Incidental Mutation 'R5859:Slk'
ID |
455094 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slk
|
Ensembl Gene |
ENSMUSG00000025060 |
Gene Name |
STE20-like kinase |
Synonyms |
Etk4, Stk2, 9A2, SLK, mSLK |
MMRRC Submission |
044071-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5859 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
47568458-47633685 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 47597481 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 96
(D96E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000026043
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026043]
[ENSMUST00000051691]
|
AlphaFold |
O54988 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000026043
AA Change: D96E
PolyPhen 2
Score 0.371 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000026043 Gene: ENSMUSG00000025060 AA Change: D96E
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 benign
Transcript: ENSMUST00000051691
AA Change: D96E
PolyPhen 2
Score 0.243 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000049977 Gene: ENSMUSG00000025060 AA Change: D96E
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 |
0.1513 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.4%
- 20x: 91.9%
|
Validation Efficiency |
93% (70/75) |
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: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam5 |
A |
T |
8: 25,303,477 (GRCm39) |
V150E |
probably benign |
Het |
Alg11 |
A |
G |
8: 22,555,857 (GRCm39) |
K373E |
probably benign |
Het |
Arl14ep |
C |
T |
2: 106,799,398 (GRCm39) |
|
probably benign |
Het |
Ascc2 |
G |
A |
11: 4,608,284 (GRCm39) |
G227R |
probably benign |
Het |
Ash1l |
C |
T |
3: 88,976,300 (GRCm39) |
P2627S |
probably damaging |
Het |
Btla |
T |
G |
16: 45,059,402 (GRCm39) |
|
probably null |
Het |
Btnl10 |
C |
T |
11: 58,813,138 (GRCm39) |
P256S |
probably benign |
Het |
Cep162 |
C |
T |
9: 87,086,145 (GRCm39) |
A1060T |
probably damaging |
Het |
Cfap54 |
T |
A |
10: 92,852,386 (GRCm39) |
K907* |
probably null |
Het |
Chpf |
A |
T |
1: 75,452,072 (GRCm39) |
F461I |
probably damaging |
Het |
Chrdl2 |
A |
G |
7: 99,670,114 (GRCm39) |
Y79C |
probably damaging |
Het |
Copb2 |
G |
A |
9: 98,450,161 (GRCm39) |
C40Y |
probably benign |
Het |
Cyfip1 |
T |
C |
7: 55,574,929 (GRCm39) |
L1060P |
probably damaging |
Het |
Drg1 |
G |
A |
11: 3,209,273 (GRCm39) |
|
probably benign |
Het |
Erich3 |
A |
G |
3: 154,468,134 (GRCm39) |
D862G |
possibly damaging |
Het |
Flii |
G |
T |
11: 60,607,137 (GRCm39) |
Y946* |
probably null |
Het |
Glt8d2 |
T |
C |
10: 82,507,915 (GRCm39) |
M1V |
probably null |
Het |
Gm21136 |
T |
A |
7: 38,567,165 (GRCm39) |
|
noncoding transcript |
Het |
Gramd1c |
T |
C |
16: 43,812,454 (GRCm39) |
T393A |
possibly damaging |
Het |
Gucy2d |
T |
A |
7: 98,101,090 (GRCm39) |
I471N |
probably benign |
Het |
Hps3 |
G |
A |
3: 20,063,034 (GRCm39) |
T711M |
probably benign |
Het |
Hs3st4 |
A |
T |
7: 123,582,831 (GRCm39) |
D143V |
probably benign |
Het |
Kif17 |
T |
A |
