Incidental Mutation 'R5094:Hunk'
ID |
388007 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Hunk
|
Ensembl Gene |
ENSMUSG00000053414 |
Gene Name |
hormonally upregulated Neu-associated kinase |
Synonyms |
Mak-v, Bstk1 |
MMRRC Submission |
042683-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5094 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
90182901-90296441 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 90293554 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 612
(D612G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000156104
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065856]
[ENSMUST00000231719]
|
AlphaFold |
O88866 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000065856
AA Change: D688G
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
SMART Domains |
Protein: ENSMUSP00000068007 Gene: ENSMUSG00000053414 AA Change: D688G
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: D612G
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 92.9%
|
Validation Efficiency |
91% (40/44) |
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: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930407I10Rik |
G |
T |
15: 81,946,883 (GRCm39) |
G260V |
possibly damaging |
Het |
Agap3 |
T |
C |
5: 24,656,319 (GRCm39) |
|
probably benign |
Het |
Bicra |
A |
G |
7: 15,709,296 (GRCm39) |
S1173P |
probably damaging |
Het |
C3 |
A |
T |
17: 57,532,033 (GRCm39) |
|
probably null |
Het |
Cdh18 |
G |
A |
15: 22,714,625 (GRCm39) |
|
probably benign |
Het |
Cep290 |
A |
G |
10: 100,402,892 (GRCm39) |
K2274E |
probably damaging |
Het |
Cfap54 |
T |
C |
10: 92,734,861 (GRCm39) |
|
probably benign |
Het |
Chat |
T |
A |
14: 32,130,896 (GRCm39) |
I582F |
probably damaging |
Het |
Chrnb4 |
T |
C |
9: 54,942,597 (GRCm39) |
I226V |
probably benign |
Het |
Dnajc2 |
T |
C |
5: 21,981,730 (GRCm39) |
T139A |
probably damaging |
Het |
Eml1 |
T |
C |
12: 108,502,570 (GRCm39) |
F712S |
probably benign |
Het |
Fgfr1 |
C |
T |
8: 26,060,181 (GRCm39) |
S524L |
probably damaging |
Het |
Gimap3 |
T |
C |
6: 48,742,306 (GRCm39) |
E208G |
probably damaging |
Het |
Gm12185 |
T |
A |
11: 48,798,375 (GRCm39) |
D706V |
probably benign |
Het |
Gucy1a2 |
T |
A |
9: 3,865,443 (GRCm39) |
V639D |
probably damaging |
Het |
Hivep2 |
T |
C |
10: 14,007,893 (GRCm39) |
F1497S |
probably benign |
Het |
Ifit3b |
T |
A |
19: 34,589,948 (GRCm39) |
S375T |
possibly damaging |
Het |
Mucl1 |
A |
G |
15: 103,785,669 (GRCm39) |
S13P |
possibly damaging |
Het |
Or5w12 |
C |
T |
2: 87,502,174 (GRCm39) |
C179Y |
possibly damaging |
Het |
Or8k20 |
T |
A |
2: 86,106,384 (GRCm39) |
Y149F |
probably damaging |
Het |
Pah |
T |
A |
10: 87,374,081 (GRCm39) |
Y78* |
probably null |
Het |
Pex13 |
A |
G |
11: 23,605,441 (GRCm39) |
V263A |
probably benign |
Het |
Pfdn2 |
T |
A |
1: 171,184,067 (GRCm39) |
|
probably benign |
Het |
Phip |
C |
T |
9: 82,753,897 (GRCm39) |
V1616I |
probably benign |
Het |
Pigg |
A |
G |
5: 108,484,123 (GRCm39) |
S457G |
possibly damaging |
Het |
Ppp1r13b |
A |
G |
12: 111,810,044 (GRCm39) |
S97P |
probably benign |
Het |
Slc22a6 |
T |
C |
19: 8,603,541 (GRCm39) |
L535P |
probably damaging |
Het |
Slc5a1 |
A |
G |
5: 33,315,624 (GRCm39) |
T548A |
probably damaging |
Het |
Smtnl2 |
T |
A |
11: 72,291,211 (GRCm39) |
S346C |
probably damaging |
Het |
Spata31d1a |
A |
G |
13: 59,852,858 (GRCm39) |
|
probably null |
Het |
Tlcd2 |
T |
C |
11: 75,360,640 (GRCm39) |
S228P |
probably benign |
Het |
Tmem135 |
A |
G |
7: 88,793,001 (GRCm39) |
L411P |
probably damaging |
Het |
Tnrc6c |
T |
C |
11: 117,611,872 (GRCm39) |
V170A |
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 |
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 |
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'- TCTTTTGCCCACGAAGAAAAG -3'
(R):5'- AGCTGATACAAGCGTGGGAC -3'
Sequencing Primer
(F):5'- TTTTGCCCACGAAGAAAAGAACAG -3'
(R):5'- ATAAAGGATGCTCCCGTGAG -3'
|
Posted On |
2016-06-06 |