Incidental Mutation 'R0087:Stk19'
ID |
19982 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Stk19
|
Ensembl Gene |
ENSMUSG00000061207 |
Gene Name |
serine/threonine kinase 19 |
Synonyms |
RP1, G11 |
MMRRC Submission |
038374-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.401)
|
Stock # |
R0087 (G1)
|
Quality Score |
220 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
35042969-35055879 bp(-) (GRCm39) |
Type of Mutation |
start codon destroyed |
DNA Base Change (assembly) |
A to T
at 35055851 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 1
(M1K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000076686
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046022]
[ENSMUST00000046244]
[ENSMUST00000077477]
[ENSMUST00000159333]
[ENSMUST00000161885]
[ENSMUST00000173768]
[ENSMUST00000173874]
[ENSMUST00000174092]
[ENSMUST00000173415]
[ENSMUST00000173995]
[ENSMUST00000172612]
[ENSMUST00000173063]
[ENSMUST00000180043]
|
AlphaFold |
Q9JHN8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000046022
|
SMART Domains |
Protein: ENSMUSP00000036265 Gene: ENSMUSG00000040356
Domain | Start | End | E-Value | Type |
low complexity region
|
7 |
22 |
N/A |
INTRINSIC |
low complexity region
|
171 |
176 |
N/A |
INTRINSIC |
low complexity region
|
208 |
237 |
N/A |
INTRINSIC |
low complexity region
|
269 |
279 |
N/A |
INTRINSIC |
DEXDc
|
304 |
487 |
3.61e-28 |
SMART |
low complexity region
|
583 |
592 |
N/A |
INTRINSIC |
HELICc
|
619 |
705 |
8.63e-17 |
SMART |
Pfam:rRNA_proc-arch
|
760 |
1044 |
9.7e-39 |
PFAM |
DSHCT
|
1067 |
1243 |
7.67e-77 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000046244
|
SMART Domains |
Protein: ENSMUSP00000047018 Gene: ENSMUSG00000040482
Domain | Start | End | E-Value | Type |
low complexity region
|
168 |
184 |
N/A |
INTRINSIC |
Pfam:RAI1
|
235 |
303 |
2e-28 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000077477
AA Change: M1K
PolyPhen 2
Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000076686 Gene: ENSMUSG00000061207 AA Change: M1K
Domain | Start | End | E-Value | Type |
Pfam:Stk19
|
37 |
251 |
1e-37 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000159333
|
SMART Domains |
Protein: ENSMUSP00000125311 Gene: ENSMUSG00000061207
Domain | Start | End | E-Value | Type |
Pfam:Stk19
|
1 |
129 |
3.2e-16 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160993
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161238
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000161885
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172803
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172878
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174226
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174363
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173644
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173768
|
SMART Domains |
Protein: ENSMUSP00000134052 Gene: ENSMUSG00000040482
Domain | Start | End | E-Value | Type |
Pfam:RAI1
|
1 |
33 |
5.6e-15 |
PFAM |
low complexity region
|
54 |
64 |
