Incidental Mutation 'R0585:Iqca1l'
| ID |
55705 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Iqca1l
|
| Ensembl Gene |
ENSMUSG00000038199 |
| Gene Name |
IQ motif containing with AAA domain 1 like |
| Synonyms |
4931409K22Rik |
| MMRRC Submission |
038775-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.173)
|
| Stock # |
R0585 (G1)
|
| Quality Score |
153 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
24748432-24760467 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 24755721 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 267
(V267A)
|
| 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: V267A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000085642
Gene: ENSMUSG00000038199
AA Change: V267A
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.6%
- 20x: 95.2%
|
| Validation Efficiency |
100% (38/38) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Brdt |
T |
G |
5: 107,504,748 (GRCm39) |
|
probably null |
Het |
| Ccdc162 |
C |
T |
10: 41,462,375 (GRCm39) |
C1474Y |
probably benign |
Het |
| Ces2e |
T |
C |
8: 105,656,453 (GRCm39) |
S228P |
probably damaging |
Het |
| Clca3a1 |
G |
T |
3: 144,738,386 (GRCm39) |
H41N |
probably benign |
Het |
| Cyp2c39 |
A |
T |
19: 39,525,203 (GRCm39) |
I169F |
probably benign |
Het |
| Cyp2c65 |
A |
G |
19: 39,057,686 (GRCm39) |
K107R |
probably benign |
Het |
| Cyp2c67 |
T |
A |
19: 39,627,138 (GRCm39) |
N231Y |
possibly damaging |
Het |
| Eps8l3 |
G |
C |
3: 107,788,513 (GRCm39) |
D33H |
probably damaging |
Het |
| Evi5 |
T |
C |
5: 107,961,402 (GRCm39) |
|
probably benign |
Het |
| Fcho1 |
T |
C |
8: 72,168,369 (GRCm39) |
Y218C |
probably damaging |
Het |
| Gm3993 |
T |
A |
12: 20,122,149 (GRCm39) |
|
probably null |
Het |
| Gtf2ird1 |
A |
C |
5: 134,405,796 (GRCm39) |
L28R |
probably damaging |
Het |
| Hsf4 |
A |
G |
8: 105,997,663 (GRCm39) |
D75G |
probably damaging |
Het |
| Larp4b |
A |
G |
13: 9,197,529 (GRCm39) |
T249A |
probably damaging |
Het |
| Larp4b |
A |
G |
13: 9,220,737 (GRCm39) |
D578G |
probably benign |
Het |
| Lyz3 |
T |
A |
10: 117,074,356 (GRCm39) |
I44F |
possibly damaging |
Het |
| Matn3 |
A |
T |
12: 9,011,103 (GRCm39) |
|
probably benign |
Het |
| Myo10 |
T |
A |
15: 25,736,541 (GRCm39) |
Y428N |
probably damaging |
Het |
| Nf1 |
T |
A |
11: 79,459,527 (GRCm39) |
D661E |
probably damaging |
Het |
| Nktr |
A |
G |
9: 121,583,346 (GRCm39) |
|
probably benign |
Het |
| Npbwr1 |
G |
A |
1: 5,986,677 (GRCm39) |
T279I |
possibly damaging |
Het |
| Or52n3 |
A |
C |
7: 104,530,706 (GRCm39) |
H264P |
probably damaging |
Het |
| Osmr |
T |
C |
15: 6,867,274 (GRCm39) |
I341V |
probably benign |
Het |
| Pan2 |
T |
C |
10: 128,146,384 (GRCm39) |
|
probably null |
Het |
| Pknox2 |
G |
A |
9: 36,821,056 (GRCm39) |
|
probably benign |
Het |
| Pla2g2d |
A |
C |
4: 138,506,704 (GRCm39) |
D50A |
probably benign |
Het |
| Ptprk |
C |
T |
10: 28,451,664 (GRCm39) |
L1051F |
probably damaging |
Het |
| Rap1gds1 |
G |
A |
3: 138,727,633 (GRCm39) |
T59M |
probably benign |
Het |
| Rps5 |
T |
C |
7: 12,659,332 (GRCm39) |
V41A |
possibly damaging |
Het |
| Ryr1 |
G |
T |
7: 28,735,501 (GRCm39) |
D4092E |
probably damaging |
Het |
| Spic |
T |
C |
10: 88,511,905 (GRCm39) |
Y117C |
probably damaging |
Het |
| Thrap3 |
A |
T |
4: 126,072,367 (GRCm39) |
|
probably null |
Het |
| Tlr9 |
C |
T |
9: 106,102,275 (GRCm39) |
T522I |
probably benign |
Het |
| Tspan3 |
A |
T |
9: 56,053,216 (GRCm39) |
|
probably benign |
Het |
| Ttn |
T |
C |
2: 76,703,503 (GRCm39) |
|
probably benign |
Het |
| Zfp773 |
T |
A |
7: 7,135,574 (GRCm39) |
I341L |
probably benign |
Het |
| Zmat3 |
G |
A |
3: 32,415,254 (GRCm39) |
P19S |
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 |
|
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 |
|
|
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'- AAGTGTGGAGATGGCCCTTACAGC -3'
(R):5'- ACATTTGGGAGCCAATGAGGCG -3'
Sequencing Primer
(F):5'- CTTACAGCAGGGCTTGAGG -3'
(R):5'- ACAATTTCTCCTGATGCAGGC -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation