Incidental Mutation 'R4471:Slk'
| ID |
329467 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slk
|
| Ensembl Gene |
ENSMUSG00000025060 |
| Gene Name |
STE20-like kinase |
| Synonyms |
9A2, Stk2, mSLK, Etk4, SLK |
| MMRRC Submission |
041728-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4471 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
47579678-47645246 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 47615423 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glycine
at position 202
(V202G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026043
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026043]
[ENSMUST00000051691]
|
| AlphaFold |
O54988 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000026043
AA Change: V202G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000026043
Gene: ENSMUSG00000025060
AA Change: V202G
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
34 |
292 |
3.18e-99 |
SMART |
|
low complexity region
|
305 |
328 |
N/A |
INTRINSIC |
|
low complexity region
|
442 |
452 |
N/A |
INTRINSIC |
|
low complexity region
|
585 |
600 |
N/A |
INTRINSIC |
|
low complexity region
|
690 |
703 |
N/A |
INTRINSIC |
|
low complexity region
|
783 |
795 |
N/A |
INTRINSIC |
|
Pfam:PKK
|
849 |
928 |
1.2e-19 |
PFAM |
|
Pfam:PKK
|
986 |
1127 |
7.4e-49 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000051691
AA Change: V202G
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000049977
Gene: ENSMUSG00000025060
AA Change: V202G
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
34 |
292 |
3.18e-99 |
SMART |
|
low complexity region
|
305 |
328 |
N/A |
INTRINSIC |
|
low complexity region
|
442 |
452 |
N/A |
INTRINSIC |
|
low complexity region
|
585 |
600 |
N/A |
INTRINSIC |
|
low complexity region
|
690 |
703 |
N/A |
INTRINSIC |
|
low complexity region
|
783 |
795 |
N/A |
INTRINSIC |
|
Pfam:PKK
|
850 |
988 |
1.6e-40 |
PFAM |
|
Pfam:PKK
|
1018 |
1158 |
1.2e-42 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136557
|
| Meta Mutation Damage Score |
0.8267 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
99% (69/70) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a gene trapped allele die by E14.5, exhibiting severe developmental defects, impaired neuronal and skeletal muscle development, abnormal placental differentiation and vascularization, and increased apoptosis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930452B06Rik |
A |
G |
14: 8,536,571 (GRCm38) |
L212P |
probably damaging |
Het |
| AF067061 |
G |
T |
13: 120,264,043 (GRCm38) |
R81L |
probably benign |
Het |
| Alpk1 |
A |
G |
3: 127,679,526 (GRCm38) |
S943P |
probably damaging |
Het |
| Ankdd1a |
T |
C |
9: 65,503,509 (GRCm38) |
D398G |
probably damaging |
Het |
| Ankrd13b |
T |
A |
11: 77,476,214 (GRCm38) |
K49M |
probably damaging |
Het |
| Asah1 |
A |
G |
8: 41,343,724 (GRCm38) |
|
probably null |
Het |
| Cdc34b |
A |
G |
11: 94,742,238 (GRCm38) |
E88G |
probably benign |
Het |
| Cdh2 |
T |
C |
18: 16,774,476 (GRCm38) |
|
probably null |
Het |
| Ceacam1 |
T |
A |
7: 25,474,600 (GRCm38) |
N210I |
possibly damaging |
Het |
| Celf3 |
A |
G |
3: 94,488,278 (GRCm38) |
|
probably null |
Het |
| Cmya5 |
A |
T |
13: 93,092,325 (GRCm38) |
M2085K |
probably benign |
Het |
| Cpne6 |
G |
A |
14: 55,516,632 (GRCm38) |
V469M |
probably damaging |
Het |
| Cyp2j12 |
A |
G |
4: 96,133,069 (GRCm38) |
V100A |
probably benign |
Het |
| Diexf |
C |
T |
1: 193,130,137 (GRCm38) |
R5Q |
possibly damaging |
Het |
| Dnajb4 |
A |
T |
3: 152,185,162 (GRCm38) |
H333Q |
probably benign |
Het |
| Eif3f |
T |
C |
7: 108,940,946 (GRCm38) |
V316A |
possibly damaging |
Het |
| Eml1 |
T |
C |
12: 108,506,635 (GRCm38) |
|
probably benign |
Het |
| Ern1 |
C |
A |
11: 106,420,042 (GRCm38) |
V302L |
possibly damaging |
Het |
| Fam110b |
A |
T |
4: 5,799,092 (GRCm38) |
H170L |
probably benign |
Het |
| Fn3krp |
T |
G |
11: 121,426,673 (GRCm38) |
