Incidental Mutation 'IGL02021:Gm4922'
| ID |
183957 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gm4922
|
| Ensembl Gene |
ENSMUSG00000044624 |
| Gene Name |
predicted gene 4922 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02021
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
18655475-18662541 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 18660225 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Tryptophan
at position 166
(G166W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149756
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055107]
[ENSMUST00000216654]
|
| AlphaFold |
Q8C0N0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000055107
AA Change: G166W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000055273
Gene: ENSMUSG00000044624
AA Change: G166W
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
13 |
N/A |
INTRINSIC |
|
S_TKc
|
28 |
275 |
1.92e-75 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215162
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000216654
AA Change: G166W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002L01Rik |
G |
A |
12: 3,457,890 (GRCm39) |
|
probably benign |
Het |
| Adam10 |
C |
T |
9: 70,651,191 (GRCm39) |
T72I |
possibly damaging |
Het |
| Adam26b |
T |
A |
8: 43,972,909 (GRCm39) |
M698L |
probably benign |
Het |
| Ankrd27 |
A |
T |
7: 35,313,881 (GRCm39) |
H404L |
probably damaging |
Het |
| Atp1a1 |
T |
C |
3: 101,501,524 (GRCm39) |
S60G |
probably benign |
Het |
| Bcat1 |
T |
C |
6: 144,993,015 (GRCm39) |
|
probably benign |
Het |
| Cd177 |
G |
A |
7: 24,444,631 (GRCm39) |
A650V |
probably benign |
Het |
| Cmya5 |
T |
C |
13: 93,231,057 (GRCm39) |
N1344D |
probably benign |
Het |
| Ctsd |
G |
T |
7: 141,939,213 (GRCm39) |
L71I |
probably damaging |
Het |
| Dctn2 |
T |
C |
10: 127,110,926 (GRCm39) |
|
probably null |
Het |
| Ddr1 |
G |
A |
17: 35,994,372 (GRCm39) |
A801V |
probably damaging |
Het |
| Dennd2b |
T |
C |
7: 109,156,579 (GRCm39) |
Y57C |
probably damaging |
Het |
| Duoxa1 |
A |
G |
2: 122,135,127 (GRCm39) |
F251S |
probably benign |
Het |
| Fcho1 |
A |
C |
8: 72,173,919 (GRCm39) |
S2A |
probably benign |
Het |
| Gm4861 |
T |
C |
3: 137,257,871 (GRCm39) |
|
probably null |
Het |
| Hic2 |
A |
G |
16: 17,076,617 (GRCm39) |
E482G |
probably benign |
Het |
| Hoxa5 |
C |
T |
6: 52,179,637 (GRCm39) |
R246K |
probably damaging |
Het |
| Ipo11 |
A |
T |
13: 106,993,745 (GRCm39) |
F721I |
probably damaging |
Het |
| Lama1 |
A |
T |
17: 68,128,621 (GRCm39) |
S2993C |
probably damaging |
Het |
| Lonp2 |
T |
A |
8: 87,435,599 (GRCm39) |
S612T |
probably benign |
Het |
| Lpar5 |
T |
G |
6: 125,058,955 (GRCm39) |
Y225* |
probably null |
Het |
| Map4k3 |
A |
G |
17: 80,917,255 (GRCm39) |
Y574H |
probably damaging |
Het |
| Msantd4 |
A |
G |
9: 4,385,163 (GRCm39) |
E296G |
probably damaging |
Het |
| Ncs1 |
A |
G |
2: 31,174,177 (GRCm39) |
D109G |
probably damaging |
Het |
| Nnt |
T |
C |
13: 119,472,783 (GRCm39) |
|
probably benign |
Het |
| Nr1h5 |
T |
C |
3: 102,855,058 (GRCm39) |
|
probably benign |
Het |
| Or2ag20 |
A |
T |
7: 106,464,696 (GRCm39) |
K170* |
probably null |
Het |
| Or4g7 |
A |
G |
2: 111,309,825 (GRCm39) |
D232G |
probably benign |
Het |
| Plk4 |
A |
G |
3: 40,765,143 (GRCm39) |
D595G |
probably damaging |
Het |
| Rbm17 |
C |
A |
2: 11,600,249 (GRCm39) |
|
probably benign |
Het |
| Slc24a3 |
T |
A |
2: 145,360,836 (GRCm39) |
I193N |
probably damaging |
Het |
| Stat5a |
G |
T |
11: 100,774,715 (GRCm39) |
V759F |
probably damaging |
Het |
| Tgfbi |
T |
A |
13: 56,779,166 (GRCm39) |
L463Q |
probably damaging |
Het |
| Tigar |
G |
T |
6: 127,066,253 (GRCm39) |
A95E |
probably damaging |
Het |
| Tph1 |
A |
G |
7: 46,306,421 (GRCm39) |
I180T |
possibly damaging |
Het |
| Usp22 |
T |
A |
11: 61,045,325 (GRCm39) |
Y517F |
probably damaging |
Het |
| Vmn2r105 |
A |
C |
17: 20,448,157 (GRCm39) |
I222M |
possibly damaging |
Het |
| Wapl |
A |
G |
14: 34,444,293 (GRCm39) |
I582V |
probably benign |
Het |
| Zfp217 |
A |
G |
2: 169,957,069 (GRCm39) |
V643A |
probably benign |
Het |
|
| Other mutations in Gm4922 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01810:Gm4922
|
APN |
10 |
18,659,795 (GRCm39) |
missense |
probably benign |
0.20 |
|
IGL01818:Gm4922
|
APN |
10 |
18,660,701 (GRCm39) |
missense |
unknown |
|
|
IGL01931:Gm4922
|
APN |
10 |
18,660,042 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02573:Gm4922
|
APN |
10 |
18,659,423 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL03305:Gm4922
|
APN |
10 |
18,659,232 (GRCm39) |
nonsense |
probably null |
|
|
R0149:Gm4922
|
UTSW |
10 |
18,659,289 (GRCm39) |
missense |
probably benign |
0.10 |
|
R0361:Gm4922
|
UTSW |
10 |
18,659,289 (GRCm39) |
missense |
probably benign |
0.10 |
|
R0564:Gm4922
|
UTSW |
10 |
18,659,813 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R1079:Gm4922
|
UTSW |
10 |
18,660,086 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1163:Gm4922
|
UTSW |
10 |
18,659,469 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R1164:Gm4922
|
UTSW |
10 |
18,659,469 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R1398:Gm4922
|
UTSW |
10 |
18,659,496 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R1458:Gm4922
|
UTSW |
10 |
18,659,640 (GRCm39) |
nonsense |
probably null |
|
|
R1867:Gm4922
|
UTSW |
10 |
18,660,211 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R1994:Gm4922
|
UTSW |
10 |
18,659,388 (GRCm39) |
missense |
probably benign |
0.10 |
|
R2146:Gm4922
|
UTSW |
10 |
18,659,264 (GRCm39) |
missense |
probably benign |
|
|
R2437:Gm4922
|
UTSW |
10 |
18,659,829 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3551:Gm4922
|
UTSW |
10 |
18,660,244 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3939:Gm4922
|
UTSW |
10 |
18,660,362 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4580:Gm4922
|
UTSW |
10 |
18,659,432 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4602:Gm4922
|
UTSW |
10 |
18,660,007 (GRCm39) |
nonsense |
probably null |
|
|
R4704:Gm4922
|
UTSW |
10 |
18,660,567 (GRCm39) |
missense |
probably benign |
0.20 |
|
R4790:Gm4922
|
UTSW |
10 |
18,659,916 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R5478:Gm4922
|
UTSW |
10 |
18,659,885 (GRCm39) |
missense |
probably benign |
|
|
R5510:Gm4922
|
UTSW |
10 |
18,659,745 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5694:Gm4922
|
UTSW |
10 |
18,660,035 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R6080:Gm4922
|
UTSW |
10 |
18,660,500 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6869:Gm4922
|
UTSW |
10 |
18,660,263 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6923:Gm4922
|
UTSW |
10 |
18,659,616 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7667:Gm4922
|
UTSW |
10 |
18,660,096 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8198:Gm4922
|
UTSW |
10 |
18,659,340 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8270:Gm4922
|
UTSW |
10 |
18,659,760 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8310:Gm4922
|
UTSW |
10 |
18,659,536 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9454:Gm4922
|
UTSW |
10 |
18,660,329 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2014-05-07 |
Incidental Mutation