4: 138,018,744 (GRCm39) |
M461K |
possibly damaging |
Het |
Klhdc7a |
T |
A |
4: 139,694,885 (GRCm39) |
S21C |
probably damaging |
Het |
Klk15 |
G |
A |
7: 43,587,800 (GRCm39) |
R76H |
probably benign |
Het |
Lnpk |
G |
A |
2: 74,399,372 (GRCm39) |
T57I |
possibly damaging |
Het |
Ltbp2 |
A |
G |
12: 84,840,837 (GRCm39) |
V999A |
possibly damaging |
Het |
Ltbr |
T |
C |
6: 125,289,771 (GRCm39) |
H141R |
probably damaging |
Het |
Lvrn |
T |
C |
18: 47,026,816 (GRCm39) |
F805L |
probably damaging |
Het |
Ms4a13 |
A |
T |
19: 11,161,280 (GRCm39) |
C86* |
probably null |
Het |
Ncbp1 |
A |
G |
4: 46,163,026 (GRCm39) |
N480S |
probably benign |
Het |
Nelfcd |
T |
G |
2: 174,268,856 (GRCm39) |
*592G |
probably null |
Het |
Neurog2 |
T |
C |
3: 127,427,664 (GRCm39) |
V96A |
probably benign |
Het |
Nod1 |
A |
T |
6: 54,907,162 (GRCm39) |
W902R |
probably benign |
Het |
Or12d13 |
T |
C |
17: 37,647,260 (GRCm39) |
I288V |
possibly damaging |
Het |
Or4k15c |
T |
A |
14: 50,321,484 (GRCm39) |
Y218F |
probably damaging |
Het |
Or55b3 |
T |
C |
7: 102,126,957 (GRCm39) |
Y40C |
possibly damaging |
Het |
Or6d13 |
T |
C |
6: 116,517,861 (GRCm39) |
L149P |
probably damaging |
Het |
Pcdha11 |
A |
T |
18: 37,140,336 (GRCm39) |
H655L |
probably damaging |
Het |
Plpp7 |
A |
G |
2: 31,985,996 (GRCm39) |
E58G |
probably benign |
Het |
Psph |
A |
T |
5: 129,867,685 (GRCm39) |
|
probably benign |
Het |
Rab11fip1 |
A |
C |
8: 27,644,748 (GRCm39) |
S346A |
probably damaging |
Het |
Rreb1 |
C |
A |
13: 38,131,384 (GRCm39) |
P1513T |
probably benign |
Het |
Rreb1 |
C |
T |
13: 38,131,385 (GRCm39) |
P1513L |
probably benign |
Het |
Rsf1 |
C |
T |
7: 97,334,766 (GRCm39) |
R1300C |
probably damaging |
Het |
Scap |
A |
G |
9: 110,203,115 (GRCm39) |
N263S |
probably benign |
Het |
Sec24d |
A |
T |
3: 123,072,961 (GRCm39) |
|
probably benign |
Het |
Slain2 |
T |
C |
5: 73,105,888 (GRCm39) |
|
probably benign |
Het |
Slc6a18 |
G |
T |
13: 73,816,278 (GRCm39) |
T367N |
probably benign |
Het |
Spag5 |
G |
A |
11: 78,204,360 (GRCm39) |
V514I |
probably benign |
Het |
St8sia2 |
T |
C |
7: 73,616,654 (GRCm39) |
D107G |
probably damaging |
Het |
Tgfbr3 |
T |
A |
5: 107,288,381 (GRCm39) |
I427F |
probably benign |
Het |
Tlr2 |
T |
G |
3: 83,743,810 (GRCm39) |
T758P |
possibly damaging |
Het |
Tmem270 |
A |
G |
5: 134,931,738 (GRCm39) |
V68A |
probably benign |
Het |
Vmn2r106 |
T |
A |
17: 20,505,583 (GRCm39) |
H37L |
possibly damaging |
Het |
Vmn2r27 |
T |
G |
6: 124,177,647 (GRCm39) |
R452S |
probably damaging |
Het |
Wdr5 |
A |
G |
2: 27,423,362 (GRCm39) |
Y252C |
probably damaging |
Het |
Zswim9 |
C |
T |
7: 12,995,371 (GRCm39) |
V262M |
probably damaging |
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 |
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 |
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'- TCTTGGTGTTGATGAGAATCTAACG -3'
(R):5'- TGCTAATGACTCTCACTGGCAG -3'
Sequencing Primer
(F):5'- TCAAGCATTTAAAGTGTGACAGAC -3'
(R):5'- TGACTCTCACTGGCAGATCAAC -3'
|
Posted On |
2017-02-10 |