Incidental Mutation 'R1857:Tmprss6'
ID 206263
Institutional Source Beutler Lab
Gene Symbol Tmprss6
Ensembl Gene ENSMUSG00000016942
Gene Name transmembrane serine protease 6
Synonyms matriptase-2, 1300008A22Rik
MMRRC Submission 039881-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.067) question?
Stock # R1857 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 78323867-78352834 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 78336752 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 383 (F383L)
Ref Sequence ENSEMBL: ENSMUSP00000155549 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017086] [ENSMUST00000229124] [ENSMUST00000229516] [ENSMUST00000230159] [ENSMUST00000230226]
AlphaFold Q9DBI0
Predicted Effect probably damaging
Transcript: ENSMUST00000017086
AA Change: F383L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000017086
Gene: ENSMUSG00000016942
AA Change: F383L

DomainStartEndE-ValueType
low complexity region 19 39 N/A INTRINSIC
transmembrane domain 57 79 N/A INTRINSIC
Pfam:SEA 88 191 3.2e-13 PFAM
CUB 341 452 3.82e-2 SMART
LDLa 457 489 1.33e-2 SMART
LDLa 490 527 2.31e-9 SMART
LDLa 530 568 1.07e-4 SMART
Tryp_SPc 576 806 3.75e-97 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000229124
Predicted Effect probably damaging
Transcript: ENSMUST00000229516
AA Change: F383L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
Predicted Effect probably damaging
Transcript: ENSMUST00000230159
AA Change: F383L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000230226
AA Change: F371L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.9%
  • 10x: 95.3%
  • 20x: 92.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a type II transmembrane serine proteinase that is found attached to the cell surface. The encoded protein may be involved in matrix remodeling processes in the liver. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
PHENOTYPE: Homozygosity for an inactivating mutation of this gene results in hair loss over the entire body except the face, microcytic anemia and female infertility, all reversible by dietary iron supplementation. [provided by MGI curators]
Allele List at MGI

All alleles(11) : Targeted(6) Gene trapped(2) Chemically induced(3)

Other mutations in this stock
Total: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars1 T A 8: 111,766,789 (GRCm39) I57N probably damaging Het
Abca15 T C 7: 119,960,592 (GRCm39) S685P probably damaging Het
Adpgk G T 9: 59,222,248 (GRCm39) V392L probably benign Het
Akap14 C T X: 36,420,779 (GRCm39) A476T probably damaging Het
Amdhd1 A T 10: 93,367,416 (GRCm39) I246N probably damaging Het
Amhr2 T A 15: 102,355,212 (GRCm39) L165* probably null Het
Atr T A 9: 95,747,150 (GRCm39) I144N probably damaging Het
Ccdc33 T C 9: 57,939,991 (GRCm39) N750S possibly damaging Het
Cdh23 A G 10: 60,159,076 (GRCm39) I2233T probably damaging Het
Cfap46 C A 7: 139,233,324 (GRCm39) V774F probably damaging Het
Cfap69 G T 5: 5,632,518 (GRCm39) T362K possibly damaging Het
Cnih3 A G 1: 181,277,638 (GRCm39) H101R probably damaging Het
Crebrf T A 17: 26,961,937 (GRCm39) Y345N probably benign Het
Cyb5r4 C T 9: 86,923,332 (GRCm39) S185L probably benign Het
Cyp2j5 T C 4: 96,547,723 (GRCm39) E173G possibly damaging Het
Cyp3a41b T A 5: 145,503,660 (GRCm39) I296F probably benign Het
Dse T C 10: 34,029,225 (GRCm39) T622A probably benign Het
Duxf4 A G 10: 58,071,602 (GRCm39) V204A probably benign Het
Dync1h1 T A 12: 110,629,059 (GRCm39) F4205L probably damaging Het
Eif3a A C 19: 60,770,635 (GRCm39) L71V probably damaging Het
Eif3h T C 15: 51,662,674 (GRCm39) Y124C probably damaging Het
Eif4g3 A T 4: 137,903,187 (GRCm39) Q1169L possibly damaging Het
Endod1 T A 9: 14,268,405 (GRCm39) H360L probably benign Het
Fbxo38 A G 18: 62,648,489 (GRCm39) I683T probably damaging Het
Frem2 T A 3: 53,562,294 (GRCm39) T738S probably benign Het
Gm1527 A T 3: 28,957,539 (GRCm39) T148S probably damaging Het
Gm4894 T C 9: 49,189,976 (GRCm39) S84P unknown Het
Hsh2d G A 8: 72,954,304 (GRCm39) D229N probably benign Het
Il1f10 A T 2: 24,182,817 (GRCm39) D31V possibly damaging Het
Lrrc56 A G 7: 140,787,421 (GRCm39) M353V probably benign Het
Meiob T C 17: 25,042,544 (GRCm39) V124A probably damaging Het
Mmp11 A T 10: 75,764,191 (GRCm39) D91E probably benign Het
Mpped2 T C 2: 106,613,989 (GRCm39) Y108H probably damaging Het
Mroh9 A G 1: 162,866,714 (GRCm39) V674A probably damaging Het
Mtor G T 4: 148,565,336 (GRCm39) Q1015H probably damaging Het
Mylk3 G A 8: 86,055,223 (GRCm39) T711I probably damaging Het
Ndufaf6 G T 4: 11,053,474 (GRCm39) H277Q probably benign Het
Neurl4 G T 11: 69,796,361 (GRCm39) G435V probably damaging Het
Nipal2 A G 15: 34,678,779 (GRCm39) S21P possibly damaging Het
Nphp1 T A 2: 127,612,296 (GRCm39) D217V probably benign Het
Nphp3 T C 9: 103,898,493 (GRCm39) I432T possibly damaging Het
Oprd1 T G 4: 131,840,992 (GRCm39) D322A probably damaging Het
Or10ag2 T C 2: 87,248,992 (GRCm39) L198P probably damaging Het
Or2b28 A G 13: 21,531,346 (GRCm39) M83V possibly damaging Het
Or56a3b T G 7: 104,770,751 (GRCm39) L29R probably benign Het
Pcdh10 C A 3: 45,334,372 (GRCm39) Q229K possibly damaging Het
Pdlim7 G A 13: 55,653,858 (GRCm39) T253M probably damaging Het
Pfdn1 C A 18: 36,584,153 (GRCm39) M60I probably benign Het
Pigc T G 1: 161,798,446 (GRCm39) S143A possibly damaging Het
Pkd1l2 T C 8: 117,767,408 (GRCm39) D1294G possibly damaging Het
Ppp2r1a T C 17: 21,181,951 (GRCm39) S490P possibly damaging Het
Ppp2r3d T A 9: 101,090,092 (GRCm39) N77I probably damaging Het
Pramel17 T C 4: 101,692,770 (GRCm39) Y410C probably damaging Het
Pramel29 C T 4: 143,935,091 (GRCm39) V217I possibly damaging Het
Prl7a2 A T 13: 27,843,163 (GRCm39) C213* probably null Het
Prpf8 T A 11: 75,386,249 (GRCm39) probably null Het
Psmd7 A T 8: 108,311,525 (GRCm39) N109K probably damaging Het
Ptprn T C 1: 75,224,549 (GRCm39) K936E possibly damaging Het
Ro60 T C 1: 143,646,488 (GRCm39) T86A probably benign Het
Ror1 A T 4: 100,298,700 (GRCm39) Q691L probably damaging Het
Sars2 A G 7: 28,449,437 (GRCm39) M322V probably benign Het
Scfd2 C A 5: 74,372,962 (GRCm39) E638* probably null Het
Scgb3a2 A G 18: 43,899,900 (GRCm39) T63A probably benign Het
Slc5a4a T C 10: 76,002,569 (GRCm39) S242P probably benign Het
Smarcd1 A G 15: 99,607,295 (GRCm39) K382E probably damaging Het
Sox5 T A 6: 143,906,541 (GRCm39) S305C probably damaging Het
Sp5 C A 2: 70,307,213 (GRCm39) H299Q possibly damaging Het
Stard13 T C 5: 151,018,903 (GRCm39) Y60C probably damaging Het
Ttc23 T C 7: 67,328,821 (GRCm39) probably null Het
Ugt2b34 T C 5: 87,052,241 (GRCm39) T252A possibly damaging Het
Vangl2 A T 1: 171,837,464 (GRCm39) L115Q probably damaging Het
Vmn1r42 A G 6: 89,821,597 (GRCm39) I324T probably benign Het
Vwa5b1 A G 4: 138,296,413 (GRCm39) F1205L probably damaging Het
Zfp951 G C 5: 104,962,723 (GRCm39) T281R probably damaging Het
Zscan30 A G 18: 24,104,524 (GRCm39) noncoding transcript Het
Other mutations in Tmprss6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01066:Tmprss6 APN 15 78,326,634 (GRCm39) missense probably null 1.00
IGL02474:Tmprss6 APN 15 78,326,536 (GRCm39) missense probably damaging 0.99
cubone UTSW 15 78,330,857 (GRCm39) splice site probably null
dilutional UTSW 15 78,328,328 (GRCm39) missense probably damaging 1.00
Ekans UTSW 15 78,343,627 (GRCm39) splice site probably null
mask UTSW 15 78,464,455 (GRCm38) intron probably benign
masquerade UTSW 15 78,352,200 (GRCm39) intron probably benign
zorro UTSW 15 78,464,552 (GRCm38) intron probably benign
BB003:Tmprss6 UTSW 15 78,337,050 (GRCm39) missense probably benign 0.28
BB013:Tmprss6 UTSW 15 78,337,050 (GRCm39) missense probably benign 0.28
PIT1430001:Tmprss6 UTSW 15 78,324,827 (GRCm39) missense probably damaging 1.00
R0285:Tmprss6 UTSW 15 78,337,068 (GRCm39) missense probably damaging 0.99
R2432:Tmprss6 UTSW 15 78,349,304 (GRCm39) splice site probably benign
R4192:Tmprss6 UTSW 15 78,330,857 (GRCm39) splice site probably null
R4226:Tmprss6 UTSW 15 78,330,899 (GRCm39) missense probably damaging 1.00
R4227:Tmprss6 UTSW 15 78,330,899 (GRCm39) missense probably damaging 1.00
R4334:Tmprss6 UTSW 15 78,343,627 (GRCm39) splice site probably null
R4344:Tmprss6 UTSW 15 78,343,627 (GRCm39) splice site probably null
R4446:Tmprss6 UTSW 15 78,337,039 (GRCm39) missense probably damaging 1.00
R4508:Tmprss6 UTSW 15 78,343,978 (GRCm39) missense probably damaging 1.00
R4643:Tmprss6 UTSW 15 78,329,556 (GRCm39) missense probably damaging 0.98
R4743:Tmprss6 UTSW 15 78,327,910 (GRCm39) missense probably damaging 0.99
R4836:Tmprss6 UTSW 15 78,329,588 (GRCm39) missense probably damaging 1.00
R4859:Tmprss6 UTSW 15 78,330,877 (GRCm39) missense probably damaging 0.99
R4869:Tmprss6 UTSW 15 78,327,880 (GRCm39) splice site probably null
R5197:Tmprss6 UTSW 15 78,338,389 (GRCm39) missense probably damaging 1.00
R5212:Tmprss6 UTSW 15 78,330,460 (GRCm39) missense probably damaging 0.99
R5225:Tmprss6 UTSW 15 78,336,707 (GRCm39) missense probably damaging 0.97
R5569:Tmprss6 UTSW 15 78,324,503 (GRCm39) missense probably damaging 1.00
R5572:Tmprss6 UTSW 15 78,326,622 (GRCm39) missense probably damaging 1.00
R5669:Tmprss6 UTSW 15 78,339,156 (GRCm39) missense possibly damaging 0.86
R5947:Tmprss6 UTSW 15 78,336,722 (GRCm39) missense probably damaging 1.00
R6800:Tmprss6 UTSW 15 78,324,457 (GRCm39) missense probably damaging 1.00
R6941:Tmprss6 UTSW 15 78,330,977 (GRCm39) missense probably damaging 1.00
R6965:Tmprss6 UTSW 15 78,328,328 (GRCm39) missense probably damaging 1.00
R7334:Tmprss6 UTSW 15 78,328,017 (GRCm39) missense unknown
R7338:Tmprss6 UTSW 15 78,344,019 (GRCm39) missense probably damaging 1.00
R7622:Tmprss6 UTSW 15 78,330,926 (GRCm39) missense probably benign 0.40
R7926:Tmprss6 UTSW 15 78,337,050 (GRCm39) missense probably benign 0.28
R7992:Tmprss6 UTSW 15 78,326,664 (GRCm39) missense probably benign 0.11
R8177:Tmprss6 UTSW 15 78,349,327 (GRCm39) missense probably benign 0.01
R8792:Tmprss6 UTSW 15 78,328,328 (GRCm39) missense probably damaging 1.00
R8881:Tmprss6 UTSW 15 78,327,987 (GRCm39) makesense probably null
R9084:Tmprss6 UTSW 15 78,338,417 (GRCm39) missense probably damaging 0.98
R9384:Tmprss6 UTSW 15 78,328,302 (GRCm39) missense probably damaging 0.99
X0025:Tmprss6 UTSW 15 78,339,295 (GRCm39) missense possibly damaging 0.55
Predicted Primers PCR Primer
(F):5'- CAGGAGAGACTTTGCTGTCTTC -3'
(R):5'- CATCTCACGGTGAGTTCCTC -3'

Sequencing Primer
(F):5'- TCAGCCTCCGCTCACCAC -3'
(R):5'- AGCAATCCTTAGGGCTTCAG -3'
Posted On 2014-06-23