Incidental Mutation 'R6688:Gm2381'
| ID |
527859 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm2381
|
| Ensembl Gene |
ENSMUSG00000092225 |
| Gene Name |
predicted gene 2381 |
| Synonyms |
|
| MMRRC Submission |
044806-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.125)
|
| Stock # |
R6688 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
42466253-42516658 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 42470010 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 38
(A38V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133949
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000174558]
|
| AlphaFold |
G3UY53 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174558
AA Change: A38V
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000133949
Gene: ENSMUSG00000092225
AA Change: A38V
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:KRAB
|
1 |
34 |
1e-15 |
BLAST |
|
ZnF_C2H2
|
99 |
121 |
5.5e-3 |
SMART |
|
ZnF_C2H2
|
127 |
149 |
5.9e-3 |
SMART |
|
ZnF_C2H2
|
155 |
177 |
7.37e-4 |
SMART |
|
ZnF_C2H2
|
183 |
205 |
2.75e-3 |
SMART |
|
ZnF_C2H2
|
211 |
233 |
3.69e-4 |
SMART |
|
ZnF_C2H2
|
239 |
261 |
3.34e-2 |
SMART |
|
ZnF_C2H2
|
267 |
289 |
1.58e-3 |
SMART |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.8%
|
| Validation Efficiency |
100% (33/33) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atxn1 |
A |
T |
13: 45,721,147 (GRCm39) |
H249Q |
probably damaging |
Het |
| Cd22 |
A |
C |
7: 30,572,389 (GRCm39) |
S362A |
possibly damaging |
Het |
| Cep120 |
G |
A |
18: 53,857,608 (GRCm39) |
P286S |
probably benign |
Het |
| Ces1g |
G |
A |
8: 94,033,600 (GRCm39) |
P441S |
possibly damaging |
Het |
| Ces2h |
A |
G |
8: 105,744,472 (GRCm39) |
I316V |
probably benign |
Het |
| Cntnap5c |
T |
A |
17: 58,600,899 (GRCm39) |
D747E |
possibly damaging |
Het |
| Cwf19l2 |
T |
C |
9: 3,450,015 (GRCm39) |
V572A |
probably benign |
Het |
| Cyb5rl |
C |
T |
4: 106,931,102 (GRCm39) |
A128V |
probably damaging |
Het |
| Dnttip1 |
T |
C |
2: 164,607,081 (GRCm39) |
Y241H |
probably damaging |
Het |
| Golga4 |
A |
G |
9: 118,343,278 (GRCm39) |
T11A |
possibly damaging |
Het |
| Ip6k2 |
C |
A |
9: 108,683,210 (GRCm39) |
T440K |
probably benign |
Het |
| Kif5c |
A |
G |
2: 49,578,749 (GRCm39) |
N126D |
probably benign |
Het |
| Mdn1 |
T |
A |
4: 32,774,041 (GRCm39) |
F5551I |
possibly damaging |
Het |
| Myh11 |
A |
G |
16: 14,023,417 (GRCm39) |
L1587P |
probably damaging |
Het |
| Nherf4 |
C |
T |
9: 44,159,527 (GRCm39) |
|
probably null |
Het |
| Nop53 |
A |
G |
7: 15,679,779 (GRCm39) |
V67A |
possibly damaging |
Het |
| Or1o1 |
G |
A |
17: 37,716,796 (GRCm39) |
R119H |
probably benign |
Het |
| Paxip1 |
T |
C |
5: 27,949,135 (GRCm39) |
T1045A |
probably benign |
Het |
| Plg |
A |
T |
17: 12,610,732 (GRCm39) |
H215L |
probably damaging |
Het |
| Psmb5 |
C |
A |
14: 54,854,130 (GRCm39) |
R116L |
probably damaging |
Het |
| Rapgef2 |
T |
A |
3: 78,976,435 (GRCm39) |
Q1307L |
probably benign |
Het |
| Serpini2 |
T |
C |
3: 75,166,870 (GRCm39) |
E129G |
possibly damaging |
Het |
| Stx1b |
C |
T |
7: 127,407,068 (GRCm39) |
R209Q |
probably damaging |
Het |
| Tcf20 |
A |
G |
15: 82,738,736 (GRCm39) |
I905T |
possibly damaging |
Het |
| Tmem252 |
G |
A |
19: 24,651,463 (GRCm39) |
A11T |
probably benign |
Het |
| Tpst2 |
A |
G |
5: 112,455,623 (GRCm39) |
N54S |
probably benign |
Het |
| Usp31 |
T |
C |
7: 121,277,553 (GRCm39) |
S269G |
probably benign |
Het |
| Wasf1 |
T |
C |
10: 40,802,616 (GRCm39) |
|
probably null |
Het |
| Zfp429 |
A |
T |
13: 67,544,249 (GRCm39) |
V58D |
probably damaging |
Het |
| Zfp958 |
A |
G |
8: 4,678,940 (GRCm39) |
T322A |
possibly damaging |
Het |
|
| Other mutations in Gm2381 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02309:Gm2381
|
APN |
7 |
42,472,033 (GRCm39) |
splice site |
probably benign |
|
|
R0266:Gm2381
|
UTSW |
7 |
42,469,372 (GRCm39) |
nonsense |
probably null |
|
|
R0617:Gm2381
|
UTSW |
7 |
42,469,402 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0650:Gm2381
|
UTSW |
7 |
42,469,504 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0849:Gm2381
|
UTSW |
7 |
42,469,372 (GRCm39) |
nonsense |
probably null |
|
|
R1340:Gm2381
|
UTSW |
7 |
42,469,828 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R1549:Gm2381
|
UTSW |
7 |
42,471,825 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1702:Gm2381
|
UTSW |
7 |
42,469,655 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1708:Gm2381
|
UTSW |
7 |
42,469,649 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1909:Gm2381
|
UTSW |
7 |
42,469,352 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2848:Gm2381
|
UTSW |
7 |
42,469,831 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2849:Gm2381
|
UTSW |
7 |
42,469,831 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4437:Gm2381
|
UTSW |
7 |
42,469,268 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5445:Gm2381
|
UTSW |
7 |
42,469,425 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5702:Gm2381
|
UTSW |
7 |
42,471,820 (GRCm39) |
missense |
probably benign |
0.12 |
|
R6370:Gm2381
|
UTSW |
7 |
42,470,010 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6371:Gm2381
|
UTSW |
7 |
42,470,010 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6372:Gm2381
|
UTSW |
7 |
42,470,010 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7150:Gm2381
|
UTSW |
7 |
42,469,888 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7336:Gm2381
|
UTSW |
7 |
42,471,804 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R8692:Gm2381
|
UTSW |
7 |
42,472,071 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9658:Gm2381
|
UTSW |
7 |
42,469,729 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTACAAAGGCTTTACCACATTGAT -3'
(R):5'- GGGATTCGAACTGAGGACCT -3'
Sequencing Primer
(F):5'- CATGTGCTCGAAGATACTTGAGC -3'
(R):5'- GAGAAGTCAATGCTCTTAACAGC -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation