Incidental Mutation 'IGL03261:Stkld1'
| ID |
414823 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Stkld1
|
| Ensembl Gene |
ENSMUSG00000049897 |
| Gene Name |
serine/threonine kinase-like domain containing 1 |
| Synonyms |
LOC279029, Gm711 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.062)
|
| Stock # |
IGL03261
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
26824059-26843508 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 26842789 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 587
(H587L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000062967
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055406]
[ENSMUST00000064244]
[ENSMUST00000114020]
[ENSMUST00000136710]
|
| AlphaFold |
Q80YS9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000055406
AA Change: H587L
PolyPhen 2
Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000062967
Gene: ENSMUSG00000049897
AA Change: H587L
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310022A10Rik |
T |
G |
7: 27,279,863 (GRCm39) |
Y281* |
probably null |
Het |
| Adamts3 |
T |
C |
5: 90,030,756 (GRCm39) |
|
probably benign |
Het |
| Afp |
T |
C |
5: 90,639,610 (GRCm39) |
|
probably null |
Het |
| Ap1g2 |
T |
C |
14: 55,337,987 (GRCm39) |
T634A |
probably benign |
Het |
| Cidec |
A |
G |
6: 113,410,133 (GRCm39) |
V32A |
probably benign |
Het |
| Dip2a |
G |
A |
10: 76,140,982 (GRCm39) |
P315S |
possibly damaging |
Het |
| Hoxc11 |
T |
C |
15: 102,863,178 (GRCm39) |
V73A |
probably benign |
Het |
| Jmjd1c |
A |
G |
10: 67,067,849 (GRCm39) |
Y1784C |
probably damaging |
Het |
| Mmp21 |
A |
G |
7: 133,276,403 (GRCm39) |
V480A |
probably benign |
Het |
| Nek4 |
C |
T |
14: 30,697,247 (GRCm39) |
T471I |
probably benign |
Het |
| Nr4a2 |
A |
G |
2: 57,000,199 (GRCm39) |
V299A |
probably benign |
Het |
| Or14j8 |
A |
T |
17: 38,263,697 (GRCm39) |
S73T |
possibly damaging |
Het |
| Or6c5 |
A |
G |
10: 129,074,272 (GRCm39) |
T85A |
possibly damaging |
Het |
| Ptprg |
A |
G |
14: 12,225,552 (GRCm38) |
D505G |
probably damaging |
Het |
| Rag2 |
A |
G |
2: 101,460,608 (GRCm39) |
D306G |
probably damaging |
Het |
| Rpap2 |
T |
A |
5: 107,746,426 (GRCm39) |
S38T |
possibly damaging |
Het |
| Scart2 |
A |
G |
7: 139,874,746 (GRCm39) |
H408R |
probably benign |
Het |
| Scgb2b7 |
A |
T |
7: 31,404,506 (GRCm39) |
C65S |
probably damaging |
Het |
| Slx4ip |
A |
T |
2: 136,888,659 (GRCm39) |
R113S |
probably benign |
Het |
| Smyd5 |
T |
A |
6: 85,409,000 (GRCm39) |
M5K |
probably benign |
Het |
| Taf4b |
A |
G |
18: 14,954,585 (GRCm39) |
T554A |
probably benign |
Het |
| Tex16 |
C |
A |
X: 111,028,552 (GRCm39) |
D350E |
possibly damaging |
Het |
| Tex38 |
T |
C |
4: 115,637,723 (GRCm39) |
K27E |
possibly damaging |
Het |
| Trdv4 |
T |
C |
14: 54,312,875 (GRCm39) |
L83P |
possibly damaging |
Het |
| Ugt2a3 |
G |
A |
5: 87,484,439 (GRCm39) |
P195L |
probably damaging |
Het |
| Vmn1r120 |
A |
G |
7: 20,787,450 (GRCm39) |
L87P |
probably damaging |
Het |
| Zfp236 |
T |
C |
18: 82,648,733 (GRCm39) |
D916G |
possibly damaging |
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 |
|
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 |
|
R2308:Stkld1
|
UTSW |
2 |
26,842,726 (GRCm39) |
missense |
probably damaging |
0.98 |
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation