Incidental Mutation 'R3835:Snrk'
| ID |
275592 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Snrk
|
| Ensembl Gene |
ENSMUSG00000038145 |
| Gene Name |
SNF related kinase |
| Synonyms |
SNRK, 2010012F07Rik |
| MMRRC Submission |
040890-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.733)
|
| Stock # |
R3835 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
121946332-121998768 bp(+) (GRCm39) |
| Type of Mutation |
start gained |
| DNA Base Change (assembly) |
T to C
at 121966069 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117994
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000118886]
[ENSMUST00000119215]
[ENSMUST00000120173]
[ENSMUST00000134949]
[ENSMUST00000139181]
[ENSMUST00000146832]
|
| AlphaFold |
Q8VDU5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000118886
|
| SMART Domains |
Protein: ENSMUSP00000114132
Gene: ENSMUSG00000038145
| 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 |
probably benign
Transcript: ENSMUST00000120173
|
| SMART Domains |
Protein: ENSMUSP00000112919
Gene: ENSMUSG00000038145
| 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: ENSMUST00000134949
|
| SMART Domains |
Protein: ENSMUSP00000119878
Gene: ENSMUSG00000038145
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
16 |
269 |
6.85e-104 |
SMART |
|
Blast:S_TKc
|
361 |
409 |
1e-17 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139181
|
| SMART Domains |
Protein: ENSMUSP00000120582
Gene: ENSMUSG00000038145
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase
|
16 |
90 |
5.4e-15 |
PFAM |
|
Pfam:Pkinase_Tyr
|
16 |
90 |
5.6e-11 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142784
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146832
|
| SMART Domains |
Protein: ENSMUSP00000117994
Gene: ENSMUSG00000038145
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase
|
16 |
54 |
1e-5 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217631
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215432
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
98% (43/44) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl4 |
T |
C |
3: 151,216,254 (GRCm39) |
I479T |
probably damaging |
Het |
| Adh6a |
G |
A |
3: 138,033,275 (GRCm39) |
|
probably null |
Het |
| Anapc7 |
A |
G |
5: 122,581,940 (GRCm39) |
T528A |
possibly damaging |
Het |
| Ap5b1 |
A |
G |
19: 5,618,918 (GRCm39) |
T113A |
possibly damaging |
Het |
| Apaf1 |
G |
A |
10: 90,895,449 (GRCm39) |
R439C |
probably benign |
Het |
| Apoa5 |
A |
T |
9: 46,181,878 (GRCm39) |
H318L |
probably damaging |
Het |
| Bltp2 |
A |
G |
11: 78,169,911 (GRCm39) |
R1545G |
probably benign |
Het |
| Btnl9 |
T |
G |
11: 49,071,512 (GRCm39) |
T104P |
probably damaging |
Het |
| Cimip3 |
AC |
A |
17: 47,744,348 (GRCm39) |
|
probably benign |
Het |
| Dennd5a |
T |
C |
7: 109,533,449 (GRCm39) |
K107R |
probably benign |
Het |
| Dthd1 |
A |
T |
5: 63,007,128 (GRCm39) |
R610W |
probably damaging |
Het |
| Eno1 |
T |
C |
4: 150,331,119 (GRCm39) |
S186P |
probably benign |
Het |
| Gipc2 |
C |
A |
3: 151,833,823 (GRCm39) |
V153F |
probably damaging |
Het |
| Gpt |
A |
G |
15: 76,582,783 (GRCm39) |
Y295C |
probably damaging |
Het |
| Kcnh5 |
T |
A |
12: 74,945,044 (GRCm39) |
Q735L |
probably benign |
Het |
| Lrrc10 |
A |
G |
10: 116,881,691 (GRCm39) |
N122D |
possibly damaging |
Het |
| Lrrc37 |
C |
A |
11: 103,510,836 (GRCm39) |
L377F |
unknown |
Het |
| Meis2 |
T |
C |
2: 115,752,228 (GRCm39) |
H301R |
probably damaging |
Het |
| Muc5b |
A |
T |
7: 141,412,918 (GRCm39) |
I1955F |
unknown |
Het |
| Nalcn |
A |
T |
14: 123,530,834 (GRCm39) |
|
probably benign |
Het |
| Nmt2 |
T |
C |
2: 3,315,723 (GRCm39) |
|
probably benign |
Het |
| Nnt |
C |
T |
13: 119,509,031 (GRCm39) |
G403R |
probably damaging |
Het |
| Or4a79 |
T |
G |
2: 89,551,799 (GRCm39) |
I219L |
possibly damaging |
Het |
| Or4d6 |
T |
A |
19: 12,086,764 (GRCm39) |
I49F |
possibly damaging |
Het |
| Or5b109 |
A |
T |
19: 13,212,103 (GRCm39) |
D163V |
probably benign |
Het |
| Ovgp1 |
A |
G |
3: 105,893,631 (GRCm39) |
E468G |
probably benign |
Het |
| Pax6 |
G |
A |
2: 105,526,795 (GRCm39) |
E234K |
probably benign |
Het |
| Prkdc |
A |
G |
16: 15,609,810 (GRCm39) |
E3138G |
probably damaging |
Het |
| Prmt6 |
T |
C |
3: 110,158,121 (GRCm39) |
D56G |
possibly damaging |
Het |
| Ptprt |
A |
G |
2: 161,389,307 (GRCm39) |
V1261A |
probably damaging |
Het |
| Qtrt2 |
A |
G |
16: 43,701,435 (GRCm39) |
S42P |
probably damaging |
Het |
| Rab9b |
C |
T |
X: 135,762,259 (GRCm39) |
R47Q |
possibly damaging |
Het |
| Rpgrip1 |
A |
G |
14: 52,384,710 (GRCm39) |
E606G |
probably damaging |
Het |
| Setx |
C |
T |
2: 29,035,072 (GRCm39) |
S519L |
possibly damaging |
Het |
| Slc15a2 |
A |
T |
16: 36,592,490 (GRCm39) |
C191* |
probably null |
Het |
| St6galnac1 |
T |
C |
11: 116,657,109 (GRCm39) |
D422G |
probably damaging |
Het |
| Stag1 |
C |
T |
9: 100,620,035 (GRCm39) |
T46I |
probably damaging |
Het |
| Tagln |
T |
C |
9: 45,843,008 (GRCm39) |
I18V |
probably benign |
Het |
| Tasor2 |
T |
C |
13: 3,625,292 (GRCm39) |
T1553A |
probably benign |
Het |
| Tbx18 |
C |
A |
9: 87,611,689 (GRCm39) |
A114S |
probably benign |
Het |
| Ttc16 |
T |
C |
2: 32,659,322 (GRCm39) |
D259G |
probably damaging |
Het |
| Vldlr |
A |
G |
19: 27,212,214 (GRCm39) |
D76G |
probably damaging |
Het |
| Vmn2r24 |
G |
T |
6: 123,764,412 (GRCm39) |
D430Y |
probably benign |
Het |
| Xlr3a |
T |
C |
X: 72,138,644 (GRCm39) |
E5G |
probably damaging |
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 |
|
R1282:Snrk
|
UTSW |
9 |
121,989,586 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
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'- CTGCAACTGACTTAAGGCAC -3'
(R):5'- GTGCTGCACTAGTTTCATGC -3'
Sequencing Primer
(F):5'- GTTGACAATGAAGGCCTT -3'
(R):5'- CCTCACTTCCTGGAAGAGATG -3'
|
| Posted On |
2015-04-06 |
Incidental Mutation