Incidental Mutation 'R1392:Hunk'
| ID |
165984 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hunk
|
| Ensembl Gene |
ENSMUSG00000053414 |
| Gene Name |
hormonally upregulated Neu-associated kinase |
| Synonyms |
Mak-v, Bstk1 |
| MMRRC Submission |
039454-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1392 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
90182901-90296441 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 90269352 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 299
(S299P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000068007
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065856]
[ENSMUST00000231719]
|
| AlphaFold |
O88866 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000065856
AA Change: S299P
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000068007
Gene: ENSMUSG00000053414
AA Change: S299P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
24 |
N/A |
INTRINSIC |
|
S_TKc
|
62 |
320 |
8.72e-97 |
SMART |
|
low complexity region
|
521 |
534 |
N/A |
INTRINSIC |
|
low complexity region
|
599 |
615 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231603
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000231719
AA Change: S223P
PolyPhen 2
Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)
|
| Coding Region Coverage |
- 1x: 99.7%
- 3x: 98.6%
- 10x: 94.0%
- 20x: 82.7%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mutations in this gene result in no abnormal phenotype, however in combination with Tg(MMTV-Myc)Led mice, metastatic potential of mammary tumors is decreased. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 16 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Csf1 |
A |
G |
3: 107,663,946 (GRCm39) |
V74A |
probably benign |
Het |
| Hnrnpm |
A |
T |
17: 33,877,389 (GRCm39) |
S325T |
possibly damaging |
Het |
| Kcnk4 |
C |
T |
19: 6,905,031 (GRCm39) |
V207I |
possibly damaging |
Het |
| Myo15a |
A |
G |
11: 60,368,800 (GRCm39) |
H520R |
possibly damaging |
Het |
| Or14c46 |
A |
T |
7: 85,918,063 (GRCm39) |
F311L |
probably benign |
Het |
| Or1n1 |
A |
T |
2: 36,750,187 (GRCm39) |
Y58N |
probably damaging |
Het |
| Pgap4 |
A |
G |
4: 49,586,919 (GRCm39) |
L83P |
probably damaging |
Het |
| Phc2 |
A |
G |
4: 128,638,880 (GRCm39) |
H607R |
possibly damaging |
Het |
| Rsad2 |
A |
G |
12: 26,495,439 (GRCm39) |
V352A |
probably benign |
Het |
| Rtn4rl2 |
A |
G |
2: 84,710,856 (GRCm39) |
L136P |
probably damaging |
Het |
| Spef2 |
C |
T |
15: 9,647,349 (GRCm39) |
V993I |
probably benign |
Het |
| Tiam2 |
A |
G |
17: 3,464,472 (GRCm39) |
H67R |
possibly damaging |
Het |
| Tmcc1 |
G |
C |
6: 115,999,071 (GRCm39) |
R323G |
possibly damaging |
Het |
| Tmt1b |
T |
C |
10: 128,796,567 (GRCm39) |
T81A |
possibly damaging |
Het |
| Vmn2r65 |
A |
T |
7: 84,596,624 (GRCm39) |
S144T |
probably benign |
Het |
| Vmn2r77 |
A |
G |
7: 86,450,830 (GRCm39) |
T239A |
probably benign |
Het |
|
| Other mutations in Hunk |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02312:Hunk
|
APN |
16 |
90,272,829 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02850:Hunk
|
APN |
16 |
90,229,460 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0067:Hunk
|
UTSW |
16 |
90,244,200 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0436:Hunk
|
UTSW |
16 |
90,261,042 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1385:Hunk
|
UTSW |
16 |
90,269,374 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R1392:Hunk
|
UTSW |
16 |
90,269,352 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1487:Hunk
|
UTSW |
16 |
90,183,525 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1707:Hunk
|
UTSW |
16 |
90,183,295 (GRCm39) |
start gained |
probably benign |
|
|
R1781:Hunk
|
UTSW |
16 |
90,229,448 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2063:Hunk
|
UTSW |
16 |
90,290,368 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2066:Hunk
|
UTSW |
16 |
90,278,133 (GRCm39) |
splice site |
probably null |
|
|
R2101:Hunk
|
UTSW |
16 |
90,229,388 (GRCm39) |
splice site |
probably null |
|
|
R2144:Hunk
|
UTSW |
16 |
90,229,420 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2213:Hunk
|
UTSW |
16 |
90,229,505 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4444:Hunk
|
UTSW |
16 |
90,229,679 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4646:Hunk
|
UTSW |
16 |
90,272,791 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4661:Hunk
|
UTSW |
16 |
90,244,196 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4834:Hunk
|
UTSW |
16 |
90,293,086 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5094:Hunk
|
UTSW |
16 |
90,293,554 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5766:Hunk
|
UTSW |
16 |
90,250,627 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5809:Hunk
|
UTSW |
16 |
90,272,791 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6189:Hunk
|
UTSW |
16 |
90,284,769 (GRCm39) |
missense |
probably benign |
|
|
R6194:Hunk
|
UTSW |
16 |
90,293,283 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6235:Hunk
|
UTSW |
16 |
90,229,594 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6468:Hunk
|
UTSW |
16 |
90,290,320 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6835:Hunk
|
UTSW |
16 |
90,269,412 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7127:Hunk
|
UTSW |
16 |
90,272,779 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7329:Hunk
|
UTSW |
16 |
90,183,570 (GRCm39) |
missense |
probably benign |
0.37 |
|
R7331:Hunk
|
UTSW |
16 |
90,269,450 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R7473:Hunk
|
UTSW |
16 |
90,250,588 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7719:Hunk
|
UTSW |
16 |
90,293,554 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7827:Hunk
|
UTSW |
16 |
90,278,214 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R7894:Hunk
|
UTSW |
16 |
90,269,353 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8467:Hunk
|
UTSW |
16 |
90,293,508 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8701:Hunk
|
UTSW |
16 |
90,183,498 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9626:Hunk
|
UTSW |
16 |
90,272,791 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Hunk
|
UTSW |
16 |
90,269,461 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Hunk
|
UTSW |
16 |
90,278,209 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAGAGCAAGCCAATTGCTGCTG -3'
(R):5'- TGGAGAAGGTGTTCCTCCATCTGTG -3'
Sequencing Primer
(F):5'- GCTCTTTGGATATACAGCAGC -3'
(R):5'- TGCCACTTTACCTGTTGGG -3'
|
| Posted On |
2014-03-28 |
Incidental Mutation