Incidental Mutation 'R1892:Hpn'
Institutional Source Beutler Lab
Gene Symbol Hpn
Ensembl Gene ENSMUSG00000001249
Gene Namehepsin
MMRRC Submission 039912-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R1892 (G1)
Quality Score225
Status Not validated
Chromosomal Location31098725-31115290 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) G to A at 31099043 bp
Amino Acid Change Glutamine to Stop codon at position 415 (Q415*)
Ref Sequence ENSEMBL: ENSMUSP00000131658 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039435] [ENSMUST00000108102] [ENSMUST00000165124] [ENSMUST00000168884] [ENSMUST00000171259]
Predicted Effect probably null
Transcript: ENSMUST00000039435
AA Change: Q444*
SMART Domains Protein: ENSMUSP00000038149
Gene: ENSMUSG00000001249
AA Change: Q444*

transmembrane domain 46 68 N/A INTRINSIC
SR 82 179 8.44e-5 SMART
Tryp_SPc 190 428 3.09e-98 SMART
Predicted Effect probably null
Transcript: ENSMUST00000108102
AA Change: Q435*
SMART Domains Protein: ENSMUSP00000103737
Gene: ENSMUSG00000001249
AA Change: Q435*

transmembrane domain 37 59 N/A INTRINSIC
SR 73 170 8.44e-5 SMART
Tryp_SPc 181 419 3.09e-98 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000164340
Predicted Effect probably benign
Transcript: ENSMUST00000165124
Predicted Effect noncoding transcript
Transcript: ENSMUST00000165480
Predicted Effect noncoding transcript
Transcript: ENSMUST00000167719
Predicted Effect probably null
Transcript: ENSMUST00000168884
AA Change: Q415*
SMART Domains Protein: ENSMUSP00000131658
Gene: ENSMUSG00000001249
AA Change: Q415*

transmembrane domain 20 42 N/A INTRINSIC
SR 53 150 8.44e-5 SMART
Tryp_SPc 161 399 3.09e-98 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000171225
Predicted Effect probably benign
Transcript: ENSMUST00000171259
SMART Domains Protein: ENSMUSP00000132307
Gene: ENSMUSG00000001249

Tryp_SPc 1 142 5.41e-30 SMART
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.4%
  • 20x: 93.0%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a type II transmembrane serine protease that may function in diverse processes, including regulation of cell growth. Deficiency in this gene results in hearing loss. The protein is cleaved into a catalytic serine protease chain and a non-catalytic scavenger receptor cysteine-rich chain, which associate via a single disulfide bond. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2013]
PHENOTYPE: Mice homozygous for a null mutation are hypothyroidic and develop profound hearing loss associated with structural changes in the tectorial membrane and a myelination defect affecting the compaction of spiral ganglion neurons. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 92 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 G A 7: 120,216,338 A270T probably benign Het
Abcb7 A T X: 104,342,536 H97Q probably damaging Het
Adat3 T C 10: 80,606,415 L29P probably damaging Het
AI987944 A T 7: 41,374,596 C320S probably damaging Het
Asic4 C T 1: 75,469,482 R285W probably damaging Het
Asic5 A T 3: 82,020,986 I419L probably damaging Het
Batf A G 12: 85,689,328 K42E probably damaging Het
Bcar3 A G 3: 122,508,136 N160S probably benign Het
Bco2 C A 9: 50,550,563 G47V probably damaging Het
Bicc1 T G 10: 70,958,784 K181T probably damaging Het
Brinp2 A G 1: 158,254,972 probably null Het
Cacng8 A G 7: 3,415,052 D240G possibly damaging Het
Calca A G 7: 114,633,727 Y96H probably damaging Het
Cdh1 A T 8: 106,664,250 K666I possibly damaging Het
Cdh16 A T 8: 104,617,999 I500N possibly damaging Het
Chst14 A G 2: 118,927,349 Y208C probably damaging Het
Chst9 T C 18: 15,452,960 H182R probably damaging Het
Clk2 A G 3: 89,175,195 I367M possibly damaging Het
Cobl G C 11: 12,253,258 S1066W probably damaging Het
Ctcfl A G 2: 173,118,685 V35A probably benign Het
Dchs1 G T 7: 105,764,156 H1151N probably benign Het
Dennd1c T C 17: 57,067,083 T529A probably benign Het
Dnah11 A T 12: 118,106,474 V1532D possibly damaging Het
Dync1h1 A G 12: 110,646,304 Y2871C probably damaging Het
Dytn T C 1: 63,677,261 E51G probably benign Het
Esd C T 14: 74,749,673 A266V probably damaging Het
Fam104a G T 11: 113,663,386 P161H probably damaging Het
Gli1 T C 10: 127,330,106 M1093V possibly damaging Het
Gm15446 A G 5: 109,943,387 K502E probably damaging Het
Gm15448 A C 7: 3,824,574 C195G probably benign Het
Gm4076 T A 13: 85,127,328 noncoding transcript Het
Gm9830 A G 9: 44,464,528 noncoding transcript Het
Gm9938 G A 19: 23,724,591 probably benign Het
Grhl1 G A 12: 24,584,910 R245H probably damaging Het
Hnrnpul1 A T 7: 25,726,766 D553E probably benign Het
Hsd11b1 T G 1: 193,223,760 M175L probably benign Het
Htra1 G A 7: 130,985,069 V461I possibly damaging Het
Il1rl2 A G 1: 40,327,534 H76R probably damaging Het
Insrr G A 3: 87,813,877 V1112M probably damaging Het
Ints9 T C 14: 65,020,423 S351P probably benign Het
Itgav T A 2: 83,771,336 N350K probably damaging Het
Kdm4d C A 9: 14,464,317 V82L probably benign Het
Klc1 T C 12: 111,781,827 probably null Het
Kmt5c T A 7: 4,742,715 C69* probably null Het
Lgals3 T G 14: 47,384,707 N193K possibly damaging Het
Morc2b T A 17: 33,135,774 D1008V probably damaging Het
Mpg C T 11: 32,231,720 Q243* probably null Het
Muc15 C T 2: 110,737,352 R281* probably null Het
Ncstn CAGCTCCACGAAG CAG 1: 172,071,471 probably null Het
Nek5 A G 8: 22,107,729 M278T probably benign Het
Npas2 A G 1: 39,345,422 T599A probably benign Het
Nrf1 A G 6: 30,144,788 D519G probably null Het
Nup43 A G 10: 7,673,609 H176R probably damaging Het
Nxpe2 T C 9: 48,326,614 T114A probably damaging Het
Olfr218 T C 1: 173,204,228 Y291H probably damaging Het
Olfr497 A T 7: 108,422,940 Y123F possibly damaging Het
Olfr790 A C 10: 129,501,033 I50L probably benign Het
Perm1 C T 4: 156,217,883 R295C probably benign Het
Pik3ip1 G T 11: 3,333,304 A135S probably damaging Het
Ppp4c A G 7: 126,786,280 V119A probably damaging Het
Prepl A G 17: 85,088,450 Y35H possibly damaging Het
Ptpn13 A G 5: 103,501,679 Y316C possibly damaging Het
Pxk C T 14: 8,151,507 R441* probably null Het
Ranbp2 T C 10: 58,464,099 V491A probably benign Het
Ranbp9 C A 13: 43,416,457 C495F possibly damaging Het
Rfx8 A T 1: 39,670,586 probably null Het
Rnf111 T A 9: 70,476,374 K92N probably damaging Het
Rtn1 A G 12: 72,212,563 I772T probably damaging Het
Ryr2 T A 13: 11,658,958 K72* probably null Het
Sergef A T 7: 46,614,616 probably null Het
Sez6l T C 5: 112,472,799 N305S probably damaging Het
Slc40a1 A T 1: 45,911,142 C383* probably null Het
Stab2 C T 10: 86,938,049 C806Y probably damaging Het
Stard9 A G 2: 120,693,708 T795A probably benign Het
Stk31 T C 6: 49,438,474 I536T probably damaging Het
Stox1 T A 10: 62,665,399 T461S possibly damaging Het
Suv39h2 T C 2: 3,459,768 Y219C probably damaging Het
Tap1 T G 17: 34,194,941 D643E probably damaging Het
Tbc1d2b T A 9: 90,218,943 I665F probably damaging Het
Tdrd6 T C 17: 43,624,805 N1784S probably benign Het
Tmem14c T C 13: 41,021,157 F81L possibly damaging Het
Tnrc6c A G 11: 117,714,362 N108D probably benign Het
Tox3 A T 8: 90,270,241 N131K probably benign Het
Tspear T A 10: 77,870,474 D359E probably benign Het
Ttc9 A G 12: 81,631,777 I125V probably benign Het
Ttn A T 2: 76,898,187 probably benign Het
Ubn2 C T 6: 38,491,291 S980F probably damaging Het
Zfp362 T A 4: 128,790,264 T30S probably benign Het
Zfp385c A C 11: 100,637,804 H32Q probably damaging Het
Zfp870 A T 17: 32,883,889 H156Q possibly damaging Het
Zfp873 T C 10: 82,061,246 C641R probably damaging Het
Zfp950 A T 19: 61,119,111 H511Q probably benign Het
Other mutations in Hpn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01532:Hpn APN 7 31103513 missense possibly damaging 0.51
sweetsoup UTSW 7 31099898 missense possibly damaging 0.76
R0238:Hpn UTSW 7 31099390 splice site probably benign
R0671:Hpn UTSW 7 31109160 missense possibly damaging 0.66
R0747:Hpn UTSW 7 31099546 missense probably damaging 1.00
R0864:Hpn UTSW 7 31109001 missense probably benign
R0988:Hpn UTSW 7 31099898 missense possibly damaging 0.76
R1893:Hpn UTSW 7 31099348 missense probably damaging 1.00
R4829:Hpn UTSW 7 31098875 utr 3 prime probably benign
R5152:Hpn UTSW 7 31099836 missense probably damaging 0.99
R5338:Hpn UTSW 7 31103356 missense probably benign 0.20
R5664:Hpn UTSW 7 31099262 missense probably damaging 1.00
R7003:Hpn UTSW 7 31110942 intron probably benign
R8235:Hpn UTSW 7 31102783 missense possibly damaging 0.85
X0019:Hpn UTSW 7 31099035 makesense probably null
Predicted Primers PCR Primer

Sequencing Primer
Posted On2014-06-30