Incidental Mutation 'R2210:Gm4884'
ID |
239312 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gm4884
|
Ensembl Gene |
ENSMUSG00000048312 |
Gene Name |
predicted gene 4884 |
Synonyms |
|
MMRRC Submission |
040212-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.054)
|
Stock # |
R2210 (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 T
at 40692970 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Valine
at position 313
(E313V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000133059
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000164422]
|
AlphaFold |
E9PVP9 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000164422
AA Change: E313V
PolyPhen 2
Score 0.722 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000133059 Gene: ENSMUSG00000048312 AA Change: E313V
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: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 95.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2210016L21Rik |
C |
G |
5: 115,080,348 (GRCm39) |
R28G |
probably damaging |
Het |
Adgrb1 |
C |
T |
15: 74,419,553 (GRCm39) |
A798V |
probably damaging |
Het |
Ash1l |
G |
T |
3: 88,973,605 (GRCm39) |
D2555Y |
probably damaging |
Het |
Atr |
G |
A |
9: 95,789,353 (GRCm39) |
R1503Q |
probably damaging |
Het |
Cbln3 |
T |
A |
14: 56,121,383 (GRCm39) |
I88F |
possibly damaging |
Het |
Cct7 |
G |
A |
6: 85,436,212 (GRCm39) |
G41D |
probably damaging |
Het |
Cd1d2 |
G |
T |
3: 86,895,041 (GRCm39) |
A138S |
possibly damaging |
Het |
Dct |
T |
C |
14: 118,280,561 (GRCm39) |
I152V |
probably benign |
Het |
Dgkq |
C |
A |
5: 108,808,389 (GRCm39) |
R58L |
probably damaging |
Het |
Emc10 |
G |
A |
7: 44,142,616 (GRCm39) |
R109W |
probably damaging |
Het |
Hectd1 |
A |
T |
12: 51,853,245 (GRCm39) |
I92K |
probably damaging |
Het |
Icam1 |
A |
G |
9: 20,930,329 (GRCm39) |
E61G |
probably damaging |
Het |
Itgb2l |
C |
T |
16: 96,227,421 (GRCm39) |
V541M |
possibly damaging |
Het |
Lmtk2 |
A |
G |
5: 144,084,427 (GRCm39) |
E154G |
probably damaging |
Het |
Majin |
C |
A |
19: 6,272,728 (GRCm39) |
H223N |
possibly damaging |
Het |
Mc4r |
A |
T |
18: 66,992,466 (GRCm39) |
F216I |
probably damaging |
Het |
Muc4 |
AG |
AGG |
16: 32,755,176 (GRCm38) |
|
probably null |
Het |
Obscn |
A |
T |
11: 58,958,913 (GRCm39) |
V3379D |
probably damaging |
Het |
Or8g30 |
A |
T |
9: 39,230,089 (GRCm39) |
S274T |
probably damaging |
Het |
Pde4b |
A |
T |
4: 102,454,672 (GRCm39) |
N346I |
probably damaging |
Het |
Pitpnm1 |
T |
C |
19: 4,155,253 (GRCm39) |
S331P |
probably damaging |
Het |
Plcb2 |
T |
A |
2: 118,547,984 (GRCm39) |
I437F |
probably damaging |
Het |
Pramel14 |
T |
A |
4: 143,720,789 (GRCm39) |
M51L |
probably benign |
Het |
Prr12 |
A |
G |
7: 44,698,775 (GRCm39) |
|
probably benign |
Het |
Pus7l |
T |
G |
15: 94,438,173 (GRCm39) |
D224A |
possibly damaging |
Het |
Sh3pxd2a |
A |
G |
19: 47,255,782 (GRCm39) |
S1007P |
possibly damaging |
Het |
Stac |
G |
A |
9: 111,431,638 (GRCm39) |
P238S |
probably damaging |
Het |
Tmem107 |
A |
G |
11: 68,962,096 (GRCm39) |
E45G |
possibly damaging |
Het |
Tmt1b |
T |
A |
10: 128,794,591 (GRCm39) |
K244N |
probably damaging |
Het |
Triml2 |
T |
C |
8: 43,636,397 (GRCm39) |
Y61H |
probably damaging |
Het |
Uba2 |
T |
C |
7: 33,862,587 (GRCm39) |
D95G |
probably damaging |
Het |
Ube2d3 |
T |
A |
3: 135,168,802 (GRCm39) |
D132E |
probably benign |
Het |
Unc5d |
A |
G |
8: 29,251,825 (GRCm39) |
I216T |
probably damaging |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- CTTTGACCAGGTGAGGGAGAAC -3'
(R):5'- ACTCCAGCATGTGCATTGCTAG -3'
Sequencing Primer
(F):5'- CATAAATCCTTTGAGTTGCTTGAGG -3'
(R):5'- CAGCATGTGCATTGCTAGGTTGG -3'
|
Posted On |
2014-10-15 |