Incidental Mutation 'R6835:Hunk'
| ID |
534413 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hunk
|
| Ensembl Gene |
ENSMUSG00000053414 |
| Gene Name |
hormonally upregulated Neu-associated kinase |
| Synonyms |
Mak-v, Bstk1 |
| MMRRC Submission |
044944-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6835 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
90182901-90296441 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 90269412 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Glycine
at position 243
(W243G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000156104
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065856]
[ENSMUST00000231719]
|
| AlphaFold |
O88866 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000065856
AA Change: W319G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000068007
Gene: ENSMUSG00000053414
AA Change: W319G
| 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 damaging
Transcript: ENSMUST00000231719
AA Change: W243G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.2%
|
| Validation Efficiency |
100% (44/44) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actl11 |
A |
G |
9: 107,807,761 (GRCm39) |
R695G |
probably benign |
Het |
| Arhgef4 |
A |
G |
1: 34,845,574 (GRCm39) |
H1533R |
probably damaging |
Het |
| Birc6 |
T |
C |
17: 74,949,499 (GRCm39) |
L3120P |
probably damaging |
Het |
| Cfap46 |
T |
A |
7: 139,232,414 (GRCm39) |
I850F |
probably damaging |
Het |
| Crym |
A |
C |
7: 119,785,868 (GRCm39) |
S311A |
probably benign |
Het |
| Cttn |
T |
C |
7: 144,010,234 (GRCm39) |
|
probably null |
Het |
| Dtnb |
C |
T |
12: 3,682,841 (GRCm39) |
|
probably benign |
Het |
| Edem1 |
T |
C |
6: 108,831,360 (GRCm39) |
V607A |
probably benign |
Het |
| Etfa |
A |
G |
9: 55,403,103 (GRCm39) |
V64A |
probably benign |
Het |
| Fam133b |
A |
G |
5: 3,604,732 (GRCm39) |
T40A |
possibly damaging |
Het |
| Fmn2 |
C |
A |
1: 174,527,235 (GRCm39) |
D1442E |
probably damaging |
Het |
| Gpi1 |
T |
C |
7: 33,926,563 (GRCm39) |
K128E |
possibly damaging |
Het |
| Gpr179 |
A |
T |
11: 97,238,293 (GRCm39) |
F310L |
probably damaging |
Het |
| Hdac7 |
T |
A |
15: 97,700,628 (GRCm39) |
H531L |
probably damaging |
Het |
| Hfm1 |
G |
A |
5: 107,026,681 (GRCm39) |
R145* |
probably null |
Het |
| Hsp90b1 |
A |
T |
10: 86,529,949 (GRCm39) |
D573E |
probably damaging |
Het |
| Icam1 |
G |
T |
9: 20,938,421 (GRCm39) |
G327W |
possibly damaging |
Het |
| Ino80d |
C |
A |
1: 63,113,485 (GRCm39) |
A322S |
probably benign |
Het |
| Irag1 |
T |
G |
7: 110,520,541 (GRCm39) |
E278A |
probably damaging |
Het |
| Itpkc |
A |
C |
7: 26,927,240 (GRCm39) |
S225A |
probably benign |
Het |
| Krt75 |
C |
T |
15: 101,479,472 (GRCm39) |
R286Q |
probably benign |
Het |
| Lmnb2 |
A |
G |
10: 80,745,794 (GRCm39) |
L95P |
probably damaging |
Het |
| Mns1 |
T |
C |
9: 72,360,026 (GRCm39) |
M392T |
probably damaging |
Het |
| Morc3 |
A |
T |
16: 93,644,309 (GRCm39) |
N200I |
probably damaging |
Het |
| Myadm |
T |
C |
7: 3,346,192 (GRCm39) |
V318A |
possibly damaging |
Het |
| Nt5dc1 |
A |
C |
10: 34,186,375 (GRCm39) |
S398A |
probably benign |
Het |
| Or13c7 |
T |
C |
4: 43,854,912 (GRCm39) |
V201A |
probably benign |
Het |
| Or1e31 |
A |
G |
11: 73,690,061 (GRCm39) |
I174T |
possibly damaging |
Het |
| Pcdhga2 |
T |
C |
18: 37,803,842 (GRCm39) |
I562T |
probably damaging |
Het |
| Pcdhgb1 |
T |
A |
18: 37,813,553 (GRCm39) |
C15S |
probably benign |
Het |
| Pikfyve |
T |
G |
1: 65,298,002 (GRCm39) |
L1532R |
probably damaging |
Het |
| Rdh7 |
T |
A |
10: 127,720,608 (GRCm39) |
T255S |
probably benign |
Het |
| Rtel1 |
A |
G |
2: 180,997,746 (GRCm39) |
T1165A |
probably benign |
Het |
| Sdk2 |
C |
T |
11: 113,720,874 (GRCm39) |
A1352T |
probably damaging |
Het |
| Strip2 |
T |
C |
6: 29,941,916 (GRCm39) |
S629P |
probably damaging |
Het |
| Taf5 |
A |
G |
19: 47,065,776 (GRCm39) |
T494A |
possibly damaging |
Het |
| Tek |
T |
G |
4: 94,741,671 (GRCm39) |
N809K |
possibly damaging |
Het |
| Tmbim7 |
A |
T |
5: 3,711,943 (GRCm39) |
T63S |
probably benign |
Het |
| Utrn |
A |
T |
10: 12,603,508 (GRCm39) |
L624Q |
probably damaging |
Het |
| Xbp1 |
A |
G |
11: 5,471,809 (GRCm39) |
|
probably benign |
Het |
| Zbp1 |
T |
A |
2: 173,055,704 (GRCm39) |
|
probably null |
Het |
| Zfp112 |
T |
C |
7: 23,825,231 (GRCm39) |
C400R |
probably damaging |
Het |
| Zfp202 |
C |
T |
9: 40,121,531 (GRCm39) |
|
probably null |
Het |
| Zfp747 |
T |
C |
7: 126,973,219 (GRCm39) |
E317G |
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 |
|
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 |
|
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'- GTGAGCTGTGGAATCGAAGC -3'
(R):5'- GCAGGGTATAAATAGCTTTGACTTCG -3'
Sequencing Primer
(F):5'- TGTGGAATCGAAGCCCCAC -3'
(R):5'- ATAGCTTTGACTTCGATCACCTACAG -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation