Incidental Mutation 'R6431:Slk'
| ID |
518574 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slk
|
| Ensembl Gene |
ENSMUSG00000025060 |
| Gene Name |
STE20-like kinase |
| Synonyms |
Etk4, Stk2, 9A2, SLK, mSLK |
| MMRRC Submission |
044569-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6431 (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 47609327 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 760
(D760G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026043
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026043]
[ENSMUST00000051691]
|
| AlphaFold |
O54988 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000026043
AA Change: D760G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000026043
Gene: ENSMUSG00000025060
AA Change: D760G
| 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: D760G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000049977
Gene: ENSMUSG00000025060
AA Change: D760G
| 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: 100.0%
- 3x: 99.7%
- 10x: 98.2%
- 20x: 93.9%
|
| Validation Efficiency |
100% (68/68) |
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy5 |
A |
G |
16: 35,099,607 (GRCm39) |
E719G |
probably damaging |
Het |
| Ankdd1a |
A |
G |
9: 65,424,220 (GRCm39) |
M31T |
possibly damaging |
Het |
| Atp13a5 |
T |
C |
16: 29,070,154 (GRCm39) |
K911E |
possibly damaging |
Het |
| Bpifb3 |
G |
T |
2: 153,766,728 (GRCm39) |
L210F |
probably damaging |
Het |
| Cacna1c |
T |
C |
6: 118,728,334 (GRCm39) |
Y211C |
probably damaging |
Het |
| Carm1 |
C |
A |
9: 21,494,373 (GRCm39) |
P297T |
probably damaging |
Het |
| Cdh19 |
A |
T |
1: 110,852,787 (GRCm39) |
Y383N |
probably benign |
Het |
| Cfap221 |
T |
C |
1: 119,860,583 (GRCm39) |
H681R |
probably damaging |
Het |
| Cmya5 |
A |
C |
13: 93,210,972 (GRCm39) |
S3274A |
possibly damaging |
Het |
| Cndp2 |
T |
A |
18: 84,693,203 (GRCm39) |
K186* |
probably null |
Het |
| Ctdp1 |
G |
T |
18: 80,494,470 (GRCm39) |
F310L |
probably damaging |
Het |
| Cyp2c55 |
A |
T |
19: 39,019,853 (GRCm39) |
I264F |
probably damaging |
Het |
| Dhx40 |
A |
T |
11: 86,664,649 (GRCm39) |
F628I |
probably damaging |
Het |
| Disc1 |
T |
A |
8: 125,862,128 (GRCm39) |
M500K |
possibly damaging |
Het |
| Dnah5 |
A |
C |
15: 28,349,970 (GRCm39) |
D2551A |
possibly damaging |
Het |
| Esyt1 |
A |
G |
10: 128,352,543 (GRCm39) |
|
probably null |
Het |
| Fam78a |
T |
C |
2: 31,972,843 (GRCm39) |
S26G |
probably damaging |
Het |
| Fn1 |
G |
A |
1: 71,687,003 (GRCm39) |
|
probably null |
Het |
| Gbx1 |
T |
C |
5: 24,709,916 (GRCm39) |
T310A |
probably benign |
Het |
| Ggh |
T |
A |
4: 20,042,219 (GRCm39) |
C16S |
unknown |
Het |
| Gm11595 |
T |
A |
11: 99,663,600 (GRCm39) |
T27S |
unknown |
Het |
| Gm17334 |
T |
A |
11: 53,663,564 (GRCm39) |
|
probably benign |
Het |
| Gsk3b |
A |
G |
16: 38,014,311 (GRCm39) |
I256M |
probably damaging |
Het |
| Hmcn1 |
A |
T |
1: 150,620,711 (GRCm39) |
S1166R |
probably benign |
Het |
| Hyou1 |
T |
C |
9: 44,293,322 (GRCm39) |
|
probably null |
Het |
| Jup |
G |
T |
11: 100,265,167 (GRCm39) |
R637S |
probably benign |
Het |
| Lama2 |
T |
A |
10: 26,929,027 (GRCm39) |
I2087F |
possibly damaging |
Het |
| Lamc1 |
T |
G |
1: 153,097,417 (GRCm39) |
K1542N |
probably benign |
Het |
| Lgals4 |
G |
T |
7: 28,540,117 (GRCm39) |
|
|
Het |
| Lrrc8d |
A |
G |
5: 105,959,626 (GRCm39) |
D12G |
probably damaging |
Het |
| Lrwd1 |
C |
T |
5: 136,161,888 (GRCm39) |
V207M |
possibly damaging |
Het |
| Mbd1 |
T |
A |
18: 74,406,762 (GRCm39) |
|
probably null |
Het |
| Msi1 |
T |
A |
5: 115,588,984 (GRCm39) |
I333N |
probably damaging |
Het |
| Neo1 |
C |
T |
9: 58,814,354 (GRCm39) |
V871I |
probably benign |
Het |
| Nr2c1 |
T |
C |
10: 94,024,078 (GRCm39) |
C428R |
probably damaging |
Het |
| Ntm |
A |
G |
9: 29,322,978 (GRCm39) |
L14P |
probably damaging |
Het |
| Nxpe4 |
A |
T |
9: 48,304,145 (GRCm39) |
K77N |
probably damaging |
Het |
| Or1p1c |
A |
C |
11: 74,160,235 (GRCm39) |
T7P |
possibly damaging |
Het |
| Or4c119 |
T |
A |
2: 88,987,505 (GRCm39) |
S5C |
probably damaging |
Het |
| Or4f17-ps1 |
T |
A |
2: 111,358,001 (GRCm39) |
M132K |
probably damaging |
Het |
| Or8g30 |
T |
C |
9: 39,230,074 (GRCm39) |
T279A |
possibly damaging |
Het |
| Or8k18 |
G |
A |
2: 86,085,702 (GRCm39) |
L112F |
probably benign |
Het |
| Pappa |
T |
A |
4: 65,074,701 (GRCm39) |
D418E |
probably damaging |
Het |
| Pde4d |
G |
A |
13: 109,738,320 (GRCm39) |
|
probably null |
Het |
| Pip |
A |
G |
6: 41,828,391 (GRCm39) |
N75S |
possibly damaging |
Het |
| Plcl1 |
G |
C |
1: 55,736,411 (GRCm39) |
R584P |
probably benign |
Het |
| Pnp |
A |
T |
14: 51,188,471 (GRCm39) |
D237V |
probably damaging |
Het |
| Ppp1r12a |
T |
C |
10: 108,098,281 (GRCm39) |
W857R |
probably damaging |
Het |
| Pramel13 |
T |
C |
4: 144,119,653 (GRCm39) |
T305A |
possibly damaging |
Het |
| Ptchd3 |
A |
T |
11: 121,727,229 (GRCm39) |
M368L |
probably benign |
Het |
| Pum1 |
T |
A |
4: 130,501,816 (GRCm39) |
S868R |
probably damaging |
Het |
| R3hdml |
A |
T |
2: 163,344,324 (GRCm39) |
S238C |
probably damaging |
Het |
| Robo2 |
G |
A |
16: 73,843,697 (GRCm39) |
R173* |
probably null |
Het |
| Sall3 |
A |
G |
18: 81,016,402 (GRCm39) |
S509P |
possibly damaging |
Het |
| Sap130 |
T |
G |
18: 31,799,418 (GRCm39) |
H298Q |
possibly damaging |
Het |
| Selenov |
C |
A |
7: 27,987,458 (GRCm39) |
G307C |
probably damaging |
Het |
| Setd2 |
T |
A |
9: 110,379,453 (GRCm39) |
H1089Q |
possibly damaging |
Het |
| Setdb2 |
T |
C |
14: 59,656,505 (GRCm39) |
N287D |
probably damaging |
Het |
| Sis |
C |
T |
3: 72,865,507 (GRCm39) |
V182I |
probably benign |
Het |
| Slc32a1 |
A |
C |
2: 158,453,457 (GRCm39) |
D99A |
probably benign |
Het |
| Smg5 |
T |
A |
3: 88,258,527 (GRCm39) |
D499E |
probably benign |
Het |
| Spata31e2 |
T |
A |
1: 26,723,111 (GRCm39) |
N690Y |
probably benign |
Het |
| Stat3 |
T |
C |
11: 100,780,400 (GRCm39) |
T720A |
possibly damaging |
Het |
| Trdn |
T |
G |
10: 33,015,110 (GRCm39) |
N21K |
probably damaging |
Het |
| Trpm4 |
A |
T |
7: 44,975,992 (GRCm39) |
V118E |
possibly damaging |
Het |
| Vgll3 |
A |
G |
16: 65,612,640 (GRCm39) |
Q41R |
probably damaging |
Het |
| Vmn1r189 |
A |
G |
13: 22,286,525 (GRCm39) |
V104A |
probably damaging |
Het |
| Vmn1r46 |
A |
T |
6: 89,953,389 (GRCm39) |
R79S |
probably benign |
Het |
| Zscan4c |
T |
C |
7: 10,740,856 (GRCm39) |
M125T |
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 |
|
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 |
|
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'- CGTTAAAGCAGAGTCCCAAGC -3'
(R):5'- TATGACCCCAAAAGAGTTAATAGGG -3'
Sequencing Primer
(F):5'- TTAAAGCAGAGTCCCAAGCTCCTG -3'
(R):5'- GTGTTTTAAGGTAGCAATGAAC -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation