Incidental Mutation 'IGL00980:Gm4884'
| ID |
27943 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gm4884
|
| Ensembl Gene |
ENSMUSG00000048312 |
| Gene Name |
predicted gene 4884 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.054)
|
| Stock # |
IGL00980
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
40682143-40694726 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 40693150 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Arginine
at position 373
(M373R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133059
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000164422]
|
| AlphaFold |
E9PVP9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000164422
AA Change: M373R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000133059
Gene: ENSMUSG00000048312
AA Change: M373R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4629
|
243 |
387 |
8e-62 |
PFAM |
|
low complexity region
|
509 |
533 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
554 |
584 |
1.89e-11 |
PROSPERO |
|
internal_repeat_1
|
583 |
613 |
1.89e-11 |
PROSPERO |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191289
|
| 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 |
|---|
| Adam2 |
A |
T |
14: 66,293,977 (GRCm39) |
Y283* |
probably null |
Het |
| Bend3 |
C |
A |
10: 43,387,562 (GRCm39) |
Q652K |
probably damaging |
Het |
| Bltp1 |
C |
T |
3: 37,054,190 (GRCm39) |
T3103I |
probably damaging |
Het |
| Ccdc136 |
G |
A |
6: 29,420,257 (GRCm39) |
S992N |
probably damaging |
Het |
| Cct6a |
T |
C |
5: 129,868,856 (GRCm39) |
|
probably benign |
Het |
| Cd74 |
A |
T |
18: 60,944,398 (GRCm39) |
I203F |
probably benign |
Het |
| Cd8b1 |
C |
A |
6: 71,309,463 (GRCm39) |
C182* |
probably null |
Het |
| Cmtr1 |
T |
A |
17: 29,910,258 (GRCm39) |
D454E |
probably benign |
Het |
| Cyp2b13 |
T |
A |
7: 25,781,152 (GRCm39) |
F188Y |
probably benign |
Het |
| Dppa2 |
T |
C |
16: 48,132,049 (GRCm39) |
S49P |
possibly damaging |
Het |
| Fhl5 |
G |
T |
4: 25,207,181 (GRCm39) |
L196I |
possibly damaging |
Het |
| Gimap4 |
T |
A |
6: 48,667,872 (GRCm39) |
V81D |
probably damaging |
Het |
| Gnrhr |
C |
T |
5: 86,345,162 (GRCm39) |
|
probably null |
Het |
| H2-Oa |
T |
G |
17: 34,313,537 (GRCm39) |
L196R |
probably damaging |
Het |
| Icosl |
T |
C |
10: 77,907,805 (GRCm39) |
S122P |
probably damaging |
Het |
| Itpr3 |
A |
G |
17: 27,329,930 (GRCm39) |
T1575A |
probably benign |
Het |
| Krt80 |
T |
C |
15: 101,247,879 (GRCm39) |
K373E |
possibly damaging |
Het |
| Lamp1 |
G |
A |
8: 13,221,195 (GRCm39) |
|
probably benign |
Het |
| Npvf |
T |
C |
6: 50,627,865 (GRCm39) |
K185E |
probably damaging |
Het |
| Nuf2 |
A |
G |
1: 169,338,003 (GRCm39) |
M258T |
probably damaging |
Het |
| Or6b2 |
T |
C |
1: 92,407,402 (GRCm39) |
|
probably null |
Het |
| Or8b36 |
G |
A |
9: 37,937,107 (GRCm39) |
V2I |
probably benign |
Het |
| Smurf2 |
A |
C |
11: 106,726,921 (GRCm39) |
I469S |
probably damaging |
Het |
| Soat1 |
T |
A |
1: 156,268,911 (GRCm39) |
H180L |
probably benign |
Het |
| Spink5 |
G |
T |
18: 44,140,777 (GRCm39) |
D659Y |
probably damaging |
Het |
| Sprtn |
T |
C |
8: 125,627,037 (GRCm39) |
M139T |
probably damaging |
Het |
| Tas2r140 |
T |
C |
6: 40,468,352 (GRCm39) |
S61P |
possibly damaging |
Het |
| Tec |
G |
A |
5: 72,944,141 (GRCm39) |
L89F |
probably damaging |
Het |
| Trav21-dv12 |
A |
T |
14: 54,114,107 (GRCm39) |
M76L |
probably benign |
Het |
| Ttc7 |
A |
C |
17: 87,628,874 (GRCm39) |
T271P |
possibly damaging |
Het |
| Tyk2 |
G |
A |
9: 21,031,884 (GRCm39) |
T397I |
probably benign |
Het |
| Ugt1a6b |
T |
A |
1: 88,035,327 (GRCm39) |
Y222N |
possibly damaging |
Het |
| Vmn2r2 |
A |
T |
3: 64,024,601 (GRCm39) |
M660K |
probably benign |
Het |
| Vmn2r52 |
T |
A |
7: 9,905,017 (GRCm39) |
Y274F |
probably damaging |
Het |
| Wscd1 |
A |
C |
11: 71,679,768 (GRCm39) |
N547T |
possibly damaging |
Het |
| Zfp335 |
C |
A |
2: 164,744,594 (GRCm39) |
E394* |
probably null |
Het |
|
| Other mutations in Gm4884 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00429:Gm4884
|
APN |
7 |
40,693,809 (GRCm39) |
missense |
probably benign |
0.22 |
|
IGL02230:Gm4884
|
APN |
7 |
40,692,829 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03271:Gm4884
|
APN |
7 |
40,692,699 (GRCm39) |
missense |
probably benign |
0.33 |
|
IGL03274:Gm4884
|
APN |
7 |
40,693,969 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0013:Gm4884
|
UTSW |
7 |
40,693,716 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0139:Gm4884
|
UTSW |
7 |
40,692,387 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0179:Gm4884
|
UTSW |
7 |
40,693,252 (GRCm39) |
missense |
probably benign |
0.26 |
|
R0960:Gm4884
|
UTSW |
7 |
40,692,232 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R1167:Gm4884
|
UTSW |
7 |
40,693,336 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1311:Gm4884
|
UTSW |
7 |
40,692,539 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R1466:Gm4884
|
UTSW |
7 |
40,692,552 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1466:Gm4884
|
UTSW |
7 |
40,692,552 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1581:Gm4884
|
UTSW |
7 |
40,693,255 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1622:Gm4884
|
UTSW |
7 |
40,692,265 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1891:Gm4884
|
UTSW |
7 |
40,692,539 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R1952:Gm4884
|
UTSW |
7 |
40,693,671 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2198:Gm4884
|
UTSW |
7 |
40,690,229 (GRCm39) |
missense |
probably benign |
|
|
R2209:Gm4884
|
UTSW |
7 |
40,692,745 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R2210:Gm4884
|
UTSW |
7 |
40,692,970 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R2219:Gm4884
|
UTSW |
7 |
40,692,910 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R3688:Gm4884
|
UTSW |
7 |
40,692,910 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R4437:Gm4884
|
UTSW |
7 |
40,692,514 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4472:Gm4884
|
UTSW |
7 |
40,692,687 (GRCm39) |
missense |
probably benign |
0.35 |
|
R5137:Gm4884
|
UTSW |
7 |
40,692,318 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5700:Gm4884
|
UTSW |
7 |
40,692,643 (GRCm39) |
missense |
probably benign |
0.22 |
|
R5875:Gm4884
|
UTSW |
7 |
40,692,360 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R6479:Gm4884
|
UTSW |
7 |
40,690,211 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6659:Gm4884
|
UTSW |
7 |
40,694,046 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7180:Gm4884
|
UTSW |
7 |
40,693,633 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7844:Gm4884
|
UTSW |
7 |
40,690,122 (GRCm39) |
missense |
probably benign |
0.11 |
|
R8153:Gm4884
|
UTSW |
7 |
40,692,582 (GRCm39) |
missense |
probably benign |
0.17 |
|
R8436:Gm4884
|
UTSW |
7 |
40,692,810 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8880:Gm4884
|
UTSW |
7 |
40,693,911 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8885:Gm4884
|
UTSW |
7 |
40,694,108 (GRCm39) |
nonsense |
probably null |
|
|
R9406:Gm4884
|
UTSW |
7 |
40,692,565 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9621:Gm4884
|
UTSW |
7 |
40,693,111 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R9728:Gm4884
|
UTSW |
7 |
40,692,689 (GRCm39) |
missense |
probably benign |
0.00 |
|
RF013:Gm4884
|
UTSW |
7 |
40,690,233 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Gm4884
|
UTSW |
7 |
40,692,300 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
Z1177:Gm4884
|
UTSW |
7 |
40,682,161 (GRCm39) |
start gained |
probably benign |
|
|
| Posted On |
2013-04-17 |
Incidental Mutation