Incidental Mutation 'IGL01338:Rtkn2'
ID |
74691 |
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 # |
IGL01338
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
67815371-67894259 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 67861349 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Phenylalanine
at position 258
(C258F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000112946
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068994]
[ENSMUST00000105437]
[ENSMUST00000117086]
[ENSMUST00000118160]
[ENSMUST00000147556]
|
AlphaFold |
Q14B46 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000068994
AA Change: C258F
PolyPhen 2
Score 0.835 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000070717 Gene: ENSMUSG00000037846 AA Change: C258F
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: C256F
PolyPhen 2
Score 0.494 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000101077 Gene: ENSMUSG00000037846 AA Change: C256F
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 |
possibly damaging
Transcript: ENSMUST00000117086
AA Change: C255F
PolyPhen 2
Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000112419 Gene: ENSMUSG00000037846 AA Change: C255F
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: C258F
PolyPhen 2
Score 0.835 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000112946 Gene: ENSMUSG00000037846 AA Change: C258F
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 |
noncoding transcript
Transcript: ENSMUST00000136190
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143555
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000147556
AA Change: C255F
PolyPhen 2
Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000116166 Gene: ENSMUSG00000037846 AA Change: C255F
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam23 |
A |
G |
1: 63,591,014 (GRCm39) |
T494A |
possibly damaging |
Het |
Adamts16 |
C |
T |
13: 70,984,234 (GRCm39) |
C143Y |
probably damaging |
Het |
Cacna1i |
A |
G |
15: 80,232,581 (GRCm39) |
I195V |
probably damaging |
Het |
Casp7 |
T |
C |
19: 56,392,896 (GRCm39) |
S17P |
probably benign |
Het |
Cfap298 |
T |
C |
16: 90,722,936 (GRCm39) |
N266S |
possibly damaging |
Het |
Cox6a1 |
C |
A |
5: 115,483,898 (GRCm39) |
|
probably benign |
Het |
Cpvl |
T |
A |
6: 53,951,640 (GRCm39) |
S48C |
possibly damaging |
Het |
Cyp2b19 |
G |
T |
7: 26,458,842 (GRCm39) |
M138I |
probably benign |
Het |
Dennd5a |
T |
C |
7: 109,518,611 (GRCm39) |
Y510C |
possibly damaging |
Het |
Derl2 |
A |
G |
11: 70,901,181 (GRCm39) |
F229S |
possibly damaging |
Het |
Dlec1 |
A |
G |
9: 118,949,979 (GRCm39) |
E452G |
probably damaging |
Het |
Dsc2 |
T |
C |
18: 20,180,214 (GRCm39) |
K180E |
probably benign |
Het |
Dus1l |
G |
A |
11: 120,683,918 (GRCm39) |
R177C |
possibly damaging |
Het |
Egfr |
A |
G |
11: 16,813,020 (GRCm39) |
I167V |
probably damaging |
Het |
Fam219b |
A |
T |
9: 57,445,305 (GRCm39) |
|
probably null |
Het |
Fn1 |
T |
C |
1: 71,665,369 (GRCm39) |
E916G |
probably damaging |
Het |
Gm2058 |
C |
T |
7: 39,238,580 (GRCm39) |
|
noncoding transcript |
Het |
Gpd1 |
T |
A |
15: 99,616,056 (GRCm39) |
V22E |
probably damaging |
Het |
Hsf2 |
T |
C |
10: 57,377,475 (GRCm39) |
F124L |
probably damaging |
Het |
I0C0044D17Rik |
A |
G |
4: 98,708,336 (GRCm39) |
|
probably benign |
Het |
Igfbp3 |
A |
T |
11: 7,158,478 (GRCm39) |
F262I |
possibly damaging |
Het |
Klhl18 |
A |
G |
9: 110,284,501 (GRCm39) |
Y62H |
probably damaging |
Het |
Lama2 |
C |
T |
10: 27,064,268 (GRCm39) |
E1238K |
probably benign |
Het |
Man1b1 |
A |
G |
2: 25,228,239 (GRCm39) |
K170E |
probably benign |
Het |
Mcrs1 |
A |
T |
15: 99,147,382 (GRCm39) |
I39N |
probably damaging |
Het |
Mug2 |
T |
C |
6: 122,026,587 (GRCm39) |
|
probably benign |
Het |
Neu3 |
C |
A |
7: 99,462,629 (GRCm39) |
G365W |
probably damaging |
Het |
Nipal3 |
A |
C |
4: 135,199,194 (GRCm39) |
|
probably null |
Het |
Nrxn3 |
A |
G |
12: 89,221,804 (GRCm39) |
I528V |
possibly damaging |
Het |
Or10al6 |
A |
T |
17: 38,082,730 (GRCm39) |
H71L |
possibly damaging |
Het |
Osbpl8 |
A |
G |
10: 111,103,608 (GRCm39) |
K204R |
probably damaging |
Het |
Pax8 |
A |
G |
2: 24,325,931 (GRCm39) |
S318P |
possibly damaging |
Het |
Pcdh18 |
T |
A |
3: 49,710,590 (GRCm39) |
N242Y |
probably damaging |
Het |
Pkd1l2 |
T |
A |
8: 117,786,259 (GRCm39) |
K649* |
probably null |
Het |
Ppm1n |
A |
T |
7: 19,013,179 (GRCm39) |
D257E |
probably benign |
Het |
Pxdn |
A |
G |
12: 30,052,796 (GRCm39) |
E811G |
probably damaging |
Het |
Relb |
T |
C |
7: 19,350,298 (GRCm39) |
I218V |
probably benign |
Het |
Rreb1 |
T |
C |
13: 38,115,010 (GRCm39) |
C790R |
probably damaging |
Het |
Scn11a |
G |
A |
9: 119,613,227 (GRCm39) |
|
probably benign |
Het |
Snx8 |
G |
A |
5: 140,343,851 (GRCm39) |
R96C |
probably damaging |
Het |
Syne2 |
A |
T |
12: 76,107,000 (GRCm39) |
T5649S |
possibly damaging |
Het |
Tm2d3 |
T |
A |
7: 65,344,970 (GRCm39) |
C82* |
probably null |
Het |
Tnpo2 |
T |
C |
8: 85,767,155 (GRCm39) |
L55P |
probably damaging |
Het |
Tsc22d2 |
T |
C |
3: 58,324,836 (GRCm39) |
|
probably benign |
Het |
Ttll3 |
T |
G |
6: 113,371,690 (GRCm39) |
V19G |
probably damaging |
Het |
Ube2r2 |
A |
G |
4: 41,174,119 (GRCm39) |
I86V |
probably benign |
Het |
Vps13d |
G |
A |
4: 144,814,892 (GRCm39) |
T3153I |
probably damaging |
Het |
Wwp1 |
A |
G |
4: 19,627,636 (GRCm39) |
I753T |
probably damaging |
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 |
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 |
IGL03383:Rtkn2
|
APN |
10 |
67,853,667 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
2013-10-07 |