Incidental Mutation 'IGL02230:Gm4884'
| ID |
285647 |
| 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: 0.066)
|
| Stock # |
IGL02230
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
40682143-40694726 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 40692829 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 266
(Q266L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133059
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000164422]
|
| AlphaFold |
E9PVP9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000164422
AA Change: Q266L
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000133059
Gene: ENSMUSG00000048312
AA Change: Q266L
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actn1 |
T |
A |
12: 80,218,604 (GRCm39) |
T727S |
probably benign |
Het |
| Cyp4a12b |
A |
T |
4: 115,291,193 (GRCm39) |
I374F |
probably damaging |
Het |
| Ecel1 |
T |
C |
1: 87,079,916 (GRCm39) |
N399S |
probably damaging |
Het |
| Fpr-rs3 |
T |
C |
17: 20,844,190 (GRCm39) |
E317G |
probably damaging |
Het |
| Gm10030 |
T |
A |
9: 110,835,458 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr45 |
C |
A |
1: 43,071,816 (GRCm39) |
A153E |
probably damaging |
Het |
| Hc |
A |
G |
2: 34,903,682 (GRCm39) |
F991L |
probably benign |
Het |
| Hif1a |
T |
G |
12: 73,979,224 (GRCm39) |
D249E |
probably damaging |
Het |
| Hsd17b12 |
A |
G |
2: 93,875,743 (GRCm39) |
L194P |
possibly damaging |
Het |
| Hspg2 |
T |
C |
4: 137,245,956 (GRCm39) |
S947P |
probably damaging |
Het |
| Kng1 |
G |
T |
16: 22,879,244 (GRCm39) |
|
probably null |
Het |
| Lpp |
C |
T |
16: 24,580,895 (GRCm39) |
R204W |
probably damaging |
Het |
| Lrrc4 |
T |
A |
6: 28,830,879 (GRCm39) |
K245N |
probably damaging |
Het |
| Mdga2 |
G |
A |
12: 66,702,197 (GRCm39) |
R335* |
probably null |
Het |
| Naa16 |
A |
T |
14: 79,614,801 (GRCm39) |
|
probably benign |
Het |
| Ncbp1 |
C |
A |
4: 46,165,272 (GRCm39) |
N528K |
probably benign |
Het |
| Or10a2 |
A |
G |
7: 106,673,700 (GRCm39) |
I222V |
probably damaging |
Het |
| Or7a41 |
T |
A |
10: 78,870,876 (GRCm39) |
M82K |
probably damaging |
Het |
| Pipox |
A |
G |
11: 77,772,032 (GRCm39) |
L364P |
probably damaging |
Het |
| R3hdm4 |
C |
A |
10: 79,747,925 (GRCm39) |
A206S |
probably damaging |
Het |
| Rasgrf2 |
A |
G |
13: 92,136,145 (GRCm39) |
I589T |
probably damaging |
Het |
| Ror2 |
C |
T |
13: 53,264,764 (GRCm39) |
S764N |
probably damaging |
Het |
| Sdr16c5 |
T |
C |
4: 4,016,354 (GRCm39) |
E24G |
probably damaging |
Het |
| Sec24a |
T |
C |
11: 51,599,861 (GRCm39) |
I815V |
possibly damaging |
Het |
| Serpina16 |
A |
G |
12: 103,641,561 (GRCm39) |
Y55H |
probably damaging |
Het |
| Sirt2 |
C |
T |
7: 28,478,371 (GRCm39) |
R83C |
probably damaging |
Het |
| Sntg1 |
A |
T |
1: 8,752,195 (GRCm39) |
|
probably null |
Het |
| Stmn1 |
A |
G |
4: 134,200,224 (GRCm39) |
E99G |
probably damaging |
Het |
| Tas2r103 |
T |
C |
6: 133,014,019 (GRCm39) |
I16V |
possibly damaging |
Het |
| Vit |
A |
G |
17: 78,927,056 (GRCm39) |
K334E |
probably damaging |
Het |
| Washc4 |
T |
C |
10: 83,417,233 (GRCm39) |
I876T |
probably benign |
Het |
| Wrn |
A |
T |
8: 33,807,591 (GRCm39) |
V289D |
probably damaging |
Het |
| Zfp318 |
C |
T |
17: 46,707,736 (GRCm39) |
R265* |
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 |
|
IGL00980:Gm4884
|
APN |
7 |
40,693,150 (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 |
2015-04-16 |
Incidental Mutation