Incidental Mutation 'R6890:Gm49368'
| ID |
537155 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm49368
|
| Ensembl Gene |
ENSMUSG00000108596 |
| Gene Name |
predicted gene, 49368 |
| Synonyms |
|
| MMRRC Submission |
044984-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.088)
|
| Stock # |
R6890 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
127661855-127727332 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 127680901 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 277
(R277G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101847
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064821]
[ENSMUST00000098015]
[ENSMUST00000106240]
[ENSMUST00000106242]
[ENSMUST00000120355]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000064821
AA Change: R277G
PolyPhen 2
Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000068468
Gene: ENSMUSG00000030786
AA Change: R277G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
|
Int_alpha
|
30 |
80 |
8.11e0 |
SMART |
|
VWA
|
148 |
333 |
2.63e-49 |
SMART |
|
Int_alpha
|
400 |
449 |
1.07e1 |
SMART |
|
Int_alpha
|
453 |
510 |
1.48e-7 |
SMART |
|
Int_alpha
|
516 |
572 |
4.9e-13 |
SMART |
|
Int_alpha
|
579 |
633 |
3.67e-3 |
SMART |
|
low complexity region
|
849 |
855 |
N/A |
INTRINSIC |
|
Pfam:Integrin_alpha
|
1130 |
1144 |
2.1e-7 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000098015
AA Change: R277G
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000095625
Gene: ENSMUSG00000108596
AA Change: R277G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
|
Int_alpha
|
30 |
80 |
8.11e0 |
SMART |
|
VWA
|
148 |
333 |
2.63e-49 |
SMART |
|
Int_alpha
|
400 |
449 |
1.07e1 |
SMART |
|
Int_alpha
|
453 |
510 |
1.48e-7 |
SMART |
|
Int_alpha
|
516 |
572 |
4.9e-13 |
SMART |
|
Int_alpha
|
579 |
633 |
3.67e-3 |
SMART |
|
low complexity region
|
849 |
855 |
N/A |
INTRINSIC |
|
coiled coil region
|
1143 |
1170 |
N/A |
INTRINSIC |
|
low complexity region
|
1178 |
1200 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106240
AA Change: R277G
PolyPhen 2
Score 0.242 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000101847
Gene: ENSMUSG00000030786
AA Change: R277G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
|
Int_alpha
|
30 |
80 |
8.11e0 |
SMART |
|
VWA
|
148 |
333 |
2.63e-49 |
SMART |
|
Int_alpha
|
400 |
449 |
1.07e1 |
SMART |
|
Int_alpha
|
462 |
516 |
3.67e-3 |
SMART |
|
low complexity region
|
732 |
738 |
N/A |
INTRINSIC |
|
Pfam:Integrin_alpha
|
1013 |
1027 |
3.9e-9 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106242
AA Change: R277G
PolyPhen 2
Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000101849
Gene: ENSMUSG00000030786
AA Change: R277G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
|
Int_alpha
|
30 |
80 |
8.11e0 |
SMART |
|
VWA
|
148 |
333 |
2.63e-49 |
SMART |
|
Int_alpha
|
400 |
449 |
1.07e1 |
SMART |
|
Int_alpha
|
453 |
511 |
5.91e-7 |
SMART |
|
Int_alpha
|
517 |
573 |
4.9e-13 |
SMART |
|
Int_alpha
|
580 |
634 |
3.67e-3 |
SMART |
|
low complexity region
|
850 |
856 |
N/A |
INTRINSIC |
|
Pfam:Integrin_alpha
|
1131 |
1145 |
8.4e-8 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000120355
AA Change: R277G
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000113957
Gene: ENSMUSG00000030786
AA Change: R277G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
|
Int_alpha
|
30 |
80 |
8.11e0 |
SMART |
|
VWA
|
148 |
333 |
2.63e-49 |
SMART |
|
Int_alpha
|
400 |
449 |
1.07e1 |
SMART |
|
Int_alpha
|
453 |
511 |
5.91e-7 |
SMART |
|
Int_alpha
|
517 |
573 |
4.9e-13 |
SMART |
|
Int_alpha
|
580 |
634 |
3.67e-3 |
SMART |
|
low complexity region
|
850 |
856 |
N/A |
INTRINSIC |
|
low complexity region
|
1141 |
1150 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
| Validation Efficiency |
100% (39/39) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alg3 |
T |
C |
16: 20,424,736 (GRCm39) |
T270A |
possibly damaging |
Het |
| Ambp |
G |
C |
4: 63,068,596 (GRCm39) |
H140Q |
probably benign |
Het |
| Arhgef10 |
T |
C |
8: 14,978,786 (GRCm39) |
C18R |
probably benign |
Het |
| Arhgef10l |
A |
G |
4: 140,271,730 (GRCm39) |
F548S |
probably damaging |
Het |
| Armh3 |
A |
G |
19: 45,948,796 (GRCm39) |
Y228H |
probably damaging |
Het |
| Cdhr1 |
T |
C |
14: 36,807,602 (GRCm39) |
D346G |
probably damaging |
Het |
| Col18a1 |
T |
A |
10: 76,949,318 (GRCm39) |
|
probably benign |
Het |
| Col1a2 |
T |
A |
6: 4,539,587 (GRCm39) |
L1285Q |
unknown |
Het |
| Cspg5 |
T |
C |
9: 110,075,852 (GRCm39) |
L196P |
probably damaging |
Het |
| Dusp10 |
T |
G |
1: 183,801,393 (GRCm39) |
Y387D |
probably damaging |
Het |
| Epb41 |
A |
T |
4: 131,663,140 (GRCm39) |
D681E |
probably damaging |
Het |
| Eps8 |
A |
G |
6: 137,489,255 (GRCm39) |
V381A |
probably damaging |
Het |
| Fbxw16 |
A |
T |
9: 109,265,810 (GRCm39) |
S336R |
probably benign |
Het |
| Gsg1 |
C |
T |
6: 135,214,418 (GRCm39) |
V320I |
probably benign |
Het |
| Iglc3 |
T |
A |
16: 18,884,258 (GRCm39) |
|
probably benign |
Het |
| Klc4 |
A |
T |
17: 46,942,769 (GRCm39) |
N598K |
probably benign |
Het |
| Malsu1 |
A |
G |
6: 49,052,185 (GRCm39) |
Y135C |
probably damaging |
Het |
| Mapkbp1 |
T |
C |
2: 119,846,283 (GRCm39) |
I477T |
probably damaging |
Het |
| Mtss1 |
G |
T |
15: 58,823,508 (GRCm39) |
S286R |
probably damaging |
Het |
| Naip2 |
A |
C |
13: 100,298,549 (GRCm39) |
S496A |
probably benign |
Het |
| Niban3 |
T |
A |
8: 72,058,315 (GRCm39) |
V540D |
probably damaging |
Het |
| Npepps |
A |
T |
11: 97,158,470 (GRCm39) |
C98* |
probably null |
Het |
| Nphp3 |
A |
C |
9: 103,919,153 (GRCm39) |
Y1267S |
probably damaging |
Het |
| Npr3 |
A |
G |
15: 11,883,478 (GRCm39) |
V317A |
possibly damaging |
Het |
| Nsun6 |
A |
G |
2: 15,053,788 (GRCm39) |
I7T |
probably damaging |
Het |
| Or13p4 |
A |
G |
4: 118,546,728 (GRCm39) |
V307A |
possibly damaging |
Het |
| Or51ai2 |
A |
T |
7: 103,587,066 (GRCm39) |
T160S |
possibly damaging |
Het |
| Or5b121 |
C |
T |
19: 13,507,445 (GRCm39) |
T180I |
probably damaging |
Het |
| Pcnx1 |
A |
G |
12: 82,018,150 (GRCm39) |
H1330R |
probably benign |
Het |
| Rad17 |
T |
C |
13: 100,773,592 (GRCm39) |
I201V |
probably benign |
Het |
| Slc26a4 |
G |
A |
12: 31,599,950 (GRCm39) |
T126M |
possibly damaging |
Het |
| Slitrk6 |
A |
T |
14: 110,988,528 (GRCm39) |
L393* |
probably null |
Het |
| Snx2 |
A |
G |
18: 53,345,951 (GRCm39) |
H378R |
probably damaging |
Het |
| Tex21 |
A |
G |
12: 76,286,229 (GRCm39) |
|
probably null |
Het |
| Trio |
A |
T |
15: 27,919,374 (GRCm39) |
|
probably benign |
Het |
| Vpreb1b |
T |
C |
16: 17,798,820 (GRCm39) |
I102T |
probably damaging |
Het |
| Zfp617 |
T |
G |
8: 72,686,010 (GRCm39) |
H113Q |
probably benign |
Het |
| Zgpat |
T |
A |
2: 181,020,304 (GRCm39) |
I237N |
probably damaging |
Het |
|
| Other mutations in Gm49368 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R7085:Gm49368
|
UTSW |
7 |
127,726,029 (GRCm39) |
missense |
unknown |
|
|
R7475:Gm49368
|
UTSW |
7 |
127,707,154 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R7578:Gm49368
|
UTSW |
7 |
127,711,430 (GRCm39) |
nonsense |
probably null |
|
|
R7685:Gm49368
|
UTSW |
7 |
127,712,414 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7757:Gm49368
|
UTSW |
7 |
127,711,398 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7994:Gm49368
|
UTSW |
7 |
127,684,818 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R8081:Gm49368
|
UTSW |
7 |
127,726,280 (GRCm39) |
missense |
unknown |
|
|
R8145:Gm49368
|
UTSW |
7 |
127,712,487 (GRCm39) |
missense |
probably null |
0.84 |
|
R8368:Gm49368
|
UTSW |
7 |
127,713,921 (GRCm39) |
missense |
probably benign |
|
|
R8485:Gm49368
|
UTSW |
7 |
127,711,611 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8542:Gm49368
|
UTSW |
7 |
127,679,433 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8543:Gm49368
|
UTSW |
7 |
127,679,433 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8545:Gm49368
|
UTSW |
7 |
127,679,433 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8870:Gm49368
|
UTSW |
7 |
127,700,685 (GRCm39) |
missense |
probably benign |
|
|
R9347:Gm49368
|
UTSW |
7 |
127,712,178 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
Z1177:Gm49368
|
UTSW |
7 |
127,712,239 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGCGATCCTGACTCTGTAG -3'
(R):5'- CATTATTGTGGCATAGATATGTGGC -3'
Sequencing Primer
(F):5'- GCCGGATGCTAACAATATCTCTG -3'
(R):5'- CATAGATATGTGGCAGCTGGGC -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation