Incidental Mutation 'R6279:Slk'
| ID |
507866 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slk
|
| Ensembl Gene |
ENSMUSG00000025060 |
| Gene Name |
STE20-like kinase |
| Synonyms |
Etk4, Stk2, 9A2, SLK, mSLK |
| MMRRC Submission |
044449-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6279 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
47568458-47633685 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 47630443 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 1205
(T1205A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000049977
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026043]
[ENSMUST00000026045]
[ENSMUST00000051691]
[ENSMUST00000086923]
|
| AlphaFold |
O54988 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000026043
AA Change: T1174A
PolyPhen 2
Score 0.580 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000026043
Gene: ENSMUSG00000025060
AA Change: T1174A
| 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: ENSMUST00000026045
|
| SMART Domains |
Protein: ENSMUSP00000026045
Gene: ENSMUSG00000025064
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
28 |
N/A |
INTRINSIC |
|
low complexity region
|
60 |
74 |
N/A |
INTRINSIC |
|
low complexity region
|
317 |
335 |
N/A |
INTRINSIC |
|
low complexity region
|
431 |
461 |
N/A |
INTRINSIC |
|
transmembrane domain
|
476 |
498 |
N/A |
INTRINSIC |
|
Pfam:Collagen
|
570 |
631 |
3.2e-10 |
PFAM |
|
low complexity region
|
634 |
651 |
N/A |
INTRINSIC |
|
low complexity region
|
657 |
693 |
N/A |
INTRINSIC |
|
internal_repeat_4
|
695 |
714 |
1.12e-5 |
PROSPERO |
|
internal_repeat_3
|
695 |
723 |
3.81e-6 |
PROSPERO |
|
internal_repeat_1
|
709 |
735 |
1.93e-9 |
PROSPERO |
|
internal_repeat_4
|
719 |
738 |
1.12e-5 |
PROSPERO |
|
Pfam:Collagen
|
753 |
816 |
1.3e-10 |
PFAM |
|
Pfam:Collagen
|
825 |
871 |
5.9e-9 |
PFAM |
|
low complexity region
|
889 |
927 |
N/A |
INTRINSIC |
|
low complexity region
|
939 |
960 |
N/A |
INTRINSIC |
|
low complexity region
|
981 |
999 |
N/A |
INTRINSIC |
|
low complexity region
|
1024 |
1034 |
N/A |
INTRINSIC |
|
low complexity region
|
1054 |
1071 |
N/A |
INTRINSIC |
|
low complexity region
|
1091 |
1113 |
N/A |
INTRINSIC |
|
low complexity region
|
1126 |
1147 |
N/A |
INTRINSIC |
|
low complexity region
|
1165 |
1177 |
N/A |
INTRINSIC |
|
low complexity region
|
1201 |
1217 |
N/A |
INTRINSIC |
|
low complexity region
|
1252 |
1266 |
N/A |
INTRINSIC |
|
low complexity region
|
1275 |
1337 |
N/A |
INTRINSIC |
|
low complexity region
|
1375 |
1385 |
N/A |
INTRINSIC |
|
Pfam:Collagen
|
1408 |
1462 |
3.5e-9 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000051691
AA Change: T1205A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000049977
Gene: ENSMUSG00000025060
AA Change: T1205A
| 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 |
probably benign
Transcript: ENSMUST00000086923
|
| SMART Domains |
Protein: ENSMUSP00000084141
Gene: ENSMUSG00000025064
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
28 |
N/A |
INTRINSIC |
|
low complexity region
