Incidental Mutation 'IGL00225:Stk38l'
| ID |
2367 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Stk38l
|
| Ensembl Gene |
ENSMUSG00000001630 |
| Gene Name |
serine/threonine kinase 38 like |
| Synonyms |
Ndr2, 4930473A22Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.664)
|
| Stock # |
IGL00225
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
146626493-146680310 bp(+) (GRCm39) |
| Type of Mutation |
start codon destroyed |
| DNA Base Change (assembly) |
T to A
at 146659971 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 1
(M1K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107271
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001675]
[ENSMUST00000111644]
[ENSMUST00000203318]
|
| AlphaFold |
Q7TSE6 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000001675
AA Change: M1K
PolyPhen 2
Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000001675
Gene: ENSMUSG00000001630
AA Change: M1K
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
90 |
383 |
5.62e-100 |
SMART |
|
S_TK_X
|
384 |
445 |
2.88e-2 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000111644
AA Change: M1K
PolyPhen 2
Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000107271
Gene: ENSMUSG00000001630
AA Change: M1K
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
90 |
383 |
5.62e-100 |
SMART |
|
S_TK_X
|
384 |
452 |
3.66e-1 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203084
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000203318
AA Change: M1K
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygous gene-trapped mice exhibit premature dendritic branching of CA3 pyramidal neurons. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Flii |
T |
C |
11: 60,614,241 (GRCm39) |
N93D |
probably benign |
Het |
| Gm8356 |
T |
C |
14: 17,693,287 (GRCm39) |
K24E |
probably damaging |
Het |
| Hars1 |
G |
A |
18: 36,901,225 (GRCm39) |
T409M |
probably damaging |
Het |
| Ivns1abp |
A |
G |
1: 151,226,863 (GRCm39) |
|
probably null |
Het |
| Kcnq4 |
G |
A |
4: 120,555,213 (GRCm39) |
Q657* |
probably null |
Het |
| Kdm4c |
T |
G |
4: 74,263,804 (GRCm39) |
V696G |
probably benign |
Het |
| Klrb1f |
T |
A |
6: 129,030,138 (GRCm39) |
|
probably benign |
Het |
| Lrp4 |
G |
A |
2: 91,325,371 (GRCm39) |
V1399I |
probably benign |
Het |
| LTO1 |
G |
A |
7: 144,471,405 (GRCm39) |
G86D |
possibly damaging |
Het |
| Mki67 |
A |
G |
7: 135,291,849 (GRCm39) |
V3168A |
probably benign |
Het |
| Nf1 |
T |
A |
11: 79,286,731 (GRCm39) |
I177K |
probably damaging |
Het |
| Nnt |
A |
T |
13: 119,506,533 (GRCm39) |
N371K |
probably damaging |
Het |
| Or13a27 |
A |
G |
7: 139,925,123 (GRCm39) |
Y260H |
probably damaging |
Het |
| Or5p52 |
C |
T |
7: 107,502,311 (GRCm39) |
P129L |
probably damaging |
Het |
| Prkdc |
G |
T |
16: 15,627,508 (GRCm39) |
V3389L |
possibly damaging |
Het |
| Prr16 |
T |
A |
18: 51,436,192 (GRCm39) |
Y224N |
possibly damaging |
Het |
| Ptgs1 |
G |
A |
2: 36,127,231 (GRCm39) |
C39Y |
probably damaging |
Het |
| Sla |
T |
C |
15: 66,654,479 (GRCm39) |
D269G |
possibly damaging |
Het |
| Trim24 |
T |
A |
6: 37,880,583 (GRCm39) |
N160K |
possibly damaging |
Het |
| Zfp451 |
A |
G |
1: 33,825,621 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Stk38l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00976:Stk38l
|
APN |
6 |
146,676,900 (GRCm39) |
missense |
probably benign |
0.37 |
|
IGL01607:Stk38l
|
APN |
6 |
146,673,725 (GRCm39) |
splice site |
probably benign |
|
|
IGL01607:Stk38l
|
APN |
6 |
146,673,152 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02552:Stk38l
|
APN |
6 |
146,669,031 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02582:Stk38l
|
APN |
6 |
146,668,321 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03036:Stk38l
|
APN |
6 |
146,670,372 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0445:Stk38l
|
UTSW |
6 |
146,677,184 (GRCm39) |
missense |
probably benign |
|
|
R1518:Stk38l
|
UTSW |
6 |
146,673,129 (GRCm39) |
missense |
probably benign |
0.09 |
|
R2117:Stk38l
|
UTSW |
6 |
146,670,344 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5297:Stk38l
|
UTSW |
6 |
146,677,153 (GRCm39) |
nonsense |
probably null |
|
|
R5602:Stk38l
|
UTSW |
6 |
146,659,998 (GRCm39) |
missense |
probably benign |
0.39 |
|
R5652:Stk38l
|
UTSW |
6 |
146,674,826 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6830:Stk38l
|
UTSW |
6 |
146,668,269 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7572:Stk38l
|
UTSW |
6 |
146,677,152 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8028:Stk38l
|
UTSW |
6 |
146,674,881 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8120:Stk38l
|
UTSW |
6 |
146,660,099 (GRCm39) |
missense |
probably benign |
|
|
R8142:Stk38l
|
UTSW |
6 |
146,660,070 (GRCm39) |
missense |
probably benign |
0.33 |
|
R8483:Stk38l
|
UTSW |
6 |
146,660,017 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R9153:Stk38l
|
UTSW |
6 |
146,660,048 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9706:Stk38l
|
UTSW |
6 |
146,677,104 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2011-12-09 |
Incidental Mutation