Incidental Mutation 'R4494:Stkld1'
ID |
330865 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Stkld1
|
Ensembl Gene |
ENSMUSG00000049897 |
Gene Name |
serine/threonine kinase-like domain containing 1 |
Synonyms |
LOC279029, Gm711 |
MMRRC Submission |
041582-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.059)
|
Stock # |
R4494 (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 G
at 26836638 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 268
(N268S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000062967
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055406]
[ENSMUST00000153771]
|
AlphaFold |
Q80YS9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000055406
AA Change: N268S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000062967 Gene: ENSMUSG00000049897 AA Change: N268S
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: ENSMUST00000153771
|
SMART Domains |
Protein: ENSMUSP00000121332 Gene: ENSMUSG00000049897
Domain | Start | End | E-Value | Type |
Pfam:Pkinase
|
4 |
116 |
2.3e-8 |
PFAM |
Pfam:Pkinase_Tyr
|
6 |
115 |
4.6e-6 |
PFAM |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atf7ip |
T |
A |
6: 136,540,747 (GRCm39) |
|
probably null |
Het |
Cacna1b |
T |
C |
2: 24,542,950 (GRCm39) |
T1301A |
probably damaging |
Het |
Calcr |
A |
T |
6: 3,708,484 (GRCm39) |
|
probably null |
Het |
Camsap1 |
T |
C |
2: 25,842,770 (GRCm39) |
D262G |
probably damaging |
Het |
Ccdc141 |
A |
G |
2: 76,962,641 (GRCm39) |
V101A |
probably damaging |
Het |
Ccdc170 |
T |
C |
10: 4,464,128 (GRCm39) |
Y36H |
probably damaging |
Het |
Cd177 |
A |
T |
7: 24,451,428 (GRCm39) |
S492T |
probably benign |
Het |
Chrna4 |
T |
A |
2: 180,670,281 (GRCm39) |
I492F |
probably damaging |
Het |
Cit |
T |
C |
5: 116,012,043 (GRCm39) |
Y217H |
probably damaging |
Het |
Cnbd1 |
T |
A |
4: 19,098,150 (GRCm39) |
D90V |
probably benign |
Het |
Cryba2 |
A |
G |
1: 74,929,789 (GRCm39) |
F116S |
probably damaging |
Het |
Ctbp1 |
T |
C |
5: 33,408,213 (GRCm39) |
T240A |
possibly damaging |
Het |
D130043K22Rik |
C |
T |
13: 25,055,339 (GRCm39) |
S501L |
probably benign |
Het |
Ddhd2 |
A |
G |
8: 26,228,261 (GRCm39) |
F553S |
probably benign |
Het |
Ddr2 |
C |
A |
1: 169,815,983 (GRCm39) |
G575W |
probably damaging |
Het |
Dip2c |
T |
C |
13: 9,621,098 (GRCm39) |
V537A |
possibly damaging |
Het |
Dnah12 |
C |
T |
14: 26,593,812 (GRCm39) |
A752V |
probably damaging |
Het |
Dnah7a |
T |
C |
1: 53,488,197 (GRCm39) |
D3260G |
probably benign |
Het |
Efemp2 |
T |
A |
19: 5,530,339 (GRCm39) |
C309S |
probably damaging |
Het |
Gse1 |
G |
A |
8: 121,297,553 (GRCm39) |
|
probably benign |
Het |
Hspa4l |
T |
C |
3: 40,707,636 (GRCm39) |
S53P |
possibly damaging |
Het |
Ighv5-4 |
T |
C |
12: 113,561,204 (GRCm39) |
D72G |
probably benign |
Het |
Igkv15-103 |
A |
G |
6: 68,414,780 (GRCm39) |
N73S |
probably benign |
Het |
Igsf11 |
T |
G |
16: 38,831,703 (GRCm39) |
N183K |
possibly damaging |
Het |
Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 53,032,934 (GRCm39) |
74 |
probably benign |
Het |
Kcnk18 |
T |
C |
19: 59,223,263 (GRCm39) |
V136A |
probably damaging |
Het |
Krt75 |
A |
T |
15: 101,480,136 (GRCm39) |
Y240* |
probably null |
Het |
Lyst |
G |
A |
13: 13,809,968 (GRCm39) |
R546H |
probably damaging |
Het |
Man2a2 |
C |
T |
7: 80,009,023 (GRCm39) |
|
probably null |
Het |
Mme |
A |
G |
3: 63,254,613 (GRCm39) |
N491S |
probably benign |
Het |
Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
Msi2 |
T |
C |
11: 88,608,185 (GRCm39) |
D39G |
possibly damaging |
Het |
Naa60 |
T |
A |
16: 3,718,585 (GRCm39) |
C122* |
probably null |
Het |
Nes |
A |
G |
3: 87,884,120 (GRCm39) |
E793G |
probably damaging |
Het |
Nfkb2 |
A |
G |
19: 46,296,878 (GRCm39) |
D316G |
probably damaging |
Het |
Nme6 |
C |
T |
9: 109,671,122 (GRCm39) |
L121F |
probably damaging |
Het |
Or4k47 |
T |
A |
2: 111,451,493 (GRCm39) |
K309* |
probably null |
Het |
Otud1 |
C |
T |
2: 19,664,146 (GRCm39) |
T425I |
probably damaging |
Het |
Pimreg |
T |
C |
11: 71,935,964 (GRCm39) |
V149A |
probably benign |
Het |
Plbd1 |
T |
C |
6: 136,590,856 (GRCm39) |
I437V |
probably damaging |
Het |
Prlhr |
A |
T |
19: 60,455,519 (GRCm39) |
M349K |
probably benign |
Het |
Slc1a3 |
G |
A |
15: 8,668,579 (GRCm39) |
T462I |
probably damaging |
Het |
Slc25a26 |
A |
G |
6: 94,575,384 (GRCm39) |
T198A |
probably damaging |
Het |
Svop |
T |
C |
5: 114,183,688 (GRCm39) |
T195A |
probably damaging |
Het |
Syt6 |
A |
G |
3: 103,492,946 (GRCm39) |
E66G |
probably damaging |
Het |
Tas2r129 |
A |
G |
6: 132,928,317 (GRCm39) |
I85V |
probably benign |
Het |
Tent5a |
A |
G |
9: 85,207,100 (GRCm39) |
S233P |
probably damaging |
Het |
Tprn |
T |
C |
2: 25,158,904 (GRCm39) |
S643P |
probably damaging |
Het |
Ush2a |
C |
T |
1: 188,285,473 (GRCm39) |
T2003I |
possibly damaging |
Het |
Vmn2r17 |
T |
A |
5: 109,576,335 (GRCm39) |
V402E |
probably damaging |
Het |
Vmn2r3 |
C |
G |
3: 64,182,692 (GRCm39) |
G336R |
probably damaging |
Het |
Wdr89 |
A |
T |
12: 75,679,521 (GRCm39) |
D244E |
probably 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 |
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 |
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'- AGGGAGTCCTGTGATTTCAGAG -3'
(R):5'- CATCTGAAACTAGTGCCAAGGCC -3'
Sequencing Primer
(F):5'- AGTCCTGTGATTTCAGAGTAGAG -3'
(R):5'- TAGTGCCAAGGCCGGTCAC -3'
|
Posted On |
2015-07-21 |