Incidental Mutation 'IGL00499:AW554918'
| ID |
332236 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
AW554918
|
| Ensembl Gene |
ENSMUSG00000033632 |
| Gene Name |
expressed sequence AW554918 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.063)
|
| Stock # |
IGL00499
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
25302056-25600378 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 25553122 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Stop codon
at position 542
(K542*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128437
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036619]
[ENSMUST00000097643]
[ENSMUST00000100131]
[ENSMUST00000159605]
[ENSMUST00000160530]
[ENSMUST00000165400]
|
| AlphaFold |
Q6NZK5 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000036619
AA Change: K509*
|
| SMART Domains |
Protein: ENSMUSP00000046227
Gene: ENSMUSG00000033632
AA Change: K509*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:KIAA1328
|
92 |
414 |
1.4e-154 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000097643
AA Change: K542*
|
| SMART Domains |
Protein: ENSMUSP00000095248
Gene: ENSMUSG00000033632
AA Change: K542*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:KIAA1328
|
92 |
414 |
2.5e-154 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000100131
AA Change: K306*
|
| SMART Domains |
Protein: ENSMUSP00000097708
Gene: ENSMUSG00000033632
AA Change: K306*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:KIAA1328
|
1 |
211 |
9.6e-81 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159605
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160530
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000165400
AA Change: K542*
|
| SMART Domains |
Protein: ENSMUSP00000128437
Gene: ENSMUSG00000033632
AA Change: K542*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:KIAA1328
|
92 |
414 |
1.6e-160 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930533K18Rik |
C |
A |
10: 70,711,138 (GRCm39) |
|
noncoding transcript |
Het |
| Abcb9 |
T |
C |
5: 124,215,301 (GRCm39) |
D480G |
possibly damaging |
Het |
| Adam26a |
A |
T |
8: 44,021,896 (GRCm39) |
N531K |
possibly damaging |
Het |
| Blk |
A |
G |
14: 63,618,169 (GRCm39) |
F246L |
probably damaging |
Het |
| Camk1 |
T |
C |
6: 113,313,172 (GRCm39) |
E292G |
probably benign |
Het |
| Ccdc88a |
C |
T |
11: 29,449,341 (GRCm39) |
T261I |
probably benign |
Het |
| Cep290 |
A |
T |
10: 100,379,189 (GRCm39) |
Q57L |
probably damaging |
Het |
| Cpsf1 |
A |
T |
15: 76,484,416 (GRCm39) |
H688Q |
probably benign |
Het |
| Cryz |
T |
C |
3: 154,310,579 (GRCm39) |
V13A |
possibly damaging |
Het |
| Dst |
A |
G |
1: 34,329,504 (GRCm39) |
K6858R |
probably damaging |
Het |
| Dync2h1 |
A |
T |
9: 7,168,700 (GRCm39) |
V371E |
possibly damaging |
Het |
| Eps8 |
C |
A |
6: 137,499,886 (GRCm39) |
E181* |
probably null |
Het |
| Flt4 |
T |
C |
11: 49,526,088 (GRCm39) |
I796T |
probably damaging |
Het |
| Gmps |
A |
G |
3: 63,921,788 (GRCm39) |
N597S |
probably benign |
Het |
| Itgav |
T |
A |
2: 83,633,339 (GRCm39) |
M1011K |
probably damaging |
Het |
| Kif16b |
A |
G |
2: 142,699,244 (GRCm39) |
M112T |
probably damaging |
Het |
| Lig1 |
T |
C |
7: 13,032,756 (GRCm39) |
|
probably null |
Het |
| Lrrc30 |
A |
G |
17: 67,939,034 (GRCm39) |
F182S |
probably damaging |
Het |
| Oxsm |
A |
T |
14: 16,242,076 (GRCm38) |
M231K |
probably damaging |
Het |
| Pnisr |
T |
C |
4: 21,870,407 (GRCm39) |
|
probably null |
Het |
| Rsrc1 |
A |
T |
3: 66,989,933 (GRCm39) |
|
probably benign |
Het |
| Setd1b |
A |
