Incidental Mutation 'R2261:Slk'
| ID |
243834 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slk
|
| Ensembl Gene |
ENSMUSG00000025060 |
| Gene Name |
STE20-like kinase |
| Synonyms |
Etk4, Stk2, 9A2, SLK, mSLK |
| MMRRC Submission |
040261-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2261 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
47568458-47633685 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 47625791 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 1090
(I1090T)
|
| 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: I1059T
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000026043
Gene: ENSMUSG00000025060
AA Change: I1059T
| 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 damaging
Transcript: ENSMUST00000051691
AA Change: I1090T
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000049977
Gene: ENSMUSG00000025060
AA Change: I1090T
| 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: ENSMUST00000147841
|
| Meta Mutation Damage Score |
0.3580 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.7%
|
| Validation Efficiency |
98% (60/61) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
T |
11: 9,242,288 (GRCm39) |
M1384L |
probably benign |
Het |
| Ahdc1 |
A |
G |
4: 132,790,474 (GRCm39) |
T572A |
unknown |
Het |
| Arhgap31 |
T |
A |
16: 38,429,639 (GRCm39) |
Q412L |
probably damaging |
Het |
| Arsi |
T |
C |
18: 61,049,737 (GRCm39) |
Y207H |
probably damaging |
Het |
| Bco1 |
T |
C |
8: 117,859,764 (GRCm39) |
L489S |
probably damaging |
Het |
| Cacna1g |
T |
A |
11: 94,347,961 (GRCm39) |
H709L |
probably benign |
Het |
| Cacna1h |
T |
C |
17: 25,652,139 (GRCm39) |
T2A |
possibly damaging |
Het |
| Casz1 |
G |
T |
4: 149,013,556 (GRCm39) |
R40L |
probably damaging |
Het |
| Cdh23 |
A |
G |
10: 60,152,907 (GRCm39) |
V2372A |
probably damaging |
Het |
| Cdk17 |
T |
A |
10: 93,047,820 (GRCm39) |
S56T |
possibly damaging |
Het |
| Ces2h |
T |
A |
8: 105,743,191 (GRCm39) |
M142K |
probably damaging |
Het |
| Cfap69 |
C |
A |
5: 5,646,018 (GRCm39) |
V561F |
probably damaging |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Dnah11 |
T |
A |
12: 117,843,760 (GRCm39) |
M4362L |
probably benign |
Het |
| Dnah11 |
T |
C |
12: 117,930,374 (GRCm39) |
T3324A |
probably damaging |
Het |
| Dnajc3 |
A |
G |
14: 119,198,232 (GRCm39) |
Q118R |
probably damaging |
Het |
| Dok4 |
A |
T |
8: 95,593,140 (GRCm39) |
C182S |
probably damaging |
Het |
| Fam184a |
A |
G |
10: 53,523,666 (GRCm39) |
|
probably null |
Het |
| Fanca |
A |
G |
8: 124,016,098 (GRCm39) |
|
probably null |
Het |
| Flt3 |
G |
A |
5: 147,284,873 (GRCm39) |
P748L |
probably benign |
Het |
| Gbp2b |
G |
A |
3: 142,312,496 (GRCm39) |
S293N |
probably benign |
Het |
| Gbp8 |
T |
C |
5: 105,163,999 (GRCm39) |
Q433R |
possibly damaging |
Het |
| Gm12874 |
G |
A |
4: 122,487,533 (GRCm39) |
|
noncoding transcript |
Het |
| Golgb1 |
T |
A |
16: 36,713,722 (GRCm39) |
F234L |
probably damaging |
Het |
| Gpr65 |
A |
T |
12: 98,241,494 (GRCm39) |
N49I |
probably damaging |
Het |
