Incidental Mutation 'R0944:Slk'
| ID |
82037 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slk
|
| Ensembl Gene |
ENSMUSG00000025060 |
| Gene Name |
STE20-like kinase |
| Synonyms |
Etk4, Stk2, 9A2, SLK, mSLK |
| MMRRC Submission |
039083-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0944 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
47568458-47633685 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 47597432 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 80
(I80T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000049977
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026043]
[ENSMUST00000051691]
|
| AlphaFold |
O54988 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000026043
AA Change: I80T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000026043
Gene: ENSMUSG00000025060
AA Change: I80T
| 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: I80T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000049977
Gene: ENSMUSG00000025060
AA Change: I80T
| 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 |
0.8318 |
| Coding Region Coverage |
- 1x: 99.7%
- 3x: 99.1%
- 10x: 97.3%
- 20x: 94.3%
|
| Validation Efficiency |
100% (51/51) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3110018I06Rik |
G |
A |
12: 107,455,268 (GRCm39) |
R118K |
unknown |
Het |
| Abcc6 |
T |
A |
7: 45,664,929 (GRCm39) |
I301F |
possibly damaging |
Het |
| Akap9 |
C |
A |
5: 4,114,742 (GRCm39) |
|
probably null |
Het |
| Alg6 |
A |
G |
4: 99,650,297 (GRCm39) |
I506V |
probably benign |
Het |
| B3gat1 |
C |
T |
9: 26,668,237 (GRCm39) |
R276C |
probably damaging |
Het |
| Camk1 |
A |
G |
6: 113,315,352 (GRCm39) |
Y105H |
probably damaging |
Het |
| Ccdc81 |
T |
C |
7: 89,515,777 (GRCm39) |
N634S |
probably damaging |
Het |
| Clcn1 |
C |
A |
6: 42,290,075 (GRCm39) |
Q837K |
probably benign |
Het |
| Clec16a |
A |
G |
16: 10,506,510 (GRCm39) |
|
probably benign |
Het |
| Col22a1 |
T |
C |
15: 71,753,511 (GRCm39) |
I130V |
probably benign |
Het |
| Coro2b |
T |
C |
9: 62,335,263 (GRCm39) |
S308G |
probably benign |
Het |
| Cpxm1 |
A |
G |
2: 130,239,423 (GRCm39) |
W2R |
probably damaging |
Het |
| Csmd3 |
T |
C |
15: 47,475,227 (GRCm39) |
N3364S |
probably damaging |
Het |
| Dgkq |
A |
G |
5: 108,804,331 (GRCm39) |
V131A |
probably damaging |
Het |
| Dnai1 |
A |
G |
4: 41,629,997 (GRCm39) |
S469G |
probably benign |
Het |
| Efcab3 |
T |
G |
11: 104,601,556 (GRCm39) |
|
probably null |
Het |
| Eml4 |
G |
A |
17: 83,785,489 (GRCm39) |
E885K |
probably benign |
Het |
| Etfa |
A |
T |
9: 55,396,122 (GRCm39) |
I148N |
probably damaging |
Het |
| Gpbar1 |
A |
G |
1: 74,318,681 (GRCm39) |
D308G |
probably benign |
Het |
| Gprin3 |
T |
C |
6: 59,330,900 (GRCm39) |
E469G |
possibly damaging |
Het |
| Igkv1-115 |
T |
C |
6: 68,138,667 (GRCm39) |
V90A |
probably damaging |
Het |
| Ints2 |
A |
G |
11: 86,135,289 (GRCm39) |
V375A |
possibly damaging |
Het |
| Mindy3 |
T |
C |
2: 12,400,993 (GRCm39) |
M242V |
possibly damaging |
Het |
| Or11m3 |
A |
G |
15: 98,395,565 (GRCm39) |
I71V |
probably benign |
Het |
| Or1n1b |
T |
C |
2: 36,780,698 (GRCm39) |
H54R |
probably damaging |
Het |
| Or5t9 |
A |
C |
2: 86,659,281 (GRCm39) |
I62L |
probably benign |
Het |
| P3h1 |
G |
A |
4: 119,095,956 (GRCm39) |
E355K |
probably benign |
Het |
| Paxbp1 |
T |
C |
16: 90,820,315 (GRCm39) |
T703A |
probably benign |
Het |
| Pcdh15 |
A |
T |
10: 74,046,302 (GRCm39) |
Y193F |
probably damaging |
Het |
| Pdxdc1 |
A |
G |
16: 13,656,233 (GRCm39) |
V613A |
probably damaging |
Het |
| Plekha5 |
T |
C |
6: 140,515,922 (GRCm39) |
|
probably benign |
Het |
| Pmel |
A |
T |
10: 128,551,126 (GRCm39) |
Q123L |
possibly damaging |
Het |
| Prl6a1 |
T |
C |
13: 27,502,149 (GRCm39) |
|
probably benign |
Het |
| Rcan1 |
T |
C |
16: 92,190,379 (GRCm39) |
T187A |
probably damaging |
Het |
| Rp1l1 |
A |
G |
14: 64,269,681 (GRCm39) |
S1756G |
probably benign |
Het |
| Runx2 |
A |
T |
17: 44,919,123 (GRCm39) |
M405K |
probably damaging |
Het |
| Serinc5 |
T |
C |
13: 92,797,613 (GRCm39) |
Y39H |
probably damaging |
Het |
| Sgsm1 |
G |
A |
5: 113,413,740 (GRCm39) |
T676I |
probably benign |
Het |
| Slc6a15 |
G |
C |
10: 103,245,657 (GRCm39) |
V547L |
probably benign |
Het |
| Spice1 |
A |
G |
16: 44,205,124 (GRCm39) |
N810S |
probably benign |
Het |
| Spred2 |
A |
G |
11: 19,951,104 (GRCm39) |
|
probably benign |
Het |
| Tbc1d4 |
C |
G |
14: 101,716,656 (GRCm39) |
|
probably benign |
Het |
| Tdrd7 |
G |
A |
4: 46,029,762 (GRCm39) |
V1032M |
probably benign |
Het |
| Tlr11 |
A |
G |
14: 50,599,793 (GRCm39) |
N593S |
probably benign |
Het |
| Trpa1 |
T |
C |
1: 14,982,585 (GRCm39) |
|
probably null |
Het |
| Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
| Usp25 |
T |
C |
16: 76,878,335 (GRCm39) |
|
probably benign |
Het |
| Vmn2r97 |
T |
A |
17: 19,167,665 (GRCm39) |
S640T |
probably benign |
Het |
| Zc3h6 |
A |
G |
2: 128,848,736 (GRCm39) |
Y321C |
probably damaging |
Het |
| Zfp329 |
T |
A |
7: 12,545,395 (GRCm39) |
N43I |
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 |
|
|
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 |
|
R2278:Slk
|
UTSW |
19 |
47,608,188 (GRCm39) |
missense |
probably damaging |
0.97 |
|
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'- TGTAGGCTCATTGGCAAATGTCCC -3'
(R):5'- TGACTCTCACTGGCAGATCAACCC -3'
Sequencing Primer
(F):5'- aaatgtcccagcctggtg -3'
(R):5'- TGGCAGATCAACCCTCAATC -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation