Incidental Mutation 'R1385:Hunk'
ID |
163239 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Hunk
|
Ensembl Gene |
ENSMUSG00000053414 |
Gene Name |
hormonally upregulated Neu-associated kinase |
Synonyms |
Mak-v, Bstk1 |
MMRRC Submission |
039447-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1385 (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 A
at 90269374 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 306
(V306E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000068007
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065856]
[ENSMUST00000231719]
|
AlphaFold |
O88866 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000065856
AA Change: V306E
PolyPhen 2
Score 0.605 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000068007 Gene: ENSMUSG00000053414 AA Change: V306E
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 |
probably benign
Transcript: ENSMUST00000231719
AA Change: V230E
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.3%
- 20x: 89.5%
|
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aldh7a1 |
A |
G |
18: 56,675,357 (GRCm39) |
S269P |
probably damaging |
Het |
Arf3 |
A |
G |
15: 98,640,494 (GRCm39) |
V43A |
probably damaging |
Het |
Arhgap1 |
C |
A |
2: 91,501,176 (GRCm39) |
N457K |
probably damaging |
Het |
Arhgef6 |
T |
C |
X: 56,383,922 (GRCm39) |
M5V |
probably benign |
Het |
Bltp3b |
A |
G |
10: 89,626,503 (GRCm39) |
N399S |
possibly damaging |
Het |
Ccdc39 |
C |
T |
3: 33,875,561 (GRCm39) |
E544K |
probably damaging |
Het |
Cfap44 |
A |
G |
16: 44,291,138 (GRCm39) |
E1546G |
probably damaging |
Het |
Cntn6 |
A |
G |
6: 104,838,861 (GRCm39) |
I900V |
probably benign |
Het |
Edem1 |
A |
G |
6: 108,823,645 (GRCm39) |
N347S |
probably damaging |
Het |
Erich6 |
A |
G |
3: 58,544,251 (GRCm39) |
I112T |
probably benign |
Het |
Gemin2 |
A |
G |
12: 59,064,932 (GRCm39) |
|
probably null |
Het |
Hydin |
A |
G |
8: 111,249,836 (GRCm39) |
I2260V |
probably benign |
Het |
Insyn1 |
AGAGGAGGAGGAGGAGG |
AGAGGAGGAGGAGG |
9: 58,406,715 (GRCm39) |
|
probably benign |
Het |
Itgbl1 |
A |
G |
14: 123,898,923 (GRCm39) |
|
probably null |
Het |
Iws1 |
T |
A |
18: 32,223,483 (GRCm39) |
N630K |
probably benign |
Het |
Lama2 |
C |
A |
10: 27,100,039 (GRCm39) |
R822L |
probably benign |
Het |
Lrrc56 |
A |
G |
7: 140,785,438 (GRCm39) |
D130G |
probably damaging |
Het |
Mageb11 |
T |
A |
X: 89,935,874 (GRCm39) |
C43S |
probably benign |
Het |
Malrd1 |
A |
T |
2: 16,047,039 (GRCm39) |
I1722F |
unknown |
Het |
Mark4 |
G |
T |
7: 19,159,952 (GRCm39) |
|
probably null |
Het |
Muc5b |
T |
C |
7: 141,415,874 (GRCm39) |
V2940A |
probably benign |
Het |
Mxd1 |
T |
A |
6: 86,628,549 (GRCm39) |
Q62L |
probably damaging |
Het |
Ncapd2 |
A |
T |
6: 125,150,078 (GRCm39) |
S917T |
probably benign |
Het |
Nr2c2 |
T |
G |
6: 92,131,451 (GRCm39) |
F171C |
probably damaging |
Het |
Nup155 |
A |
T |
15: 8,187,244 (GRCm39) |
H1391L |
probably damaging |
Het |
Nynrin |
A |
T |
14: 56,102,356 (GRCm39) |
Q675L |
probably benign |
Het |
Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
Ocstamp |
T |
C |
2: 165,237,959 (GRCm39) |
D435G |
probably benign |
Het |
Pdzd2 |
T |
C |
15: 12,411,108 (GRCm39) |
T553A |
probably benign |
Het |
Pllp |
A |
G |
8: 95,405,996 (GRCm39) |
Y96H |
probably benign |
Het |
Polg2 |
A |
G |
11: 106,659,149 (GRCm39) |
S455P |
probably damaging |
Het |
Ppp1r9b |
A |
G |
11: 94,883,037 (GRCm39) |
T222A |
probably benign |
Het |
Prkcd |
G |
A |
14: 30,329,362 (GRCm39) |
T26I |
probably damaging |
Het |
Prkcq |
A |
G |
2: 11,261,097 (GRCm39) |
H383R |
probably damaging |
Het |
Prune2 |
A |
G |
19: 17,102,312 (GRCm39) |
I2490M |
possibly damaging |
Het |
Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
Scn9a |
G |
A |
2: 66,393,886 (GRCm39) |
P229L |
probably damaging |
Het |
Serpinb5 |
A |
G |
1: 106,803,853 (GRCm39) |
T180A |
probably damaging |
Het |
Slc5a2 |
G |
C |
7: 127,869,803 (GRCm39) |
R412P |
probably damaging |
Het |
Sphk2 |
A |
G |
7: 45,361,715 (GRCm39) |
I82T |
probably damaging |
Het |
Tedc2 |
T |
A |
17: 24,435,291 (GRCm39) |
E366V |
probably damaging |
Het |
Tedc2 |
C |
A |
17: 24,435,292 (GRCm39) |
E366* |
probably null |
Het |
Treml1 |
T |
G |
17: 48,667,226 (GRCm39) |
V37G |
probably damaging |
Het |
Trim33 |
A |
G |
3: 103,218,266 (GRCm39) |
K272E |
possibly damaging |
Het |
Trpv6 |
T |
C |
6: 41,598,063 (GRCm39) |
D748G |
probably benign |
Het |
Ubr4 |
A |
G |
4: 139,129,923 (GRCm39) |
H681R |
probably benign |
Het |
Vmn2r82 |
A |
T |
10: 79,232,325 (GRCm39) |
R775* |
probably null |
Het |
Xpo1 |
T |
C |
11: 23,211,863 (GRCm39) |
L8S |
probably damaging |
Het |
Zfand4 |
G |
A |
6: 116,250,599 (GRCm39) |
G10R |
probably damaging |
Het |
Zfp119a |
T |
A |
17: 56,172,826 (GRCm39) |
H339L |
probably damaging |
Het |
Zfp407 |
C |
T |
18: 84,577,898 (GRCm39) |
A1072T |
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 |
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 |
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'- TCACTTTCTGTGAGCTGTGGAATCG -3'
(R):5'- GGTTGCATCTTCCTGCCCAATGAG -3'
Sequencing Primer
(F):5'- AGCTGTGGAATCGAAGCCC -3'
(R):5'- GGCAGGGTATAAATAGCTTTGACTTC -3'
|
Posted On |
2014-03-17 |