| Grip1 |
G |
A |
10: 119,821,489 (GRCm39) |
V385M |
probably benign |
Het |
| Ltbp3 |
G |
A |
19: 5,804,050 (GRCm39) |
R854Q |
probably benign |
Het |
| Mast4 |
A |
G |
13: 102,934,715 (GRCm39) |
|
probably benign |
Het |
| Mia3 |
A |
G |
1: 183,115,647 (GRCm39) |
Y295H |
probably benign |
Het |
| Morc3 |
T |
A |
16: 93,650,109 (GRCm39) |
|
probably benign |
Het |
| Muc6 |
G |
A |
7: 141,218,313 (GRCm39) |
S2120F |
possibly damaging |
Het |
| Nell1 |
C |
T |
7: 50,210,569 (GRCm39) |
T494I |
possibly damaging |
Het |
| Npy2r |
A |
G |
3: 82,448,346 (GRCm39) |
V30A |
possibly damaging |
Het |
| Nsd2 |
A |
T |
5: 34,042,871 (GRCm39) |
Q1045L |
probably damaging |
Het |
| Or51t4 |
T |
C |
7: 102,598,464 (GRCm39) |
F254S |
probably damaging |
Het |
| Or5d40 |
T |
A |
2: 88,015,965 (GRCm39) |
I248N |
probably damaging |
Het |
| Otub1 |
T |
A |
19: 7,176,861 (GRCm39) |
|
probably null |
Het |
| Pcdh1 |
A |
T |
18: 38,331,710 (GRCm39) |
L431H |
probably benign |
Het |
| Pdgfra |
T |
C |
5: 75,346,184 (GRCm39) |
V778A |
probably benign |
Het |
| Plekhm2 |
C |
T |
4: 141,370,043 (GRCm39) |
E29K |
probably damaging |
Het |
| Ralgapa2 |
T |
C |
2: 146,184,603 (GRCm39) |
N1468S |
probably damaging |
Het |
| Rnf111 |
T |
C |
9: 70,383,673 (GRCm39) |
S87G |
probably benign |
Het |
| Ryr3 |
C |
G |
2: 112,506,218 (GRCm39) |
R3443P |
probably damaging |
Het |
| Saxo1 |
C |
T |
4: 86,397,212 (GRCm39) |
D109N |
probably damaging |
Het |
| Slc19a3 |
A |
T |
1: 83,000,678 (GRCm39) |
F113Y |
probably damaging |
Het |
| Slc20a1 |
A |
G |
2: 129,048,394 (GRCm39) |
R260G |
possibly damaging |
Het |
| Spr-ps1 |
G |
T |
6: 85,132,945 (GRCm39) |
|
noncoding transcript |
Het |
| Ssh1 |
T |
C |
5: 114,080,764 (GRCm39) |
S867G |
possibly damaging |
Het |
| St18 |
T |
A |
1: 6,915,796 (GRCm39) |
C814S |
probably damaging |
Het |
| Stmn2 |
T |
C |
3: 8,606,955 (GRCm39) |
F25S |
probably damaging |
Het |
| Taar3 |
A |
G |
10: 23,826,053 (GRCm39) |
I200V |
probably benign |
Het |
| Tmem184c |
A |
G |
8: 78,323,672 (GRCm39) |
Y397H |
probably damaging |
Het |
| Tmem184c |
T |
C |
8: 78,323,804 (GRCm39) |
T353A |
probably damaging |
Het |
| Tuba1c |
A |
G |
15: 98,935,757 (GRCm39) |
H406R |
probably damaging |
Het |
| Ubr4 |
T |
C |
4: 139,140,773 (GRCm39) |
S1231P |
probably damaging |
Het |
| Ubr5 |
A |
T |
15: 37,988,528 (GRCm39) |
D2143E |
probably damaging |
Het |
| Vmn2r6 |
T |
C |
3: 64,464,090 (GRCm39) |
N248S |
probably benign |
Het |
| Vmn2r63 |
G |
T |
7: 42,578,031 (GRCm39) |
T169N |
probably benign |
Het |
| Zfp37 |
A |
T |
4: 62,109,873 (GRCm39) |
L397Q |
probably damaging |
Het |
| Zmym2 |
G |
A |
14: 57,165,719 (GRCm39) |
E681K |
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 |
|
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 |
|
|
|
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'- GAACAGCTGTGGGTTCTGAG -3'
(R):5'- GAACACGCTTTGCCCTCTATG -3'
Sequencing Primer
(F):5'- TGAGAGTTACGTTATCTCTGCAC -3'
(R):5'- GCCCTCTATGGTCTCAAATAAGG -3'
|
| Posted On |
2014-10-16 |
Incidental Mutation