Incidental Mutation 'R3687:Gm43302'
| ID |
269559 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm43302
|
| Ensembl Gene |
ENSMUSG00000079362 |
| Gene Name |
predicted gene 43302 |
| Synonyms |
|
| MMRRC Submission |
040683-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.056)
|
| Stock # |
R3687 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
105362773-105441561 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 105428132 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 143
(V143D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142518
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050011]
[ENSMUST00000196520]
[ENSMUST00000200045]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000050011
AA Change: V143D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000062528
Gene: ENSMUSG00000079362
AA Change: V143D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GBP
|
16 |
279 |
7.6e-118 |
PFAM |
|
Pfam:GBP_C
|
281 |
575 |
2.1e-117 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000196520
AA Change: V143D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000142518
Gene: ENSMUSG00000104713
AA Change: V143D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GBP
|
16 |
279 |
2.8e-124 |
PFAM |
|
Pfam:GBP_C
|
281 |
575 |
2.1e-117 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199944
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200045
|
| SMART Domains |
Protein: ENSMUSP00000142994
Gene: ENSMUSG00000104713
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GBP
|
16 |
62 |
7.4e-19 |
PFAM |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.7%
|
| Validation Efficiency |
97% (38/39) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgra1 |
G |
A |
7: 139,432,506 (GRCm39) |
V115M |
probably damaging |
Het |
| Atp11c |
T |
C |
X: 59,327,004 (GRCm39) |
Y431C |
probably benign |
Het |
| Atp4a |
G |
A |
7: 30,419,650 (GRCm39) |
R671Q |
probably benign |
Het |
| B230307C23Rik |
T |
A |
16: 97,810,199 (GRCm39) |
N62K |
probably benign |
Het |
| Bnip2 |
T |
A |
9: 69,906,432 (GRCm39) |
Y118N |
probably damaging |
Het |
| Bptf |
C |
A |
11: 106,965,024 (GRCm39) |
R1275L |
probably benign |
Het |
| C2cd3 |
C |
T |
7: 100,085,040 (GRCm39) |
P1544L |
probably benign |
Het |
| Cd44 |
G |
A |
2: 102,731,695 (GRCm39) |
|
probably null |
Het |
| Col10a1 |
A |
G |
10: 34,271,494 (GRCm39) |
T489A |
probably benign |
Het |
| Dgkk |
T |
C |
X: 6,804,631 (GRCm39) |
|
probably benign |
Het |
| Efcab6 |
G |
A |
15: 83,755,479 (GRCm39) |
Q1323* |
probably null |
Het |
| Eftud2 |
T |
C |
11: 102,735,027 (GRCm39) |
E624G |
probably damaging |
Het |
| Elmo3 |
G |
A |
8: 106,035,468 (GRCm39) |
|
probably null |
Het |
| Galnt13 |
A |
T |
2: 54,770,074 (GRCm39) |
T289S |
probably benign |
Het |
| Gm16485 |
T |
C |
9: 8,972,382 (GRCm39) |
|
probably benign |
Het |
| Gpr18 |
T |
C |
14: 122,149,873 (GRCm39) |
T51A |
probably damaging |
Het |
| Hr |
T |
A |
14: 70,795,236 (GRCm39) |
N289K |
probably damaging |
Het |
| Ighv1-24 |
T |
A |
12: 114,736,700 (GRCm39) |
I67F |
probably damaging |
Het |
| Ksr2 |
A |
G |
5: 117,693,044 (GRCm39) |
Q164R |
probably damaging |
Het |
| Myo3b |
A |
G |
2: 70,075,658 (GRCm39) |
E554G |
probably benign |
Het |
| Or10u4 |
A |
T |
10: 129,802,581 (GRCm39) |
|
probably null |
Het |
| Or5b99 |
G |
A |
19: 12,976,466 (GRCm39) |
G39R |
probably damaging |
Het |
| Or8b101 |
A |
G |
9: 38,020,177 (GRCm39) |
Y60C |
probably damaging |
Het |
| Pclo |
A |
G |
5: 14,719,009 (GRCm39) |
T1049A |
unknown |
Het |
| Pkhd1l1 |
T |
C |
15: 44,409,983 (GRCm39) |
S2497P |
probably benign |
Het |
| Ppm1f |
T |
C |
16: 16,741,747 (GRCm39) |
V407A |
probably damaging |
Het |
| Ppox |
A |
G |
1: 171,105,066 (GRCm39) |
L374S |
probably damaging |
Het |
| Prkdc |
T |
C |
16: 15,617,831 (GRCm39) |
Y3221H |
probably benign |
Het |
| Ptprk |
A |
T |
10: 28,349,039 (GRCm39) |
I520F |
probably damaging |
Het |
| Pus10 |
T |
C |
11: 23,617,334 (GRCm39) |
F16L |
probably benign |
Het |
| Rab36 |
G |
A |
10: 74,880,328 (GRCm39) |
V63I |
probably damaging |
Het |
| Rab3d |
A |
T |
9: 21,826,204 (GRCm39) |
M101K |
probably damaging |
Het |
| Rangap1 |
A |
T |
15: 81,602,963 (GRCm39) |
M154K |
possibly damaging |
Het |
| Slc25a17 |
A |
G |
15: 81,211,485 (GRCm39) |
F177S |
probably benign |
Het |
| Tas2r114 |
T |
C |
6: 131,666,231 (GRCm39) |
T266A |
probably benign |
Het |
| Top2b |
T |
G |
14: 16,409,189 (GRCm38) |
I777M |
probably damaging |
Het |
| Trem3 |
T |
A |
17: 48,564,955 (GRCm39) |
V152D |
probably damaging |
Het |
| Vmn2r4 |
T |
A |
3: 64,296,896 (GRCm39) |
I630F |
possibly damaging |
Het |
| Vwa5b2 |
C |
A |
16: 20,410,308 (GRCm39) |
|
probably benign |
Het |
| Zfp518b |
A |
T |
5: 38,831,455 (GRCm39) |
H183Q |
probably damaging |
Het |
|
| Other mutations in Gm43302 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0033:Gm43302
|
UTSW |
5 |
105,424,710 (GRCm39) |
missense |
probably benign |
0.12 |
|
R0066:Gm43302
|
UTSW |
5 |
105,438,766 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0764:Gm43302
|
UTSW |
5 |
105,428,355 (GRCm39) |
missense |
probably benign |
|
|
R1400:Gm43302
|
UTSW |
5 |
105,422,622 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1421:Gm43302
|
UTSW |
5 |
105,365,215 (GRCm39) |
missense |
probably benign |
|
|
R1539:Gm43302
|
UTSW |
5 |
105,422,635 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1774:Gm43302
|
UTSW |
5 |
105,423,660 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1842:Gm43302
|
UTSW |
5 |
105,425,602 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2011:Gm43302
|
UTSW |
5 |
105,438,846 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2131:Gm43302
|
UTSW |
5 |
105,422,610 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2174:Gm43302
|
UTSW |
5 |
105,422,216 (GRCm39) |
missense |
probably benign |
0.12 |
|
R5322:Gm43302
|
UTSW |
5 |
105,365,347 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5396:Gm43302
|
UTSW |
5 |
105,427,955 (GRCm39) |
nonsense |
probably null |
|
|
R5668:Gm43302
|
UTSW |
5 |
105,423,678 (GRCm39) |
missense |
probably benign |
|
|
R5723:Gm43302
|
UTSW |
5 |
105,365,352 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6073:Gm43302
|
UTSW |
5 |
105,438,825 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6159:Gm43302
|
UTSW |
5 |
105,436,894 (GRCm39) |
missense |
probably benign |
0.11 |
|
R6225:Gm43302
|
UTSW |
5 |
105,425,605 (GRCm39) |
nonsense |
probably null |
|
|
R6483:Gm43302
|
UTSW |
5 |
105,423,726 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6537:Gm43302
|
UTSW |
5 |
105,438,861 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6678:Gm43302
|
UTSW |
5 |
105,438,820 (GRCm39) |
missense |
probably benign |
0.14 |
|
R6889:Gm43302
|
UTSW |
5 |
105,428,004 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7163:Gm43302
|
UTSW |
5 |
105,441,493 (GRCm39) |
splice site |
probably null |
|
|
R7790:Gm43302
|
UTSW |
5 |
105,425,691 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7893:Gm43302
|
UTSW |
5 |
105,436,891 (GRCm39) |
nonsense |
probably null |
|
|
R8047:Gm43302
|
UTSW |
5 |
105,422,623 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R8350:Gm43302
|
UTSW |
5 |
105,422,573 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8450:Gm43302
|
UTSW |
5 |
105,422,573 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8495:Gm43302
|
UTSW |
5 |
105,424,570 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R8728:Gm43302
|
UTSW |
5 |
105,438,793 (GRCm39) |
missense |
probably benign |
0.30 |
|
R8856:Gm43302
|
UTSW |
5 |
105,438,739 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8956:Gm43302
|
UTSW |
5 |
105,425,602 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R9009:Gm43302
|
UTSW |
5 |
105,427,974 (GRCm39) |
missense |
probably benign |
0.01 |
|
RF014:Gm43302
|
UTSW |
5 |
105,422,623 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
Z1177:Gm43302
|
UTSW |
5 |
105,424,662 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCTTCAAGGCATTCTCCAGG -3'
(R):5'- TGAGCAGCACCTTCATCTAC -3'
Sequencing Primer
(F):5'- AAGGCATTCTCCAGGTAGTCATC -3'
(R):5'- GAGCAGCTGCAGTATCCTTCTG -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation