Incidental Mutation 'IGL03383:Rtkn2'
ID |
420764 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Rtkn2
|
Ensembl Gene |
ENSMUSG00000037846 |
Gene Name |
rhotekin 2 |
Synonyms |
Mbf, RTKN2, Plekhk1, B130039D23Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.114)
|
Stock # |
IGL03383
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
67815371-67894259 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 67853667 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 232
(T232A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000116166
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068994]
[ENSMUST00000105437]
[ENSMUST00000117086]
[ENSMUST00000118160]
[ENSMUST00000147556]
|
AlphaFold |
Q14B46 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000068994
AA Change: T235A
PolyPhen 2
Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000070717 Gene: ENSMUSG00000037846 AA Change: T235A
Domain | Start | End | E-Value | Type |
Blast:Hr1
|
12 |
75 |
4e-30 |
BLAST |
Pfam:Anillin
|
93 |
243 |
4.9e-37 |
PFAM |
PH
|
282 |
389 |
1.11e-6 |
SMART |
low complexity region
|
529 |
543 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000105437
AA Change: T233A
PolyPhen 2
Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000101077 Gene: ENSMUSG00000037846 AA Change: T233A
Domain | Start | End | E-Value | Type |
Blast:Hr1
|
12 |
75 |
4e-30 |
BLAST |
Pfam:Anillin
|
90 |
241 |
3.1e-37 |
PFAM |
PH
|
280 |
387 |
1.11e-6 |
SMART |
low complexity region
|
527 |
541 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000117086
AA Change: T232A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000112419 Gene: ENSMUSG00000037846 AA Change: T232A
Domain | Start | End | E-Value | Type |
Blast:Hr1
|
12 |
75 |
4e-30 |
BLAST |
Pfam:Anillin
|
90 |
240 |
4.9e-37 |
PFAM |
PH
|
279 |
386 |
1.11e-6 |
SMART |
low complexity region
|
526 |
540 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000118160
AA Change: T235A
PolyPhen 2
Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000112946 Gene: ENSMUSG00000037846 AA Change: T235A
Domain | Start | End | E-Value | Type |
Blast:Hr1
|
12 |
75 |
4e-30 |
BLAST |
Pfam:Anillin
|
94 |
242 |
1.4e-49 |
PFAM |
PH
|
282 |
389 |
1.11e-6 |
SMART |
low complexity region
|
529 |
543 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000147556
AA Change: T232A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000116166 Gene: ENSMUSG00000037846 AA Change: T232A
Domain | Start | End | E-Value | Type |
Blast:Hr1
|
12 |
75 |
4e-30 |
BLAST |
Pfam:Anillin
|
90 |
240 |
4.9e-37 |
PFAM |
PH
|
279 |
386 |
1.11e-6 |
SMART |
low complexity region
|
526 |
540 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agbl4 |
C |
T |
4: 111,514,620 (GRCm39) |
|
probably benign |
Het |
Cit |
T |
C |
5: 116,011,904 (GRCm39) |
|
probably benign |
Het |
Clmp |
A |
G |
9: 40,685,737 (GRCm39) |
N211S |
probably damaging |
Het |
Cnot2 |
A |
G |
10: 116,330,722 (GRCm39) |
|
probably benign |
Het |
Cntn6 |
A |
G |
6: 104,753,418 (GRCm39) |
|
probably benign |
Het |
Dnajb9 |
C |
T |
12: 44,255,096 (GRCm39) |
|
probably benign |
Het |
Ece2 |
T |
A |
16: 20,451,847 (GRCm39) |
N411K |
possibly damaging |
Het |
Fshr |
A |
G |
17: 89,354,127 (GRCm39) |
I77T |
possibly damaging |
Het |
Fshr |
A |
G |
17: 89,293,121 (GRCm39) |
M519T |
probably damaging |
Het |
Gm10654 |
G |
A |
8: 71,384,775 (GRCm39) |
|
noncoding transcript |
Het |
Gm5093 |
A |
G |
17: 46,750,517 (GRCm39) |
I170T |
probably benign |
Het |
Meis3 |
A |
G |
7: 15,917,744 (GRCm39) |
K299R |
probably damaging |
Het |
Nxf1 |
T |
C |
19: 8,741,061 (GRCm39) |
F15L |
probably damaging |
Het |
Nxpe3 |
T |
C |
16: 55,670,076 (GRCm39) |
D343G |
probably benign |
Het |
Or4a73 |
A |
T |
2: 89,420,656 (GRCm39) |
Y268N |
probably benign |
Het |
Polr3k |
A |
G |
2: 181,507,820 (GRCm39) |
T65A |
probably damaging |
Het |
Preb |
A |
T |
5: 31,115,665 (GRCm39) |
W222R |
probably damaging |
Het |
Psmd11 |
T |
C |
11: 80,360,671 (GRCm39) |
I56T |
probably damaging |
Het |
