Incidental Mutation 'R2983:Gkn3'
| ID |
257118 |
| 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 # |
R2983 (G1)
|
| Quality Score |
225 |
|
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: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4 |
A |
G |
4: 144,349,784 (GRCm39) |
D347G |
probably damaging |
Het |
| Brwd1 |
T |
C |
16: 95,867,774 (GRCm39) |
K124E |
probably damaging |
Het |
| Ddx41 |
G |
A |
13: 55,682,293 (GRCm39) |
R205W |
possibly damaging |
Het |
| Dlec1 |
T |
C |
9: 118,975,241 (GRCm39) |
V1607A |
probably benign |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Flnb |
T |
A |
14: 7,882,250 (GRCm38) |
V317E |
probably damaging |
Het |
| Kmt2c |
AGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTG |
AGCTGCTGCTGCTGCTG |
5: 25,520,755 (GRCm39) |
|
probably benign |
Het |
| Ncs1 |
C |
T |
2: 31,174,708 (GRCm39) |
T144I |
probably damaging |
Het |
| Nfix |
CAAAAA |
CAAAA |
8: 85,442,876 (GRCm39) |
|
probably null |
Het |
| Or5k16 |
T |
A |
16: 58,736,930 (GRCm39) |
T25S |
probably benign |
Het |
| Pira13 |
A |
T |
7: 3,824,574 (GRCm39) |
S503T |
probably damaging |
Het |
| Prkcd |
G |
A |
14: 30,321,435 (GRCm39) |
S552L |
probably damaging |
Het |
| Rad54l2 |
A |
G |
9: 106,577,789 (GRCm39) |
V1044A |
probably benign |
Het |
| Rasal1 |
A |
G |
5: 120,792,927 (GRCm39) |
H60R |
probably benign |
Het |
| Rccd1 |
G |
A |
7: 79,970,276 (GRCm39) |
Q114* |
probably null |
Het |
| Speg |
T |
C |
1: 75,361,574 (GRCm39) |
V90A |
possibly damaging |
Het |
| St8sia1 |
A |
G |
6: 142,909,355 (GRCm39) |
V47A |
probably damaging |
Het |
| Tex264 |
A |
G |
9: 106,559,296 (GRCm39) |
I10T |
unknown |
Het |
| Ttc23l |
CT |
CTTGGATT |
15: 10,537,648 (GRCm39) |
|
probably benign |
Het |
| Ttc23l |
G |
A |
15: 10,537,652 (GRCm39) |
S206L |
probably benign |
Het |
| Vmn1r81 |
G |
A |
7: 11,994,596 (GRCm39) |
T4I |
probably benign |
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 |
|
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 |
|
R6079: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 |
2015-01-11 |
Incidental Mutation