|
60 |
74 |
N/A |
INTRINSIC |
|
low complexity region
|
317 |
335 |
N/A |
INTRINSIC |
|
low complexity region
|
431 |
461 |
N/A |
INTRINSIC |
|
transmembrane domain
|
476 |
498 |
N/A |
INTRINSIC |
|
Pfam:Collagen
|
570 |
631 |
3.1e-10 |
PFAM |
|
Pfam:Collagen
|
647 |
726 |
5.2e-7 |
PFAM |
|
Pfam:Collagen
|
699 |
772 |
1.8e-9 |
PFAM |
|
Pfam:Collagen
|
753 |
816 |
1.3e-10 |
PFAM |
|
Pfam:Collagen
|
825 |
871 |
5.9e-9 |
PFAM |
|
low complexity region
|
889 |
927 |
N/A |
INTRINSIC |
|
low complexity region
|
939 |
960 |
N/A |
INTRINSIC |
|
low complexity region
|
981 |
999 |
N/A |
INTRINSIC |
|
low complexity region
|
1024 |
1034 |
N/A |
INTRINSIC |
|
low complexity region
|
1054 |
1071 |
N/A |
INTRINSIC |
|
low complexity region
|
1091 |
1113 |
N/A |
INTRINSIC |
|
low complexity region
|
1126 |
1147 |
N/A |
INTRINSIC |
|
low complexity region
|
1164 |
1180 |
N/A |
INTRINSIC |
|
low complexity region
|
1215 |
1229 |
N/A |
INTRINSIC |
|
low complexity region
|
1238 |
1300 |
N/A |
INTRINSIC |
|
low complexity region
|
1338 |
1348 |
N/A |
INTRINSIC |
|
Pfam:Collagen
|
1371 |
1425 |
3.5e-9 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.5%
|
| Validation Efficiency |
97% (58/60) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap1s3 |
T |
C |
1: 79,602,840 (GRCm39) |
K56E |
probably damaging |
Het |
| Apob |
C |
T |
12: 8,057,769 (GRCm39) |
R2084* |
probably null |
Het |
| Arid1b |
C |
A |
17: 5,392,274 (GRCm39) |
L1935M |
probably damaging |
Het |
| Bag6 |
T |
C |
17: 35,357,577 (GRCm39) |
V122A |
probably damaging |
Het |
| Bmal2 |
A |
G |
6: 146,723,444 (GRCm39) |
Y258C |
probably damaging |
Het |
| Cacna1e |
T |
A |
1: 154,301,678 (GRCm39) |
T1685S |
probably benign |
Het |
| Cd163 |
T |
A |
6: 124,294,950 (GRCm39) |
C671* |
probably null |
Het |
| Cul3 |
A |
G |
1: 80,264,669 (GRCm39) |
V211A |
probably damaging |
Het |
| Cyp2d22 |
C |
A |
15: 82,258,169 (GRCm39) |
K150N |
probably damaging |
Het |
| Dnah6 |
A |
T |
6: 73,042,798 (GRCm39) |
I3208N |
probably damaging |
Het |
| Dnah7b |
T |
C |
1: 46,365,046 (GRCm39) |
F3609S |
probably damaging |
Het |
| Endod1 |
T |
C |
9: 14,268,166 (GRCm39) |
T440A |
probably benign |
Het |
| Exph5 |
A |
G |
9: 53,285,246 (GRCm39) |
T776A |
possibly damaging |
Het |
| Faap24 |
A |
C |
7: 35,095,709 (GRCm39) |
V12G |
possibly damaging |
Het |
| Gabrg2 |
T |
C |
11: 41,891,350 (GRCm39) |
|
probably null |
Het |
| Ggta1 |
A |
G |
2: 35,298,006 (GRCm39) |
Y148H |
probably damaging |
Het |
| Hspe1 |
T |
A |
1: 55,129,860 (GRCm39) |
|
probably null |
Het |
| Il12a |
A |
T |
3: 68,605,312 (GRCm39) |
I193F |
probably damaging |
Het |
| Il2rb |
T |
C |
15: 78,365,738 (GRCm39) |
N520D |
possibly damaging |
Het |
| Kat6a |
A |
G |
8: 23,429,628 (GRCm39) |
Q1661R |
unknown |
Het |
| Klhl18 |
T |
A |
9: 110,265,130 (GRCm39) |
N362I |
probably benign |
Het |
| Lrba |
A |
G |
3: 86,256,171 (GRCm39) |
D1171G |
probably benign |
Het |
| Mef2b |
C |
T |
8: 70,619,769 (GRCm39) |
T285I |
possibly damaging |
Het |
| Mmrn2 |
T |
C |
14: 34,119,614 (GRCm39) |
S198P |
