Incidental Mutation 'R2278:Slk'
ID |
242939 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slk
|
Ensembl Gene |
ENSMUSG00000025060 |
Gene Name |
STE20-like kinase |
Synonyms |
Etk4, Stk2, 9A2, SLK, mSLK |
MMRRC Submission |
040277-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R2278 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
19 |
Chromosomal Location |
47568458-47633685 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 47608188 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Methionine
at position 380
(I380M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000049977
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026043]
[ENSMUST00000051691]
|
AlphaFold |
O54988 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000026043
AA Change: I380M
PolyPhen 2
Score 0.284 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000026043 Gene: ENSMUSG00000025060 AA Change: I380M
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: I380M
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000049977 Gene: ENSMUSG00000025060 AA Change: I380M
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: ENSMUST00000123816
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130115
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136557
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.0%
|
Validation Efficiency |
|
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam3 |
T |
C |
8: 25,201,400 (GRCm39) |
D251G |
probably damaging |
Het |
Aqp3 |
T |
C |
4: 41,093,836 (GRCm39) |
D219G |
probably damaging |
Het |
Arhgef15 |
C |
A |
11: 68,842,517 (GRCm39) |
W404C |
probably damaging |
Het |
Bdp1 |
T |
A |
13: 100,197,847 (GRCm39) |
E846V |
probably damaging |
Het |
Bdp1 |
C |
A |
13: 100,197,838 (GRCm39) |
S849I |
probably benign |
Het |
Bmp5 |
T |
A |
9: 75,683,830 (GRCm39) |
N152K |
possibly damaging |
Het |
Bpifb2 |
C |
T |
2: 153,720,399 (GRCm39) |
Q53* |
probably null |
Het |
Cep250 |
G |
A |
2: 155,834,552 (GRCm39) |
R2159K |
probably damaging |
Het |
Chd9 |
C |
T |
8: 91,760,615 (GRCm39) |
P2120L |
probably benign |
Het |
Clca3a1 |
A |
G |
3: 144,463,785 (GRCm39) |
V164A |
probably damaging |
Het |
Dnajc28 |
G |
A |
16: 91,413,755 (GRCm39) |
T187M |
probably damaging |
Het |
Gcn1 |
T |
C |
5: 115,749,234 (GRCm39) |
I1922T |
probably damaging |
Het |
Gnpat |
A |
G |
8: 125,603,659 (GRCm39) |
D179G |
probably benign |
Het |
Hook1 |
A |
G |
4: 95,886,957 (GRCm39) |
Q188R |
probably benign |
Het |
Hsf4 |
G |
A |
8: 105,996,628 (GRCm39) |
D18N |
probably null |
Het |
Ifi44 |
T |
C |
3: 151,438,025 (GRCm39) |
N421D |
probably benign |
Het |
Igdcc4 |
C |
T |
9: 65,038,025 (GRCm39) |
T801I |
probably damaging |
Het |
Itgad |
T |
C |
7: 127,804,342 (GRCm39) |
S107P |
possibly damaging |
Het |
Kank2 |
C |
A |
9: 21,681,080 (GRCm39) |
M816I |
probably damaging |
Het |
Kcnk18 |
T |
C |
19: 59,223,926 (GRCm39) |
I357T |
probably damaging |
Het |
Kcnma1 |
T |
A |
14: 23,593,151 (GRCm39) |
R120* |
probably null |
Het |
Lgi4 |
T |
G |
7: 30,760,037 (GRCm39) |
L78V |
probably damaging |
Het |
Lypla1 |
T |
G |
1: 4,911,321 (GRCm39) |
|
probably null |
Het |
Mknk1 |
C |
T |
4: 115,732,690 (GRCm39) |
A306V |
probably damaging |
Het |
Ncoa6 |
A |
T |
2: 155,249,570 (GRCm39) |
S1245T |
possibly damaging |
Het |
Npas3 |
T |
A |
12: 53,687,285 (GRCm39) |
V122E |
possibly damaging |
Het |
Nrxn2 |
G |
C |
19: 6,531,883 (GRCm39) |
Q789H |
probably damaging |
Het |
Or2h1b |
A |
T |
17: 37,462,145 (GRCm39) |
C239* |
probably null |
Het |
Or3a1 |
T |
C |
11: 74,225,991 (GRCm39) |
E22G |
probably benign |
Het |
Or5p69 |
T |
C |
7: 107,967,288 (GRCm39) |
V197A |
probably benign |
Het |
Or5w12 |
A |
G |
2: 87,502,289 (GRCm39) |
C141R |
possibly damaging |
Het |
Otog |
G |
A |
7: 45,949,468 (GRCm39) |
V2369M |
probably damaging |
Het |
Pfkp |
T |
C |
13: 6,669,245 (GRCm39) |
|
probably null |
Het |
Pja2 |
T |
C |
17: 64,599,865 (GRCm39) |
S478G |
probably damaging |
Het |
Prune2 |
A |
G |
19: 17,095,919 (GRCm39) |
I474M |
possibly damaging |
Het |
Psg22 |
C |
A |
7: 18,460,762 (GRCm39) |
Q464K |
possibly damaging |
Het |
Rp1 |
C |
T |
1: 4,418,250 (GRCm39) |
S954N |
possibly damaging |
Het |
Rps27l |
T |
A |
9: 66,854,208 (GRCm39) |
D34E |
probably benign |
Het |
Sae1 |
A |
C |
7: 16,104,291 (GRCm39) |
L106R |
probably damaging |
Het |
Siglec1 |
T |
A |
2: 130,913,257 (GRCm39) |
Q1553L |
probably benign |
Het |
Slc11a2 |
A |
G |
15: 100,307,962 (GRCm39) |
|
probably null |
Het |
Slc14a2 |
A |
T |
18: 78,203,159 (GRCm39) |
M556K |
probably benign |
Het |
Spink5 |
A |
G |
18: 44,119,396 (GRCm39) |
N236D |
probably benign |
Het |
Syne2 |
A |
G |
12: 75,974,240 (GRCm39) |
E1146G |
possibly damaging |
Het |
Tiam2 |
G |
A |
17: 3,477,495 (GRCm39) |
V573M |
probably damaging |
Het |
Tmem170 |
C |
A |
8: 112,596,349 (GRCm39) |
V59L |
probably benign |
Het |
Tmem255b |
C |
T |
8: 13,501,081 (GRCm39) |
A106V |
probably damaging |
Het |
Ttc23l |
A |
G |
15: 10,523,678 (GRCm39) |
I347T |
possibly damaging |
Het |
Vps13c |
A |
G |
9: 67,846,354 (GRCm39) |
M2141V |
probably benign |
Het |
Vwa5a |
T |
C |
9: 38,634,503 (GRCm39) |
Y143H |
probably damaging |
Het |
Zfp280d |
T |
A |
9: 72,246,055 (GRCm39) |
C707* |
probably null |
Het |
Zfp668 |
A |
T |
7: 127,465,998 (GRCm39) |
N395K |
probably benign |
Het |
Znhit6 |
G |
T |
3: 145,281,991 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Slk |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00488:Slk
|
APN |
19 |
47,608,148 (GRCm39) |
missense |
probably benign |
0.00 |
IGL00515:Slk
|
APN |
19 |
47,630,535 (GRCm39) |
unclassified |
probably benign |
|
IGL00755:Slk
|
APN |
19 |
47,597,449 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL00990:Slk
|
APN |
19 |
47,568,691 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02283:Slk
|
APN |
19 |
47,630,432 (GRCm39) |
missense |
probably damaging |
1.00 |
R0140:Slk
|
UTSW |
19 |
47,610,774 (GRCm39) |
missense |
probably damaging |
1.00 |
R0364:Slk
|
UTSW |
19 |
47,608,628 (GRCm39) |
nonsense |
probably null |
|
R0944:Slk
|
UTSW |
19 |
47,597,432 (GRCm39) |
missense |
probably damaging |
1.00 |
R1756:Slk
|
UTSW |
19 |
47,611,116 (GRCm39) |
missense |
probably damaging |
0.97 |
R1795:Slk
|
UTSW |
19 |
47,608,973 (GRCm39) |
missense |
possibly damaging |
0.72 |
R1869:Slk
|
UTSW |
19 |
47,613,891 (GRCm39) |
missense |
probably damaging |
1.00 |
R1980:Slk
|
UTSW |
19 |
47,600,428 (GRCm39) |
missense |
