Incidental Mutation 'R2166:Stk19'
| ID |
235513 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Stk19
|
| Ensembl Gene |
ENSMUSG00000061207 |
| Gene Name |
serine/threonine kinase 19 |
| Synonyms |
RP1, G11 |
| MMRRC Submission |
040169-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.401)
|
| Stock # |
R2166 (G1)
|
| Quality Score |
165 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
35042969-35055879 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 35051486 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 23
(I23T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125311
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046244]
[ENSMUST00000077477]
[ENSMUST00000159333]
[ENSMUST00000161885]
[ENSMUST00000173874]
[ENSMUST00000174092]
[ENSMUST00000173995]
[ENSMUST00000180043]
|
| AlphaFold |
Q9JHN8 |
| 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 benign
Transcript: ENSMUST00000077477
AA Change: I90T
PolyPhen 2
Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000076686
Gene: ENSMUSG00000061207
AA Change: I90T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Stk19
|
37 |
251 |
1e-37 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000159333
AA Change: I23T
PolyPhen 2
Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000125311
Gene: ENSMUSG00000061207
AA Change: I23T
| 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 |
probably benign
Transcript: ENSMUST00000162055
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173644
|
| 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: 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: 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 |
|
| Meta Mutation Damage Score |
0.4663 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
100% (42/42) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
A |
T |
13: 81,716,762 (GRCm39) |
F779I |
probably damaging |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| Birc6 |
A |
T |
17: 74,942,790 (GRCm39) |
T2761S |
probably benign |
Het |
| Cav1 |
A |
T |
6: 17,339,430 (GRCm39) |
I141F |
possibly damaging |
Het |
| Cmklr2 |
A |
G |
1: 63,223,107 (GRCm39) |
F43L |
probably benign |
Het |
| Gm973 |
A |
G |
1: 59,565,898 (GRCm39) |
D39G |
possibly damaging |
Het |
| Gucy1a2 |
T |
A |
9: 3,579,513 (GRCm39) |
|
probably null |
Het |
| Il1b |
A |
T |
2: 129,206,968 (GRCm39) |
M264K |
probably damaging |
Het |
| Itpr1 |
A |
G |
6: 108,365,186 (GRCm39) |
Y38C |
probably damaging |
Het |
| Kcnb2 |
A |
C |
1: 15,781,540 (GRCm39) |
D804A |
possibly damaging |
Het |
| Kcnt1 |
T |
A |
2: 25,781,195 (GRCm39) |
|
probably benign |
Het |
| Krt6b |
T |
C |
15: 101,587,050 (GRCm39) |
|
probably null |
Het |
| Mef2a |
A |
G |
7: 66,915,870 (GRCm39) |
V144A |
probably damaging |
Het |
| Mroh3 |
A |
G |
1: 136,113,791 (GRCm39) |
M666T |
probably benign |
Het |
| Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
| Nalcn |
T |
A |
14: 123,607,363 (GRCm39) |
Y702F |
probably benign |
Het |
| Napepld |
T |
A |
5: 21,888,230 (GRCm39) |
K73I |
possibly damaging |
Het |
| Or5h23 |
T |
A |
16: 58,905,949 (GRCm39) |
K299I |
probably benign |
Het |
| Or8g21 |
G |
A |
9: 38,906,513 (GRCm39) |
Q73* |
probably null |
Het |
| Pappa |
A |
C |
4: 65,074,682 (GRCm39) |
D412A |
probably damaging |
Het |
| Plbd1 |
A |
G |
6: 136,590,788 (GRCm39) |
|
probably null |
Het |
| Ppp1r10 |
G |
T |
17: 36,241,481 (GRCm39) |
R752L |
unknown |
Het |
| Prep |
T |
C |
10: 44,968,751 (GRCm39) |
|
probably benign |
Het |
| Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
| Ptprz1 |
A |
G |
6: 23,045,632 (GRCm39) |
N2134S |
possibly damaging |
Het |
| Rhbdl3 |
A |
G |
11: 80,210,523 (GRCm39) |
Y92C |
probably damaging |
Het |
| Rtkn2 |
T |
C |
10: 67,877,526 (GRCm39) |
S532P |
possibly damaging |
Het |
| Rtl1 |
T |
A |
12: 109,556,988 (GRCm39) |
H1617L |
probably damaging |
Het |
| Skint6 |
T |
A |
4: 112,711,649 (GRCm39) |
N956I |
probably benign |
Het |
| Slc13a2 |
A |
G |
11: 78,293,901 (GRCm39) |
V287A |
probably benign |
Het |
| Slc9a2 |
A |
G |
1: 40,781,928 (GRCm39) |
K386E |
probably damaging |
Het |
| Spata20 |
G |
A |
11: 94,369,930 (GRCm39) |
H789Y |
probably benign |
Het |
| Tonsl |
A |
G |
15: 76,521,513 (GRCm39) |
I293T |
probably benign |
Het |
| Topbp1 |
A |
G |
9: 103,190,128 (GRCm39) |
|
probably null |
Het |
| Trappc2l |
T |
A |
8: 123,339,901 (GRCm39) |
S44T |
probably benign |
Het |
| Tsr1 |
A |
G |
11: 74,798,280 (GRCm39) |
|
probably null |
Het |
| Ugdh |
A |
G |
5: 65,574,357 (GRCm39) |
|
probably benign |
Het |
| Unc119 |
A |
G |
11: 78,238,161 (GRCm39) |
|
probably null |
Het |
| Zkscan14 |
G |
A |
5: 145,132,944 (GRCm39) |
P196S |
probably benign |
Het |
| Zmat4 |
T |
C |
8: 24,392,152 (GRCm39) |
L36P |
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 |
|
|
R0087:Stk19
|
UTSW |
17 |
35,055,851 (GRCm39) |
start codon destroyed |
probably null |
0.53 |
|
R1613:Stk19
|
UTSW |
17 |
35,043,574 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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'- TGTCGGTAACCAGCATGAGC -3'
(R):5'- TCACCTGAGTGTCTTCGTGG -3'
Sequencing Primer
(F):5'- AGAACTCTGTGCCCTCTATGG -3'
(R):5'- GTCTTCGTGGTAAATGTCCTAATC -3'
|
| Posted On |
2014-10-01 |
Incidental Mutation