T |
5: 123,296,810 (GRCm39) |
|
probably benign |
Het |
| Tbx6 |
A |
G |
7: 126,380,701 (GRCm39) |
Y8C |
probably damaging |
Het |
| Tmem33 |
T |
C |
5: 67,441,538 (GRCm39) |
Y196H |
probably damaging |
Het |
| Traf5 |
T |
C |
1: 191,741,589 (GRCm39) |
D96G |
possibly damaging |
Het |
| Tsc22d1 |
T |
A |
14: 76,656,357 (GRCm39) |
D945E |
probably damaging |
Het |
| Tubb2b |
T |
C |
13: 34,312,329 (GRCm39) |
I155V |
probably benign |
Het |
| Usp13 |
T |
A |
3: 32,935,560 (GRCm39) |
Y328N |
probably damaging |
Het |
| Usp17lc |
G |
A |
7: 103,067,673 (GRCm39) |
D323N |
probably damaging |
Het |
| Usp17lc |
G |
A |
7: 103,067,672 (GRCm39) |
M322I |
probably damaging |
Het |
| Zfp341 |
C |
T |
2: 154,476,151 (GRCm39) |
T446I |
probably damaging |
Het |
| Zfp407 |
A |
G |
18: 84,579,877 (GRCm39) |
L412P |
probably damaging |
Het |
| Zfp521 |
T |
A |
18: 14,072,177 (GRCm39) |
D21V |
probably benign |
Het |
| Zranb1 |
A |
G |
7: 132,584,233 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in AW554918 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01443:AW554918
|
APN |
18 |
25,478,012 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01973:AW554918
|
APN |
18 |
25,553,056 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02743:AW554918
|
APN |
18 |
25,423,001 (GRCm39) |
nonsense |
probably null |
|
|
PIT4802001:AW554918
|
UTSW |
18 |
25,473,132 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0081:AW554918
|
UTSW |
18 |
25,477,959 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0567:AW554918
|
UTSW |
18 |
25,533,092 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R0709:AW554918
|
UTSW |
18 |
25,596,711 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1052:AW554918
|
UTSW |
18 |
25,553,067 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1418:AW554918
|
UTSW |
18 |
25,472,756 (GRCm39) |
splice site |
probably null |
|
|
R1530:AW554918
|
UTSW |
18 |
25,533,161 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2406:AW554918
|
UTSW |
18 |
25,473,344 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R3414:AW554918
|
UTSW |
18 |
25,533,129 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R3815:AW554918
|
UTSW |
18 |
25,533,104 (GRCm39) |
missense |
probably benign |
0.42 |
|
R4683:AW554918
|
UTSW |
18 |
25,472,852 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4722:AW554918
|
UTSW |
18 |
25,307,772 (GRCm39) |
nonsense |
probably null |
|
|
R4843:AW554918
|
UTSW |
18 |
25,473,057 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5199:AW554918
|
UTSW |
18 |
25,473,356 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5279:AW554918
|
UTSW |
18 |
25,308,488 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5580:AW554918
|
UTSW |
18 |
25,472,922 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7259:AW554918
|
UTSW |
18 |
25,422,906 (GRCm39) |
splice site |
probably null |
|
|
R7388:AW554918
|
UTSW |
18 |
25,473,170 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7399:AW554918
|
UTSW |
18 |
25,302,117 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R8249:AW554918
|
UTSW |
18 |
25,472,775 (GRCm39) |
missense |
probably benign |
0.33 |
|
R8905:AW554918
|
UTSW |
18 |
25,473,206 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8916:AW554918
|
UTSW |
18 |
25,423,049 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9256:AW554918
|
UTSW |
18 |
25,423,061 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9794:AW554918
|
UTSW |
18 |
25,337,031 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-08-05 |
Incidental Mutation