probably damaging |
1.00 |
R2261:Slk
|
UTSW |
19 |
47,625,791 (GRCm39) |
missense |
probably damaging |
0.99 |
R3746:Slk
|
UTSW |
19 |
47,608,248 (GRCm39) |
missense |
possibly damaging |
0.88 |
R3748:Slk
|
UTSW |
19 |
47,608,248 (GRCm39) |
missense |
possibly damaging |
0.88 |
R3749:Slk
|
UTSW |
19 |
47,608,248 (GRCm39) |
missense |
possibly damaging |
0.88 |
R3750:Slk
|
UTSW |
19 |
47,608,248 (GRCm39) |
missense |
possibly damaging |
0.88 |
R4024:Slk
|
UTSW |
19 |
47,610,809 (GRCm39) |
splice site |
probably null |
|
R4471:Slk
|
UTSW |
19 |
47,603,862 (GRCm39) |
missense |
probably damaging |
1.00 |
R4647:Slk
|
UTSW |
19 |
47,608,713 (GRCm39) |
missense |
possibly damaging |
0.71 |
R4825:Slk
|
UTSW |
19 |
47,608,395 (GRCm39) |
missense |
probably benign |
|
R5205:Slk
|
UTSW |
19 |
47,613,899 (GRCm39) |
missense |
possibly damaging |
0.91 |
R5228:Slk
|
UTSW |
19 |
47,613,771 (GRCm39) |
missense |
probably damaging |
1.00 |
R5372:Slk
|
UTSW |
19 |
47,613,832 (GRCm39) |
missense |
probably damaging |
1.00 |
R5665:Slk
|
UTSW |
19 |
47,624,896 (GRCm39) |
missense |
probably damaging |
1.00 |
R5688:Slk
|
UTSW |
19 |
47,608,451 (GRCm39) |
missense |
probably benign |
0.00 |
R5859:Slk
|
UTSW |
19 |
47,597,481 (GRCm39) |
missense |
probably benign |
0.37 |
R6279:Slk
|
UTSW |
19 |
47,630,443 (GRCm39) |
missense |
probably damaging |
1.00 |
R6368:Slk
|
UTSW |
19 |
47,608,622 (GRCm39) |
missense |
possibly damaging |
0.85 |
R6431:Slk
|
UTSW |
19 |
47,609,327 (GRCm39) |
missense |
probably damaging |
1.00 |
R6563:Slk
|
UTSW |
19 |
47,624,908 (GRCm39) |
critical splice donor site |
probably null |
|
R6705:Slk
|
UTSW |
19 |
47,597,498 (GRCm39) |
missense |
probably benign |
0.01 |
R6790:Slk
|
UTSW |
19 |
47,624,007 (GRCm39) |
missense |
probably damaging |
0.96 |
R7495:Slk
|
UTSW |
19 |
47,627,417 (GRCm39) |
missense |
probably damaging |
1.00 |
R7598:Slk
|
UTSW |
19 |
47,624,901 (GRCm39) |
missense |
probably damaging |
1.00 |
R7728:Slk
|
UTSW |
19 |
47,609,255 (GRCm39) |
missense |
probably damaging |
1.00 |
R7850:Slk
|
UTSW |
19 |
47,610,796 (GRCm39) |
missense |
probably damaging |
1.00 |
R7860:Slk
|
UTSW |
19 |
47,630,510 (GRCm39) |
missense |
possibly damaging |
0.65 |
R7911:Slk
|
UTSW |
19 |
47,603,668 (GRCm39) |
missense |
|
|
R8000:Slk
|
UTSW |
19 |
47,597,344 (GRCm39) |
missense |
|
|
R8847:Slk
|
UTSW |
19 |
47,607,632 (GRCm39) |
missense |
|
|
R8944:Slk
|
UTSW |
19 |
47,600,057 (GRCm39) |
missense |
probably damaging |
0.99 |
R8962:Slk
|
UTSW |
19 |
47,610,748 (GRCm39) |
missense |
probably damaging |
1.00 |
R8988:Slk
|
UTSW |
19 |
47,608,712 (GRCm39) |
missense |
probably benign |
0.00 |
R9028:Slk
|
UTSW |
19 |
47,608,512 (GRCm39) |
missense |
probably benign |
|
R9093:Slk
|
UTSW |
19 |
47,603,883 (GRCm39) |
missense |
|
|
R9747:Slk
|
UTSW |
19 |
47,608,346 (GRCm39) |
missense |
possibly damaging |
0.71 |
X0052:Slk
|
UTSW |
19 |
47,609,372 (GRCm39) |
missense |
probably benign |
0.05 |
Z1176:Slk
|
UTSW |
19 |
47,610,715 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TTTGGATGACTGTCTTGAGCTCAAC -3'
(R):5'- TGAATTAACATCCACAGTTTGCTGG -3'
Sequencing Primer
(F):5'- GACTGTCTTGAGCTCAACATTTTTG -3'
(R):5'- AACATCCACAGTTTGCTGGTCTTG -3'
|
Posted On |
2014-10-16 |