Incidental Mutation 'IGL01392:Gm7168'
ID |
79242 |
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: 0.070)
|
Stock # |
IGL01392
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
14168635-14170940 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 14169169 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Asparagine
at position 179
(D179N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000094997
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088809]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000088809
AA Change: D179N
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000094997 Gene: ENSMUSG00000067941 AA Change: D179N
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: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acvr1 |
A |
G |
2: 58,390,558 (GRCm39) |
V2A |
probably benign |
Het |
Adgrf5 |
A |
T |
17: 43,760,903 (GRCm39) |
Q866L |
probably benign |
Het |
Ankrd13a |
A |
G |
5: 114,935,914 (GRCm39) |
E295G |
probably benign |
Het |
Arid1a |
T |
C |
4: 133,408,348 (GRCm39) |
D2053G |
unknown |
Het |
Calr4 |
A |
G |
4: 109,111,071 (GRCm39) |
E272G |
probably benign |
Het |
Cmya5 |
T |
C |
13: 93,225,714 (GRCm39) |
S3125G |
probably damaging |
Het |
Dnah7b |
T |
C |
1: 46,165,948 (GRCm39) |
Y538H |
probably damaging |
Het |
Eri3 |
T |
C |
4: 117,446,356 (GRCm39) |
|
probably null |
Het |
Fmo6 |
T |
A |
1: 162,757,580 (GRCm39) |
R63* |
probably null |
Het |
Got1l1 |
T |
C |
8: 27,688,019 (GRCm39) |
T337A |
probably damaging |
Het |
Gvin-ps3 |
T |
C |
7: 105,682,962 (GRCm39) |
I98V |
probably benign |
Het |
Igf2r |
A |
G |
17: 12,923,236 (GRCm39) |
M1191T |
probably benign |
Het |
Ighv1-54 |
A |
G |
12: 115,157,557 (GRCm39) |
L30P |
probably damaging |
Het |
Igkv8-30 |
A |
G |
6: 70,094,331 (GRCm39) |
S27P |
probably benign |
Het |
Kcnab2 |
A |
T |
4: 152,478,254 (GRCm39) |
V335E |
possibly damaging |
Het |
Klf12 |
A |
T |
14: 100,387,193 (GRCm39) |
I3N |
probably damaging |
Het |
Megf8 |
T |
C |
7: 25,063,174 (GRCm39) |
V2510A |
probably benign |
Het |
Mme |
A |
G |
3: 63,269,467 (GRCm39) |
D592G |
probably damaging |
Het |
Myh1 |
A |
G |
11: 67,112,127 (GRCm39) |
N1727S |
probably benign |
Het |
Ncor1 |
A |
G |
11: 62,231,420 (GRCm39) |
S796P |
probably damaging |
Het |
Nlrp14 |
A |
G |
7: 106,797,120 (GRCm39) |
|
probably benign |
Het |
Or51f23 |
T |
A |
7: 102,453,061 (GRCm39) |
Y125* |
probably null |
Het |
Or5b95 |
T |
A |
19: 12,658,167 (GRCm39) |
Y232N |
probably benign |
Het |
Or5p80 |
C |
T |
7: 108,229,885 (GRCm39) |
R229C |
probably benign |
Het |
Plekhm2 |
A |
G |
4: 141,369,737 (GRCm39) |
V86A |
probably damaging |
Het |
Popdc2 |
G |
T |
16: 38,194,493 (GRCm39) |
V305L |
probably benign |
Het |
Prb1b |
T |
C |
6: 132,289,383 (GRCm39) |
N147S |
unknown |
Het |
Rttn |
C |
T |
18: 89,013,737 (GRCm39) |
H469Y |
probably benign |
Het |
Slc2a12 |
T |
C |
10: 22,540,583 (GRCm39) |
V146A |
probably damaging |
Het |
Sptlc3 |
A |
G |
2: 139,388,341 (GRCm39) |
E111G |
possibly damaging |
Het |
Zfp108 |
T |
C |
7: 23,957,872 (GRCm39) |
|
probably benign |
Het |
Zfp719 |
T |
A |
7: 43,240,554 (GRCm39) |
F714Y |
probably damaging |
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 |
IGL01577:Gm7168
|
APN |
17 |
14,169,649 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01691:Gm7168
|
APN |
17 |
14,169,140 (GRCm39) |
missense |
probably damaging |
0.96 |
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 |
2013-11-05 |