Incidental Mutation 'R5569:Tmprss6'
ID 435569
Institutional Source Beutler Lab
Gene Symbol Tmprss6
Ensembl Gene ENSMUSG00000016942
Gene Name transmembrane serine protease 6
Synonyms matriptase-2, 1300008A22Rik
MMRRC Submission 043126-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.067) question?
Stock # R5569 (G1)
Quality Score 210
Status Not validated
Chromosome 15
Chromosomal Location 78323867-78352834 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 78324503 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Glycine at position 771 (W771G)
Ref Sequence ENSEMBL: ENSMUSP00000155401 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017086] [ENSMUST00000089414] [ENSMUST00000159771] [ENSMUST00000162321] [ENSMUST00000230226] [ENSMUST00000230020] [ENSMUST00000229622] [ENSMUST00000229516] [ENSMUST00000229290] [ENSMUST00000166142] [ENSMUST00000230159] [ENSMUST00000162517] [ENSMUST00000229124]
AlphaFold Q9DBI0
Predicted Effect probably damaging
Transcript: ENSMUST00000017086
AA Change: W783G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000017086
Gene: ENSMUSG00000016942
AA Change: W783G

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: ENSMUST00000089414
SMART Domains Protein: ENSMUSP00000086835
Gene: ENSMUSG00000033287

DomainStartEndE-ValueType
low complexity region 12 30 N/A INTRINSIC
BTB 31 132 1.76e-16 SMART
coiled coil region 208 244 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000159771
SMART Domains Protein: ENSMUSP00000125574
Gene: ENSMUSG00000033287

DomainStartEndE-ValueType
low complexity region 5 23 N/A INTRINSIC
BTB 24 125 1.76e-16 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160916
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161016
Predicted Effect probably benign
Transcript: ENSMUST00000162321
SMART Domains Protein: ENSMUSP00000125680
Gene: ENSMUSG00000033287

DomainStartEndE-ValueType
BTB 3 86 9.93e-2 SMART
low complexity region 168 195 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162605
Predicted Effect probably damaging
Transcript: ENSMUST00000230226
AA Change: W771G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230473
Predicted Effect probably benign
Transcript: ENSMUST00000230020
Predicted Effect probably benign
Transcript: ENSMUST00000229622
Predicted Effect probably benign
Transcript: ENSMUST00000229516
Predicted Effect probably benign
Transcript: ENSMUST00000229290
Predicted Effect probably benign
Transcript: ENSMUST00000166142
SMART Domains Protein: ENSMUSP00000133210
Gene: ENSMUSG00000033287

DomainStartEndE-ValueType
low complexity region 12 30 N/A INTRINSIC
BTB 31 132 1.76e-16 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000230159
Predicted Effect probably benign
Transcript: ENSMUST00000162517
SMART Domains Protein: ENSMUSP00000124290
Gene: ENSMUSG00000033287

DomainStartEndE-ValueType
low complexity region 12 30 N/A INTRINSIC
BTB 31 132 1.76e-16 SMART
low complexity region 227 235 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000229124
Predicted Effect probably benign
Transcript: ENSMUST00000162808
SMART Domains Protein: ENSMUSP00000125421
Gene: ENSMUSG00000033287

