Incidental Mutation 'R3827:Rtkn2'
ID |
273810 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rtkn2
|
Ensembl Gene |
ENSMUSG00000037846 |
Gene Name |
rhotekin 2 |
Synonyms |
Mbf, RTKN2, Plekhk1, B130039D23Rik |
MMRRC Submission |
040775-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.114)
|
Stock # |
R3827 (G1)
|
Quality Score |
225 |
Status
|
Not 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: 97.6%
- 20x: 96.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy5 |
A |
G |
16: 35,110,467 (GRCm39) |
N878S |
probably benign |
Het |
Bach2 |
T |
A |
4: 32,563,150 (GRCm39) |
L539H |
probably damaging |
Het |
Cntnap5a |
G |
A |
1: 116,045,409 (GRCm39) |
D342N |
probably benign |
Het |
Cx3cl1 |
A |
T |
8: 95,503,934 (GRCm39) |
|
probably benign |
Het |
Dpp10 |
G |
A |
1: 123,339,519 (GRCm39) |
T336I |
possibly damaging |
Het |
Ehmt2 |
T |
C |
17: 35,125,741 (GRCm39) |
S625P |
possibly damaging |
Het |
Fam234a |
T |
C |
17: 26,437,163 (GRCm39) |
E172G |
probably benign |
Het |
Ffar2 |
A |
T |
7: 30,519,510 (GRCm39) |
I10N |
possibly damaging |
Het |
Gab2 |
T |
A |
7: 96,872,948 (GRCm39) |
I117N |
probably damaging |
Het |
Gm17521 |
C |
A |
X: 121,938,922 (GRCm39) |
G149C |
unknown |
Het |
Gper1 |
T |
C |
5: 139,412,755 (GRCm39) |
S367P |
probably benign |
Het |
Grpel1 |
T |
A |
5: 36,626,827 (GRCm39) |
N36K |
probably benign |
Het |
H2-Q6 |
A |
T |
17: 35,644,655 (GRCm39) |
N148I |
probably damaging |
Het |
Kif21b |
T |
C |
1: 136,090,732 (GRCm39) |
|
probably null |
Het |
Myg1 |
G |
C |
15: 102,246,171 (GRCm39) |
G349R |
probably damaging |
Het |
Or1o4 |
T |
A |
17: 37,591,140 (GRCm39) |
Y57F |
probably damaging |
Het |
Or52e19 |
T |
A |
7: 102,959,009 (GRCm39) |
I27N |
probably benign |
Het |
Paip1 |
T |
A |
13: 119,566,768 (GRCm39) |
M1K |
probably null |
Het |
Rgs12 |
G |
A |
5: 35,123,359 (GRCm39) |
V381M |
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 |
Sh3bp1 |
T |
C |
15: 78,788,697 (GRCm39) |
S241P |
possibly damaging |
Het |
Skint6 |
G |
T |
4: 112,794,634 (GRCm39) |
L712I |
probably benign |
Het |
Slc35a4 |
C |
A |
18: 36,816,041 (GRCm39) |
N290K |
probably damaging |
Het |
Slco1a5 |
T |
A |
6: 142,198,975 (GRCm39) |
D230V |
probably damaging |
Het |
Sox21 |
C |
T |
14: 118,472,870 (GRCm39) |
E60K |
possibly damaging |
Het |
Steap3 |
G |
A |
1: 120,155,460 (GRCm39) |
R500C |
probably damaging |
Het |
Stk11 |
T |
C |
10: 79,963,782 (GRCm39) |
|
probably null |
Het |
Sulf1 |
G |
A |
1: 12,887,656 (GRCm39) |
V277I |
probably benign |
Het |
Svep1 |
A |
G |
4: 58,096,177 (GRCm39) |
L1481P |
probably damaging |
Het |
Syne2 |
A |
G |
12: 76,033,805 (GRCm39) |
R3685G |
probably benign |
Het |
Tmem203 |
T |
A |
2: 25,146,018 (GRCm39) |
W113R |
possibly damaging |
Het |
Tmem59l |
A |
G |
8: 70,939,951 (GRCm39) |
L6S |
unknown |
Het |
Tspan18 |
T |
C |
2: 93,050,453 (GRCm39) |
I57V |
probably benign |
Het |
Vmn2r102 |
T |
A |
17: 19,914,787 (GRCm39) |
V784E |
probably damaging |
Het |
Wrn |
T |
C |
8: 33,814,548 (GRCm39) |
T56A |
probably benign |
Het |
Zfhx4 |
A |
T |
3: 5,466,269 (GRCm39) |
K2142N |
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 |
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 |
|
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 |
|
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 |