Incidental Mutation 'IGL01607:Stk38l'
| ID |
92310 |
| 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: 0.722)
|
| Stock # |
IGL01607
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
146626493-146680310 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 146673725 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107271
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001675]
[ENSMUST00000111644]
|
| AlphaFold |
Q7TSE6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000001675
|
| SMART Domains |
Protein: ENSMUSP00000001675
Gene: ENSMUSG00000001630
| 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 benign
Transcript: ENSMUST00000111644
|
| SMART Domains |
Protein: ENSMUSP00000107271
Gene: ENSMUSG00000001630
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
90 |
383 |
5.62e-100 |
SMART |
|
S_TK_X
|
384 |
452 |
3.66e-1 |
SMART |
|
| 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: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsl6 |
A |
G |
11: 54,243,823 (GRCm39) |
K556E |
possibly damaging |
Het |
| Adgre4 |
A |
C |
17: 56,101,748 (GRCm39) |
|
probably benign |
Het |
| Ajap1 |
C |
T |
4: 153,516,736 (GRCm39) |
G202S |
probably damaging |
Het |
| Catsperb |
G |
T |
12: 101,446,985 (GRCm39) |
|
probably benign |
Het |
| Ccdc178 |
T |
A |
18: 22,200,778 (GRCm39) |
D393V |
probably benign |
Het |
| Cfap74 |
A |
G |
4: 155,503,443 (GRCm39) |
T95A |
possibly damaging |
Het |
| Dis3l2 |
A |
G |
1: 86,673,209 (GRCm39) |
T67A |
probably benign |
Het |
| Dnaja3 |
T |
C |
16: 4,511,259 (GRCm39) |
F205L |
probably damaging |
Het |
| Dsc1 |
C |
T |
18: 20,222,720 (GRCm39) |
C584Y |
probably damaging |
Het |
| Duox2 |
C |
A |
2: 122,122,800 (GRCm39) |
V545L |
probably benign |
Het |
| Etaa1 |
A |
G |
11: 17,903,637 (GRCm39) |
L53P |
probably benign |
Het |
| Gm14184 |
C |
T |
11: 99,590,490 (GRCm39) |
C4Y |
unknown |
Het |
| Inpp4b |
C |
T |
8: 82,737,292 (GRCm39) |
A563V |
probably benign |
Het |
| Kcnc3 |
A |
G |
7: 44,240,728 (GRCm39) |
D140G |
probably damaging |
Het |
| Ly6a |
A |
T |
15: 74,867,262 (GRCm39) |
M85K |
probably benign |
Het |
| Map4k2 |
C |
T |
19: 6,395,623 (GRCm39) |
|
probably null |
Het |
| Mttp |
T |
C |
3: 137,810,459 (GRCm39) |
Y652C |
probably damaging |
Het |
| Neu1 |
A |
T |
17: 35,153,692 (GRCm39) |
N372I |
probably benign |
Het |
| Nuak2 |
G |
A |
1: 132,255,878 (GRCm39) |
V184I |
probably damaging |
Het |
| Phf11a |
T |
C |
14: 59,524,950 (GRCm39) |
I85V |
probably damaging |
Het |
| Polr2e |
C |
A |
10: 79,875,467 (GRCm39) |
D3Y |
probably damaging |
Het |
| Ralb |
A |
G |
1: 119,411,279 (GRCm39) |
V20A |
probably damaging |
Het |
| Rln1 |
A |
T |
19: 29,309,260 (GRCm39) |
V173D |
probably benign |
Het |
| Tjp1 |
G |
T |
7: 64,985,926 (GRCm39) |
D288E |
possibly damaging |
Het |
| Trpm3 |
A |
G |
19: 22,964,491 (GRCm39) |
I1319V |
probably benign |
Het |
| Zic2 |
T |
G |
14: 122,716,294 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Stk38l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00225:Stk38l
|
APN |
6 |
146,659,971 (GRCm39) |
start codon destroyed |
probably null |
0.05 |
|
IGL00976:Stk38l
|
APN |
6 |
146,676,900 (GRCm39) |
missense |
probably benign |
0.37 |
|
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 |
2013-12-09 |
Incidental Mutation