Incidental Mutation 'R6610:Stk32b'
ID |
525882 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Stk32b
|
Ensembl Gene |
ENSMUSG00000029123 |
Gene Name |
serine/threonine kinase 32B |
Synonyms |
Stk32, 2510009F08Rik, YANK2, STKG6 |
MMRRC Submission |
044733-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.087)
|
Stock # |
R6610 (G1)
|
Quality Score |
222.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
37604169-37874503 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 37606022 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 407
(T407I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000092432
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094836]
|
AlphaFold |
Q9JJX8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000094836
AA Change: T407I
PolyPhen 2
Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000092432 Gene: ENSMUSG00000029123 AA Change: T407I
Domain | Start | End | E-Value | Type |
S_TKc
|
23 |
283 |
1.18e-84 |
SMART |
low complexity region
|
323 |
336 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.0683 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.8%
|
Validation Efficiency |
100% (42/42) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a serine-threonine protein kinase. Serine-threonine kinases transfer phosphate molecules to the oxygen atoms of serine and threonine. A genomic deletion affecting this gene has been associated with Ellis-van Creveld syndrome, an autosomal recessive skeletal dysplasia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
AB124611 |
A |
T |
9: 21,437,561 (GRCm39) |
M1L |
probably benign |
Het |
Adam26b |
T |
C |
8: 43,974,190 (GRCm39) |
K271E |
probably damaging |
Het |
Ankrd44 |
A |
G |
1: 54,694,246 (GRCm39) |
I914T |
probably benign |
Het |
Atp12a |
A |
G |
14: 56,612,013 (GRCm39) |
R396G |
probably damaging |
Het |
C2cd3 |
A |
G |
7: 100,104,505 (GRCm39) |
K2173E |
probably benign |
Het |
Cbx2 |
A |
G |
11: 118,915,036 (GRCm39) |
D51G |
probably damaging |
Het |
Ccdc33 |
T |
A |
9: 57,976,419 (GRCm39) |
T532S |
possibly damaging |
Het |
Ccnt1 |
T |
C |
15: 98,462,982 (GRCm39) |
I63M |
probably damaging |
Het |
Cdc20b |
C |
T |
13: 113,200,796 (GRCm39) |
T172I |
probably benign |
Het |
Cep20 |
TTGTG |
TTG |
16: 14,118,009 (GRCm39) |
|
probably null |
Het |
Ces2f |
T |
G |
8: 105,676,738 (GRCm39) |
|
probably null |
Het |
Cfh |
A |
T |
1: 140,029,486 (GRCm39) |
C597* |
probably null |
Het |
Cntnap2 |
A |
T |
6: 45,992,191 (GRCm39) |
T373S |
probably benign |
Het |
Cyb5r4 |
T |
G |
9: 86,941,470 (GRCm39) |
C64G |
probably benign |
Het |
Cyp2c23 |
A |
G |
19: 43,995,520 (GRCm39) |
F416L |
probably damaging |
Het |
Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
Eif4e1b |
A |
G |
13: 54,932,128 (GRCm39) |
|
probably benign |
Het |
Elp1 |
A |
G |
4: 56,758,236 (GRCm39) |
V1227A |
probably benign |
Het |
Etl4 |
G |
A |
2: 20,718,180 (GRCm39) |
R256K |
probably damaging |
Het |
Fhad1 |
A |
G |
4: 141,643,707 (GRCm39) |
L1054P |
possibly damaging |
Het |
Grik1 |
A |
G |
16: 87,831,200 (GRCm39) |
I190T |
probably damaging |
Het |
Gsdmc2 |
T |
C |
15: 63,696,857 (GRCm39) |
N438S |
probably benign |
Het |
Igkv15-103 |
A |
T |
6: 68,414,617 (GRCm39) |
R19* |
probably null |
Het |
Kcnc2 |
G |
C |
10: 112,107,761 (GRCm39) |
G51R |
probably benign |
Het |
Lhcgr |
A |
T |
17: 89,077,307 (GRCm39) |
I93K |
possibly damaging |
Het |
Muc6 |
G |
C |
7: 141,226,700 (GRCm39) |
|
probably benign |
Het |
Mymk |
G |
T |
2: 26,957,405 (GRCm39) |
S29R |
possibly damaging |
Het |
Nab2 |
A |
T |
10: 127,500,207 (GRCm39) |
I295N |
probably damaging |
Het |
Neu2 |
A |
T |
1: 87,524,407 (GRCm39) |
T131S |
probably benign |
Het |
Pdcd7 |
T |
A |
9: 65,261,965 (GRCm39) |
M129K |
possibly damaging |
Het |
Ptar1 |
A |
G |
19: 23,695,208 (GRCm39) |
H225R |
probably benign |
Het |
Pygb |
T |
A |
2: 150,665,886 (GRCm39) |
|
probably null |
Het |
Rpap3 |
T |
C |
15: 97,586,049 (GRCm39) |
D314G |
probably benign |
Het |
Scara3 |
A |
G |
14: 66,168,670 (GRCm39) |
S316P |
probably damaging |
Het |
Sec24a |
C |
T |
11: 51,587,483 (GRCm39) |
V1051I |
probably benign |
Het |
Setdb1 |
G |
T |
3: 95,235,888 (GRCm39) |
A841D |
probably damaging |
Het |
Tcte2 |
G |
A |
17: 13,948,250 (GRCm39) |
Q10* |
probably null |
Het |
Tgm2 |
C |
A |
2: 157,985,020 (GRCm39) |
E29* |
probably null |
Het |
Trim32 |
G |
A |
4: 65,533,308 (GRCm39) |
V622M |
probably damaging |
Het |
Ttn |
G |
A |
2: 76,579,673 (GRCm39) |
T23740M |
probably damaging |
Het |
Tyk2 |
G |
T |
9: 21,019,312 (GRCm39) |
Q1014K |
probably benign |
Het |
Vmn1r123 |
A |
G |
7: 20,896,515 (GRCm39) |
N136D |
probably benign |
Het |
Vmn2r31 |
A |
T |
7: 7,387,588 (GRCm39) |
V661E |
probably damaging |
Het |
Vmn2r85 |
A |
T |
10: 130,261,838 (GRCm39) |
F166L |
probably damaging |
Het |
Zfp426 |
T |
C |
9: 20,384,389 (GRCm39) |
K98R |
probably damaging |
Het |
Zfp534 |
C |
T |
4: 147,758,947 (GRCm39) |
R574K |
probably benign |
Het |
|
Other mutations in Stk32b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02166:Stk32b
|
APN |
5 |
37,656,374 (GRCm39) |
splice site |
probably benign |
|
IGL02525:Stk32b
|
APN |
5 |
37,688,977 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02946:Stk32b
|
APN |
5 |
37,688,883 (GRCm39) |
splice site |
probably benign |
|
IGL03277:Stk32b
|
APN |
5 |
37,786,320 (GRCm39) |
missense |
probably damaging |
0.99 |
flank
|
UTSW |
5 |
37,624,125 (GRCm39) |
missense |
probably damaging |
1.00 |
H8441:Stk32b
|
UTSW |
5 |
37,614,578 (GRCm39) |
missense |
probably damaging |
1.00 |
R0042:Stk32b
|
UTSW |
5 |
37,874,092 (GRCm39) |
missense |
probably benign |
0.09 |
R0042:Stk32b
|
UTSW |
5 |
37,874,092 (GRCm39) |
missense |
probably benign |
0.09 |
R0051:Stk32b
|
UTSW |
5 |
37,616,940 (GRCm39) |
splice site |
probably benign |
|
R0051:Stk32b
|
UTSW |
5 |
37,616,940 (GRCm39) |
splice site |
probably benign |
|
R0062:Stk32b
|
UTSW |
5 |
37,618,792 (GRCm39) |
missense |
probably damaging |
1.00 |
R0062:Stk32b
|
UTSW |
5 |
37,618,792 (GRCm39) |
missense |
probably damaging |
1.00 |
R0601:Stk32b
|
UTSW |
5 |
37,688,910 (GRCm39) |
missense |
probably damaging |
1.00 |
R0879:Stk32b
|
UTSW |
5 |
37,616,940 (GRCm39) |
splice site |
probably benign |
|
R1812:Stk32b
|
UTSW |
5 |
37,624,102 (GRCm39) |
missense |
probably damaging |
1.00 |
R1882:Stk32b
|
UTSW |
5 |
37,689,031 (GRCm39) |
missense |
possibly damaging |
0.91 |
R1982:Stk32b
|
UTSW |
5 |
37,806,458 (GRCm39) |
missense |
probably damaging |
0.99 |
R3899:Stk32b
|
UTSW |
5 |
37,614,498 (GRCm39) |
missense |
probably damaging |
1.00 |
R4724:Stk32b
|
UTSW |
5 |
37,612,278 (GRCm39) |
critical splice donor site |
probably null |
|
R4885:Stk32b
|
UTSW |
5 |
37,624,141 (GRCm39) |
missense |
probably damaging |
1.00 |
R5531:Stk32b
|
UTSW |
5 |
37,617,078 (GRCm39) |
splice site |
probably null |
|
R5629:Stk32b
|
UTSW |
5 |
37,614,576 (GRCm39) |
missense |
probably damaging |
1.00 |
R6042:Stk32b
|
UTSW |
5 |
37,806,458 (GRCm39) |
missense |
probably damaging |
0.99 |
R6864:Stk32b
|
UTSW |
5 |
37,606,149 (GRCm39) |
splice site |
probably null |
|
R6879:Stk32b
|
UTSW |
5 |
37,647,867 (GRCm39) |
missense |
possibly damaging |
0.77 |
R7186:Stk32b
|
UTSW |
5 |
37,624,125 (GRCm39) |
missense |
probably damaging |
1.00 |
R8317:Stk32b
|
UTSW |
5 |
37,612,319 (GRCm39) |
missense |
probably damaging |
0.99 |
R8676:Stk32b
|
UTSW |
5 |
37,614,503 (GRCm39) |
missense |
probably benign |
0.00 |
R8795:Stk32b
|
UTSW |
5 |
37,806,483 (GRCm39) |
missense |
probably damaging |
0.98 |
R8948:Stk32b
|
UTSW |
5 |
37,612,341 (GRCm39) |
missense |
possibly damaging |
0.87 |
R9192:Stk32b
|
UTSW |
5 |
37,786,344 (GRCm39) |
missense |
probably damaging |
1.00 |
R9776:Stk32b
|
UTSW |
5 |
37,617,001 (GRCm39) |
missense |
probably benign |
|
V1024:Stk32b
|
UTSW |
5 |
37,614,578 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AGTTTACATATCTGCAGTCCAACC -3'
(R):5'- ACCATCATGTAGCTGCATCC -3'
Sequencing Primer
(F):5'- GTGATTTGCTCAAGGTCACACAGC -3'
(R):5'- TGCATCCAGCCCACCAC -3'
|
Posted On |
2018-06-22 |