Incidental Mutation 'R2308:Stkld1'
ID |
244666 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Stkld1
|
Ensembl Gene |
ENSMUSG00000049897 |
Gene Name |
serine/threonine kinase-like domain containing 1 |
Synonyms |
LOC279029, Gm711 |
MMRRC Submission |
040307-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.059)
|
Stock # |
R2308 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
26824059-26843508 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 26842726 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Valine
at position 566
(D566V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000062967
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055406]
[ENSMUST00000064244]
[ENSMUST00000114020]
[ENSMUST00000136710]
|
AlphaFold |
Q80YS9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000055406
AA Change: D566V
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000062967 Gene: ENSMUSG00000049897 AA Change: D566V
Domain | Start | End | E-Value | Type |
Pfam:Pkinase
|
3 |
266 |
8e-35 |
PFAM |
Pfam:Pkinase_Tyr
|
7 |
262 |
4.5e-27 |
PFAM |
low complexity region
|
352 |
366 |
N/A |
INTRINSIC |
low complexity region
|
446 |
456 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000064244
|
SMART Domains |
Protein: ENSMUSP00000070815 Gene: ENSMUSG00000052406
Domain | Start | End | E-Value | Type |
low complexity region
|
16 |
34 |
N/A |
INTRINSIC |
low complexity region
|
180 |
197 |
N/A |
INTRINSIC |
EXOIII
|
229 |
390 |
2.55e-43 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000114020
|
SMART Domains |
Protein: ENSMUSP00000109653 Gene: ENSMUSG00000052406
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
16 |
N/A |
INTRINSIC |
low complexity region
|
39 |
57 |
N/A |
INTRINSIC |
low complexity region
|
203 |
220 |
N/A |
INTRINSIC |
EXOIII
|
252 |
413 |
2.55e-43 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123126
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135752
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000136710
|
SMART Domains |
Protein: ENSMUSP00000121599 Gene: ENSMUSG00000052406
Domain | Start | End | E-Value | Type |
low complexity region
|
16 |
34 |
N/A |
INTRINSIC |
low complexity region
|
180 |
197 |
N/A |
INTRINSIC |
EXOIII
|
229 |
363 |
1.57e-20 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139635
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145546
|
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.6%
- 10x: 96.9%
- 20x: 93.3%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 25 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Depdc1b |
G |
A |
13: 108,510,375 (GRCm39) |
V296I |
possibly damaging |
Het |
Dot1l |
T |
C |
10: 80,624,903 (GRCm39) |
S907P |
probably damaging |
Het |
Epha7 |
G |
A |
4: 28,821,503 (GRCm39) |
E223K |
possibly damaging |
Het |
Ercc6 |
T |
C |
14: 32,288,366 (GRCm39) |
I846T |
possibly damaging |
Het |
Exoc4 |
A |
G |
6: 33,895,503 (GRCm39) |
Y840C |
probably damaging |
Het |
Gramd1a |
T |
C |
7: 30,839,215 (GRCm39) |
D231G |
probably damaging |
Het |
Mark2 |
A |
C |
19: 7,259,299 (GRCm39) |
S90A |
probably damaging |
Het |
Mbd1 |
A |
G |
18: 74,409,548 (GRCm39) |
Q432R |
probably benign |
Het |
Mcm2 |
G |
A |
6: 88,869,990 (GRCm39) |
R60C |
probably damaging |
Het |
Met |
T |
C |
6: 17,491,741 (GRCm39) |
S168P |
probably benign |
Het |
Nup210 |
T |
C |
6: 91,017,850 (GRCm39) |
I304V |
probably benign |
Het |
Or1ak2 |
T |
A |
2: 36,827,312 (GRCm39) |
Y60* |
probably null |
Het |
Or4a27 |
T |
A |
2: 88,559,428 (GRCm39) |
I172F |
probably damaging |
Het |
Ppfia4 |
A |
G |
1: 134,260,135 (GRCm39) |
S43P |
possibly damaging |
Het |
Rbbp8 |
A |
T |
18: 11,829,833 (GRCm39) |
K132I |
possibly damaging |
Het |
Rpap1 |
G |
A |
2: 119,614,247 (GRCm39) |
P50L |
probably benign |
Het |
Slc41a3 |
T |
A |
6: 90,589,102 (GRCm39) |
I71K |
possibly damaging |
Het |
Spaca7 |
A |
T |
8: 12,648,959 (GRCm39) |
N127I |
probably benign |
Het |
Tbxas1 |
A |
G |
6: 39,004,595 (GRCm39) |
M281V |
probably benign |
Het |
Txnl1 |
T |
C |
18: 63,804,691 (GRCm39) |
T268A |
probably benign |
Het |
Unc80 |
A |
T |
1: 66,688,156 (GRCm39) |
I2385F |
possibly damaging |
Het |
Vmn2r118 |
A |
G |
17: 55,931,650 (GRCm39) |
I8T |
probably benign |
Het |
Vmn2r80 |
T |
C |
10: 79,007,455 (GRCm39) |
F477S |
probably damaging |
Het |
Ythdc2 |
A |
G |
18: 44,980,815 (GRCm39) |
E470G |
possibly damaging |
Het |
Zfp352 |
A |
G |
4: 90,113,480 (GRCm39) |
K540R |
probably benign |
Het |
|
Other mutations in Stkld1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01128:Stkld1
|
APN |
2 |
26,841,483 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02183:Stkld1
|
APN |
2 |
26,836,671 (GRCm39) |
missense |
probably benign |
0.04 |
IGL02393:Stkld1
|
APN |
2 |
26,840,154 (GRCm39) |
missense |
probably benign |
0.41 |
IGL03136:Stkld1
|
APN |
2 |
26,841,435 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03261:Stkld1
|
APN |
2 |
26,842,789 (GRCm39) |
missense |
probably benign |
0.21 |
R0067:Stkld1
|
UTSW |
2 |
26,839,352 (GRCm39) |
missense |
probably benign |
0.01 |
R0067:Stkld1
|
UTSW |
2 |
26,839,352 (GRCm39) |
missense |
probably benign |
0.01 |
R0973:Stkld1
|
UTSW |
2 |
26,841,462 (GRCm39) |
missense |
probably benign |
0.00 |
R1065:Stkld1
|
UTSW |
2 |
26,830,050 (GRCm39) |
missense |
probably damaging |
0.97 |
R1467:Stkld1
|
UTSW |
2 |
26,839,407 (GRCm39) |
missense |
probably benign |
0.00 |
R1467:Stkld1
|
UTSW |
2 |
26,839,407 (GRCm39) |
missense |
probably benign |
0.00 |
R1565:Stkld1
|
UTSW |
2 |
26,840,102 (GRCm39) |
missense |
probably benign |
0.00 |
R1844:Stkld1
|
UTSW |
2 |
26,840,115 (GRCm39) |
missense |
probably damaging |
1.00 |
R1871:Stkld1
|
UTSW |
2 |
26,827,985 (GRCm39) |
unclassified |
probably benign |
|
R1965:Stkld1
|
UTSW |
2 |
26,836,744 (GRCm39) |
splice site |
probably null |
|
R2001:Stkld1
|
UTSW |
2 |
26,842,759 (GRCm39) |
missense |
probably damaging |
1.00 |
R2566:Stkld1
|
UTSW |
2 |
26,840,650 (GRCm39) |
missense |
probably damaging |
1.00 |
R3929:Stkld1
|
UTSW |
2 |
26,830,059 (GRCm39) |
critical splice donor site |
probably null |
|
R4257:Stkld1
|
UTSW |
2 |
26,833,146 (GRCm39) |
missense |
probably benign |
0.02 |
R4493:Stkld1
|
UTSW |
2 |
26,836,638 (GRCm39) |
missense |
probably benign |
0.00 |
R4494:Stkld1
|
UTSW |
2 |
26,836,638 (GRCm39) |
missense |
probably benign |
0.00 |
R4589:Stkld1
|
UTSW |
2 |
26,840,679 (GRCm39) |
missense |
probably damaging |
1.00 |
R4775:Stkld1
|
UTSW |
2 |
26,841,757 (GRCm39) |
missense |
probably damaging |
0.99 |
R5601:Stkld1
|
UTSW |
2 |
26,842,717 (GRCm39) |
missense |
probably damaging |
1.00 |
R5707:Stkld1
|
UTSW |
2 |
26,833,999 (GRCm39) |
missense |
probably damaging |
1.00 |
R6259:Stkld1
|
UTSW |
2 |
26,839,393 (GRCm39) |
missense |
possibly damaging |
0.70 |
R6306:Stkld1
|
UTSW |
2 |
26,833,899 (GRCm39) |
missense |
probably damaging |
0.98 |
R6349:Stkld1
|
UTSW |
2 |
26,835,872 (GRCm39) |
missense |
probably benign |
0.00 |
R6418:Stkld1
|
UTSW |
2 |
26,831,093 (GRCm39) |
missense |
possibly damaging |
0.47 |
R6806:Stkld1
|
UTSW |
2 |
26,833,922 (GRCm39) |
missense |
probably benign |
0.01 |
R7079:Stkld1
|
UTSW |
2 |
26,839,359 (GRCm39) |
missense |
probably benign |
0.00 |
R7199:Stkld1
|
UTSW |
2 |
26,842,726 (GRCm39) |
missense |
probably damaging |
0.98 |
R7522:Stkld1
|
UTSW |
2 |
26,837,259 (GRCm39) |
missense |
probably benign |
0.13 |
R7556:Stkld1
|
UTSW |
2 |
26,837,307 (GRCm39) |
missense |
possibly damaging |
0.74 |
R7813:Stkld1
|
UTSW |
2 |
26,835,888 (GRCm39) |
nonsense |
probably null |
|
R8165:Stkld1
|
UTSW |
2 |
26,836,668 (GRCm39) |
missense |
probably benign |
0.01 |
R8330:Stkld1
|
UTSW |
2 |
26,841,515 (GRCm39) |
missense |
probably benign |
0.00 |
R8709:Stkld1
|
UTSW |
2 |
26,835,817 (GRCm39) |
missense |
probably benign |
0.03 |
R8935:Stkld1
|
UTSW |
2 |
26,833,941 (GRCm39) |
nonsense |
probably null |
|
R9137:Stkld1
|
UTSW |
2 |
26,840,572 (GRCm39) |
missense |
probably benign |
0.00 |
R9599:Stkld1
|
UTSW |
2 |
26,843,297 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
Predicted Primers |
PCR Primer
(F):5'- AACCAGTCATGCTACTTCCCG -3'
(R):5'- ATGGTGAGGCTAAGGATACCCG -3'
Sequencing Primer
(F):5'- TACTTCCCGGGGACACTGAG -3'
(R):5'- TTACGGTGCCACTGACTCAGAG -3'
|
Posted On |
2014-10-30 |