Incidental Mutation 'R6079:Gkn3'
ID |
482852 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gkn3
|
Ensembl Gene |
ENSMUSG00000030048 |
Gene Name |
gastrokine 3 |
Synonyms |
1190003M12Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.054)
|
Stock # |
R6079 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
87360301-87365917 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 87360507 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Threonine
at position 163
(A163T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000032127
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032127]
[ENSMUST00000032128]
|
AlphaFold |
Q9D0T7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000032127
AA Change: A163T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000032127 Gene: ENSMUSG00000030048 AA Change: A163T
Domain | Start | End | E-Value | Type |
transmembrane domain
|
13 |
32 |
N/A |
INTRINSIC |
BRICHOS
|
63 |
155 |
1.47e-26 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000032128
|
SMART Domains |
Protein: ENSMUSP00000032128 Gene: ENSMUSG00000030049
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
BRICHOS
|
54 |
151 |
6.63e-34 |
SMART |
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700012B07Rik |
G |
T |
11: 109,684,980 (GRCm39) |
C172* |
probably null |
Het |
Abcc8 |
T |
C |
7: 45,755,268 (GRCm39) |
M1511V |
probably benign |
Het |
Adamts2 |
T |
A |
11: 50,647,533 (GRCm39) |
I302N |
probably damaging |
Het |
Adgra2 |
G |
A |
8: 27,604,457 (GRCm39) |
A511T |
probably damaging |
Het |
Anxa10 |
C |
A |
8: 62,530,960 (GRCm39) |
M83I |
probably benign |
Het |
Atp2b4 |
TTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT |
TTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT |
1: 133,629,440 (GRCm39) |
|
probably benign |
Het |
Cdc20b |
T |
C |
13: 113,220,576 (GRCm39) |
F485S |
probably damaging |
Het |
Edc4 |
C |
T |
8: 106,614,180 (GRCm39) |
R19C |
probably benign |
Het |
Fam90a1b |
T |
C |
X: 93,400,191 (GRCm39) |
N213S |
probably benign |
Het |
Itgae |
A |
G |
11: 73,006,400 (GRCm39) |
E356G |
possibly damaging |
Het |
Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
Lrrc19 |
A |
T |
4: 94,531,580 (GRCm39) |
F11I |
probably benign |
Het |
Msl1 |
G |
T |
11: 98,689,519 (GRCm39) |
G9C |
probably benign |
Het |
Muc4 |
T |
A |
16: 32,575,621 (GRCm39) |
|
probably benign |
Het |
Myo7a |
C |
T |
7: 97,714,997 (GRCm39) |
W1558* |
probably null |
Het |
Or5p81 |
T |
A |
7: 108,267,412 (GRCm39) |
V263E |
probably damaging |
Het |
Pgk1 |
C |
A |
X: 105,238,098 (GRCm39) |
L85I |
possibly damaging |
Het |
Ppp4r1 |
G |
A |
17: 66,121,343 (GRCm39) |
V268I |
possibly damaging |
Het |
Rad23b |
C |
T |
4: 55,370,400 (GRCm39) |
A142V |
probably damaging |
Het |
Satl1 |
T |
C |
X: 111,315,613 (GRCm39) |
T281A |
probably benign |
Het |
Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
Synrg |
A |
G |
11: 83,915,126 (GRCm39) |
E1044G |
probably damaging |
Het |
Syt12 |
T |
C |
19: 4,506,896 (GRCm39) |
D83G |
probably benign |
Het |
Taf4b |
T |
C |
18: 14,955,255 (GRCm39) |
C603R |
possibly damaging |
Het |
Tbx5 |
T |
C |
5: 120,021,211 (GRCm39) |
S406P |
probably benign |
Het |
Tfe3 |
T |
C |
X: 7,637,288 (GRCm39) |
L231P |
probably damaging |
Het |
Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
Vmn2r79 |
T |
A |
7: 86,653,319 (GRCm39) |
V528D |
possibly damaging |
Het |
|
Other mutations in Gkn3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02170:Gkn3
|
APN |
6 |
87,360,493 (GRCm39) |
missense |
possibly damaging |
0.70 |
IGL02746:Gkn3
|
APN |
6 |
87,364,339 (GRCm39) |
splice site |
probably benign |
|
IGL03345:Gkn3
|
APN |
6 |
87,365,798 (GRCm39) |
missense |
probably null |
0.09 |
R1758:Gkn3
|
UTSW |
6 |
87,365,817 (GRCm39) |
start codon destroyed |
probably benign |
|
R2303:Gkn3
|
UTSW |
6 |
87,360,507 (GRCm39) |
missense |
probably damaging |
1.00 |
R2304:Gkn3
|
UTSW |
6 |
87,360,507 (GRCm39) |
missense |
probably damaging |
1.00 |
R2363:Gkn3
|
UTSW |
6 |
87,360,507 (GRCm39) |
missense |
probably damaging |
1.00 |
R2365:Gkn3
|
UTSW |
6 |
87,360,507 (GRCm39) |
missense |
probably damaging |
1.00 |
R2897:Gkn3
|
UTSW |
6 |
87,360,507 (GRCm39) |
missense |
probably damaging |
1.00 |
R2898:Gkn3
|
UTSW |
6 |
87,360,507 (GRCm39) |
missense |
probably damaging |
1.00 |
R2983:Gkn3
|
UTSW |
6 |
87,360,507 (GRCm39) |
missense |
probably damaging |
1.00 |
R3031:Gkn3
|
UTSW |
6 |
87,360,507 (GRCm39) |
missense |
probably damaging |
1.00 |
R3426:Gkn3
|
UTSW |
6 |
87,360,507 (GRCm39) |
missense |
probably damaging |
1.00 |
R3433:Gkn3
|
UTSW |
6 |
87,360,507 (GRCm39) |
missense |
probably damaging |
1.00 |
R4085:Gkn3
|
UTSW |
6 |
87,360,507 (GRCm39) |
missense |
probably damaging |
1.00 |
R4086:Gkn3
|
UTSW |
6 |
87,360,507 (GRCm39) |
missense |
probably damaging |
1.00 |
R4087:Gkn3
|
UTSW |
6 |
87,360,507 (GRCm39) |
missense |
probably damaging |
1.00 |
R4088:Gkn3
|
UTSW |
6 |
87,360,507 (GRCm39) |
missense |
probably damaging |
1.00 |
R4089:Gkn3
|
UTSW |
6 |
87,360,507 (GRCm39) |
missense |
probably damaging |
1.00 |
R4090:Gkn3
|
UTSW |
6 |
87,360,507 (GRCm39) |
missense |
probably damaging |
1.00 |
R4163:Gkn3
|
UTSW |
6 |
87,360,507 (GRCm39) |
missense |
probably damaging |
1.00 |
R4164:Gkn3
|
UTSW |
6 |
87,360,507 (GRCm39) |
missense |
probably damaging |
1.00 |
R4720:Gkn3
|
UTSW |
6 |
87,360,507 (GRCm39) |
missense |
probably damaging |
1.00 |
R4721:Gkn3
|
UTSW |
6 |
87,360,507 (GRCm39) |
missense |
probably damaging |
1.00 |
R4722:Gkn3
|
UTSW |
6 |
87,360,507 (GRCm39) |
missense |
probably damaging |
1.00 |
R4723:Gkn3
|
UTSW |
6 |
87,360,507 (GRCm39) |
missense |
probably damaging |
1.00 |
R4766:Gkn3
|
UTSW |
6 |
87,360,507 (GRCm39) |
missense |
probably damaging |
1.00 |
R4941:Gkn3
|
UTSW |
6 |
87,360,507 (GRCm39) |
missense |
probably damaging |
1.00 |
R5004:Gkn3
|
UTSW |
6 |
87,360,507 (GRCm39) |
missense |
probably damaging |
1.00 |
R5163:Gkn3
|
UTSW |
6 |
87,360,507 (GRCm39) |
missense |
probably damaging |
1.00 |
R6078:Gkn3
|
UTSW |
6 |
87,360,507 (GRCm39) |
missense |
probably damaging |
1.00 |
R6502:Gkn3
|
UTSW |
6 |
87,365,786 (GRCm39) |
missense |
probably benign |
0.01 |
R6924:Gkn3
|
UTSW |
6 |
87,365,784 (GRCm39) |
missense |
probably benign |
0.05 |
R7695:Gkn3
|
UTSW |
6 |
87,361,422 (GRCm39) |
missense |
probably damaging |
1.00 |
R9240:Gkn3
|
UTSW |
6 |
87,365,789 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- ACAAGGTAGAAATGCACTTATTCCC -3'
(R):5'- GCTAAGGGGTTACAAAGCGC -3'
Sequencing Primer
(F):5'- CCAGATCACAAGGTTCCATGGG -3'
(R):5'- GGTTACAAAGCGCAATAAAAGAACC -3'
|
Posted On |
2017-07-14 |