Incidental Mutation 'R8281:Iqca1l'
| ID |
638190 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Iqca1l
|
| Ensembl Gene |
ENSMUSG00000038199 |
| Gene Name |
IQ motif containing with AAA domain 1 like |
| Synonyms |
4931409K22Rik |
| MMRRC Submission |
067704-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.173)
|
| Stock # |
R8281 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
24748432-24760467 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 24754008 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 417
(H417L)
|
| 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: H417L
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000085642
Gene: ENSMUSG00000038199
AA Change: H417L
| 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 |
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 |
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 |
0.0670 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
98% (44/45) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam7 |
G |
A |
14: 68,745,334 (GRCm39) |
T630I |
possibly damaging |
Het |
| Adgrf3 |
T |
C |
5: 30,402,301 (GRCm39) |
S576G |
possibly damaging |
Het |
| Asxl1 |
A |
G |
2: 153,241,321 (GRCm39) |
R625G |
probably damaging |
Het |
| Atp1a1 |
A |
G |
3: 101,486,940 (GRCm39) |
F916L |
probably benign |
Het |
| Axl |
C |
T |
7: 25,463,379 (GRCm39) |
D633N |
probably benign |
Het |
| Ccdc168 |
T |
G |
1: 44,095,698 (GRCm39) |
D1800A |
possibly damaging |
Het |
| Chd9 |
A |
G |
8: 91,763,225 (GRCm39) |
D2350G |
probably damaging |
Het |
| Cic |
G |
A |
7: 24,971,249 (GRCm39) |
V327I |
probably benign |
Het |
| Crym |
T |
A |
7: 119,801,250 (GRCm39) |
|
probably benign |
Het |
| Cyp3a13 |
G |
C |
5: 137,892,559 (GRCm39) |
S495C |
probably benign |
Het |
| D5Ertd579e |
A |
T |
5: 36,770,664 (GRCm39) |
F137I |
|
Het |
| Dip2a |
T |
C |
10: 76,112,438 (GRCm39) |
T1087A |
probably damaging |
Het |
| Drc7 |
G |
A |
8: 95,788,805 (GRCm39) |
E288K |
possibly damaging |
Het |
| Epb41l4a |
T |
C |
18: 34,011,998 (GRCm39) |
E174G |
probably damaging |
Het |
| Ern2 |
T |
C |
7: 121,769,483 (GRCm39) |
R848G |
probably damaging |
Het |
| F13b |
G |
T |
1: 139,438,689 (GRCm39) |
R364S |
probably benign |
Het |
| F2rl1 |
A |
G |
13: 95,650,585 (GRCm39) |
L99P |
probably damaging |
Het |
| Fam193a |
C |
A |
5: 34,600,780 (GRCm39) |
N171K |
unknown |
Het |
| Fst |
A |
G |
13: 114,591,777 (GRCm39) |
S201P |
probably benign |
Het |
| Gm10110 |
C |
T |
14: 90,135,677 (GRCm39) |
V76M |
noncoding transcript |
Het |
| Gm8232 |
A |
G |
14: 44,674,548 (GRCm39) |
I182V |
|
Het |
| Kalrn |
C |
T |
16: 33,855,431 (GRCm39) |
W1956* |
probably null |
Het |
| Klk1b16 |
A |
G |
7: 43,790,971 (GRCm39) |
M258V |
probably benign |
Het |
| Lta4h |
G |
T |
10: 93,289,456 (GRCm39) |
D29Y |
probably damaging |
Het |
| Marchf7 |
C |
T |
2: 60,064,873 (GRCm39) |
S383L |
probably benign |
Het |
| Mob3c |
T |
C |
4: 115,688,635 (GRCm39) |
I56T |
probably benign |
Het |
| Msl2 |
T |
C |
9: 100,978,894 (GRCm39) |
S423P |
probably benign |
Het |
| Otop3 |
T |
C |
11: 115,235,901 (GRCm39) |
I511T |
possibly damaging |
Het |
| Pbld2 |
T |
G |
10: 62,883,805 (GRCm39) |
L90R |
probably damaging |
Het |
| Pcdh8 |
A |
G |
14: 80,006,919 (GRCm39) |
V548A |
probably damaging |
Het |
| Peg10 |
CATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAGGATC |
CATC |
6: 4,756,431 (GRCm39) |
|
probably benign |
Het |
| Plch2 |
T |
A |
4: 155,091,430 (GRCm39) |
M228L |
probably benign |
Het |
| Prkdc |
T |
C |
16: 15,523,117 (GRCm39) |
C1180R |
probably damaging |
Het |
| Rasl2-9 |
A |
T |
7: 5,128,351 (GRCm39) |
L193* |
probably null |
Het |
| Rbp3 |
A |
G |
14: 33,678,320 (GRCm39) |
K756R |
probably benign |
Het |
| Rp1 |
T |
C |
1: 4,418,139 (GRCm39) |
E991G |
probably damaging |
Het |
| Slc12a7 |
G |
A |
13: 73,938,796 (GRCm39) |
R191H |
probably damaging |
Het |
| Spaca6 |
A |
G |
17: 18,052,321 (GRCm39) |
N87S |
possibly damaging |
Het |
| Spata31e5 |
C |
T |
1: 28,817,225 (GRCm39) |
C269Y |
possibly damaging |
Het |
| Speer1h |
T |
A |
5: 11,647,646 (GRCm39) |
M128K |
probably damaging |
Het |
| Stab2 |
A |
T |
10: 86,709,728 (GRCm39) |
V1639E |
probably damaging |
Het |
| Thpo |
T |
C |
16: 20,544,525 (GRCm39) |
N235S |
possibly damaging |
Het |
| Tmem63b |
T |
A |
17: 45,971,722 (GRCm39) |
H831L |
probably benign |
Het |
| Tomm20l |
T |
C |
12: 71,158,241 (GRCm39) |
V8A |
probably benign |
Het |
| Trav13-5 |
A |
G |
14: 54,032,918 (GRCm39) |
R3G |
possibly damaging |
Het |
| Vill |
T |
C |
9: 118,887,547 (GRCm39) |
S104P |
probably 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 |
|
|
R5614:Iqca1l
|
UTSW |
5 |
24,755,140 (GRCm39) |
missense |
probably benign |
0.03 |
|
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 |
|
|
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'- AACCTGGTCTGAGATGCCAG -3'
(R):5'- GTCAAGCAGTTAAGCCTAGGGTAG -3'
Sequencing Primer
(F):5'- CTGAGATGCCAGGGTGGG -3'
(R):5'- GATAAGGAGGCTAGCTAGGGATCTC -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation