip2 |
A |
G |
10: 39,510,650 (GRCm39) |
N308D |
probably damaging |
Het |
| Trim30b |
T |
C |
7: 104,006,538 (GRCm39) |
Y106C |
possibly damaging |
Het |
| Vcp |
A |
T |
4: 42,984,565 (GRCm39) |
M442K |
probably benign |
Het |
| Vmn2r16 |
A |
T |
5: 109,511,665 (GRCm39) |
Y624F |
possibly damaging |
Het |
| Vmn2r52 |
A |
T |
7: 9,904,617 (GRCm39) |
H407Q |
probably damaging |
Het |
| Vps13a |
A |
T |
19: 16,659,474 (GRCm39) |
D1684E |
probably damaging |
Het |
| Wdr49 |
T |
C |
3: 75,242,550 (GRCm39) |
M380V |
probably benign |
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 |
|
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'- TCAGGTCATGCCAGAAAGAACTG -3'
(R):5'- GCATACATGAAAGCATACGTCAG -3'
Sequencing Primer
(F):5'- GGTTGAAAAACTGGCTTCTGC -3'
(R):5'- GCATACGTCAGAGCAGCTG -3'
|
| Posted On |
2015-09-24 |
Incidental Mutation