Incidental Mutation 'R3426:Gkn3'
| ID |
267877 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gkn3
|
| Ensembl Gene |
ENSMUSG00000030048 |
| Gene Name |
gastrokine 3 |
| Synonyms |
1190003M12Rik |
| MMRRC Submission |
040644-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.054)
|
| Stock # |
R3426 (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: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam18 |
C |
A |
8: 25,157,620 (GRCm39) |
C110F |
probably damaging |
Het |
| Adrb3 |
T |
C |
8: 27,718,209 (GRCm39) |
D80G |
probably damaging |
Het |
| Akap6 |
A |
T |
12: 52,934,817 (GRCm39) |
N770Y |
probably damaging |
Het |
| Ank3 |
A |
G |
10: 69,542,724 (GRCm39) |
H28R |
probably benign |
Het |
| Atrn |
A |
G |
2: 130,862,876 (GRCm39) |
M1319V |
probably benign |
Het |
| BC034090 |
T |
C |
1: 155,117,244 (GRCm39) |
I291M |
probably benign |
Het |
| Cc2d2a |
T |
C |
5: 43,893,451 (GRCm39) |
S1416P |
probably benign |
Het |
| Chd6 |
G |
T |
2: 160,832,175 (GRCm39) |
T999N |
probably damaging |
Het |
| Col9a2 |
C |
A |
4: 120,907,604 (GRCm39) |
A335E |
possibly damaging |
Het |
| Epb42 |
A |
T |
2: 120,860,520 (GRCm39) |
L160M |
probably damaging |
Het |
| Igtp |
G |
A |
11: 58,097,419 (GRCm39) |
V197I |
probably damaging |
Het |
| Nup214 |
G |
A |
2: 31,923,415 (GRCm39) |
V1315M |
probably damaging |
Het |
| Or4c100 |
T |
A |
2: 88,356,208 (GRCm39) |
C94S |
probably damaging |
Het |
| Plek |
T |
C |
11: 16,940,142 (GRCm39) |
Y166C |
probably damaging |
Het |
| Prdm4 |
T |
C |
10: 85,746,153 (GRCm39) |
N85D |
probably damaging |
Het |
| Prelid1 |
T |
G |
13: 55,470,007 (GRCm39) |
V2G |
probably benign |
Het |
| Serac1 |
T |
C |
17: 6,117,053 (GRCm39) |
I168V |
probably benign |
Het |
| Setx |
GTGGCT |
GT |
2: 29,044,073 (GRCm39) |
1814 |
probably null |
Het |
| Slc22a5 |
A |
G |
11: 53,760,152 (GRCm39) |
V388A |
probably benign |
Het |
| Tmem181a |
T |
A |
17: 6,346,061 (GRCm39) |
L185H |
probably damaging |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Trpv3 |
A |
T |
11: 73,176,767 (GRCm39) |
Y382F |
probably damaging |
Het |
| Ttyh1 |
T |
C |
7: 4,136,218 (GRCm39) |
|
probably null |
Het |
| Ubr2 |
T |
C |
17: 47,279,365 (GRCm39) |
Y681C |
probably damaging |
Het |
| Unc80 |
G |
A |
1: 66,678,464 (GRCm39) |
V2082I |
probably benign |
Het |
| Utp14b |
T |
C |
1: 78,643,056 (GRCm39) |
M318T |
probably damaging |
Het |
| Vars2 |
A |
T |
17: 35,972,866 (GRCm39) |
I442N |
probably damaging |
Het |
| Vmn2r63 |
A |
G |
7: 42,576,406 (GRCm39) |
F469S |
probably benign |
Het |
| Wtap |
C |
T |
17: 13,186,425 (GRCm39) |
R374Q |
possibly damaging |
Het |
| Zfp606 |
T |
C |
7: 12,223,591 (GRCm39) |
M34T |
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 |
|
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 |
|
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 |
2015-02-18 |
Incidental Mutation