Incidental Mutation 'R4024:Slk'
| ID |
313427 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slk
|
| Ensembl Gene |
ENSMUSG00000025060 |
| Gene Name |
STE20-like kinase |
| Synonyms |
Etk4, Stk2, 9A2, SLK, mSLK |
| MMRRC Submission |
041612-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4024 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
47568458-47633685 bp(+) (GRCm39) |
| Type of Mutation |
splice site (4 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 47610809 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000049977
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026043]
[ENSMUST00000051691]
|
| AlphaFold |
O54988 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000026043
|
| SMART Domains |
Protein: ENSMUSP00000026043
Gene: ENSMUSG00000025060
| 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 null
Transcript: ENSMUST00000051691
|
| SMART Domains |
Protein: ENSMUSP00000049977
Gene: ENSMUSG00000025060
| 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
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.5%
|
| Validation Efficiency |
98% (58/59) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actn1 |
A |
G |
12: 80,215,251 (GRCm39) |
Y842H |
probably damaging |
Het |
| Adamts9 |
A |
G |
6: 92,849,765 (GRCm39) |
|
probably benign |
Het |
| Adgrg7 |
A |
T |
16: 56,550,661 (GRCm39) |
Y684N |
probably damaging |
Het |
| Aoc1 |
A |
T |
6: 48,885,203 (GRCm39) |
N646I |
probably damaging |
Het |
| Armc2 |
A |
G |
10: 41,869,054 (GRCm39) |
S37P |
probably benign |
Het |
| Bhmt2 |
G |
A |
13: 93,799,839 (GRCm39) |
|
probably benign |
Het |
| Bpifb1 |
A |
T |
2: 154,054,966 (GRCm39) |
D286V |
probably damaging |
Het |
| Cadps |
T |
A |
14: 12,705,539 (GRCm38) |
E285D |
probably damaging |
Het |
| Cap2 |
C |
T |
13: 46,791,317 (GRCm39) |
|
probably benign |
Het |
| Clcn4 |
T |
G |
7: 7,293,427 (GRCm39) |
Y443S |
probably damaging |
Het |
| Clcn6 |
T |
A |
4: 148,098,740 (GRCm39) |
T463S |
possibly damaging |
Het |
| Cmip |
A |
G |
8: 118,174,155 (GRCm39) |
I412V |
possibly damaging |
Het |
| Cndp1 |
T |
C |
18: 84,646,938 (GRCm39) |
D250G |
probably damaging |
Het |
| Colec10 |
A |
G |
15: 54,325,947 (GRCm39) |
D259G |
probably damaging |
Het |
| Ctnna2 |
A |
T |
6: 77,613,827 (GRCm39) |
D254E |
possibly damaging |
Het |
| Dlec1 |
T |
C |
9: 118,966,408 (GRCm39) |
Y1126H |
probably damaging |
Het |
| Dzank1 |
T |
C |
2: 144,324,147 (GRCm39) |
S565G |
probably benign |
Het |
| Eef2k |
A |
G |
7: 120,457,821 (GRCm39) |
Y60C |
probably benign |
Het |
| Fbxl4 |
T |
C |
4: 22,377,074 (GRCm39) |
V170A |
possibly damaging |
Het |
| Foxk2 |
T |
A |
11: 121,176,439 (GRCm39) |
I195N |
possibly damaging |
Het |
| Gm10608 |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
9: 118,989,784 (GRCm39) |
|
probably benign |
Het |
| Gpr6 |
G |
A |
10: 40,947,264 (GRCm39) |
T106M |
probably damaging |
Het |
| Grk3 |
T |
A |
5: 113,062,850 (GRCm39) |
N666Y |
possibly damaging |
Het |
| Hnmt |
T |
C |
2: 23,893,777 (GRCm39) |
D239G |
probably benign |
Het |
| Igf2 |
A |
G |
7: 142,208,044 (GRCm39) |
V111A |
probably benign |
Het |
| Lrriq3 |
G |
A |
3: 154,893,939 (GRCm39) |
E547K |
probably benign |
Het |
| Lrriq4 |
T |
C |
3: 30,704,422 (GRCm39) |
V150A |
possibly damaging |
Het |
| Mroh8 |
A |
G |
2: 157,098,272 (GRCm39) |
V292A |
probably benign |
Het |
| Myo1e |
A |
G |
9: 70,232,157 (GRCm39) |
I229V |
probably benign |
Het |
| Nisch |
A |
G |
14: 30,898,776 (GRCm39) |
|
probably benign |
Het |
| Nkx2-2 |
T |
C |
2: 147,026,154 (GRCm39) |
T195A |
probably benign |
Het |
| Or10aa3 |
C |
T |
1: 173,878,683 (GRCm39) |
T248I |
probably benign |
Het |
| Or2t47 |
G |
A |
11: 58,442,222 (GRCm39) |
T281I |
possibly damaging |
Het |
| Or5p63 |
A |
T |
7: 107,810,949 (GRCm39) |
Y262* |
probably null |
Het |
| Or8w1 |
T |
A |
2: 87,465,499 (GRCm39) |
L197F |
probably damaging |
Het |
| Plekhn1 |
A |
G |
4: 156,309,207 (GRCm39) |
V233A |
probably damaging |
Het |
| Ppp3r1 |
T |
C |
11: 17,144,786 (GRCm39) |
V133A |
probably damaging |
Het |
| Sash1 |
T |
C |
10: 8,605,681 (GRCm39) |
D903G |
probably benign |
Het |
| Scn8a |
A |
G |
15: 100,937,674 (GRCm39) |
D1681G |
probably damaging |
Het |
| Tasor2 |
T |
C |
13: 3,634,554 (GRCm39) |
D751G |
probably damaging |
Het |
| Tlr11 |
C |
T |
14: 50,600,303 (GRCm39) |
T763I |
probably benign |
Het |
| Ttbk2 |
T |
C |
2: 120,590,736 (GRCm39) |
T308A |
possibly damaging |
Het |
| Tyk2 |
G |
A |
9: 21,027,215 (GRCm39) |
L552F |
probably damaging |
Het |
| Ubp1 |
A |
G |
9: 113,773,951 (GRCm39) |
D50G |
probably benign |
Het |
| Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
| Ulk4 |
A |
T |
9: 120,873,915 (GRCm39) |
I1172N |
possibly damaging |
Het |
| Usf3 |
T |
A |
16: 44,036,528 (GRCm39) |
V336E |
possibly damaging |
Het |
| Vangl2 |
T |
C |
1: 171,835,608 (GRCm39) |
S355G |
probably benign |
Het |
| Vmn1r216 |
A |
G |
13: 23,284,061 (GRCm39) |
D248G |
probably damaging |
Het |
| Vmn1r34 |
T |
A |
6: 66,614,688 (GRCm39) |
M17L |
probably benign |
Het |
| Vmn2r120 |
T |
A |
17: 57,843,718 (GRCm39) |
D42V |
possibly damaging |
Het |
| Vmn2r6 |
A |
T |
3: 64,445,671 (GRCm39) |
S685T |
possibly damaging |
Het |
| Vsig10l |
T |
C |
7: 43,117,510 (GRCm39) |
V701A |
probably benign |
Het |
| Wdfy3 |
A |
G |
5: 102,071,961 (GRCm39) |
|
probably benign |
Het |
| Zfp808 |
T |
A |
13: 62,319,544 (GRCm39) |
C258S |
possibly damaging |
Het |
| Zfp988 |
A |
C |
4: 147,417,242 (GRCm39) |
K559Q |
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 |
|
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 |
|
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'- GGCAAGACATCTTCAGTTTTAAAGAGG -3'
(R):5'- AAGTTCCTGACGCCTGACAG -3'
Sequencing Primer
(F):5'- TCATGGGTGATATTTACACAAAACC -3'
(R):5'- TGACGCCTGACAGAGTGC -3'
|
| Posted On |
2015-04-30 |
Incidental Mutation