probably benign |
Het |
| Msh6 |
T |
C |
17: 88,287,677 (GRCm39) |
W106R |
probably damaging |
Het |
| Nek5 |
T |
A |
8: 22,597,737 (GRCm39) |
M281L |
probably benign |
Het |
| Or10w3 |
A |
G |
19: 13,704,029 (GRCm39) |
I135V |
probably benign |
Het |
| Or2y15 |
T |
A |
11: 49,351,039 (GRCm39) |
C178S |
probably damaging |
Het |
| Or4c105 |
A |
T |
2: 88,647,719 (GRCm39) |
D68V |
probably damaging |
Het |
| Or52e19 |
A |
T |
7: 102,959,636 (GRCm39) |
H236L |
probably benign |
Het |
| Or52e7 |
G |
A |
7: 104,684,878 (GRCm39) |
V158M |
probably benign |
Het |
| Pcdhgb5 |
T |
A |
18: 37,865,752 (GRCm39) |
F516I |
probably damaging |
Het |
| Pde10a |
T |
C |
17: 9,197,789 (GRCm39) |
I1026T |
probably damaging |
Het |
| Pde4dip |
A |
C |
3: 97,606,496 (GRCm39) |
L2126R |
probably damaging |
Het |
| Pds5b |
T |
A |
5: 150,646,713 (GRCm39) |
N167K |
possibly damaging |
Het |
| Pkmyt1 |
C |
T |
17: 23,951,476 (GRCm39) |
P10L |
probably benign |
Het |
| Pphln1-ps1 |
T |
C |
16: 13,495,134 (GRCm39) |
S78P |
probably damaging |
Het |
| Prr5l |
A |
T |
2: 101,547,765 (GRCm39) |
Y253* |
probably null |
Het |
| Rdh9 |
A |
G |
10: 127,612,627 (GRCm39) |
T92A |
probably benign |
Het |
| Reln |
A |
G |
5: 22,101,839 (GRCm39) |
Y3364H |
probably damaging |
Het |
| Rufy4 |
T |
A |
1: 74,172,383 (GRCm39) |
S369T |
probably benign |
Het |
| Ryr1 |
A |
T |
7: 28,786,853 (GRCm39) |
M1587K |
possibly damaging |
Het |
| Ryr2 |
T |
A |
13: 11,695,885 (GRCm39) |
H2994L |
probably damaging |
Het |
| Safb2 |
T |
C |
17: 56,870,226 (GRCm39) |
H950R |
possibly damaging |
Het |
| Sez6 |
T |
C |
11: 77,867,367 (GRCm39) |
V788A |
possibly damaging |
Het |
| Sfrp4 |
G |
A |
13: 19,808,023 (GRCm39) |
A141T |
probably damaging |
Het |
| Sh3d19 |
A |
T |
3: 86,011,409 (GRCm39) |
I332F |
possibly damaging |
Het |
| Skor1 |
A |
T |
9: 63,052,596 (GRCm39) |
W458R |
probably damaging |
Het |
| Slc13a2 |
CGTTATCTGT |
CGT |
11: 78,294,306 (GRCm39) |
|
probably benign |
Het |
| Slc19a2 |
C |
T |
1: 164,084,344 (GRCm39) |
T78M |
probably damaging |
Het |
| Slc8a3 |
T |
A |
12: 81,361,752 (GRCm39) |
I356F |
probably damaging |
Het |
| Tcte1 |
T |
C |
17: 45,844,215 (GRCm39) |
S64P |
possibly damaging |
Het |
| Tnpo1 |
G |
A |
13: 99,027,216 (GRCm39) |
P25L |
possibly damaging |
Het |
| Top3a |
T |
C |
11: 60,640,234 (GRCm39) |
D488G |
probably benign |
Het |
| Tshz1 |
A |
T |
18: 84,033,436 (GRCm39) |
V324D |
probably damaging |
Het |
| Ttc21a |
T |
C |
9: 119,790,905 (GRCm39) |
S884P |
possibly damaging |
Het |
| Usp17lb |
A |
G |
7: 104,489,898 (GRCm39) |
L342P |
probably damaging |
Het |
| Vwa3a |
A |
G |
7: 120,381,623 (GRCm39) |
N3S |
probably damaging |
Het |
| Zfp672 |
A |
T |
11: 58,208,094 (GRCm39) |
C76S |
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 |
|
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'- AACCTGGGGCTATTGCAAAG -3'
(R):5'- AAGATGAAGCAGGTGATTGTCTTTG -3'
Sequencing Primer
(F):5'- CAGTTGTGAGCCACCCAGTATTAG -3'
(R):5'- TGTAGTCATACATACTGTGGAAGATG -3'
|
| Posted On |
2018-03-15 |
Incidental Mutation