Incidental Mutation 'IGL03386:AU018091'
| ID |
420868 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
AU018091
|
| Ensembl Gene |
ENSMUSG00000054753 |
| Gene Name |
expressed sequence AU018091 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.202)
|
| Stock # |
IGL03386
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
3204498-3219029 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 3211107 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 274
(Y274C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126800
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000171749]
[ENSMUST00000203937]
|
| AlphaFold |
E9PWS4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000171749
AA Change: Y274C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000126800
Gene: ENSMUSG00000054753
AA Change: Y274C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AA_permease_2
|
82 |
504 |
2.9e-47 |
PFAM |
|
Pfam:AA_permease
|
86 |
481 |
3.5e-31 |
PFAM |
|
transmembrane domain
|
541 |
563 |
N/A |
INTRINSIC |
|
transmembrane domain
|
573 |
593 |
N/A |
INTRINSIC |
|
Pfam:AA_permease_C
|
604 |
654 |
9.4e-28 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203937
|
| SMART Domains |
Protein: ENSMUSP00000144796
Gene: ENSMUSG00000054753
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AA_permease_2
|
73 |
177 |
7.9e-11 |
PFAM |
|
Pfam:AA_permease
|
77 |
176 |
3.1e-8 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205185
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arid2 |
T |
C |
15: 96,259,455 (GRCm39) |
F236L |
probably damaging |
Het |
| BC024139 |
A |
G |
15: 76,005,945 (GRCm39) |
F419L |
probably benign |
Het |
| Cd300ld |
T |
G |
11: 114,874,998 (GRCm39) |
D212A |
probably benign |
Het |
| Ces1g |
T |
C |
8: 94,052,440 (GRCm39) |
H283R |
probably benign |
Het |
| Chac2 |
T |
A |
11: 30,927,720 (GRCm39) |
K66N |
probably benign |
Het |
| Emc1 |
T |
C |
4: 139,091,092 (GRCm39) |
|
probably null |
Het |
| Eml6 |
G |
A |
11: 29,699,934 (GRCm39) |
A1734V |
probably benign |
Het |
| Erich3 |
G |
A |
3: 154,444,876 (GRCm39) |
E548K |
possibly damaging |
Het |
| Gm3604 |
T |
A |
13: 62,517,981 (GRCm39) |
E105D |
possibly damaging |
Het |
| Gpr158 |
A |
G |
2: 21,831,057 (GRCm39) |
K719R |
probably damaging |
Het |
| Heatr6 |
T |
C |
11: 83,650,203 (GRCm39) |
S220P |
probably damaging |
Het |
| Kcnip4 |
T |
C |
5: 48,639,889 (GRCm39) |
Y74C |
probably damaging |
Het |
| Kmt2b |
T |
C |
7: 30,273,396 (GRCm39) |
H2380R |
possibly damaging |
Het |
| Lars2 |
A |
T |
9: 123,282,455 (GRCm39) |
K680* |
probably null |
Het |
| Macc1 |
T |
A |
12: 119,409,598 (GRCm39) |
M122K |
probably benign |
Het |
| Pbrm1 |
A |
G |
14: 30,772,049 (GRCm39) |
D381G |
probably damaging |
Het |
| Phf11d |
A |
G |
14: 59,599,309 (GRCm39) |
|
probably benign |
Het |
| Qrsl1 |
A |
G |
10: 43,752,546 (GRCm39) |
Y426H |
possibly damaging |
Het |
| Riok1 |
T |
A |
13: 38,241,213 (GRCm39) |
L456* |
probably null |
Het |
| Rps6kc1 |
A |
G |
1: 190,531,767 (GRCm39) |
L745P |
probably damaging |
Het |
| Sh3tc2 |
A |
T |
18: 62,106,382 (GRCm39) |
H137L |
probably benign |
Het |
| Shoc1 |
T |
C |
4: 59,069,315 (GRCm39) |
K704E |
possibly damaging |
Het |
| Shroom3 |
T |
A |
5: 93,096,342 (GRCm39) |
|
probably benign |
Het |
| Stac2 |
T |
A |
11: 97,931,966 (GRCm39) |
Q103L |
possibly damaging |
Het |
| Thnsl1 |
G |
A |
2: 21,216,359 (GRCm39) |
A38T |
probably benign |
Het |
| Traf3ip2 |
A |
G |
10: 39,521,704 (GRCm39) |
I421V |
probably benign |
Het |
| Vmn2r14 |
T |
C |
5: 109,368,350 (GRCm39) |
D214G |
possibly damaging |
Het |
|
| Other mutations in AU018091 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00899:AU018091
|
APN |
7 |
3,208,603 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01063:AU018091
|
APN |
7 |
3,212,153 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
IGL01598:AU018091
|
APN |
7 |
3,212,110 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
IGL03253:AU018091
|
APN |
7 |
3,214,002 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02835:AU018091
|
UTSW |
7 |
3,218,897 (GRCm39) |
missense |
unknown |
|
|
R0070:AU018091
|
UTSW |
7 |
3,208,738 (GRCm39) |
splice site |
probably null |
|
|
R0070:AU018091
|
UTSW |
7 |
3,208,738 (GRCm39) |
splice site |
probably null |
|
|
R0733:AU018091
|
UTSW |
7 |
3,209,001 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1221:AU018091
|
UTSW |
7 |
3,208,717 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1467:AU018091
|
UTSW |
7 |
3,214,089 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1467:AU018091
|
UTSW |
7 |
3,214,089 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1708:AU018091
|
UTSW |
7 |
3,206,184 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1990:AU018091
|
UTSW |
7 |
3,212,104 (GRCm39) |
missense |
probably benign |
0.25 |
|
R4043:AU018091
|
UTSW |
7 |
3,208,962 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4369:AU018091
|
UTSW |
7 |
3,207,815 (GRCm39) |
nonsense |
probably null |
|
|
R4501:AU018091
|
UTSW |
7 |
3,208,919 (GRCm39) |
missense |
probably benign |
0.25 |
|
R4595:AU018091
|
UTSW |
7 |
3,208,268 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4853:AU018091
|
UTSW |
7 |
3,205,861 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6834:AU018091
|
UTSW |
7 |
3,207,795 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6836:AU018091
|
UTSW |
7 |
3,213,986 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6941:AU018091
|
UTSW |
7 |
3,209,267 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7153:AU018091
|
UTSW |
7 |
3,209,353 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7196:AU018091
|
UTSW |
7 |
3,213,788 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7237:AU018091
|
UTSW |
7 |
3,209,006 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7366:AU018091
|
UTSW |
7 |
3,206,170 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7956:AU018091
|
UTSW |
7 |
3,211,095 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9421:AU018091
|
UTSW |
7 |
3,208,085 (GRCm39) |
missense |
probably benign |
0.12 |
|
R9492:AU018091
|
UTSW |
7 |
3,214,023 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9700:AU018091
|
UTSW |
7 |
3,208,165 (GRCm39) |
missense |
probably benign |
|
|
R9720:AU018091
|
UTSW |
7 |
3,209,272 (GRCm39) |
missense |
probably benign |
0.12 |
|
R9796:AU018091
|
UTSW |
7 |
3,213,785 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation