Incidental Mutation 'R4444:Hunk'
ID |
329817 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Hunk
|
Ensembl Gene |
ENSMUSG00000053414 |
Gene Name |
hormonally upregulated Neu-associated kinase |
Synonyms |
Mak-v, Bstk1 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4444 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
16 |
Chromosomal Location |
90182901-90296441 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 90229679 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Valine
at position 180
(A180V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000068007
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065856]
[ENSMUST00000231719]
|
AlphaFold |
O88866 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000065856
AA Change: A180V
PolyPhen 2
Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000068007 Gene: ENSMUSG00000053414 AA Change: A180V
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 |
probably benign
Transcript: ENSMUST00000231719
AA Change: A104V
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
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: 24 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc8 |
G |
T |
7: 45,785,618 (GRCm39) |
T695N |
probably benign |
Het |
Cdkl2 |
G |
A |
5: 92,168,168 (GRCm39) |
T342I |
probably benign |
Het |
Cntn5 |
C |
A |
9: 9,704,947 (GRCm39) |
E822D |
probably damaging |
Het |
Cysltr2 |
G |
A |
14: 73,267,333 (GRCm39) |
H126Y |
possibly damaging |
Het |
Dlg2 |
T |
C |
7: 91,737,801 (GRCm39) |
S428P |
probably damaging |
Het |
Egfr |
A |
G |
11: 16,821,027 (GRCm39) |
D314G |
probably benign |
Het |
Ercc5 |
GAAAA |
GAAAAA |
1: 44,197,369 (GRCm39) |
|
probably null |
Het |
Gemin4 |
A |
G |
11: 76,102,917 (GRCm39) |
F615L |
probably benign |
Het |
Ggn |
A |
G |
7: 28,871,585 (GRCm39) |
T322A |
probably benign |
Het |
Kalrn |
C |
T |
16: 33,810,180 (GRCm39) |
D2525N |
possibly damaging |
Het |
Myo1b |
A |
T |
1: 51,797,078 (GRCm39) |
I988N |
probably damaging |
Het |
Nlrp4e |
A |
G |
7: 23,020,652 (GRCm39) |
I380V |
probably benign |
Het |
Or2ag1b |
T |
A |
7: 106,288,353 (GRCm39) |
Y195F |
possibly damaging |
Het |
Plb1 |
G |
A |
5: 32,487,909 (GRCm39) |
V930I |
probably benign |
Het |
Plxna2 |
C |
T |
1: 194,431,625 (GRCm39) |
S538F |
probably damaging |
Het |
Retreg1 |
T |
G |
15: 25,968,530 (GRCm39) |
|
probably null |
Het |
Rnf13 |
A |
C |
3: 57,728,010 (GRCm39) |
K230T |
probably damaging |
Het |
Rpl9-ps1 |
T |
C |
11: 83,536,207 (GRCm39) |
I81V |
possibly damaging |
Het |
Slco1c1 |
A |
G |
6: 141,492,417 (GRCm39) |
T267A |
possibly damaging |
Het |
Spc25 |
A |
T |
2: 69,035,220 (GRCm39) |
M47K |
probably benign |
Het |
Syne2 |
A |
G |
12: 76,069,804 (GRCm39) |
E4377G |
probably damaging |
Het |
Usp34 |
A |
G |
11: 23,385,998 (GRCm39) |
T2142A |
probably damaging |
Het |
Zc3h7a |
A |
G |
16: 10,968,457 (GRCm39) |
|
probably null |
Het |
Zfp169 |
T |
A |
13: 48,643,813 (GRCm39) |
K438M |
possibly damaging |
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 |
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 |
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'- ACAGCTCCTGGACATCTTGG -3'
(R):5'- ACTCTGTACCAAGCACCTCTAG -3'
Sequencing Primer
(F):5'- TCCTGGACATCTTGGAGACAG -3'
(R):5'- GCTCACTAGAGAGACATGTACCTTC -3'
|
Posted On |
2015-07-21 |