Incidental Mutation 'IGL01598:AU018091'
| ID |
91753 |
| 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 # |
IGL01598
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
3204498-3219029 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 3212110 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 204
(I204N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126800
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000171749]
[ENSMUST00000203937]
|
| AlphaFold |
E9PWS4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000171749
AA Change: I204N
PolyPhen 2
Score 0.713 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000126800
Gene: ENSMUSG00000054753
AA Change: I204N
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2410124H12Rik |
T |
A |
16: 92,275,817 (GRCm39) |
|
noncoding transcript |
Het |
| Apc2 |
T |
A |
10: 80,148,882 (GRCm39) |
L1283Q |
probably damaging |
Het |
| Apol6 |
G |
A |
15: 76,934,916 (GRCm39) |
A62T |
probably damaging |
Het |
| B4galnt4 |
G |
T |
7: 140,650,428 (GRCm39) |
R765L |
probably benign |
Het |
| Brca1 |
T |
C |
11: 101,415,156 (GRCm39) |
T993A |
probably benign |
Het |
| Cadps |
C |
T |
14: 12,522,202 (GRCm38) |
|
probably null |
Het |
| Ccdc177 |
A |
G |
12: 80,805,519 (GRCm39) |
S252P |
unknown |
Het |
| Cdc73 |
A |
G |
1: 143,575,017 (GRCm39) |
S59P |
probably damaging |
Het |
| Cep63 |
G |
T |
9: 102,467,657 (GRCm39) |
Q570K |
possibly damaging |
Het |
| Ces1c |
A |
T |
8: 93,845,041 (GRCm39) |
I120K |
probably benign |
Het |
| Cpeb1 |
T |
C |
7: 81,011,549 (GRCm39) |
M131V |
probably benign |
Het |
| Dync1h1 |
G |
A |
12: 110,624,562 (GRCm39) |
V3701I |
probably damaging |
Het |
| Fxr1 |
T |
C |
3: 34,118,381 (GRCm39) |
S535P |
possibly damaging |
Het |
| Gldc |
A |
T |
19: 30,111,156 (GRCm39) |
V540D |
probably damaging |
Het |
| Iqcf6 |
A |
G |
9: 106,504,707 (GRCm39) |
T124A |
probably benign |
Het |
| Itih4 |
A |
G |
14: 30,609,774 (GRCm39) |
I35V |
possibly damaging |
Het |
| Kmt2c |
T |
C |
5: 25,478,664 (GRCm39) |
*1525W |
probably null |
Het |
| Kmt2c |
A |
T |
5: 25,559,769 (GRCm39) |
V963E |
probably damaging |
Het |
| Lmnb2 |
T |
C |
10: 80,742,999 (GRCm39) |
S202G |
probably benign |
Het |
| Med23 |
T |
G |
10: 24,779,696 (GRCm39) |
S924R |
probably benign |
Het |
| Or5b102 |
T |
C |
19: 13,041,513 (GRCm39) |
V246A |
probably damaging |
Het |
| Pcif1 |
T |
C |
2: 164,728,531 (GRCm39) |
F263L |
possibly damaging |
Het |
| Pon2 |
A |
T |
6: 5,272,331 (GRCm39) |
L163H |
probably damaging |
Het |
| Scn1a |
C |
T |
2: 66,132,829 (GRCm39) |
V165M |
possibly damaging |
Het |
| Sema6d |
C |
A |
2: 124,507,018 (GRCm39) |
P961Q |
probably damaging |
Het |
| Snx27 |
A |
G |
3: 94,469,150 (GRCm39) |
Y64H |
probably damaging |
Het |
| Srsf11 |
C |
T |
3: 157,717,672 (GRCm39) |
|
probably benign |
Het |
| Taok1 |
A |
G |
11: 77,462,510 (GRCm39) |
V193A |
probably damaging |
Het |
| Tut4 |
A |
G |
4: 108,408,017 (GRCm39) |
|
probably benign |
Het |
| Vps13d |
T |
C |
4: 144,743,471 (GRCm39) |
T4137A |
probably benign |
Het |
| Zbtb26 |
T |
C |
2: 37,326,283 (GRCm39) |
Y251C |
probably 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 |
|
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 |
2013-12-09 |
Incidental Mutation