Incidental Mutation 'IGL00899:AU018091'
| ID |
27763 |
| 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: 0.156)
|
| Stock # |
IGL00899
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
3204498-3219029 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 3208603 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 442
(I442T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126800
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000171749]
[ENSMUST00000203937]
|
| AlphaFold |
E9PWS4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171749
AA Change: I442T
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000126800
Gene: ENSMUSG00000054753
AA Change: I442T
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bpifb9a |
T |
C |
2: 154,106,647 (GRCm39) |
|
probably null |
Het |
| Ccp110 |
T |
A |
7: 118,321,907 (GRCm39) |
C521S |
probably benign |
Het |
| Chd6 |
A |
G |
2: 160,871,218 (GRCm39) |
|
probably benign |
Het |
| Cndp2 |
A |
T |
18: 84,695,501 (GRCm39) |
D133E |
probably damaging |
Het |
| Crygs |
T |
C |
16: 22,625,312 (GRCm39) |
E43G |
possibly damaging |
Het |
| Ednra |
C |
T |
8: 78,401,700 (GRCm39) |
G197R |
probably damaging |
Het |
| Esyt1 |
A |
G |
10: 128,352,932 (GRCm39) |
L656P |
probably damaging |
Het |
| Ets1 |
C |
T |
9: 32,664,104 (GRCm39) |
P118L |
probably damaging |
Het |
| Fam98c |
A |
G |
7: 28,852,278 (GRCm39) |
|
probably benign |
Het |
| Foxi1 |
G |
A |
11: 34,155,772 (GRCm39) |
T286I |
probably benign |
Het |
| Gimap5 |
G |
A |
6: 48,730,107 (GRCm39) |
A226T |
possibly damaging |
Het |
| Heatr1 |
C |
T |
13: 12,450,057 (GRCm39) |
A2017V |
probably benign |
Het |
| Ikbkb |
T |
C |
8: 23,150,463 (GRCm39) |
S740G |
possibly damaging |
Het |
| Inppl1 |
A |
T |
7: 101,478,365 (GRCm39) |
I617N |
probably damaging |
Het |
| Itpkb |
T |
C |
1: 180,160,558 (GRCm39) |
L228P |
probably benign |
Het |
| Kcnc4 |
T |
A |
3: 107,365,779 (GRCm39) |
D143V |
possibly damaging |
Het |
| Krtdap |
T |
A |
7: 30,489,387 (GRCm39) |
|
probably null |
Het |
| Lilra6 |
T |
A |
7: 3,916,056 (GRCm39) |
T268S |
probably damaging |
Het |
| M6pr |
A |
G |
6: 122,292,354 (GRCm39) |
E183G |
possibly damaging |
Het |
| Muc5ac |
T |
A |
7: 141,366,440 (GRCm39) |
V2168D |
possibly damaging |
Het |
| Nbea |
A |
G |
3: 55,550,266 (GRCm39) |
S2721P |
probably benign |
Het |
| Or1j20 |
A |
T |
2: 36,760,222 (GRCm39) |
I215L |
probably benign |
Het |
| Pqbp1 |
T |
C |
X: 7,762,243 (GRCm39) |
N94S |
probably benign |
Het |
| Prl3d2 |
T |
C |
13: 27,306,332 (GRCm39) |
S20P |
probably damaging |
Het |
| Psmb2 |
T |
C |
4: 126,601,350 (GRCm39) |
I151T |
probably benign |
Het |
| Rapgef6 |
G |
T |
11: 54,510,844 (GRCm39) |
E107* |
probably null |
Het |
| Slc2a13 |
T |
C |
15: 91,381,602 (GRCm39) |
T296A |
probably benign |
Het |
| Tcl1b4 |
A |
G |
12: 105,170,916 (GRCm39) |
T55A |
probably damaging |
Het |
| Tg |
T |
C |
15: 66,545,922 (GRCm39) |
|
probably null |
Het |
| Trim80 |
T |
G |
11: 115,338,491 (GRCm39) |
N440K |
probably benign |
Het |
| Ttc13 |
C |
T |
8: 125,415,586 (GRCm39) |
|
probably benign |
Het |
| Ttc38 |
T |
A |
15: 85,728,663 (GRCm39) |
I205N |
possibly damaging |
Het |
| Ufl1 |
T |
C |
4: 25,262,238 (GRCm39) |
D336G |
probably damaging |
Het |
| Vmn2r74 |
A |
T |
7: 85,606,338 (GRCm39) |
I336K |
probably benign |
Het |
| Zbtb26 |
G |
T |
2: 37,326,270 (GRCm39) |
Y255* |
probably null |
Het |
| Zfp462 |
T |
A |
4: 55,007,732 (GRCm39) |
V57E |
probably damaging |
Het |
|
| Other mutations in AU018091 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
IGL03386:AU018091
|
APN |
7 |
3,211,107 (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 |
2013-04-17 |
Incidental Mutation