N/A |
INTRINSIC |
low complexity region
|
73 |
88 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000174569
|
SMART Domains |
Protein: ENSMUSP00000133448 Gene: ENSMUSG00000040482
Domain | Start | End | E-Value | Type |
Pfam:RAI1
|
15 |
65 |
1.3e-15 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000173874
|
SMART Domains |
Protein: ENSMUSP00000134332 Gene: ENSMUSG00000040482
Domain | Start | End | E-Value | Type |
low complexity region
|
168 |
184 |
N/A |
INTRINSIC |
Pfam:RAI1
|
235 |
303 |
4.2e-29 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000174092
|
SMART Domains |
Protein: ENSMUSP00000133587 Gene: ENSMUSG00000040482
Domain | Start | End | E-Value | Type |
Pfam:RAI1
|
110 |
151 |
5.3e-15 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000173415
|
SMART Domains |
Protein: ENSMUSP00000134209 Gene: ENSMUSG00000040356
Domain | Start | End | E-Value | Type |
PDB:4A4Z|A
|
10 |
81 |
8e-14 |
PDB |
Blast:DEXDc
|
19 |
76 |
2e-29 |
BLAST |
Blast:DEXDc
|
136 |
242 |
9e-28 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000173995
|
SMART Domains |
Protein: ENSMUSP00000134583 Gene: ENSMUSG00000040482
Domain | Start | End | E-Value | Type |
PDB:3FQJ|A
|
1 |
144 |
5e-99 |
PDB |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000172612
|
SMART Domains |
Protein: ENSMUSP00000133376 Gene: ENSMUSG00000040482
Domain | Start | End | E-Value | Type |
Pfam:RAI1
|
5 |
73 |
1.6e-29 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000162055
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000173063
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183497
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174887
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000174684
|
SMART Domains |
Protein: ENSMUSP00000134653 Gene: ENSMUSG00000040482
Domain | Start | End | E-Value | Type |
PDB:3FQJ|A
|
2 |
48 |
1e-11 |
PDB |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000180043
|
SMART Domains |
Protein: ENSMUSP00000137234 Gene: ENSMUSG00000040482
Domain | Start | End | E-Value | Type |
low complexity region
|
168 |
184 |
N/A |
INTRINSIC |
Pfam:RAI1
|
235 |
302 |
2e-25 |
PFAM |
|
Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.6%
- 10x: 93.5%
- 20x: 82.3%
|
Validation Efficiency |
86% (59/69) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a serine/threonine kinase which localizes predominantly to the nucleus. Its specific function is unknown; it is possible that phosphorylation of this protein is involved in transcriptional regulation. This gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6 and expresses two transcript variants. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Add3 |
T |
A |
19: 53,215,038 (GRCm39) |
L71Q |
probably damaging |
Het |
Adgrv1 |
T |
A |
13: 81,535,070 (GRCm39) |
I5732F |
probably damaging |
Het |
Adss2 |
A |
T |
1: 177,598,788 (GRCm39) |
V330E |
probably benign |
Het |
Agps |
T |
A |
2: 75,739,979 (GRCm39) |
Y488N |
probably damaging |
Het |
Ap3s1 |
A |
T |
18: 46,891,106 (GRCm39) |
R66S |
probably damaging |
