Incidental Mutation 'R5614:Iqca1l'
ID |
438133 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Iqca1l
|
Ensembl Gene |
ENSMUSG00000038199 |
Gene Name |
IQ motif containing with AAA domain 1 like |
Synonyms |
4931409K22Rik |
MMRRC Submission |
043275-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.173)
|
Stock # |
R5614 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
24748432-24760467 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 24755140 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Valine
at position 330
(A330V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000085642
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088302]
[ENSMUST00000198887]
[ENSMUST00000200634]
|
AlphaFold |
A6H690 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000088302
AA Change: A330V
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000085642 Gene: ENSMUSG00000038199 AA Change: A330V
Domain | Start | End | E-Value | Type |
low complexity region
|
46 |
54 |
N/A |
INTRINSIC |
low complexity region
|
70 |
77 |
N/A |
INTRINSIC |
low complexity region
|
184 |
198 |
N/A |
INTRINSIC |
IQ
|
205 |
227 |
7.58e-2 |
SMART |
coiled coil region
|
335 |
382 |
N/A |
INTRINSIC |
coiled coil region
|
429 |
450 |
N/A |
INTRINSIC |
low complexity region
|
467 |
484 |
N/A |
INTRINSIC |
Pfam:AAA
|
568 |
700 |
1.6e-14 |
PFAM |
low complexity region
|
819 |
825 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198709
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000198887
|
SMART Domains |
Protein: ENSMUSP00000142918 Gene: ENSMUSG00000038199
Domain | Start | End | E-Value | Type |
low complexity region
|
46 |
54 |
N/A |
INTRINSIC |
low complexity region
|
70 |
77 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199185
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000200634
|
SMART Domains |
Protein: ENSMUSP00000142624 Gene: ENSMUSG00000038199
Domain | Start | End | E-Value | Type |
low complexity region
|
46 |
54 |
N/A |
INTRINSIC |
low complexity region
|
70 |
77 |
N/A |
INTRINSIC |
low complexity region
|
184 |
198 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.0601 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.2%
|
Validation Efficiency |
100% (62/62) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca1 |
A |
G |
4: 53,046,132 (GRCm39) |
V1712A |
probably damaging |
Het |
Ankmy2 |
T |
C |
12: 36,243,783 (GRCm39) |
S333P |
probably damaging |
Het |
Arfrp1 |
A |
G |
2: 181,001,236 (GRCm39) |
|
probably benign |
Het |
Atp13a2 |
A |
G |
4: 140,719,493 (GRCm39) |
T21A |
probably benign |
Het |
Bud23 |
C |
A |
5: 135,087,966 (GRCm39) |
A152S |
probably benign |
Het |
Cant1 |
T |
C |
11: 118,299,569 (GRCm39) |
D260G |
probably benign |
Het |
Ces1b |
T |
C |
8: 93,794,836 (GRCm39) |
I254M |
probably benign |
Het |
Ces1d |
T |
C |
8: 93,902,832 (GRCm39) |
T375A |
probably benign |
Het |
Cfap54 |
A |
G |
10: 92,880,911 (GRCm39) |
L384P |
probably damaging |
Het |
Chrne |
C |
T |
11: 70,505,879 (GRCm39) |
V469I |
possibly damaging |
Het |
Clspn |
A |
G |
4: 126,474,755 (GRCm39) |
E968G |
probably damaging |
Het |
Col5a3 |
A |
G |
9: 20,694,772 (GRCm39) |
|
probably benign |
Het |
Dtx4 |
T |
C |
19: 12,459,547 (GRCm39) |
Y419C |
probably damaging |
Het |
Fam171b |
T |
A |
2: 83,643,217 (GRCm39) |
I42N |
probably damaging |
Het |
Fam43a |
T |
C |
16: 30,420,490 (GRCm39) |
I358T |
possibly damaging |
Het |
Fasn |
T |
C |
11: 120,704,154 (GRCm39) |
S1422G |
probably benign |
Het |
Fig4 |
A |
T |
10: 41,148,981 (GRCm39) |
V157E |
probably damaging |
Het |
Fus |
T |
C |
7: 127,573,543 (GRCm39) |
|
probably benign |
Het |
Hmcn2 |
G |
T |
2: 31,318,315 (GRCm39) |
V3887F |
probably damaging |
Het |
Hmgcll1 |
A |
G |
9: 75,988,675 (GRCm39) |
Y182C |
probably damaging |
Het |
Hook2 |
T |
A |
8: 85,729,137 (GRCm39) |
I585N |
probably damaging |
Het |
Iars2 |
T |
C |
1: 185,021,705 (GRCm39) |
T866A |
probably benign |
Het |
Lrit1 |
T |
A |
14: 36,783,911 (GRCm39) |
M413K |
probably benign |
Het |
Myl9 |
G |
A |
2: 156,623,083 (GRCm39) |
|
probably benign |
Het |
Nelfa |
A |
T |
5: 34,077,844 (GRCm39) |
L179Q |
probably damaging |
Het |
Nod2 |
A |
T |
8: 89,390,824 (GRCm39) |
D355V |
probably damaging |
Het |
Npbwr1 |
A |
T |
1: 5,987,030 (GRCm39) |
S161R |
probably damaging |
Het |
Nxpe2 |
A |
T |
9: 48,234,401 (GRCm39) |
F289I |
probably benign |
Het |
Odf2 |
A |
G |
2: 29,810,879 (GRCm39) |
I538M |
probably damaging |
Het |
Osbpl6 |
T |
A |
2: 76,398,453 (GRCm39) |
V379E |
probably damaging |
Het |
Pkhd1 |
A |
G |
1: 20,143,750 (GRCm39) |
C3859R |
possibly damaging |
Het |
Rgs1 |
G |
T |
1: 144,121,995 (GRCm39) |
T99N |
probably benign |
Het |
Rnf6 |
T |
C |
5: 146,154,910 (GRCm39) |
|
probably null |
Het |
Rtp1 |
C |
A |
16: 23,249,940 (GRCm39) |
Q102K |
possibly damaging |
Het |
Sec24c |
T |
A |
14: 20,732,806 (GRCm39) |
V123E |
possibly damaging |
Het |
Serpini2 |
T |
C |
3: 75,165,014 (GRCm39) |
|
probably benign |
Het |
Stxbp5 |
A |
T |
10: 9,636,638 (GRCm39) |
|
probably benign |
Het |
Tecta |
A |
G |
9: 42,250,351 (GRCm39) |
S1809P |
probably damaging |
Het |
Tgfb2 |
T |
A |
1: 186,357,710 (GRCm39) |
I394F |
probably benign |
Het |
Thg1l |
T |
C |
11: 45,841,054 (GRCm39) |
Y175C |
possibly damaging |
Het |
Tmem67 |
C |
A |
4: 12,061,755 (GRCm39) |
K572N |
possibly damaging |
Het |
Tollip |
T |
C |
7: 141,445,825 (GRCm39) |
T19A |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,542,451 (GRCm39) |
Y25185H |
probably damaging |
Het |
Vgll2 |
A |
T |
10: 51,901,318 (GRCm39) |
R83* |
probably null |
Het |
Wfdc8 |
G |
T |
2: 164,445,123 (GRCm39) |
A164E |
probably damaging |
Het |
Ylpm1 |
T |
C |
12: 85,111,718 (GRCm39) |
|
probably benign |
Het |
Zfp326 |
T |
A |
5: 106,036,361 (GRCm39) |
S91T |
probably damaging |
Het |
Zfp638 |
T |
C |
6: 83,906,623 (GRCm39) |
F263L |
probably damaging |
Het |
Zfp800 |
G |
A |
6: 28,243,135 (GRCm39) |
T610I |
probably damaging |
Het |
Zmym4 |
A |
G |
4: 126,804,729 (GRCm39) |
F475L |
possibly damaging |
Het |
|
Other mutations in Iqca1l |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01383:Iqca1l
|
APN |
5 |
24,753,292 (GRCm39) |
missense |
probably benign |
0.03 |
IGL02110:Iqca1l
|
APN |
5 |
24,753,082 (GRCm39) |
splice site |
probably benign |
|
R0329:Iqca1l
|
UTSW |
5 |
24,750,783 (GRCm39) |
splice site |
probably null |
|
R0492:Iqca1l
|
UTSW |
5 |
24,759,626 (GRCm39) |
missense |
probably damaging |
1.00 |
R0585:Iqca1l
|
UTSW |
5 |
24,755,721 (GRCm39) |
missense |
probably benign |
|
R0656:Iqca1l
|
UTSW |
5 |
24,754,760 (GRCm39) |
missense |
possibly damaging |
0.67 |
R0894:Iqca1l
|
UTSW |
5 |
24,755,731 (GRCm39) |
splice site |
probably null |
|
R1546:Iqca1l
|
UTSW |
5 |
24,760,426 (GRCm39) |
splice site |
probably null |
|
R1642:Iqca1l
|
UTSW |
5 |
24,757,686 (GRCm39) |
missense |
probably damaging |
1.00 |
R1998:Iqca1l
|
UTSW |
5 |
24,750,004 (GRCm39) |
missense |
probably benign |
0.01 |
R2090:Iqca1l
|
UTSW |
5 |
24,755,674 (GRCm39) |
missense |
probably benign |
0.15 |
R2186:Iqca1l
|
UTSW |
5 |
24,759,524 (GRCm39) |
missense |
probably damaging |
1.00 |
R2237:Iqca1l
|
UTSW |
5 |
24,753,292 (GRCm39) |
missense |
probably benign |
0.03 |
R2256:Iqca1l
|
UTSW |
5 |
24,757,038 (GRCm39) |
utr 3 prime |
probably benign |
|
R2257:Iqca1l
|
UTSW |
5 |
24,757,038 (GRCm39) |
utr 3 prime |
probably benign |
|
R3078:Iqca1l
|
UTSW |
5 |
24,751,664 (GRCm39) |
missense |
probably benign |
|
R3522:Iqca1l
|
UTSW |
5 |
24,754,624 (GRCm39) |
critical splice donor site |
probably null |
|
R3910:Iqca1l
|
UTSW |
5 |
24,750,440 (GRCm39) |
splice site |
probably benign |
|
R3911:Iqca1l
|
UTSW |
5 |
24,750,440 (GRCm39) |
splice site |
probably benign |
|
R4333:Iqca1l
|
UTSW |
5 |
24,749,368 (GRCm39) |
missense |
probably damaging |
1.00 |
R4335:Iqca1l
|
UTSW |
5 |
24,749,368 (GRCm39) |
missense |
probably damaging |
1.00 |
R4500:Iqca1l
|
UTSW |
5 |
24,753,275 (GRCm39) |
missense |
possibly damaging |
0.85 |
R4761:Iqca1l
|
UTSW |
5 |
24,756,981 (GRCm39) |
missense |
probably benign |
|
R4773:Iqca1l
|
UTSW |
5 |
24,755,596 (GRCm39) |
critical splice donor site |
probably null |
|
R4880:Iqca1l
|
UTSW |
5 |
24,754,750 (GRCm39) |
missense |
probably benign |
|
R5839:Iqca1l
|
UTSW |
5 |
24,757,024 (GRCm39) |
missense |
probably damaging |
0.98 |
R5847:Iqca1l
|
UTSW |
5 |
24,749,164 (GRCm39) |
missense |
probably benign |
0.16 |
R7061:Iqca1l
|
UTSW |
5 |
24,750,063 (GRCm39) |
missense |
probably benign |
0.00 |
R7131:Iqca1l
|
UTSW |
5 |
24,753,954 (GRCm39) |
missense |
possibly damaging |
0.81 |
R7156:Iqca1l
|
UTSW |
5 |
24,757,648 (GRCm39) |
missense |
probably benign |
0.05 |
R7248:Iqca1l
|
UTSW |
5 |
24,749,269 (GRCm39) |
missense |
probably benign |
0.00 |
R7480:Iqca1l
|
UTSW |
5 |
24,751,904 (GRCm39) |
missense |
probably damaging |
1.00 |
R7693:Iqca1l
|
UTSW |
5 |
24,751,626 (GRCm39) |
missense |
probably benign |
0.01 |
R7782:Iqca1l
|
UTSW |
5 |
24,749,224 (GRCm39) |
missense |
probably damaging |
0.98 |
R7814:Iqca1l
|
UTSW |
5 |
24,750,420 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7898:Iqca1l
|
UTSW |
5 |
24,758,643 (GRCm39) |
missense |
probably damaging |
1.00 |
R8024:Iqca1l
|
UTSW |
5 |
24,755,634 (GRCm39) |
missense |
possibly damaging |
0.70 |
R8172:Iqca1l
|
UTSW |
5 |
24,748,608 (GRCm39) |
missense |
probably benign |
|
R8281:Iqca1l
|
UTSW |
5 |
24,754,008 (GRCm39) |
missense |
probably benign |
0.02 |
R8511:Iqca1l
|
UTSW |
5 |
24,750,906 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8888:Iqca1l
|
UTSW |
5 |
24,755,628 (GRCm39) |
missense |
probably benign |
0.20 |
R8895:Iqca1l
|
UTSW |
5 |
24,755,628 (GRCm39) |
missense |
probably benign |
0.20 |
R9246:Iqca1l
|
UTSW |
5 |
24,753,969 (GRCm39) |
missense |
probably benign |
0.22 |
R9450:Iqca1l
|
UTSW |
5 |
24,754,447 (GRCm39) |
missense |
probably benign |
0.13 |
X0063:Iqca1l
|
UTSW |
5 |
24,754,763 (GRCm39) |
splice site |
probably null |
|
Z1177:Iqca1l
|
UTSW |
5 |
24,755,793 (GRCm39) |
missense |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- CCAGACCATTCCCTTTCAGG -3'
(R):5'- AAGGGCCATCTCCACACTTG -3'
Sequencing Primer
(F):5'- TTCAGGGCCATGAGTGCCTTC -3'
(R):5'- GTTTCCCATTTCCCTGAGAGAAGAG -3'
|
Posted On |
2016-10-26 |