Incidental Mutation 'R0067:Stkld1'
ID |
17300 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Stkld1
|
Ensembl Gene |
ENSMUSG00000049897 |
Gene Name |
serine/threonine kinase-like domain containing 1 |
Synonyms |
LOC279029, Gm711 |
MMRRC Submission |
038358-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.059)
|
Stock # |
R0067 (G1)
|
Quality Score |
|
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
26824059-26843508 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 26839352 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 339
(E339D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000062967
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055406]
[ENSMUST00000064244]
[ENSMUST00000114020]
|
AlphaFold |
Q80YS9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000055406
AA Change: E339D
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000062967 Gene: ENSMUSG00000049897 AA Change: E339D
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
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 87.3%
- 3x: 82.3%
- 10x: 64.1%
- 20x: 35.8%
|
Validation Efficiency |
96% (73/76) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actn4 |
C |
T |
7: 28,610,995 (GRCm39) |
V248M |
possibly damaging |
Het |
AW209491 |
A |
T |
13: 14,812,328 (GRCm39) |
I394F |
probably benign |
Het |
Cacna1d |
A |
T |
14: 29,796,967 (GRCm39) |
|
probably benign |
Het |
Cacna1i |
A |
T |
15: 80,265,373 (GRCm39) |
I1542F |
probably damaging |
Het |
Cep97 |
A |
T |
16: 55,735,924 (GRCm39) |
N291K |
possibly damaging |
Het |
Clasp2 |
A |
T |
9: 113,689,209 (GRCm39) |
|
probably benign |
Het |
Dennd1c |
T |
C |
17: 57,382,465 (GRCm39) |
Q67R |
probably damaging |
Het |
Eva1c |
A |
T |
16: 90,663,305 (GRCm39) |
D13V |
possibly damaging |
Het |
Fam151b |
T |
C |
13: 92,610,504 (GRCm39) |
K95R |
probably benign |
Het |
Gm13941 |
T |
C |
2: 110,889,761 (GRCm39) |
|
noncoding transcript |
Het |
Gps2 |
C |
T |
11: 69,805,607 (GRCm39) |
Q42* |
probably null |
Het |
Hivep1 |
T |
A |
13: 42,312,132 (GRCm39) |
D1457E |
probably benign |
Het |
L3mbtl1 |
A |
G |
2: 162,790,748 (GRCm39) |
K225E |
probably damaging |
Het |
Limch1 |
A |
G |
5: 67,131,965 (GRCm39) |
S143G |
probably damaging |
Het |
Macf1 |
T |
C |
4: 123,369,041 (GRCm39) |
K342E |
possibly damaging |
Het |
Mc5r |
T |
G |
18: 68,472,637 (GRCm39) |
M332R |
probably damaging |
Het |
Mcf2l |
A |
G |
8: 13,063,060 (GRCm39) |
T882A |
probably benign |
Het |
Mtrex |
C |
T |
13: 113,023,396 (GRCm39) |
V727I |
probably benign |
Het |
Myf6 |
A |
T |
10: 107,329,340 (GRCm39) |
|
probably null |
Het |
Plekha5 |
C |
T |
6: 140,470,629 (GRCm39) |
T90I |
probably damaging |
Het |
Ptbp2 |
T |
C |
3: 119,514,290 (GRCm39) |
T478A |
probably benign |
Het |
Rasgrp1 |
C |
A |
2: 117,125,301 (GRCm39) |
R246S |
probably damaging |
Het |
Rflnb |
A |
T |
11: 75,912,987 (GRCm39) |
S134T |
possibly damaging |
Het |
Rnf214 |
A |
G |
9: 45,778,796 (GRCm39) |
|
probably null |
Het |
Satb1 |
T |
C |
17: 52,111,364 (GRCm39) |
T165A |
probably damaging |
Het |
Scamp1 |
T |
C |
13: 94,340,658 (GRCm39) |
Y237C |
probably damaging |
Het |
Skint10 |
A |
T |
4: 112,568,753 (GRCm39) |
F321L |
probably benign |
Het |
Slc8a1 |
A |
G |
17: 81,745,188 (GRCm39) |
V672A |
probably benign |
Het |
Spats2 |
C |
A |
15: 99,110,168 (GRCm39) |
P522T |
possibly damaging |
Het |
Tbc1d9 |
A |
G |
8: 83,960,872 (GRCm39) |
T241A |
probably damaging |
Het |
Ticrr |
A |
T |
7: 79,327,158 (GRCm39) |
D622V |
probably damaging |
Het |
Trmt1l |
T |
C |
1: 151,324,131 (GRCm39) |
V326A |
probably benign |
Het |
Ube3c |
A |
G |
5: 29,803,936 (GRCm39) |
T180A |
possibly damaging |
Het |
Unc13a |
A |
C |
8: 72,087,302 (GRCm39) |
F1482V |
probably damaging |
Het |
Unc79 |
A |
G |
12: 103,025,777 (GRCm39) |
E388G |
probably damaging |
Het |
Ush2a |
A |
T |
1: 188,697,043 (GRCm39) |
D5167V |
probably damaging |
Het |
Vmn2r93 |
A |
T |
17: 18,546,672 (GRCm39) |
H848L |
probably benign |
Het |
Zcchc9 |
T |
C |
13: 91,945,368 (GRCm39) |
I72V |
probably benign |
Het |
Zfc3h1 |
G |
T |
10: 115,259,379 (GRCm39) |
L1650F |
possibly damaging |
Het |
Zzz3 |
A |
G |
3: 152,134,040 (GRCm39) |
D366G |
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 |
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 |
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 |
2013-01-20 |