DomainStartEndE-ValueType
SCOP:d3kvt__ 2 36 3e-8 SMART
Blast:BTB 2 98 6e-30 BLAST
PDB:3DRY|E 2 127 4e-69 PDB
low complexity region 130 157 N/A INTRINSIC
low complexity region 160 187 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.3%
  • 20x: 94.9%
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad10 A G 5: 121,764,143 (GRCm39) S929P probably damaging Het
Ackr3 A G 1: 90,142,563 (GRCm39) T341A probably benign Het
Acox3 A G 5: 35,760,377 (GRCm39) Y431C probably damaging Het
Adamtsl2 G A 2: 26,992,845 (GRCm39) V653M probably damaging Het
Anks6 T C 4: 47,045,007 (GRCm39) K300E probably damaging Het
Ap5z1 A T 5: 142,460,206 (GRCm39) D495V probably damaging Het
Atm A T 9: 53,427,750 (GRCm39) Y453* probably null Het
Atpaf2 A T 11: 60,307,706 (GRCm39) W11R probably damaging Het
Bhmt1b A C 18: 87,775,392 (GRCm39) Y305S probably damaging Het
Capn1 T A 19: 6,063,690 (GRCm39) T129S probably benign Het
Catspere2 A T 1: 177,939,162 (GRCm39) K678N possibly damaging Het
Cdh17 A G 4: 11,816,990 (GRCm39) I800M probably damaging Het
Cfap206 C T 4: 34,724,892 (GRCm39) R69Q probably damaging Het
Cp T C 3: 20,033,041 (GRCm39) Y623H probably damaging Het
Dcaf5 A T 12: 80,386,975 (GRCm39) Y384N probably damaging Het
Dhx9 A T 1: 153,342,838 (GRCm39) C555S possibly damaging Het
Dlg2 A G 7: 91,617,388 (GRCm39) T317A probably benign Het
Dsp C T 13: 38,376,628 (GRCm39) T1471I probably benign Het
Ebf1 A G 11: 44,883,228 (GRCm39) M489V possibly damaging Het
Enpp3 T C 10: 24,654,719 (GRCm39) D230G probably damaging Het
Eri3 T C 4: 117,506,553 (GRCm39) M294T possibly damaging Het
Fat1 T A 8: 45,492,873 (GRCm39) V3842E probably damaging Het
Fermt1 T A 2: 132,757,123 (GRCm39) Y569F possibly damaging Het
Fscn1 A G 5: 142,946,799 (GRCm39) D199G probably benign Het
Glce A G 9: 61,977,485 (GRCm39) V133A probably benign Het
Gtf2h3 C T 5: 124,722,360 (GRCm39) T121I probably benign Het
Hk1 A G 10: 62,122,220 (GRCm39) S520P probably benign Het
Ighv12-3 A G 12: 114,330,555 (GRCm39) V7A probably benign Het
Ighv6-7 C A 12: 114,419,476 (GRCm39) A43S probably damaging Het
Inf2 A G 12: 112,568,113 (GRCm39) I222V possibly damaging Het
Kmo T A 1: 175,482,688 (GRCm39) N337K probably benign Het
Mcf2l C T 8: 13,055,481 (GRCm39) R611W probably damaging Het
Mipep A T 14: 61,040,383 (GRCm39) H301L probably damaging Het
Mprip A T 11: 59,651,789 (GRCm39) E1831V probably damaging Het
Mrgpra3 T C 7: 47,239,759 (GRCm39) T56A probably benign Het
Mtmr14 G A 6: 113,217,246 (GRCm39) V53I probably damaging Het
Mycbp2 A T 14: 103,372,679 (GRCm39) W4056R probably damaging Het
Myl2 A T 5: 122,244,783 (GRCm39) D151V possibly damaging Het
Myo5c A T 9: 75,180,792 (GRCm39) D727V probably damaging Het
Or10s1 A G 9: 39,985,593 (GRCm39) M1V probably null Het
Or1e22 A T 11: 73,377,518 (GRCm39) I44N probably damaging Het
Or2ag12 A T 7: 106,277,690 (GRCm39) M1K probably null Het
Or56b1b T A 7: 108,164,772 (GRCm39) M77L probably benign Het
Or9s18 A G 13: 65,300,793 (GRCm39) T252A possibly damaging Het
Pabpc1l C T 2: 163,885,474 (GRCm39) T409I probably benign Het
Pcgf1 C T 6: 83,056,686 (GRCm39) R81* probably null Het
Pcgf2 A G 11: 97,583,193 (GRCm39) probably null Het
Phf14 T A 6: 11,934,015 (GRCm39) N292K probably damaging Het
Plin4 T C 17: 56,409,147 (GRCm39) T1358A probably benign Het
Pomgnt1 T C 4: 116,013,164 (GRCm39) S423P probably damaging Het
Prep G A 10: 44,973,533 (GRCm39) V214I probably benign Het
Ptger1 T C 8: 84,394,961 (GRCm39) probably null Het
Pus7 C T 5: 23,953,832 (GRCm39) G415D probably benign Het
Rbm44 C T 1: 91,096,460 (GRCm39) P940S probably damaging Het
Ripor1 A T 8: 106,344,147 (GRCm39) D427V probably damaging Het
Rp1 A G 1: 4,415,460 (GRCm39) I1884T probably damaging Het
Rpl15-ps6 T C 15: 52,341,624 (GRCm39) noncoding transcript Het
Serinc2 T C 4: 130,172,272 (GRCm39) R7G probably benign Het
Serpina6 A C 12: 103,620,719 (GRCm39) F10C possibly damaging Het
Skint5 T A 4: 113,545,903 (GRCm39) probably null Het
Slc66a3 T A 12: 17,045,629 (GRCm39) I114F possibly damaging Het
Slc6a4 A T 11: 76,914,081 (GRCm39) I544F possibly damaging Het
Spdye4b T C 5: 143,188,176 (GRCm39) M223T probably benign Het
Tbc1d17 A T 7: 44,497,755 (GRCm39) V39D probably damaging Het
Thbs3 T A 3: 89,126,770 (GRCm39) Y295N probably damaging Het
Themis G A 10: 28,657,887 (GRCm39) E152K possibly damaging Het
Tmem131 A T 1: 36,838,419 (GRCm39) I1502N probably benign Het
Tmem43 T A 6: 91,454,336 (GRCm39) M41K probably benign Het
Trp53tg5 T C 2: 164,313,256 (GRCm39) T140A probably benign Het
Uchl1 A G 5: 66,844,216 (GRCm39) E206G probably damaging Het
Vash2 A G 1: 190,692,488 (GRCm39) V229A possibly damaging Het
Vmn1r192 C A 13: 22,371,384 (GRCm39) A279S possibly damaging Het
Vmn1r32 T C 6: 66,530,156 (GRCm39) R207G probably damaging Het
Vmn2r14 T A 5: 109,368,261 (GRCm39) M244L probably benign Het
Vwa5b2 T A 16: 20,414,089 (GRCm39) H236Q probably damaging Het
Zfp652 C T 11: 95,640,116 (GRCm39) P14S probably benign Het
Zfp668 G A 7: 127,466,995 (GRCm39) R194* probably null Het
Zgrf1 G T 3: 127,354,674 (GRCm39) V98L probably benign 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
R1857:Tmprss6 UTSW 15 78,336,752 (GRCm39) missense probably damaging 1.00
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
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'- GCCCCAGAATACTTGTGTCCTG -3'
(R):5'- TAACTAGCTATGGGGTGTGTCC -3'

Sequencing Primer
(F):5'- CAGAATACTTGTGTCCTGGCTGG -3'
(R):5'- TCCCACTTTACAGATGGGGAG -3'
Posted On 2016-10-24