Scaf11 |
T |
C |
15: 96,318,064 (GRCm39) |
|
probably null |
Het |
Slc4a10 |
A |
T |
2: 62,097,780 (GRCm39) |
K493M |
probably damaging |
Het |
Stard10 |
A |
G |
7: 100,991,777 (GRCm39) |
K112E |
probably damaging |
Het |
Sugp1 |
A |
T |
8: 70,522,217 (GRCm39) |
|
probably benign |
Het |
Tasor |
A |
G |
14: 27,163,918 (GRCm39) |
I235V |
possibly damaging |
Het |
Tmem156 |
T |
C |
5: 65,233,040 (GRCm39) |
E139G |
probably damaging |
Het |
Tubd1 |
C |
T |
11: 86,439,834 (GRCm39) |
|
probably benign |
Het |
Uap1 |
G |
A |
1: 169,986,460 (GRCm39) |
T174M |
probably damaging |
Het |
Vmn2r13 |
T |
C |
5: 109,304,398 (GRCm39) |
T678A |
probably damaging |
Het |
Vmn2r84 |
A |
T |
10: 130,222,556 (GRCm39) |
C555S |
probably damaging |
Het |
Vps13d |
T |
C |
4: 144,894,889 (GRCm39) |
|
probably null |
Het |
Vps8 |
T |
C |
16: 21,254,573 (GRCm39) |
|
probably null |
Het |
Wee1 |
A |
G |
7: 109,738,899 (GRCm39) |
N590S |
probably damaging |
Het |
Zfp112 |
C |
A |
7: 23,825,103 (GRCm39) |
S357Y |
probably damaging |
Het |
Zfp423 |
T |
A |
8: 88,586,080 (GRCm39) |
K48* |
probably null |
Het |
Zscan4d |
A |
G |
7: 10,896,692 (GRCm39) |
V226A |
probably benign |
Het |
|
Other mutations in Rtkn2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01069:Rtkn2
|
APN |
10 |
67,877,494 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01338:Rtkn2
|
APN |
10 |
67,861,349 (GRCm39) |
missense |
possibly damaging |
0.83 |
IGL01865:Rtkn2
|
APN |
10 |
67,871,705 (GRCm39) |
missense |
probably benign |
0.44 |
IGL03074:Rtkn2
|
APN |
10 |
67,877,551 (GRCm39) |
missense |
probably damaging |
0.99 |
PIT4520001:Rtkn2
|
UTSW |
10 |
67,823,291 (GRCm39) |
missense |
probably damaging |
1.00 |
R1167:Rtkn2
|
UTSW |
10 |
67,833,450 (GRCm39) |
missense |
probably damaging |
1.00 |
R2166:Rtkn2
|
UTSW |
10 |
67,877,526 (GRCm39) |
missense |
possibly damaging |
0.55 |
R2323:Rtkn2
|
UTSW |
10 |
67,837,764 (GRCm39) |
missense |
probably damaging |
1.00 |
R3826:Rtkn2
|
UTSW |
10 |
67,833,456 (GRCm39) |
splice site |
probably null |
|
R3827:Rtkn2
|
UTSW |
10 |
67,833,456 (GRCm39) |
splice site |
probably null |
|
R3828:Rtkn2
|
UTSW |
10 |
67,833,456 (GRCm39) |
splice site |
probably null |
|
R3829:Rtkn2
|
UTSW |
10 |
67,833,456 (GRCm39) |
splice site |
probably null |
|
R4742:Rtkn2
|
UTSW |
10 |
67,839,144 (GRCm39) |
missense |
possibly damaging |
0.72 |
R4867:Rtkn2
|
UTSW |
10 |
67,837,757 (GRCm39) |
missense |
probably damaging |
0.99 |
R4871:Rtkn2
|
UTSW |
10 |
67,841,463 (GRCm39) |
missense |
probably damaging |
1.00 |
R4936:Rtkn2
|
UTSW |
10 |
67,877,745 (GRCm39) |
makesense |
probably null |
|
R5009:Rtkn2
|
UTSW |
10 |
67,877,239 (GRCm39) |
missense |
probably benign |
0.14 |
R5709:Rtkn2
|
UTSW |
10 |
67,837,800 (GRCm39) |
missense |
probably benign |
0.31 |
R6295:Rtkn2
|
UTSW |
10 |
67,815,529 (GRCm39) |
start gained |
probably benign |
|
R6307:Rtkn2
|
UTSW |
10 |
67,871,662 (GRCm39) |
missense |
possibly damaging |
0.60 |
R6751:Rtkn2
|
UTSW |
10 |
67,877,283 (GRCm39) |
missense |
probably benign |
0.43 |
R6823:Rtkn2
|
UTSW |
10 |
67,862,462 (GRCm39) |
missense |
probably damaging |
0.96 |
R7011:Rtkn2
|
UTSW |
10 |
67,815,495 (GRCm39) |
unclassified |
probably benign |
|
R7369:Rtkn2
|
UTSW |
10 |
67,877,259 (GRCm39) |
missense |
probably damaging |
0.96 |
R7403:Rtkn2
|
UTSW |
10 |
67,841,466 (GRCm39) |
missense |
probably benign |
0.18 |
R7760:Rtkn2
|
UTSW |
10 |
67,841,439 (GRCm39) |
missense |
probably damaging |
1.00 |
R7803:Rtkn2
|
UTSW |
10 |
67,815,643 (GRCm39) |
critical splice donor site |
probably null |
|
R7992:Rtkn2
|
UTSW |
10 |
67,875,923 (GRCm39) |
missense |
probably damaging |
1.00 |
R9034:Rtkn2
|
UTSW |
10 |
67,841,416 (GRCm39) |
missense |
probably damaging |
1.00 |
R9301:Rtkn2
|
UTSW |
10 |
67,871,677 (GRCm39) |
missense |
possibly damaging |
0.85 |
R9383:Rtkn2
|
UTSW |
10 |
67,839,094 (GRCm39) |
missense |
possibly damaging |
0.94 |
Z1177:Rtkn2
|
UTSW |
10 |
67,861,433 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2016-08-02 |