Incidental Mutation 'R8847:Slk'
| ID |
674796 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slk
|
| Ensembl Gene |
ENSMUSG00000025060 |
| Gene Name |
STE20-like kinase |
| Synonyms |
Etk4, Stk2, 9A2, SLK, mSLK |
| MMRRC Submission |
068735-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8847 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
47568458-47633685 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 47607632 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 289
(H289Q)
|
| 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: H289Q
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000026043
Gene: ENSMUSG00000025060
AA Change: H289Q
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000049977
Gene: ENSMUSG00000025060
AA Change: H289Q
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.9%
|
| Validation Efficiency |
100% (64/64) |
| 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 |
|---|
| Adam25 |
G |
C |
8: 41,206,746 (GRCm39) |
R4T |
probably benign |
Het |
| Alk |
T |
A |
17: 72,256,820 (GRCm39) |
I680F |
probably benign |
Het |
| Best3 |
A |
G |
10: 116,824,572 (GRCm39) |
T13A |
possibly damaging |
Het |
| Ccdc7b |
A |
G |
8: 129,872,082 (GRCm39) |
D59G |
|
Het |
| Cd300ld2 |
CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG |
CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG |
11: 114,903,257 (GRCm39) |
|
probably benign |
Het |
| Cic |
G |
A |
7: 24,970,631 (GRCm39) |
V121M |
probably damaging |
Het |
| Clasp1 |
C |
G |
1: 118,506,705 (GRCm39) |
P1280R |
probably damaging |
Het |
| Col6a5 |
A |
T |
9: 105,741,472 (GRCm39) |
N2482K |
possibly damaging |
Het |
| Crebbp |
A |
G |
16: 3,902,891 (GRCm39) |
M2116T |
probably benign |
Het |
| Ddn |
T |
C |
15: 98,704,794 (GRCm39) |
E166G |
possibly damaging |
Het |
| Dennd6a |
C |
T |
14: 26,327,086 (GRCm39) |
T249I |
probably benign |
Het |
| Diaph1 |
A |
T |
18: 37,987,590 (GRCm39) |
D1055E |
possibly damaging |
Het |
| Dnajc13 |
C |
A |
9: 104,057,360 (GRCm39) |
G1547* |
probably null |
Het |
| Dvl1 |
C |
T |
4: 155,942,611 (GRCm39) |
R626C |
possibly damaging |
Het |
| Fer1l6 |
A |
C |
15: 58,414,012 (GRCm39) |
K13Q |
possibly damaging |
Het |
| Fry |
G |
A |
5: 150,309,472 (GRCm39) |
E639K |
|
Het |
| Gm6408 |
G |
T |
5: 146,420,602 (GRCm39) |
V161L |
probably benign |
Het |
| Gpatch8 |
A |
T |
11: 102,372,010 (GRCm39) |
N509K |
unknown |
Het |
| Hycc2 |
G |
T |
1: 58,595,713 (GRCm39) |
P55Q |
probably damaging |
Het |
| Ints13 |
T |
C |
6: 146,457,631 (GRCm39) |
T416A |
probably benign |
Het |
| Iqcf6 |
A |
T |
9: 106,504,650 (GRCm39) |
M105L |
probably damaging |
Het |
| Magi3 |
C |
A |
3: 103,922,334 (GRCm39) |
R1461L |
probably benign |
Het |
| Map3k8 |
A |
T |
18: 4,333,889 (GRCm39) |
L401Q |
|
Het |
| Miga2 |
G |
T |
2: 30,273,990 (GRCm39) |
R542L |
probably damaging |
Het |
| Mphosph9 |
A |
T |
5: 124,454,209 (GRCm39) |
V96E |
possibly damaging |
Het |
| Nek5 |
T |
C |
8: 22,613,595 (GRCm39) |
S28G |
probably benign |
Het |
| Niban1 |
A |
G |
1: 151,575,929 (GRCm39) |
E351G |
probably damaging |
Het |
| Notch4 |
A |
G |
17: 34,803,962 (GRCm39) |
|
probably benign |
