Incidental Mutation 'R6678:Gm43302'
ID |
527343 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gm43302
|
Ensembl Gene |
ENSMUSG00000079362 |
Gene Name |
predicted gene 43302 |
Synonyms |
|
MMRRC Submission |
044797-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.052)
|
Stock # |
R6678 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
105362773-105441561 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 105438820 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Lysine
at position 23
(Q23K)
|
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 benign
Transcript: ENSMUST00000050011
AA Change: Q23K
PolyPhen 2
Score 0.141 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000062528 Gene: ENSMUSG00000079362 AA Change: Q23K
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 benign
Transcript: ENSMUST00000196520
AA Change: Q23K
PolyPhen 2
Score 0.141 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000142518 Gene: ENSMUSG00000104713 AA Change: Q23K
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
AA Change: Q23K
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000142994 Gene: ENSMUSG00000104713 AA Change: Q23K
Domain | Start | End | E-Value | Type |
Pfam:GBP
|
16 |
62 |
7.4e-19 |
PFAM |
|
Meta Mutation Damage Score |
0.1542 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 96.1%
|
Validation Efficiency |
97% (37/38) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrb3 |
T |
C |
1: 25,499,891 (GRCm39) |
N644S |
possibly damaging |
Het |
Agl |
C |
A |
3: 116,546,969 (GRCm39) |
V1294F |
probably damaging |
Het |
Ash2l |
A |
C |
8: 26,323,805 (GRCm39) |
W125G |
probably damaging |
Het |
Dap |
C |
T |
15: 31,273,396 (GRCm39) |
T51M |
probably benign |
Het |
Dnah12 |
G |
A |
14: 26,456,847 (GRCm39) |
R871H |
probably damaging |
Het |
Filip1l |
T |
C |
16: 57,390,333 (GRCm39) |
I307T |
probably benign |
Het |
Gdap1l1 |
T |
A |
2: 163,280,574 (GRCm39) |
S37T |
probably benign |
Het |
Golga2 |
T |
C |
2: 32,189,072 (GRCm39) |
V227A |
probably damaging |
Het |
Gramd4 |
A |
T |
15: 85,975,704 (GRCm39) |
S74C |
probably damaging |
Het |
Gramd4 |
G |
C |
15: 85,975,705 (GRCm39) |
S74T |
possibly damaging |
Het |
Hsph1 |
A |
C |
5: 149,541,962 (GRCm39) |
S755A |
probably benign |
Het |
Inppl1 |
A |
G |
7: 101,481,477 (GRCm39) |
V235A |
probably damaging |
Het |
Kcnc1 |
A |
G |
7: 46,047,229 (GRCm39) |
H43R |
probably benign |
Het |
Klhl41 |
T |
G |
2: 69,501,188 (GRCm39) |
S216R |
probably benign |
Het |
Kmt2e |
A |
G |
5: 23,704,293 (GRCm39) |
E1162G |
possibly damaging |
Het |
Lrp1 |
G |
A |
10: 127,396,005 (GRCm39) |
H2422Y |
probably damaging |
Het |
Ms4a13 |
T |
C |
19: 11,161,222 (GRCm39) |
I106V |
probably benign |
Het |
Myo1f |
G |
A |
17: 33,794,819 (GRCm39) |
D20N |
probably damaging |
Het |
Ndel1 |
T |
C |
11: 68,724,239 (GRCm39) |
T245A |
possibly damaging |
Het |
Or5al1 |
A |
T |
2: 85,990,529 (GRCm39) |
F62I |
probably damaging |
Het |
P2rx6 |
C |
A |
16: 17,388,820 (GRCm39) |
N360K |
probably benign |
Het |
Pcdhgb5 |
C |
T |
18: 37,864,255 (GRCm39) |
L17F |
probably damaging |
Het |
Plcl1 |
A |
G |
1: 55,734,935 (GRCm39) |
K92R |
probably benign |
Het |
Prelp |
C |
T |
1: 133,842,513 (GRCm39) |
D211N |
probably benign |
Het |
Rgl1 |
T |
C |
1: 152,400,475 (GRCm39) |
Y677C |
probably damaging |
Het |
Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
Rreb1 |
G |
T |
13: 38,083,675 (GRCm39) |
D113Y |
probably damaging |
Het |
Sf1 |
T |
A |
19: 6,424,543 (GRCm39) |
|
probably null |
Het |
Sh3bp1 |
T |
C |
15: 78,792,714 (GRCm39) |
|
probably null |
Het |
Shprh |
T |
A |
10: 11,042,289 (GRCm39) |
D757E |
probably benign |
Het |
Slc6a1 |
A |
G |
6: 114,284,737 (GRCm39) |
K81R |
probably benign |
Het |
Spata31e4 |
A |
G |
13: 50,855,946 (GRCm39) |
K528R |
probably benign |
Het |
Ttc22 |
T |
A |
4: 106,480,242 (GRCm39) |
S165R |
probably benign |
Het |
Vmn1r113 |
G |
A |
7: 20,521,903 (GRCm39) |
G232S |
probably benign |
Het |
Vwa7 |
C |
A |
17: 35,238,776 (GRCm39) |
A288D |
probably damaging |
Het |
Wdpcp |
A |
G |
11: 21,671,105 (GRCm39) |
I449V |
probably benign |
Het |
Wdsub1 |
G |
A |
2: 59,692,975 (GRCm39) |
T313I |
probably benign |
Het |
Zyg11a |
A |
G |
4: 108,046,878 (GRCm39) |
V532A |
probably benign |
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 |
R3687:Gm43302
|
UTSW |
5 |
105,428,132 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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'- TGAAGGGATTCAATTTAGCATGGG -3'
(R):5'- CATTTGAGGCTATGCGCTGC -3'
Sequencing Primer
(F):5'- GGCTTTGCTAAAAAGGAGTTCTACTG -3'
(R):5'- TATGCGCTGCCAACAGG -3'
|
Posted On |
2018-07-23 |