Incidental Mutation 'IGL02743:AW554918'
ID |
305989 |
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: 0.060)
|
Stock # |
IGL02743
|
Quality Score |
|
Status
|
|
Chromosome |
18 |
Chromosomal Location |
25302056-25600378 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to T
at 25423001 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Stop codon
at position 151
(Q151*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000095248
(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: Q151*
|
SMART Domains |
Protein: ENSMUSP00000046227 Gene: ENSMUSG00000033632 AA Change: Q151*
Domain | Start | End | E-Value | Type |
Pfam:KIAA1328
|
92 |
414 |
1.4e-154 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000097643
AA Change: Q151*
|
SMART Domains |
Protein: ENSMUSP00000095248 Gene: ENSMUSG00000033632 AA Change: Q151*
Domain | Start | End | E-Value | Type |
Pfam:KIAA1328
|
92 |
414 |
2.5e-154 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000100131
|
SMART Domains |
Protein: ENSMUSP00000097708 Gene: ENSMUSG00000033632
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 |
noncoding transcript
Transcript: ENSMUST00000162149
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000165400
|
SMART Domains |
Protein: ENSMUSP00000128437 Gene: ENSMUSG00000033632
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: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ambn |
A |
C |
5: 88,612,343 (GRCm39) |
D188A |
probably damaging |
Het |
Arfgef1 |
T |
C |
1: 10,270,054 (GRCm39) |
E365G |
probably benign |
Het |
Arhgef10 |
C |
T |
8: 14,980,198 (GRCm39) |
A146V |
probably benign |
Het |
Chd6 |
T |
C |
2: 160,802,183 (GRCm39) |
D2217G |
probably damaging |
Het |
Cntn5 |
T |
A |
9: 9,984,115 (GRCm39) |
E166V |
probably damaging |
Het |
Cyp4f15 |
T |
C |
17: 32,918,926 (GRCm39) |
S319P |
possibly damaging |
Het |
Dna2 |
G |
A |
10: 62,792,821 (GRCm39) |
V279I |
possibly damaging |
Het |
Edrf1 |
A |
G |
7: 133,258,220 (GRCm39) |
|
probably benign |
Het |
Fmo3 |
A |
T |
1: 162,786,052 (GRCm39) |
F313I |
probably damaging |
Het |
Kcnj10 |
A |
G |
1: 172,197,221 (GRCm39) |
D245G |
possibly damaging |
Het |
Lrsam1 |
T |
C |
2: 32,818,661 (GRCm39) |
|
probably null |
Het |
Mfn1 |
A |
T |
3: 32,628,439 (GRCm39) |
H690L |
probably benign |
Het |
Msh2 |
T |
C |
17: 88,014,643 (GRCm39) |
F474L |
probably damaging |
Het |
Nlrp4a |
T |
G |
7: 26,159,240 (GRCm39) |
|
probably benign |
Het |
Or2t44 |
T |
A |
11: 58,677,606 (GRCm39) |
L182* |
probably null |
Het |
Or4d10b |
A |
G |
19: 12,036,811 (GRCm39) |
F102L |
probably damaging |
Het |
Or4k45 |
T |
A |
2: 111,394,888 (GRCm39) |
R300S |
possibly damaging |
Het |
Or51f5 |
T |
A |
7: 102,424,505 (GRCm39) |
I258N |
probably damaging |
Het |
Or52n2c |
T |
C |
7: 104,574,075 (GRCm39) |
T299A |
probably damaging |
Het |
Or8g35 |
G |
A |
9: 39,381,542 (GRCm39) |
T160I |
probably benign |
Het |
Plcxd3 |
G |
A |
15: 4,604,285 (GRCm39) |
V298I |
possibly damaging |
Het |
Prrc2b |
C |
T |
2: 32,084,441 (GRCm39) |
S302F |
probably damaging |
Het |
Serpine2 |
A |
T |
1: 79,779,272 (GRCm39) |
F149I |
probably damaging |
Het |
Slc24a5 |
T |
C |
2: 124,930,154 (GRCm39) |
L485P |
probably damaging |
Het |
Spg11 |
T |
A |
2: 121,889,988 (GRCm39) |
H2118L |
probably damaging |
Het |
Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
Stxbp1 |
T |
C |
2: 32,709,913 (GRCm39) |
D60G |
probably damaging |
Het |
Themis2 |
T |
A |
4: 132,510,795 (GRCm39) |
E582D |
probably benign |
Het |
Tmem131 |
T |
G |
1: 36,832,232 (GRCm39) |
I1802L |
probably benign |
Het |
Tnrc6a |
A |
G |
7: 122,770,696 (GRCm39) |
K829E |
probably damaging |
Het |
Usp8 |
T |
C |
2: 126,575,943 (GRCm39) |
M213T |
probably damaging |
Het |
Wnk2 |
A |
G |
13: 49,248,920 (GRCm39) |
V377A |
probably damaging |
Het |
Wwox |
T |
G |
8: 116,078,443 (GRCm39) |
Y375D |
probably damaging |
Het |
|
Other mutations in AW554918 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00499:AW554918
|
APN |
18 |
25,553,122 (GRCm39) |
nonsense |
probably null |
|
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 |
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 |
2015-04-16 |