Incidental Mutation 'R5688:Slk'
| ID |
443543 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slk
|
| Ensembl Gene |
ENSMUSG00000025060 |
| Gene Name |
STE20-like kinase |
| Synonyms |
Etk4, Stk2, 9A2, SLK, mSLK |
| MMRRC Submission |
043321-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5688 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
47568458-47633685 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 47608451 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 468
(D468G)
|
| 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: D468G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000026043
Gene: ENSMUSG00000025060
AA Change: D468G
| 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: D468G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000049977
Gene: ENSMUSG00000025060
AA Change: D468G
| 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: 99.4%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.3%
|
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acp7 |
G |
A |
7: 28,315,920 (GRCm39) |
A222V |
probably benign |
Het |
| Ahnak |
A |
G |
19: 8,979,883 (GRCm39) |
D389G |
probably benign |
Het |
| Aldh1l2 |
A |
T |
10: 83,337,789 (GRCm39) |
S559T |
possibly damaging |
Het |
| Alms1 |
T |
A |
6: 85,576,877 (GRCm39) |
N144K |
possibly damaging |
Het |
| Anp32b |
T |
A |
4: 46,469,868 (GRCm39) |
|
probably null |
Het |
| Atf7 |
C |
T |
15: 102,459,944 (GRCm39) |
R57H |
probably damaging |
Het |
| Atp10b |
A |
T |
11: 43,092,000 (GRCm39) |
H345L |
probably benign |
Het |
| Cacna2d1 |
A |
T |
5: 16,563,950 (GRCm39) |
I859F |
probably damaging |
Het |
| Calcr |
T |
A |
6: 3,714,730 (GRCm39) |
|
probably null |
Het |
| Cd248 |
A |
G |
19: 5,119,963 (GRCm39) |
T604A |
probably benign |
Het |
| Cemip |
C |
T |
7: 83,610,849 (GRCm39) |
V702M |
probably damaging |
Het |
| Cep295 |
G |
T |
9: 15,243,282 (GRCm39) |
Q469K |
probably damaging |
Het |
| Cntn5 |
A |
G |
9: 9,748,427 (GRCm39) |
W485R |
probably damaging |
Het |
| Cpe |
T |
C |
8: 65,062,189 (GRCm39) |
N289S |
possibly damaging |
Het |
| Cyp2j11 |
G |
A |
4: 96,233,358 (GRCm39) |
R113C |
probably damaging |
Het |
| Dcp1b |
T |
C |
6: 119,194,872 (GRCm39) |
S531P |
probably benign |
Het |
| Defb7 |
T |
G |
8: 19,545,167 (GRCm39) |
L15R |
probably damaging |
Het |
| Dnah2 |
C |
T |
11: 69,349,746 (GRCm39) |
R2399Q |
probably benign |
Het |
| Ednrb |
T |
C |
14: 104,060,831 (GRCm39) |
D198G |
probably damaging |
Het |
| Engase |
A |
C |
11: 118,378,146 (GRCm39) |
E312A |
possibly damaging |
Het |
| Evl |
G |
A |
12: 108,639,612 (GRCm39) |
|
probably null |
Het |
| Faf1 |
C |
A |
4: 109,652,010 (GRCm39) |
Q234K |
probably damaging |
Het |
| Garre1 |
T |
A |
7: 33,953,416 (GRCm39) |
T449S |
possibly damaging |
Het |
| Garre1 |
T |
G |
7: 33,984,134 (GRCm39) |
D163A |
probably damaging |
Het |
| Gm5460 |
C |
A |
14: 33,767,752 (GRCm39) |
N453K |
possibly damaging |
Het |
| Gm7356 |
T |
A |
17: 14,220,869 (GRCm39) |
I387F |
possibly damaging |
Het |
| H1f2 |
A |
G |
13: 23,923,148 (GRCm39) |
K106R |
probably damaging |
Het |
| Hagh |
T |
C |
17: 25,069,568 (GRCm39) |
M1T |
probably null |
Het |
| Hars1 |
A |
T |
18: 36,905,369 (GRCm39) |
V155E |
probably damaging |
Het |
| Lca5 |
C |
A |
9: 83,280,619 (GRCm39) |
D394Y |
probably benign |
Het |
| Lmtk3 |
T |
C |
7: 45,440,834 (GRCm39) |
L280P |
probably damaging |
Het |
| Lrit1 |
C |
T |
14: 36,784,385 (GRCm39) |
A571V |
possibly damaging |
Het |
| Map4k2 |
C |
A |
19: 6,396,836 (GRCm39) |
P584H |
probably damaging |
Het |
| Mgst1 |
T |
C |
6: 138,118,798 (GRCm39) |
|
probably benign |
Het |
| Mtrex |
A |
T |
13: 113,009,590 (GRCm39) |
C936* |
probably null |
Het |
| Neb |
C |
T |
2: 52,086,339 (GRCm39) |
V5245I |
probably damaging |
Het |
| Oas3 |
T |
C |
5: 120,896,867 (GRCm39) |
N918S |
probably benign |
Het |
| Or4c106 |
C |
T |
2: 88,683,023 (GRCm39) |
T243I |
probably benign |
Het |
| Or5d16 |
T |
A |
2: 87,773,552 (GRCm39) |
Q140L |
probably benign |
Het |
| Or8b8 |
A |
C |
9: 37,809,359 (GRCm39) |
I220L |
possibly damaging |
Het |
| Ovch2 |
A |
G |
7: 107,393,201 (GRCm39) |
L224P |
probably damaging |
Het |
| Patj |
A |
T |
4: 98,409,047 (GRCm39) |
K34* |
probably null |
Het |
| Pcf11 |
T |
A |
7: 92,308,016 (GRCm39) |
R717S |
possibly damaging |
Het |
| Plcb1 |
A |
T |
2: 135,177,400 (GRCm39) |
E577D |
probably benign |
Het |
| Plxnb2 |
T |
C |
15: 89,042,899 (GRCm39) |
K1497E |
probably damaging |
Het |
| Pyroxd1 |
C |
A |
6: 142,299,266 (GRCm39) |
L141I |
probably damaging |
Het |
| Rhobtb3 |
G |
T |
13: 76,020,537 (GRCm39) |
N588K |
probably benign |
Het |
| Rnasel |
G |
A |
1: 153,629,452 (GRCm39) |
|
probably benign |
Het |
| Sh3bp5 |
C |
A |
14: 31,099,452 (GRCm39) |
R265L |
probably benign |
Het |
| Shank1 |
A |
T |
7: 44,003,911 (GRCm39) |
I1868F |
possibly damaging |
Het |
| Slc28a3 |
A |
T |
13: 58,706,463 (GRCm39) |
S593T |
probably damaging |
Het |
| Slc29a4 |
T |
C |
5: 142,699,853 (GRCm39) |
I168T |
possibly damaging |
Het |
| Slc35f5 |
C |
T |
1: 125,518,775 (GRCm39) |
P502L |
probably benign |
Het |
| Slco6d1 |
T |
C |
1: 98,408,493 (GRCm39) |
I463T |
probably damaging |
Het |
| Spata31d1d |
G |
T |
13: 59,874,322 (GRCm39) |
P1071Q |
probably damaging |
Het |
| Tert |
G |
A |
13: 73,787,275 (GRCm39) |
V754I |
probably damaging |
Het |
| Thada |
T |
C |
17: 84,759,155 (GRCm39) |
T235A |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,564,472 (GRCm39) |
D28555G |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,710,328 (GRCm39) |
|
probably null |
Het |
| Ubqln4 |
T |
C |
3: 88,472,575 (GRCm39) |
L464P |
probably damaging |
Het |
| Unc45b |
A |
T |
11: 82,813,643 (GRCm39) |
N350I |
possibly damaging |
Het |
| Vmn2r65 |
T |
C |
7: 84,589,900 (GRCm39) |
D672G |
probably benign |
Het |
| Zfp947 |
T |
A |
17: 22,365,066 (GRCm39) |
I203L |
probably benign |
Het |
| Zfp964 |
T |
A |
8: 70,116,766 (GRCm39) |
H454Q |
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 |
|
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 |
|
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'- TGGGGCTGAACTAAATGACC -3'
(R):5'- GTGTCATCTAGAGCCTCGTC -3'
Sequencing Primer
(F):5'- TGACCAAACAGTAGGAATCCATG -3'
(R):5'- CTGGTTATAACTTTTTGAGCTGTACC -3'
|
| Posted On |
2016-11-09 |
Incidental Mutation