D146E |
probably benign |
Het |
| Git1 |
A |
G |
11: 77,499,824 (GRCm38) |
T129A |
probably benign |
Het |
| Glrp1 |
T |
A |
1: 88,503,474 (GRCm38) |
Q58L |
unknown |
Het |
| Gpatch2 |
A |
G |
1: 187,233,140 (GRCm38) |
E281G |
probably damaging |
Het |
| Hipk2 |
T |
A |
6: 38,736,922 (GRCm38) |
|
probably benign |
Het |
| Hydin |
A |
G |
8: 110,587,132 (GRCm38) |
N4214S |
probably damaging |
Het |
| Icam5 |
T |
A |
9: 21,035,506 (GRCm38) |
C443* |
probably null |
Het |
| Impdh1 |
G |
A |
6: 29,204,632 (GRCm38) |
Q307* |
probably null |
Het |
| Ivns1abp |
C |
T |
1: 151,361,239 (GRCm38) |
T447M |
probably benign |
Het |
| Lman1 |
A |
T |
18: 65,991,726 (GRCm38) |
|
probably benign |
Het |
| Mdn1 |
A |
G |
4: 32,668,860 (GRCm38) |
E306G |
probably benign |
Het |
| Msc |
G |
C |
1: 14,755,678 (GRCm38) |
P24R |
probably damaging |
Het |
| Mtif2 |
T |
C |
11: 29,540,053 (GRCm38) |
|
probably benign |
Het |
| Mvp |
C |
T |
7: 127,001,958 (GRCm38) |
M1I |
probably null |
Het |
| Myh7 |
A |
T |
14: 54,991,854 (GRCm38) |
Y162* |
probably null |
Het |
| Nemf |
G |
A |
12: 69,314,442 (GRCm38) |
H956Y |
probably benign |
Het |
| Nktr |
T |
C |
9: 121,748,896 (GRCm38) |
|
probably benign |
Het |
| Nrxn3 |
T |
C |
12: 90,204,741 (GRCm38) |
S276P |
probably damaging |
Het |
| Olfr26 |
T |
C |
9: 38,855,631 (GRCm38) |
S190P |
probably damaging |
Het |
| Patj |
A |
G |
4: 98,535,579 (GRCm38) |
K621E |
probably damaging |
Het |
| Prss2 |
A |
G |
6: 41,522,846 (GRCm38) |
I24V |
probably damaging |
Het |
| R3hcc1l |
T |
C |
19: 42,582,820 (GRCm38) |
|
probably benign |
Het |
| Rest |
T |
C |
5: 77,281,180 (GRCm38) |
V482A |
probably benign |
Het |
| Rexo1 |
A |
T |
10: 80,542,658 (GRCm38) |
S476T |
probably damaging |
Het |
| Rin2 |
C |
T |
2: 145,860,446 (GRCm38) |
T354I |
probably benign |
Het |
| Slc16a3 |
T |
C |
11: 120,955,948 (GRCm38) |
|
probably benign |
Het |
| Slc5a4b |
G |
A |
10: 76,058,891 (GRCm38) |
Q594* |
probably null |
Het |
| Smarca2 |
T |
A |
19: 26,619,877 (GRCm38) |
V53D |
possibly damaging |
Het |
| Snrnp200 |
T |
A |
2: 127,238,753 (GRCm38) |
V2036E |
probably benign |
Het |
| Sox5 |
A |
G |
6: 143,844,765 (GRCm38) |
M523T |
possibly damaging |
Het |
| Syt17 |
A |
G |
7: 118,436,817 (GRCm38) |
|
probably null |
Het |
| Taf2 |
T |
C |
15: 55,058,880 (GRCm38) |
D337G |
possibly damaging |
Het |
| Tecrl |
A |
G |
5: 83,313,287 (GRCm38) |
Y108H |
probably benign |
Het |
| Tln1 |
A |
T |
4: 43,551,018 (GRCm38) |
F409L |
probably benign |
Het |
| Tmem59l |
A |
G |
8: 70,487,301 (GRCm38) |
L6S |
unknown |
Het |
| Ttc23 |
G |
A |
7: 67,670,156 (GRCm38) |
R187Q |
probably benign |
Het |
| Ttl |
T |
C |
2: 129,082,057 (GRCm38) |
V230A |
probably benign |
Het |
| Ube2u |
G |
A |
4: 100,481,646 (GRCm38) |
W36* |
probably null |
Het |
| Ube4a |
A |
T |
9: 44,946,532 (GRCm38) |
|
probably benign |
Het |
| Ulk1 |
C |
T |
5: 110,789,357 (GRCm38) |
R691Q |
probably benign |
Het |
| Unc45a |
A |
G |
7: 80,332,980 (GRCm38) |
I399T |
possibly damaging |
Het |
| Wdr59 |
A |
C |
8: 111,466,787 (GRCm38) |
|
probably null |
Het |
| Zfp24 |
A |
G |
18: 24,018,115 (GRCm38) |
|
probably benign |
Het |
| Zfp777 |
A |
T |
6: 48,042,107 (GRCm38) |
W342R |
probably damaging |
Het |
| Zfp979 |
A |
T |
4: 147,613,456 (GRCm38) |
C265* |
probably null |
Het |
| Zzef1 |
T |
A |
11: 72,913,331 (GRCm38) |
L2633Q |
probably damaging |
Het |
|
| Other mutations in Slk |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00488:Slk
|
APN |
19 |
47,619,709 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL00515:Slk
|
APN |
19 |
47,642,096 (GRCm38) |
unclassified |
probably benign |
|
|
IGL00755:Slk
|
APN |
19 |
47,609,010 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL00990:Slk
|
APN |
19 |
47,580,252 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL02283:Slk
|
APN |
19 |
47,641,993 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0140:Slk
|
UTSW |
