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) question?
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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