Incidental Mutation 'R5709:Rtkn2'
| ID |
452138 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rtkn2
|
| Ensembl Gene |
ENSMUSG00000037846 |
| Gene Name |
rhotekin 2 |
| Synonyms |
Mbf, RTKN2, Plekhk1, B130039D23Rik |
| MMRRC Submission |
043184-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.114)
|
| Stock # |
R5709 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
67815371-67894259 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 67837800 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 117
(N117K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112946
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068994]
[ENSMUST00000105437]
[ENSMUST00000117086]
[ENSMUST00000118160]
[ENSMUST00000147556]
|
| AlphaFold |
Q14B46 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000068994
AA Change: N117K
PolyPhen 2
Score 0.310 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000070717
Gene: ENSMUSG00000037846
AA Change: N117K
| 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 |
probably benign
Transcript: ENSMUST00000105437
AA Change: N114K
PolyPhen 2
Score 0.310 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000101077
Gene: ENSMUSG00000037846
AA Change: N114K
| 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 benign
Transcript: ENSMUST00000117086
AA Change: N114K
PolyPhen 2
Score 0.307 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000112419
Gene: ENSMUSG00000037846
AA Change: N114K
| 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 |
probably benign
Transcript: ENSMUST00000118160
AA Change: N117K
PolyPhen 2
Score 0.310 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000112946
Gene: ENSMUSG00000037846
AA Change: N117K
| 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 benign
Transcript: ENSMUST00000147556
AA Change: N114K
PolyPhen 2
Score 0.307 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000116166
Gene: ENSMUSG00000037846
AA Change: N114K
| 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 |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Armt1 |
T |
G |
10: 4,384,903 (GRCm39) |
H39Q |
probably damaging |
Het |
| Car14 |
A |
T |
3: 95,806,300 (GRCm39) |
L284Q |
possibly damaging |
Het |
| Ccdc154 |
T |
C |
17: 25,389,118 (GRCm39) |
S437P |
probably damaging |
Het |
| Dpp9 |
C |
T |
17: 56,496,393 (GRCm39) |
V772I |
probably benign |
Het |
| Gm973 |
A |
T |
1: 59,591,714 (GRCm39) |
K366I |
possibly damaging |
Het |
| Gtf2h3 |
C |
T |
5: 124,722,360 (GRCm39) |
T121I |
probably benign |
Het |
| Iglc2 |
T |
C |
16: 19,017,384 (GRCm39) |
T74A |
probably benign |
Het |
| Inhbb |
T |
A |
1: 119,345,260 (GRCm39) |
Y343F |
probably damaging |
Het |
| Krt13 |
C |
T |
11: 100,008,469 (GRCm39) |
G423R |
unknown |
Het |
| Lama3 |
T |
G |
18: 12,672,856 (GRCm39) |
M2483R |
probably damaging |
Het |
| Lrrc66 |
T |
C |
5: 73,766,206 (GRCm39) |
E279G |
probably benign |
Het |
| Matr3 |
A |
G |
18: 35,715,015 (GRCm39) |
E205G |
probably damaging |
Het |
| Mkks |
G |
A |
2: 136,722,656 (GRCm39) |
T167I |
probably benign |
Het |
| Mmp24 |
T |
A |
2: 155,634,462 (GRCm39) |
Y61N |
probably damaging |
Het |
| Nfkb2 |
A |
G |
19: 46,298,960 (GRCm39) |
T665A |
probably damaging |
Het |
| Nlrp3 |
G |
A |
11: 59,446,574 (GRCm39) |
W773* |
probably null |
Het |
| Or10d5j |
A |
T |
9: 39,867,859 (GRCm39) |
V136E |
probably damaging |
Het |
| Prol1 |
A |
T |
5: 88,475,711 (GRCm39) |
R34* |
probably null |
Het |
| Rcn1 |
T |
C |
2: 105,225,128 (GRCm39) |
Y109C |
probably damaging |
Het |
| Rint1 |
T |
G |
5: 24,020,831 (GRCm39) |
V618G |
probably damaging |
Het |
| Sbno2 |
T |
C |
10: 79,922,171 (GRCm39) |
M1V |
probably null |
Het |
| Shb |
T |
C |
4: 45,458,327 (GRCm39) |
E279G |
probably damaging |
Het |
| Smarcad1 |
A |
G |
6: 65,051,746 (GRCm39) |
D293G |
probably benign |
Het |
| Sohlh2 |
T |
C |
3: 55,099,723 (GRCm39) |
L165P |
probably benign |
Het |
| Spred2 |
T |
C |
11: 19,971,415 (GRCm39) |
C428R |
probably damaging |
Het |
| Stra8 |
A |
T |
6: 34,904,697 (GRCm39) |
D13V |
possibly damaging |
Het |
| Tdrd12 |
A |
G |
7: 35,175,478 (GRCm39) |
V976A |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,773,731 (GRCm39) |
S2297P |
unknown |
Het |
| Ttn |
A |
G |
2: 76,725,002 (GRCm39) |
|
probably null |
Het |
| Usp1 |
A |
G |
4: 98,819,360 (GRCm39) |
D274G |
probably damaging |
Het |
| Vmn1r4 |
A |
G |
6: 56,933,604 (GRCm39) |
K36R |
probably benign |
Het |
| Zfp386 |
T |
A |
12: 116,023,305 (GRCm39) |
I306N |
probably benign |
Het |
| Zmpste24 |
T |
C |
4: 120,923,075 (GRCm39) |
D380G |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCAATAAGGAAGTCAGCGTGAC -3'
(R):5'- GAACTGATGTGCGGTCCCC -3'
Sequencing Primer
(F):5'- CAATTTCCACAGGACCTGAGTTGG -3'
(R):5'- CCAAGTCAGAAATCGACAGTTTG -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation