Incidental Mutation 'R1282:Snrk'
| ID |
151065 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Snrk
|
| Ensembl Gene |
ENSMUSG00000038145 |
| Gene Name |
SNF related kinase |
| Synonyms |
SNRK, 2010012F07Rik |
| MMRRC Submission |
039348-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.733)
|
| Stock # |
R1282 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
121946332-121998768 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 121989586 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 310
(R310L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112919
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000118886]
[ENSMUST00000119215]
[ENSMUST00000120173]
[ENSMUST00000134949]
|
| AlphaFold |
Q8VDU5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000118886
AA Change: R310L
PolyPhen 2
Score 0.768 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000114132
Gene: ENSMUSG00000038145
AA Change: R310L
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
16 |
269 |
6.85e-104 |
SMART |
|
Blast:S_TKc
|
361 |
671 |
6e-91 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000119215
|
| SMART Domains |
Protein: ENSMUSP00000113906
Gene: ENSMUSG00000038145
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
16 |
219 |
8.7e-11 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000120173
AA Change: R310L
PolyPhen 2
Score 0.768 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000112919
Gene: ENSMUSG00000038145
AA Change: R310L
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
16 |
269 |
6.85e-104 |
SMART |
|
Blast:S_TKc
|
361 |
671 |
6e-91 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131169
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000134949
AA Change: R310L
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000119878
Gene: ENSMUSG00000038145
AA Change: R310L
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
16 |
269 |
6.85e-104 |
SMART |
|
Blast:S_TKc
|
361 |
409 |
1e-17 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151872
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217631
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.4%
- 20x: 93.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] SNRK is a member of the sucrose nonfermenting (SNF)-related kinase family of serine/threonine kinases (Kertesz et al., 2002 [PubMed 12234663]).[supplied by OMIM, Apr 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit neonatal lethality with enlarged left ventricle and altered lipid levels. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acmsd |
T |
C |
1: 127,666,297 (GRCm39) |
Y23H |
probably damaging |
Het |
| Alkbh2 |
C |
T |
5: 114,262,287 (GRCm39) |
E148K |
probably damaging |
Het |
| Atp2a2 |
G |
T |
5: 122,629,817 (GRCm39) |
T84K |
probably benign |
Het |
| Cfap65 |
T |
A |
1: 74,964,263 (GRCm39) |
T562S |
probably benign |
Het |
| Cyp2b10 |
G |
A |
7: 25,625,505 (GRCm39) |
C436Y |
probably damaging |
Het |
| Dnajc7 |
T |
C |
11: 100,475,467 (GRCm39) |
D381G |
probably damaging |
Het |
| Dnase1l3 |
T |
C |
14: 7,983,117 (GRCm38) |
D129G |
probably benign |
Het |
| Espl1 |
A |
G |
15: 102,223,826 (GRCm39) |
T1126A |
probably benign |
Het |
| Exoc3 |
T |
C |
13: 74,330,411 (GRCm39) |
N506S |
probably benign |
Het |
| Fastkd3 |
C |
A |
13: 68,732,676 (GRCm39) |
N332K |
possibly damaging |
Het |
| Fbxw15 |
G |
A |
9: 109,387,314 (GRCm39) |
S227F |
probably damaging |
Het |
| Foxp4 |
G |
A |
17: 48,186,568 (GRCm39) |
P404S |
unknown |
Het |
| Gjb3 |
G |
A |
4: 127,220,224 (GRCm39) |
R103W |
probably damaging |
Het |
| Gm12789 |
T |
A |
4: 101,845,487 (GRCm39) |
W59R |
probably damaging |
Het |
| Greb1l |
T |
A |
18: 10,547,289 (GRCm39) |
N1502K |
probably benign |
Het |
| H2-K2 |
A |
C |
17: 34,218,421 (GRCm39) |
I165S |
probably damaging |
Het |
| Ipo9 |
A |
G |
1: 135,330,030 (GRCm39) |
I470T |
possibly damaging |
Het |
| Kcnu1 |
A |
T |
8: 26,395,985 (GRCm39) |
I657F |
probably benign |
Het |
| Lrp1b |
A |
T |
2: 40,750,773 (GRCm39) |
N2930K |
probably damaging |
Het |
| Or56a5 |
T |
A |
7: 104,792,859 (GRCm39) |
I220F |
probably benign |
Het |
| Prag1 |
T |
C |
8: 36,567,068 (GRCm39) |
V73A |
probably damaging |
Het |
| Prrc2b |
T |
C |
2: 32,113,456 (GRCm39) |
I1963T |
probably damaging |
Het |
| Rep15 |
C |
T |
6: 146,934,727 (GRCm39) |
R189* |
probably null |
Het |
| Resf1 |
C |
T |
6: 149,230,670 (GRCm39) |
Q1239* |
probably null |
Het |
| Rtp3 |
T |
C |
9: 110,815,988 (GRCm39) |
K188E |
probably benign |
Het |
| Scd2 |
T |
C |
19: 44,283,620 (GRCm39) |
L101P |
probably damaging |
Het |
| Scn7a |
A |
T |
2: 66,531,193 (GRCm39) |
H561Q |
probably damaging |
Het |
| Sfr1 |
T |
C |
19: 47,721,407 (GRCm39) |
S118P |
probably damaging |
Het |
| Slf1 |
C |
T |
13: 77,191,959 (GRCm39) |
M958I |
probably damaging |
Het |
| Snx11 |
T |
C |
11: 96,663,987 (GRCm39) |
Y35C |
probably damaging |
Het |
| Supt6 |
T |
C |
11: 78,119,594 (GRCm39) |
T404A |
possibly damaging |
Het |
| Svep1 |
C |
A |
4: 58,100,032 (GRCm39) |
L1337F |
possibly damaging |
Het |
| Traf3ip2 |
C |
T |
10: 39,502,401 (GRCm39) |
T183M |
probably damaging |
Het |
| Vmn2r28 |
A |
T |
7: 5,484,301 (GRCm39) |
M633K |
probably damaging |
Het |
| Vmn2r67 |
A |
G |
7: 84,785,932 (GRCm39) |
V691A |
probably benign |
Het |
|
| Other mutations in Snrk |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02252:Snrk
|
APN |
9 |
121,986,326 (GRCm39) |
missense |
probably damaging |
1.00 |
|
saadat
|
UTSW |
9 |
121,995,610 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0017:Snrk
|
UTSW |
9 |
121,995,306 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0564:Snrk
|
UTSW |
9 |
121,995,610 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R3835:Snrk
|
UTSW |
9 |
121,966,069 (GRCm39) |
start gained |
probably benign |
|
|
R5116:Snrk
|
UTSW |
9 |
121,989,396 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5722:Snrk
|
UTSW |
9 |
121,993,072 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5995:Snrk
|
UTSW |
9 |
121,986,288 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6437:Snrk
|
UTSW |
9 |
121,995,879 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6828:Snrk
|
UTSW |
9 |
121,966,632 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7432:Snrk
|
UTSW |
9 |
121,986,276 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7476:Snrk
|
UTSW |
9 |
121,986,288 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8284:Snrk
|
UTSW |
9 |
121,989,538 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8779:Snrk
|
UTSW |
9 |
121,995,688 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8941:Snrk
|
UTSW |
9 |
121,989,597 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9385:Snrk
|
UTSW |
9 |
121,995,463 (GRCm39) |
missense |
probably benign |
0.27 |
|
R9426:Snrk
|
UTSW |
9 |
121,986,326 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9627:Snrk
|
UTSW |
9 |
121,966,427 (GRCm39) |
nonsense |
probably null |
|
|
R9695:Snrk
|
UTSW |
9 |
121,995,640 (GRCm39) |
missense |
probably benign |
0.43 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGAAGAGATTGAAAGCCACCCTTG -3'
(R):5'- TGACCTGCTACTAGAGCAGACAGAC -3'
Sequencing Primer
(F):5'- AAGCCACCCTTGGCTCC -3'
(R):5'- agcctgcctctacttcttatttac -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation