Incidental Mutation 'R3828:Rtkn2'
| ID |
273855 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rtkn2
|
| Ensembl Gene |
ENSMUSG00000037846 |
| Gene Name |
rhotekin 2 |
| Synonyms |
Mbf, RTKN2, Plekhk1, B130039D23Rik |
| MMRRC Submission |
040886-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.114)
|
| Stock # |
R3828 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
67815371-67894259 bp(+) (GRCm39) |
| Type of Mutation |
splice site (3 bp from exon) |
| DNA Base Change (assembly) |
A to T
at 67833456 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112946
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068994]
[ENSMUST00000105437]
[ENSMUST00000105437]
[ENSMUST00000117086]
[ENSMUST00000117086]
[ENSMUST00000118160]
[ENSMUST00000118160]
[ENSMUST00000147556]
|
| AlphaFold |
Q14B46 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000068994
|
| SMART Domains |
Protein: ENSMUSP00000070717
Gene: ENSMUSG00000037846
| 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 null
Transcript: ENSMUST00000105437
|
| SMART Domains |
Protein: ENSMUSP00000101077
Gene: ENSMUSG00000037846
| 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 null
Transcript: ENSMUST00000105437
|
| SMART Domains |
Protein: ENSMUSP00000101077
Gene: ENSMUSG00000037846
| 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 null
Transcript: ENSMUST00000117086
|
| SMART Domains |
Protein: ENSMUSP00000112419
Gene: ENSMUSG00000037846
| 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 null
Transcript: ENSMUST00000117086
|
| SMART Domains |
Protein: ENSMUSP00000112419
Gene: ENSMUSG00000037846
| 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 null
Transcript: ENSMUST00000118160
|
| SMART Domains |
Protein: ENSMUSP00000112946
Gene: ENSMUSG00000037846
| 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 null
Transcript: ENSMUST00000118160
|
| SMART Domains |
Protein: ENSMUSP00000112946
Gene: ENSMUSG00000037846
| 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
|
| SMART Domains |
Protein: ENSMUSP00000116166
Gene: ENSMUSG00000037846
| 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 |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
100% (34/34) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Camk2b |
A |
G |
11: 5,978,932 (GRCm39) |
V32A |
probably damaging |
Het |
| Cbr2 |
A |
T |
11: 120,621,278 (GRCm39) |
H140Q |
probably benign |
Het |
| Cdk19 |
T |
C |
10: 40,351,609 (GRCm39) |
V258A |
probably damaging |
Het |
| Cep104 |
T |
G |
4: 154,069,400 (GRCm39) |
M207R |
probably damaging |
Het |
| Chd2 |
A |
G |
7: 73,141,163 (GRCm39) |
Y577H |
possibly damaging |
Het |
| Col4a1 |
C |
A |
8: 11,259,650 (GRCm39) |
G1341V |
probably damaging |
Het |
| Commd9 |
C |
A |
2: 101,727,486 (GRCm39) |
N93K |
probably benign |
Het |
| Cplane2 |
C |
T |
4: 140,945,900 (GRCm39) |
R148C |
probably damaging |
Het |
| Cx3cl1 |
A |
T |
8: 95,503,934 (GRCm39) |
|
probably benign |
Het |
| Cxcr6 |
A |
T |
9: 123,639,934 (GRCm39) |
M319L |
probably benign |
Het |
| Dlg5 |
T |
A |
14: 24,196,226 (GRCm39) |
K1308I |
probably damaging |
Het |
| Dnah17 |
G |
A |
11: 117,931,984 (GRCm39) |
|
probably benign |
Het |
| Ffar2 |
A |
T |
7: 30,519,510 (GRCm39) |
I10N |
possibly damaging |
Het |
| Gm17521 |
C |
A |
X: 121,938,922 (GRCm39) |
G149C |
unknown |
Het |
| Gm5862 |
T |
G |
5: 26,224,345 (GRCm39) |
H208P |
probably benign |
Het |
| Gpat4 |
G |
A |
8: 23,670,171 (GRCm39) |
P286L |
probably damaging |
Het |
| Ino80d |
A |
T |
1: 63,101,237 (GRCm39) |
M463K |
possibly damaging |
Het |
| Lrp2 |
G |
A |
2: 69,256,356 (GRCm39) |
P4595S |
probably benign |
Het |
| Mark4 |
A |
G |
7: 19,177,112 (GRCm39) |
I239T |
possibly damaging |
Het |
| Mcoln1 |
C |
T |
8: 3,550,601 (GRCm39) |
A2V |
possibly damaging |
Het |
| Mcts1 |
T |
C |
X: 37,691,445 (GRCm39) |
|
probably benign |
Het |
| Mrgprb5 |
T |
A |
7: 47,817,839 (GRCm39) |
M299L |
probably benign |
Het |
| Ncapg2 |
A |
T |
12: 116,370,938 (GRCm39) |
|
probably benign |
Het |
| Or56a3 |
A |
G |
7: 104,735,504 (GRCm39) |
N194D |
probably benign |
Het |
| Pcdhga4 |
G |
T |
18: 37,820,654 (GRCm39) |
L734F |
possibly damaging |
Het |
| Rrm2 |
G |
T |
12: 24,758,598 (GRCm39) |
A47S |
probably benign |
Het |
| Rsph6a |
T |
C |
7: 18,791,539 (GRCm39) |
L236P |
probably damaging |
Het |
| Stk11 |
T |
C |
10: 79,963,782 (GRCm39) |
|
probably null |
Het |
| Syt14 |
T |
C |
1: 192,584,083 (GRCm39) |
N444S |
probably damaging |
Het |
| Tmem59l |
A |
G |
8: 70,939,951 (GRCm39) |
L6S |
unknown |
Het |
| Tnks |
A |
G |
8: 35,340,332 (GRCm39) |
F429L |
probably damaging |
Het |
| Usp15 |
T |
A |
10: 123,032,775 (GRCm39) |
I16F |
possibly damaging |
Het |
| Vps50 |
T |
C |
6: 3,533,500 (GRCm39) |
I244T |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAGCTAGCTGCCGACTGAAC -3'
(R):5'- TCACTCGAGTGCCTGAAGAG -3'
Sequencing Primer
(F):5'- TGCCGACTGAACATCCTTGGAG -3'
(R):5'- CACTCGAGTGCCTGAAGAGAAGAC -3'
|
| Posted On |
2015-04-02 |
Incidental Mutation