19 |
47,622,335 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0364:Slk
|
UTSW |
19 |
47,620,189 (GRCm38) |
nonsense |
probably null |
|
|
R0944:Slk
|
UTSW |
19 |
47,608,993 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1756:Slk
|
UTSW |
19 |
47,622,677 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R1795:Slk
|
UTSW |
19 |
47,620,534 (GRCm38) |
missense |
possibly damaging |
0.72 |
|
R1869:Slk
|
UTSW |
19 |
47,625,452 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1980:Slk
|
UTSW |
19 |
47,611,989 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2261:Slk
|
UTSW |
19 |
47,637,352 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2278:Slk
|
UTSW |
19 |
47,619,749 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R3746:Slk
|
UTSW |
19 |
47,619,809 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R3748:Slk
|
UTSW |
19 |
47,619,809 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R3749:Slk
|
UTSW |
19 |
47,619,809 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R3750:Slk
|
UTSW |
19 |
47,619,809 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R4024:Slk
|
UTSW |
19 |
47,622,370 (GRCm38) |
splice site |
probably null |
|
|
R4647:Slk
|
UTSW |
19 |
47,620,274 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
R4825:Slk
|
UTSW |
19 |
47,619,956 (GRCm38) |
missense |
probably benign |
|
|
R5205:Slk
|
UTSW |
19 |
47,625,460 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R5228:Slk
|
UTSW |
19 |
47,625,332 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5372:Slk
|
UTSW |
19 |
47,625,393 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5665:Slk
|
UTSW |
19 |
47,636,457 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5688:Slk
|
UTSW |
19 |
47,620,012 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5859:Slk
|
UTSW |
19 |
47,609,042 (GRCm38) |
missense |
probably benign |
0.37 |
|
R6279:Slk
|
UTSW |
19 |
47,642,004 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6368:Slk
|
UTSW |
19 |
47,620,183 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R6431:Slk
|
UTSW |
19 |
47,620,888 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6563:Slk
|
UTSW |
19 |
47,636,469 (GRCm38) |
critical splice donor site |
probably null |
|
|
R6705:Slk
|
UTSW |
19 |
47,609,059 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6790:Slk
|
UTSW |
19 |
47,635,568 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R7495:Slk
|
UTSW |
19 |
47,638,978 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7598:Slk
|
UTSW |
19 |
47,636,462 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7728:Slk
|
UTSW |
19 |
47,620,816 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7850:Slk
|
UTSW |
19 |
47,622,357 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7860:Slk
|
UTSW |
19 |
47,642,071 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
R7911:Slk
|
UTSW |
19 |
47,615,229 (GRCm38) |
missense |
|
|
|
R8000:Slk
|
UTSW |
19 |
47,608,905 (GRCm38) |
missense |
|
|
|
R8847:Slk
|
UTSW |
19 |
47,619,193 (GRCm38) |
missense |
|
|
|
R8944:Slk
|
UTSW |
19 |
47,611,618 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8962:Slk
|
UTSW |
19 |
47,622,309 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8988:Slk
|
UTSW |
19 |
47,620,273 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9028:Slk
|
UTSW |
19 |
47,620,073 (GRCm38) |
missense |
probably benign |
|
|
R9093:Slk
|
UTSW |
19 |
47,615,444 (GRCm38) |
missense |
|
|
|
R9747:Slk
|
UTSW |
19 |
47,619,907 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
X0052:Slk
|
UTSW |
19 |
47,620,933 (GRCm38) |
missense |
probably benign |
0.05 |
|
Z1176:Slk
|
UTSW |
19 |
47,622,276 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCGGATTTTGGAGTATCAGC -3'
(R):5'- ACCATTTTGATGGCTGTGCTAATG -3'
Sequencing Primer
(F):5'- GAGGGATTCATTTATTGGCACACC -3'
(R):5'- CTAATGTTGGGGGCTCAGATTTTGC -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation