Incidental Mutation 'R4257:Stkld1'
| ID |
321847 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Stkld1
|
| Ensembl Gene |
ENSMUSG00000049897 |
| Gene Name |
serine/threonine kinase-like domain containing 1 |
| Synonyms |
LOC279029, Gm711 |
| MMRRC Submission |
041070-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.059)
|
| Stock # |
R4257 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
26824059-26843508 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 26833146 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 111
(M111V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121332
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055406]
[ENSMUST00000153771]
|
| AlphaFold |
Q80YS9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000055406
AA Change: M103V
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000062967
Gene: ENSMUSG00000049897
AA Change: M103V
| 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
AA Change: M111V
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000121332
Gene: ENSMUSG00000049897
AA Change: M111V
| 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 |
0.0738 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
100% (39/39) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930451I11Rik |
C |
T |
7: 126,430,662 (GRCm39) |
|
probably benign |
Het |
| 4930578I06Rik |
C |
T |
14: 64,210,658 (GRCm39) |
R190H |
probably benign |
Het |
| Akap13 |
T |
A |
7: 75,261,033 (GRCm39) |
I1219K |
probably damaging |
Het |
| Arfgef1 |
T |
C |
1: 10,229,771 (GRCm39) |
|
probably benign |
Het |
| Arhgap24 |
A |
G |
5: 102,811,983 (GRCm39) |
E70G |
probably benign |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| Babam2 |
T |
C |
5: 31,859,414 (GRCm39) |
S40P |
possibly damaging |
Het |
| Brwd1 |
A |
G |
16: 95,824,696 (GRCm39) |
V1190A |
probably damaging |
Het |
| Ccpg1 |
A |
G |
9: 72,919,909 (GRCm39) |
E508G |
probably damaging |
Het |
| Ckm |
T |
C |
7: 19,155,279 (GRCm39) |
S372P |
probably benign |
Het |
| Egflam |
T |
A |
15: 7,283,907 (GRCm39) |
|
probably null |
Het |
| Farp1 |
G |
A |
14: 121,492,891 (GRCm39) |
V498M |
probably benign |
Het |
| Galnt14 |
T |
A |
17: 73,811,899 (GRCm39) |
I441F |
probably benign |
Het |
| Gm5414 |
A |
G |
15: 101,533,107 (GRCm39) |
L440P |
probably damaging |
Het |
| Gm6563 |
A |
G |
19: 23,653,339 (GRCm39) |
E43G |
possibly damaging |
Het |
| Gm9755 |
A |
T |
8: 67,967,129 (GRCm39) |
|
noncoding transcript |
Het |
| Gmds |
A |
G |
13: 32,004,172 (GRCm39) |
S337P |
possibly damaging |
Het |
| L3mbtl3 |
T |
A |
10: 26,156,020 (GRCm39) |
Q754L |
unknown |
Het |
| Ltk |
G |
A |
2: 119,583,485 (GRCm39) |
T300I |
possibly damaging |
Het |
| Or5d46 |
A |
C |
2: 88,170,621 (GRCm39) |
K237N |
probably damaging |
Het |
| Pbx2 |
C |
A |
17: 34,813,619 (GRCm39) |
H184Q |
probably damaging |
Het |
| Plxna2 |
T |
C |
1: 194,327,083 (GRCm39) |
F339S |
probably damaging |
Het |
| Prkaa2 |
A |
T |
4: 104,897,153 (GRCm39) |
D353E |
probably benign |
Het |
| Prss36 |
G |
A |
7: 127,532,010 (GRCm39) |
|
probably benign |
Het |
| Rimbp2 |
A |
G |
5: 128,851,324 (GRCm39) |
V874A |
probably damaging |
Het |
| Rspo2 |
C |
A |
15: 42,939,307 (GRCm39) |
R161L |
probably benign |
Het |
| Ryr1 |
T |
C |
7: 28,781,875 (GRCm39) |
D2038G |
possibly damaging |
Het |
| Tprn |
A |
G |
2: 25,154,494 (GRCm39) |
I599V |
probably damaging |
Het |
| Upp2 |
A |
T |
2: 58,670,106 (GRCm39) |
I219F |
probably damaging |
Het |
| Vmn2r94 |
A |
T |
17: 18,464,433 (GRCm39) |
F619Y |
probably damaging |
Het |
| Xirp2 |
A |
G |
2: 67,346,383 (GRCm39) |
T2875A |
probably benign |
Het |
| Zfp64 |
A |
G |
2: 168,768,298 (GRCm39) |
L438P |
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 |
|
|
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'- CTATAGGCACTTCAGGGGCTTC -3'
(R):5'- CCCTGTTCTCTTAGCCAAGAATG -3'
Sequencing Primer
(F):5'- CTTCAGCATTAGTAGTGCCCATAGG -3'
(R):5'- TGGGAGTTCACAGAAGATGCCC -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation