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) question?
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

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: D612G

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
Meta Mutation Damage Score 0.0898 question?
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
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
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