Incidental Mutation 'R4437:Gm4884'
ID |
329575 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gm4884
|
Ensembl Gene |
ENSMUSG00000048312 |
Gene Name |
predicted gene 4884 |
Synonyms |
|
MMRRC Submission |
041150-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.066)
|
Stock # |
R4437 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
40682143-40694726 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 40692514 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Arginine
at position 161
(Q161R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000133059
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000164422]
|
AlphaFold |
E9PVP9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000164422
AA Change: Q161R
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000133059 Gene: ENSMUSG00000048312 AA Change: Q161R
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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam6b |
A |
C |
12: 113,454,281 (GRCm39) |
Q366P |
probably damaging |
Het |
Arhgef16 |
A |
G |
4: 154,364,153 (GRCm39) |
|
probably null |
Het |
Bcar1 |
G |
A |
8: 112,442,021 (GRCm39) |
T273M |
probably damaging |
Het |
Bcl2a1d |
A |
T |
9: 88,613,753 (GRCm39) |
M7K |
probably benign |
Het |
Bptf |
A |
G |
11: 106,965,300 (GRCm39) |
V1235A |
possibly damaging |
Het |
Camsap1 |
G |
A |
2: 25,828,658 (GRCm39) |
T1022I |
possibly damaging |
Het |
Cdc37l1 |
T |
C |
19: 28,985,021 (GRCm39) |
F224L |
probably damaging |
Het |
Col4a1 |
G |
T |
8: 11,256,387 (GRCm39) |
C1493* |
probably null |
Het |
Cul9 |
A |
G |
17: 46,813,085 (GRCm39) |
L2378P |
probably damaging |
Het |
D630003M21Rik |
G |
A |
2: 158,055,382 (GRCm39) |
P585L |
probably damaging |
Het |
Fam169a |
A |
G |
13: 97,263,248 (GRCm39) |
D567G |
probably damaging |
Het |
Frem3 |
A |
G |
8: 81,339,236 (GRCm39) |
I510V |
probably benign |
Het |
Garin2 |
T |
A |
12: 78,761,824 (GRCm39) |
F163I |
probably damaging |
Het |
Gm2381 |
A |
T |
7: 42,469,268 (GRCm39) |
H285Q |
probably damaging |
Het |
Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
Igkv1-99 |
T |
G |
6: 68,519,318 (GRCm39) |
S91A |
probably benign |
Het |
Itga6 |
T |
C |
2: 71,655,982 (GRCm39) |
L302P |
probably benign |
Het |
Mdga2 |
T |
C |
12: 66,519,972 (GRCm39) |
|
probably null |
Het |
Myoc |
A |
G |
1: 162,476,681 (GRCm39) |
M462V |
possibly damaging |
Het |
Nkx2-4 |
T |
C |
2: 146,926,179 (GRCm39) |
T228A |
possibly damaging |
Het |
Npr1 |
T |
G |
3: 90,363,593 (GRCm39) |
D810A |
probably damaging |
Het |
Or4a68 |
T |
G |
2: 89,269,698 (GRCm39) |
R308S |
possibly damaging |
Het |
Or4k15b |
T |
C |
14: 50,272,287 (GRCm39) |
D191G |
probably damaging |
Het |
Or51a24 |
T |
C |
7: 103,734,128 (GRCm39) |
E53G |
possibly damaging |
Het |
Pde4dip |
G |
A |
3: 97,673,885 (GRCm39) |
L344F |
possibly damaging |
Het |
Pfas |
A |
G |
11: 68,879,243 (GRCm39) |
L1218P |
probably damaging |
Het |
Rimoc1 |
T |
C |
15: 4,021,318 (GRCm39) |
E79G |
probably damaging |
Het |
Rln1 |
A |
T |
19: 29,311,962 (GRCm39) |
F12Y |
possibly damaging |
Het |
Robo2 |
T |
C |
16: 73,770,132 (GRCm39) |
T531A |
possibly damaging |
Het |
Siah1b |
G |
A |
X: 162,854,688 (GRCm39) |
P131S |
probably damaging |
Het |
Tsc2 |
G |
A |
17: 24,818,687 (GRCm39) |
P1450L |
probably benign |
Het |
Vps33a |
A |
T |
5: 123,669,947 (GRCm39) |
I519N |
probably benign |
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 |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- GGACAAGGCATTAACAGCCC -3'
(R):5'- GACTCTCCAGTTTTCACAGGAC -3'
Sequencing Primer
(F):5'- GGCATTAACAGCCCCCATC -3'
(R):5'- CACAGGACTGATCTTGGTCTATGTC -3'
|
Posted On |
2015-07-21 |