Het |
Ass1 |
A |
T |
2: 31,404,831 (GRCm39) |
N371Y |
probably damaging |
Het |
Atp2a2 |
C |
T |
5: 122,599,024 (GRCm39) |
V593I |
probably benign |
Het |
Chrna6 |
C |
T |
8: 27,897,014 (GRCm39) |
V288M |
probably damaging |
Het |
Col4a2 |
C |
T |
8: 11,491,296 (GRCm39) |
L1232F |
probably benign |
Het |
Dcaf1 |
A |
G |
9: 106,740,288 (GRCm39) |
N1225D |
probably damaging |
Het |
Degs1 |
A |
G |
1: 182,106,875 (GRCm39) |
I128T |
probably benign |
Het |
Dnaaf11 |
T |
C |
15: 66,341,824 (GRCm39) |
T91A |
probably benign |
Het |
Dnah5 |
A |
T |
15: 28,350,759 (GRCm39) |
T2594S |
probably damaging |
Het |
Dnah8 |
G |
T |
17: 30,974,093 (GRCm39) |
R2826L |
probably damaging |
Het |
Elf3 |
A |
G |
1: 135,184,875 (GRCm39) |
Y104H |
probably damaging |
Het |
Fam222b |
C |
A |
11: 78,044,718 (GRCm39) |
T93N |
probably benign |
Het |
Fbxw26 |
A |
G |
9: 109,554,006 (GRCm39) |
I211T |
probably benign |
Het |
Fcho2 |
T |
C |
13: 98,871,594 (GRCm39) |
T541A |
probably benign |
Het |
Flg2 |
T |
C |
3: 93,109,738 (GRCm39) |
S589P |
unknown |
Het |
Foxj3 |
T |
A |
4: 119,483,597 (GRCm39) |
V589E |
unknown |
Het |
Gria1 |
A |
G |
11: 57,208,538 (GRCm39) |
Y742C |
probably damaging |
Het |
Inpp5d |
T |
C |
1: 87,642,860 (GRCm39) |
S672P |
probably damaging |
Het |
Lrrc19 |
A |
C |
4: 94,529,009 (GRCm39) |
F91C |
probably damaging |
Het |
Mppe1 |
A |
G |
18: 67,358,775 (GRCm39) |
*398R |
probably null |
Het |
Mroh3 |
T |
C |
1: 136,118,541 (GRCm39) |
I561V |
probably benign |
Het |
Myh11 |
C |
A |
16: 14,041,883 (GRCm39) |
Q720H |
probably damaging |
Het |
Nbea |
G |
T |
3: 55,998,444 (GRCm39) |
T121K |
possibly damaging |
Het |
Nbr1 |
A |
C |
11: 101,455,519 (GRCm39) |
D91A |
probably benign |
Het |
Ncam2 |
C |
A |
16: 81,231,789 (GRCm39) |
N84K |
probably benign |
Het |
Or4c35 |
T |
C |
2: 89,808,475 (GRCm39) |
Y118H |
probably damaging |
Het |
Or51ac3 |
A |
T |
7: 103,213,569 (GRCm39) |
C306S |
probably benign |
Het |
Or52h9 |
A |
G |
7: 104,202,869 (GRCm39) |
I248V |
possibly damaging |
Het |
Or52z13 |
A |
G |
7: 103,246,928 (GRCm39) |
Y135C |
probably benign |
Het |
Or6b6 |
A |
G |
7: 106,571,323 (GRCm39) |
V76A |
probably benign |
Het |
Pdgfrb |
A |
T |
18: 61,194,585 (GRCm39) |
I121F |
probably damaging |
Het |
Peak1 |
A |
T |
9: 56,165,609 (GRCm39) |
I773N |
probably damaging |
Het |
Pfkfb4 |
G |
T |
9: 108,836,769 (GRCm39) |
V155F |
probably damaging |
Het |
Pkm |
C |
T |
9: 59,585,382 (GRCm39) |
R455* |
probably null |
Het |
Plbd2 |
C |
A |
5: 120,632,550 (GRCm39) |
E151* |
probably null |
Het |
Pld5 |
G |
A |
1: 175,812,025 (GRCm39) |
T353M |
probably damaging |
Het |
Psme2b |
A |
T |
11: 48,836,544 (GRCm39) |
D134E |
possibly damaging |
Het |
Rida |
T |
A |
15: 34,488,772 (GRCm39) |
D40V |
possibly damaging |
Het |
Rnf126 |
A |
T |
10: 79,595,068 (GRCm39) |
H265Q |
probably damaging |
Het |
Rock2 |
C |
A |
12: 16,978,967 (GRCm39) |
Q86K |
probably benign |
Het |
Serpinb1b |
A |
T |
13: 33,269,302 (GRCm39) |
T12S |
probably benign |
Het |
Slco6c1 |
T |
A |
1: 97,046,303 (GRCm39) |
Q277L |
probably benign |
Het |
Spmap2 |
A |
T |
10: 79,421,785 (GRCm39) |
Y144* |
probably null |
Het |
Sptlc2 |
T |
A |
12: 87,415,892 (GRCm39) |
H45L |
probably benign |
Het |
Srsf4 |
A |
G |
4: 131,627,641 (GRCm39) |
|
probably benign |
Het |
Sspo |
A |
G |
6: 48,454,719 (GRCm39) |
S2969G |
probably damaging |
Het |
Steap1 |
C |
T |
5: 5,786,664 (GRCm39) |
G258R |
probably damaging |
Het |
Stk-ps2 |
C |
A |
1: 46,069,049 (GRCm39) |
|
noncoding transcript |
Het |
Taf1c |
C |
T |
8: 120,327,726 (GRCm39) |
R332H |
probably damaging |
Het |
Thbs4 |
T |
A |
13: 92,891,743 (GRCm39) |
T791S |
probably damaging |
Het |
Tjap1 |
A |
G |
17: 46,574,652 (GRCm39) |
L21P |
probably damaging |
Het |
Tmem145 |
A |
G |
7: 25,007,268 (GRCm39) |
Y148C |
probably damaging |
Het |
Tmem267 |
T |
A |
13: 120,070,810 (GRCm39) |
V155E |
probably benign |
Het |
Tns1 |
T |
A |
1: 73,956,076 (GRCm39) |
H549L |
possibly damaging |
Het |
Tyro3 |
T |
G |
2: 119,632,182 (GRCm39) |
I83S |
probably benign |
Het |
Ubxn4 |
G |
A |
1: 128,190,641 (GRCm39) |
E256K |
probably benign |
Het |
Vmn1r53 |
A |
T |
6: 90,200,413 (GRCm39) |
C304S |
probably benign |
Het |
Vwf |
G |
A |
6: 125,622,917 (GRCm39) |
M1761I |
probably benign |
Het |
Zfp276 |
T |
C |
8: 123,991,786 (GRCm39) |
Y445H |
probably damaging |
Het |
Zfp407 |
A |
T |
18: 84,578,536 (GRCm39) |
I859N |
probably damaging |
Het |
|
Other mutations in Stk19 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02192:Stk19
|
APN |
17 |
35,051,134 (GRCm39) |
unclassified |
probably benign |
|
R1613:Stk19
|
UTSW |
17 |
35,043,574 (GRCm39) |
missense |
probably damaging |
0.99 |
R2166:Stk19
|
UTSW |
17 |
35,051,486 (GRCm39) |
missense |
possibly damaging |
0.77 |
R3946:Stk19
|
UTSW |
17 |
35,043,723 (GRCm39) |
splice site |
probably benign |
|
R4510:Stk19
|
UTSW |
17 |
35,051,504 (GRCm39) |
missense |
probably damaging |
0.97 |
R4511:Stk19
|
UTSW |
17 |
35,051,504 (GRCm39) |
missense |
probably damaging |
0.97 |
R4721:Stk19
|
UTSW |
17 |
35,042,120 (GRCm39) |
splice site |
probably null |
|
R4798:Stk19
|
UTSW |
17 |
35,041,485 (GRCm39) |
unclassified |
probably benign |
|
R5225:Stk19
|
UTSW |
17 |
35,040,400 (GRCm39) |
unclassified |
probably benign |
|
R5244:Stk19
|
UTSW |
17 |
35,051,046 (GRCm39) |
missense |
probably damaging |
1.00 |
R5594:Stk19
|
UTSW |
17 |
35,039,538 (GRCm39) |
unclassified |
probably benign |
|
R6332:Stk19
|
UTSW |
17 |
35,043,574 (GRCm39) |
missense |
probably damaging |
0.99 |
R6692:Stk19
|
UTSW |
17 |
35,043,770 (GRCm39) |
missense |
probably benign |
0.00 |
R7529:Stk19
|
UTSW |
17 |
35,043,632 (GRCm39) |
missense |
probably benign |
0.03 |
R8440:Stk19
|
UTSW |
17 |
35,055,456 (GRCm39) |
missense |
possibly damaging |
0.89 |
R9261:Stk19
|
UTSW |
17 |
35,051,432 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
Predicted Primers |
PCR Primer
(F):5'- ACCAGACTGTACACTTGGCTCCTC -3'
(R):5'- AGTTGCTGTTTCTGATGACGCTCTC -3'
Sequencing Primer
(F):5'- tcctcctcctcctcctcc -3'
(R):5'- GATGACGCTCTCATCCGC -3'
|
Posted On |
2013-04-11 |