Incidental Mutation 'R2304:Gkn3'
| ID |
244525 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gkn3
|
| Ensembl Gene |
ENSMUSG00000030048 |
| Gene Name |
gastrokine 3 |
| Synonyms |
1190003M12Rik |
| MMRRC Submission |
040303-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.054)
|
| Stock # |
R2304 (G1)
|
| Quality Score |
90 |
|
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: 98.7%
- 10x: 97.4%
- 20x: 95.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam22 |
T |
A |
5: 8,142,366 (GRCm39) |
R806S |
probably damaging |
Het |
| Ccdc187 |
T |
C |
2: 26,171,029 (GRCm39) |
K483R |
possibly damaging |
Het |
| Dcdc5 |
T |
A |
2: 106,166,488 (GRCm39) |
|
noncoding transcript |
Het |
| Dvl1 |
C |
T |
4: 155,940,041 (GRCm39) |
S391F |
probably damaging |
Het |
| Erg28 |
A |
G |
12: 85,862,937 (GRCm39) |
L125P |
probably damaging |
Het |
| Gm5449 |
G |
T |
13: 53,679,899 (GRCm39) |
|
noncoding transcript |
Het |
| Grid2ip |
T |
C |
5: 143,373,595 (GRCm39) |
Y796H |
probably damaging |
Het |
| Mcrip1 |
A |
T |
11: 120,435,519 (GRCm39) |
F39I |
probably damaging |
Het |
| Or5w12 |
T |
A |
2: 87,502,238 (GRCm39) |
I158L |
probably benign |
Het |
| Prss53 |
T |
C |
7: 127,487,479 (GRCm39) |
N291D |
probably benign |
Het |
| Ptpru |
A |
T |
4: 131,499,879 (GRCm39) |
V1255D |
probably damaging |
Het |
| Rbl1 |
T |
C |
2: 156,989,551 (GRCm39) |
T1023A |
probably benign |
Het |
| Rnaseh2b |
T |
C |
14: 62,598,838 (GRCm39) |
S188P |
probably damaging |
Het |
| Sh2d6 |
T |
C |
6: 72,497,542 (GRCm39) |
E20G |
probably damaging |
Het |
| Slc13a5 |
A |
G |
11: 72,149,865 (GRCm39) |
V172A |
probably damaging |
Het |
| Slco5a1 |
C |
T |
1: 12,949,486 (GRCm39) |
G635S |
probably damaging |
Het |
| Sp8 |
G |
T |
12: 118,812,304 (GRCm39) |
S53I |
possibly damaging |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Togaram1 |
G |
T |
12: 65,023,630 (GRCm39) |
|
probably null |
Het |
| Trip11 |
A |
T |
12: 101,865,236 (GRCm39) |
F146I |
possibly damaging |
Het |
| Vmn1r184 |
T |
C |
7: 25,966,550 (GRCm39) |
S99P |
probably damaging |
Het |
| Xpot |
T |
C |
10: 121,447,488 (GRCm39) |
I325V |
probably benign |
Het |
| Zfp786 |
A |
G |
6: 47,797,633 (GRCm39) |
L435P |
probably 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 |
|
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 |
|
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'- TCCATGGGAAGCCAACATG -3'
(R):5'- TCTTCAAGACACAAGGGTCCC -3'
Sequencing Primer
(F):5'- TGTGGAGCACAGAGGACTGC -3'
(R):5'- CACACTGGGCTAAGGGGTTAC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation