Incidental Mutation 'IGL01691:Gm7168'
| ID |
104103 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gm7168
|
| Ensembl Gene |
ENSMUSG00000067941 |
| Gene Name |
predicted gene 7168 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.067)
|
| Stock # |
IGL01691
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
14168635-14170940 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 14169140 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Asparagine
at position 169
(S169N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000094997
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088809]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000088809
AA Change: S169N
PolyPhen 2
Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000094997
Gene: ENSMUSG00000067941
AA Change: S169N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
20 |
N/A |
INTRINSIC |
|
S_TKc
|
28 |
276 |
5.25e-91 |
SMART |
|
UBA
|
296 |
333 |
4.39e-2 |
SMART |
|
low complexity region
|
436 |
451 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actl6a |
T |
A |
3: 32,774,349 (GRCm39) |
M282K |
possibly damaging |
Het |
| Adam22 |
T |
C |
5: 8,142,742 (GRCm39) |
N831S |
probably damaging |
Het |
| Adamdec1 |
C |
T |
14: 68,810,556 (GRCm39) |
R200Q |
probably damaging |
Het |
| Asb15 |
A |
G |
6: 24,567,271 (GRCm39) |
I531V |
probably benign |
Het |
| Btrc |
T |
A |
19: 45,501,117 (GRCm39) |
D223E |
probably benign |
Het |
| Ccdc30 |
T |
A |
4: 119,250,761 (GRCm39) |
E161V |
probably damaging |
Het |
| Cd38 |
G |
A |
5: 44,060,928 (GRCm39) |
|
probably benign |
Het |
| Clec2d |
T |
C |
6: 129,161,185 (GRCm39) |
F94S |
probably damaging |
Het |
| Cwf19l1 |
C |
T |
19: 44,109,311 (GRCm39) |
|
probably null |
Het |
| Dnah2 |
A |
T |
11: 69,430,269 (GRCm39) |
N96K |
probably benign |
Het |
| Ephb6 |
G |
A |
6: 41,591,449 (GRCm39) |
R202H |
probably benign |
Het |
| Gm43191 |
T |
A |
3: 116,471,616 (GRCm39) |
I218L |
probably benign |
Het |
| Gm7964 |
T |
C |
7: 83,405,344 (GRCm39) |
|
noncoding transcript |
Het |
| Kif20b |
T |
C |
19: 34,913,143 (GRCm39) |
|
probably benign |
Het |
| Kmt2e |
A |
G |
5: 23,702,089 (GRCm39) |
T906A |
probably benign |
Het |
| Mboat2 |
A |
G |
12: 25,004,221 (GRCm39) |
N341D |
probably damaging |
Het |
| Msh6 |
T |
C |
17: 88,292,907 (GRCm39) |
V554A |
probably benign |
Het |
| Ndc80 |
T |
C |
17: 71,815,634 (GRCm39) |
T384A |
possibly damaging |
Het |
| Or1af1 |
G |
T |
2: 37,110,038 (GRCm39) |
C179F |
probably damaging |
Het |
| Or8g18 |
G |
A |
9: 39,149,315 (GRCm39) |
T135I |
probably benign |
Het |
| Ptpn5 |
G |
T |
7: 46,732,906 (GRCm39) |
H312Q |
probably benign |
Het |
| Rftn2 |
C |
T |
1: 55,253,445 (GRCm39) |
V53I |
probably damaging |
Het |
| Rgs20 |
T |
C |
1: 4,987,145 (GRCm39) |
T124A |
probably benign |
Het |
| Sox18 |
T |
C |
2: 181,313,143 (GRCm39) |
S58G |
possibly damaging |
Het |
| Togaram2 |
A |
G |
17: 72,036,485 (GRCm39) |
M1012V |
probably null |
Het |
| Usp48 |
A |
T |
4: 137,350,583 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Gm7168 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01298:Gm7168
|
APN |
17 |
14,170,120 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01392:Gm7168
|
APN |
17 |
14,169,169 (GRCm39) |
missense |
probably benign |
|
|
IGL01577:Gm7168
|
APN |
17 |
14,169,649 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0064:Gm7168
|
UTSW |
17 |
14,170,121 (GRCm39) |
missense |
probably benign |
0.21 |
|
R0611:Gm7168
|
UTSW |
17 |
14,169,797 (GRCm39) |
missense |
probably benign |
|
|
R0737:Gm7168
|
UTSW |
17 |
14,169,245 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1789:Gm7168
|
UTSW |
17 |
14,169,846 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2864:Gm7168
|
UTSW |
17 |
14,170,117 (GRCm39) |
missense |
probably benign |
0.42 |
|
R2865:Gm7168
|
UTSW |
17 |
14,170,117 (GRCm39) |
missense |
probably benign |
0.42 |
|
R4179:Gm7168
|
UTSW |
17 |
14,169,265 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4652:Gm7168
|
UTSW |
17 |
14,170,069 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5174:Gm7168
|
UTSW |
17 |
14,168,717 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5722:Gm7168
|
UTSW |
17 |
14,169,824 (GRCm39) |
missense |
probably benign |
|
|
R6180:Gm7168
|
UTSW |
17 |
14,168,858 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7195:Gm7168
|
UTSW |
17 |
14,169,622 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7366:Gm7168
|
UTSW |
17 |
14,170,147 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7490:Gm7168
|
UTSW |
17 |
14,169,275 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7748:Gm7168
|
UTSW |
17 |
14,168,914 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8113:Gm7168
|
UTSW |
17 |
14,169,238 (GRCm39) |
nonsense |
probably null |
|
|
R8201:Gm7168
|
UTSW |
17 |
14,170,042 (GRCm39) |
missense |
probably benign |
|
|
R9197:Gm7168
|
UTSW |
17 |
14,169,489 (GRCm39) |
missense |
probably benign |
0.13 |
|
R9260:Gm7168
|
UTSW |
17 |
14,169,488 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9520:Gm7168
|
UTSW |
17 |
14,169,506 (GRCm39) |
missense |
probably benign |
|
|
X0020:Gm7168
|
UTSW |
17 |
14,169,998 (GRCm39) |
missense |
probably benign |
0.04 |
|
Z1177:Gm7168
|
UTSW |
17 |
14,170,019 (GRCm39) |
missense |
probably benign |
0.22 |
|
Z1177:Gm7168
|
UTSW |
17 |
14,169,932 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Gm7168
|
UTSW |
17 |
14,169,344 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2014-01-21 |
Incidental Mutation