Het |
| Npc1 |
A |
G |
18: 12,323,987 (GRCm39) |
L1275P |
probably damaging |
Het |
| Nphp4 |
C |
T |
4: 152,590,863 (GRCm39) |
R287C |
probably damaging |
Het |
| Or10ak11 |
T |
C |
4: 118,686,821 (GRCm39) |
D271G |
probably damaging |
Het |
| Or13a20 |
G |
C |
7: 140,232,326 (GRCm39) |
A145P |
possibly damaging |
Het |
| Or1j13 |
G |
A |
2: 36,369,483 (GRCm39) |
R220* |
probably null |
Het |
| Or1p1c |
C |
T |
11: 74,160,443 (GRCm39) |
T76I |
probably damaging |
Het |
| Parn |
A |
T |
16: 13,446,270 (GRCm39) |
L343* |
probably null |
Het |
| Pax5 |
T |
A |
4: 44,691,865 (GRCm39) |
D127V |
probably benign |
Het |
| Peak1 |
C |
A |
9: 56,114,427 (GRCm39) |
D1505Y |
probably damaging |
Het |
| Perm1 |
C |
T |
4: 156,302,068 (GRCm39) |
T204I |
probably benign |
Het |
| Pid1 |
A |
T |
1: 84,093,694 (GRCm39) |
S65T |
unknown |
Het |
| Pkn2 |
A |
G |
3: 142,526,401 (GRCm39) |
V392A |
probably benign |
Het |
| Plekhh2 |
A |
G |
17: 84,878,479 (GRCm39) |
D578G |
probably benign |
Het |
| Ppp4r4 |
T |
A |
12: 103,562,747 (GRCm39) |
L572Q |
probably damaging |
Het |
| Pum3 |
G |
A |
19: 27,398,713 (GRCm39) |
T279M |
probably damaging |
Het |
| Rasa2 |
A |
G |
9: 96,458,402 (GRCm39) |
V266A |
possibly damaging |
Het |
| Sirpb1c |
C |
T |
3: 15,886,584 (GRCm39) |
W264* |
probably null |
Het |
| Slc35g3 |
A |
T |
11: 69,651,399 (GRCm39) |
Y195* |
probably null |
Het |
| Spef2 |
T |
C |
15: 9,668,913 (GRCm39) |
S758G |
probably benign |
Het |
| Spon2 |
C |
T |
5: 33,371,841 (GRCm39) |
A322T |
probably benign |
Het |
| Spred2 |
T |
C |
11: 19,951,064 (GRCm39) |
L87P |
probably benign |
Het |
| Stk10 |
A |
G |
11: 32,539,427 (GRCm39) |
D269G |
|
Het |
| Tex48 |
T |
A |
4: 63,530,772 (GRCm39) |
|
probably benign |
Het |
| Themis2 |
T |
A |
4: 132,513,509 (GRCm39) |
H239L |
probably damaging |
Het |
| Tle4 |
T |
A |
19: 14,493,737 (GRCm39) |
R199* |
probably null |
Het |
| Tlr11 |
C |
T |
14: 50,600,182 (GRCm39) |
H723Y |
possibly damaging |
Het |
| Trdj2 |
T |
A |
14: 54,374,237 (GRCm39) |
S1T |
|
Het |
| Vdac1 |
T |
G |
11: 52,267,230 (GRCm39) |
S44A |
|
Het |
| Vill |
C |
T |
9: 118,897,514 (GRCm39) |
T647I |
probably damaging |
Het |
| Vmn1r61 |
A |
G |
7: 5,613,817 (GRCm39) |
C166R |
probably damaging |
Het |
| Vmn2r114 |
T |
A |
17: 23,528,986 (GRCm39) |
N372I |
probably damaging |
Het |
| Vmn2r120 |
T |
A |
17: 57,816,217 (GRCm39) |
M713L |
probably benign |
Het |
| Vmn2r61 |
T |
C |
7: 41,950,010 (GRCm39) |
V810A |
probably damaging |
Het |
| Vmn2r65 |
A |
T |
7: 84,590,212 (GRCm39) |
L568Q |
probably damaging |
Het |
| Wdr7 |
T |
C |
18: 63,872,293 (GRCm39) |
V409A |
probably damaging |
Het |
| Ylpm1 |
C |
A |
12: 85,061,672 (GRCm39) |
N524K |
unknown |
Het |
| Zfp958 |
A |
C |
8: 4,678,434 (GRCm39) |
H153P |
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 |
|
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 |
|
|
|
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'- AAAATCCAGCTCAGGCAATTTT -3'
(R):5'- TCTAACTGAAGGTTCTGCTCTGC -3'
Sequencing Primer
(F):5'- CAGCTCAGGCAATTTTTAATTTTTGC -3'
(R):5'- GCACCCTCAGATCCATGTG -3'
|
| Posted On |
2021-07-15 |
Incidental Mutation