Incidental Mutation 'R4164:Gkn3'
ID |
321655 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gkn3
|
Ensembl Gene |
ENSMUSG00000030048 |
Gene Name |
gastrokine 3 |
Synonyms |
1190003M12Rik |
MMRRC Submission |
041638-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.054)
|
Stock # |
R4164 (G1)
|
Quality Score |
152 |
Status
|
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: 95.7%
|
Validation Efficiency |
89% (40/45) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acap1 |
C |
T |
11: 69,780,863 (GRCm39) |
A164T |
probably benign |
Het |
Ash1l |
A |
G |
3: 88,889,273 (GRCm39) |
D384G |
probably damaging |
Het |
Cntn5 |
A |
G |
9: 9,781,681 (GRCm39) |
V666A |
probably damaging |
Het |
Defb41 |
C |
T |
1: 18,330,821 (GRCm39) |
C42Y |
probably damaging |
Het |
Dennd4c |
C |
A |
4: 86,725,764 (GRCm39) |
N739K |
probably benign |
Het |
Dnah6 |
C |
T |
6: 73,066,575 (GRCm39) |
W2598* |
probably null |
Het |
Ell |
G |
T |
8: 71,034,223 (GRCm39) |
R30L |
probably damaging |
Het |
Entrep1 |
G |
A |
19: 23,952,993 (GRCm39) |
A439V |
probably damaging |
Het |
Entrep1 |
C |
T |
19: 23,953,002 (GRCm39) |
S436N |
probably damaging |
Het |
Fer1l6 |
A |
C |
15: 58,431,087 (GRCm39) |
R247S |
possibly damaging |
Het |
Flnb |
A |
T |
14: 7,915,374 (GRCm38) |
I1502F |
possibly damaging |
Het |
Gm2223 |
C |
T |
X: 32,943,247 (GRCm39) |
|
noncoding transcript |
Het |
Ifi203 |
A |
T |
1: 173,756,029 (GRCm39) |
|
probably benign |
Het |
Ighm |
T |
A |
12: 113,385,915 (GRCm39) |
E108V |
unknown |
Het |
Il23r |
T |
A |
6: 67,400,647 (GRCm39) |
Q561L |
probably benign |
Het |
Kank1 |
A |
G |
19: 25,388,436 (GRCm39) |
D703G |
probably benign |
Het |
Kcnt2 |
A |
T |
1: 140,537,368 (GRCm39) |
Y1109F |
probably damaging |
Het |
Lamb2 |
T |
A |
9: 108,367,497 (GRCm39) |
Y1760N |
probably damaging |
Het |
Lrpprc |
T |
C |
17: 85,038,617 (GRCm39) |
E950G |
possibly damaging |
Het |
Lrrc66 |
T |
A |
5: 73,787,119 (GRCm39) |
|
probably null |
Het |
Mtbp |
T |
C |
15: 55,472,917 (GRCm39) |
V627A |
probably benign |
Het |
Myo10 |
T |
A |
15: 25,726,501 (GRCm39) |
|
probably null |
Het |
Nfix |
CAAAAA |
CAAAA |
8: 85,442,876 (GRCm39) |
|
probably null |
Het |
Nipbl |
T |
C |
15: 8,368,418 (GRCm39) |
N1142S |
probably benign |
Het |
Nrxn2 |
G |
A |
19: 6,582,173 (GRCm39) |
V660I |
probably damaging |
Het |
Oas1c |
T |
C |
5: 120,946,204 (GRCm39) |
E98G |
probably damaging |
Het |
Or8a1b |
T |
G |
9: 37,622,994 (GRCm39) |
I194L |
probably benign |
Het |
Otx1 |
A |
G |
11: 21,946,638 (GRCm39) |
|
probably benign |
Het |
Prkcd |
A |
G |
14: 30,323,154 (GRCm39) |
F461L |
probably damaging |
Het |
Prune2 |
T |
C |
19: 16,981,098 (GRCm39) |
F85S |
possibly damaging |
Het |
Rnf214 |
G |
A |
9: 45,783,210 (GRCm39) |
R184W |
probably damaging |
Het |
Scn5a |
T |
C |
9: 119,324,844 (GRCm39) |
N1328S |
probably damaging |
Het |
Secisbp2l |
T |
C |
2: 125,593,803 (GRCm39) |
|
probably benign |
Het |
Smarcal1 |
A |
G |
1: 72,665,848 (GRCm39) |
|
probably benign |
Het |
Snx21 |
T |
C |
2: 164,628,770 (GRCm39) |
Y138H |
probably damaging |
Het |
Sox5 |
T |
A |
6: 144,062,206 (GRCm39) |
R149W |
probably damaging |
Het |
Spout1 |
C |
T |
2: 30,067,589 (GRCm39) |
|
probably benign |
Het |
Tlr1 |
A |
G |
5: 65,084,545 (GRCm39) |
C11R |
possibly damaging |
Het |
Vmn2r23 |
A |
T |
6: 123,706,697 (GRCm39) |
H509L |
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 |
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 |
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'- CCATGGGAAGCCAACATGTG -3'
(R):5'- CTTCAAGACACAAGGGTCCC -3'
Sequencing Primer
(F):5'- TGTGGAGCACAGAGGACTGC -3'
(R):5'- CACACTGGGCTAAGGGGTTAC -3'
|
Posted On |
2015-06-12 |