Incidental Mutation 'R7018:Tmprss11a'
ID 545444
Institutional Source Beutler Lab
Gene Symbol Tmprss11a
Ensembl Gene ENSMUSG00000072845
Gene Name transmembrane protease, serine 11a
Synonyms LOC194597
MMRRC Submission 045119-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7018 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 86558269-86616849 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 86576429 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 141 (V141I)
Ref Sequence ENSEMBL: ENSMUSP00000098634 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000101073]
AlphaFold Q3UQ41
Predicted Effect probably damaging
Transcript: ENSMUST00000101073
AA Change: V141I

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000098634
Gene: ENSMUSG00000072845
AA Change: V141I

DomainStartEndE-ValueType
low complexity region 17 32 N/A INTRINSIC
Pfam:SEA 36 135 3.2e-23 PFAM
Tryp_SPc 157 383 1.98e-87 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 100% (64/64)
MGI Phenotype PHENOTYPE: Homozygous mice for a targeted mutation appear normal. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apcdd1 G T 18: 63,070,120 (GRCm39) R129L probably damaging Het
Arhgef28 C T 13: 98,101,943 (GRCm39) V844I probably damaging Het
Arhgef5 T C 6: 43,265,665 (GRCm39) V1569A probably damaging Het
Atr T A 9: 95,748,747 (GRCm39) S431T probably benign Het
Cdh11 T C 8: 103,360,953 (GRCm39) D795G possibly damaging Het
Crygf T C 1: 65,967,130 (GRCm39) S85P probably benign Het
Dip2c T A 13: 9,709,314 (GRCm39) Y1385N probably damaging Het
Dnah14 G A 1: 181,454,509 (GRCm39) V840I possibly damaging Het
Dsg1a T C 18: 20,461,795 (GRCm39) F299L possibly damaging Het
Fgfr4 A T 13: 55,314,013 (GRCm39) S576C probably damaging Het
Frmd8 T C 19: 5,919,546 (GRCm39) D167G probably damaging Het
Gm5105 G A 3: 137,755,319 (GRCm39) T89I unknown Het
Grhl1 C T 12: 24,625,996 (GRCm39) S35L possibly damaging Het
Gsn A G 2: 35,183,518 (GRCm39) E242G probably benign Het
Hcrtr1 A G 4: 130,029,661 (GRCm39) I140T probably damaging Het
Ifnlr1 T C 4: 135,431,135 (GRCm39) Y208H possibly damaging Het
Ighv1-58 T C 12: 115,275,985 (GRCm39) Y51C probably damaging Het
Iqcj T A 3: 67,948,580 (GRCm39) Y21* probably null Het
Kcnc4 T C 3: 107,366,178 (GRCm39) Y10C probably benign Het
Kcnk7 G T 19: 5,756,160 (GRCm39) G129W probably damaging Het
Kcnq2 T A 2: 180,723,517 (GRCm39) R620* probably null Het
Klk13 C A 7: 43,376,126 (GRCm39) P267Q probably benign Het
Krt1 AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC 15: 101,758,813 (GRCm39) probably benign Het
L3mbtl4 G A 17: 68,793,938 (GRCm39) R314H probably damaging Het
Lamc2 T A 1: 153,012,488 (GRCm39) M729L probably benign Het
Lyst T G 13: 13,918,044 (GRCm39) probably null Het
Med13l G A 5: 118,890,051 (GRCm39) R1909H probably damaging Het
Mstn T A 1: 53,103,243 (GRCm39) L193Q possibly damaging Het
Mylk T C 16: 34,820,796 (GRCm39) V125A possibly damaging Het
Nalcn T A 14: 123,647,233 (GRCm39) M547L probably damaging Het
Nckap5 A G 1: 125,952,785 (GRCm39) S1256P probably damaging Het
Nkain1 T C 4: 130,532,118 (GRCm38) Y189C probably damaging Het
Oosp3 T A 19: 11,676,783 (GRCm39) D47E probably benign Het
Or14j8 A T 17: 38,263,393 (GRCm39) I174N probably damaging Het
Or5d37 T A 2: 87,923,600 (GRCm39) I227F probably benign Het
Or5h25 A G 16: 58,930,970 (GRCm39) M1T probably null Het
Or5p66 T G 7: 107,885,551 (GRCm39) I261L probably benign Het
Pcdh15 G T 10: 74,302,186 (GRCm39) G942W probably damaging Het
Pcyox1l C A 18: 61,840,625 (GRCm39) probably benign Het
Peg3 T C 7: 6,711,838 (GRCm39) E1128G possibly damaging Het
Pkd1l3 GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA 8: 110,350,827 (GRCm39) probably benign Het
Plscr1 T A 9: 92,146,715 (GRCm39) V119D probably damaging Het
Prss56 A T 1: 87,113,670 (GRCm39) D258V possibly damaging Het
Ptpn23 T G 9: 110,214,884 (GRCm39) K85Q possibly damaging Het
Ranbp3l C A 15: 9,037,159 (GRCm39) S7Y probably benign Het
Rnf31 T C 14: 55,829,690 (GRCm39) L85P probably damaging Het
Rptn T C 3: 93,305,207 (GRCm39) C847R possibly damaging Het
Six4 T A 12: 73,155,727 (GRCm39) E413D probably benign Het
Slc30a2 G A 4: 134,074,726 (GRCm39) R161Q probably damaging Het
Sned1 T C 1: 93,212,143 (GRCm39) V1115A probably damaging Het
Spen T C 4: 141,220,755 (GRCm39) K401E unknown Het
Srbd1 T A 17: 86,443,843 (GRCm39) R128W possibly damaging Het
Strc A T 2: 121,199,539 (GRCm39) I1300N probably damaging Het
Susd1 T G 4: 59,390,627 (GRCm39) T230P probably benign Het
Thumpd2 G T 17: 81,363,326 (GRCm39) S47* probably null Het
Tmprss15 T C 16: 78,821,741 (GRCm39) Y438C possibly damaging Het
Tnfrsf1a T C 6: 125,333,914 (GRCm39) S56P probably damaging Het
Ttc39d T C 17: 80,523,610 (GRCm39) W90R probably benign Het
Utp25 A G 1: 192,797,163 (GRCm39) I563T probably benign Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Wdr20rt A T 12: 65,272,536 (GRCm39) probably null Het
Zfp646 C A 7: 127,481,494 (GRCm39) Q1224K probably benign Het
Other mutations in Tmprss11a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01596:Tmprss11a APN 5 86,570,378 (GRCm39) missense probably damaging 1.00
IGL02413:Tmprss11a APN 5 86,570,507 (GRCm39) missense possibly damaging 0.50
IGL02533:Tmprss11a APN 5 86,562,386 (GRCm39) missense probably damaging 0.96
R1202:Tmprss11a UTSW 5 86,559,784 (GRCm39) critical splice acceptor site probably null
R1273:Tmprss11a UTSW 5 86,562,447 (GRCm39) missense probably benign 0.10
R1704:Tmprss11a UTSW 5 86,576,561 (GRCm39) missense probably benign 0.25
R1756:Tmprss11a UTSW 5 86,568,038 (GRCm39) missense probably damaging 1.00
R1783:Tmprss11a UTSW 5 86,567,891 (GRCm39) missense probably damaging 0.98
R1967:Tmprss11a UTSW 5 86,579,702 (GRCm39) missense probably benign 0.23
R2944:Tmprss11a UTSW 5 86,576,511 (GRCm39) missense probably benign 0.19
R3881:Tmprss11a UTSW 5 86,593,664 (GRCm39) missense possibly damaging 0.85
R4512:Tmprss11a UTSW 5 86,576,437 (GRCm39) missense probably benign 0.00
R4515:Tmprss11a UTSW 5 86,568,055 (GRCm39) missense probably damaging 1.00
R4530:Tmprss11a UTSW 5 86,576,540 (GRCm39) missense possibly damaging 0.79
R4543:Tmprss11a UTSW 5 86,559,668 (GRCm39) nonsense probably null
R4881:Tmprss11a UTSW 5 86,570,432 (GRCm39) missense probably damaging 1.00
R5066:Tmprss11a UTSW 5 86,567,859 (GRCm39) critical splice donor site probably null
R5186:Tmprss11a UTSW 5 86,567,938 (GRCm39) missense probably damaging 1.00
R5254:Tmprss11a UTSW 5 86,559,665 (GRCm39) missense probably damaging 0.99
R5313:Tmprss11a UTSW 5 86,559,674 (GRCm39) missense probably damaging 1.00
R6516:Tmprss11a UTSW 5 86,567,987 (GRCm39) missense probably damaging 1.00
R6920:Tmprss11a UTSW 5 86,576,494 (GRCm39) missense probably benign 0.23
R7566:Tmprss11a UTSW 5 86,591,993 (GRCm39) missense possibly damaging 0.50
R7962:Tmprss11a UTSW 5 86,567,879 (GRCm39) missense probably damaging 1.00
R9299:Tmprss11a UTSW 5 86,570,361 (GRCm39) nonsense probably null
R9479:Tmprss11a UTSW 5 86,562,402 (GRCm39) nonsense probably null
R9529:Tmprss11a UTSW 5 86,576,501 (GRCm39) missense probably benign 0.00
R9591:Tmprss11a UTSW 5 86,567,897 (GRCm39) missense possibly damaging 0.79
X0057:Tmprss11a UTSW 5 86,593,667 (GRCm39) missense probably benign 0.03
X0063:Tmprss11a UTSW 5 86,562,437 (GRCm39) missense probably damaging 1.00
Z1176:Tmprss11a UTSW 5 86,576,490 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GATGAGCACCAATCAGTTACTTCC -3'
(R):5'- GAATGTGAACCCTGCTCTTGTG -3'

Sequencing Primer
(F):5'- GTTACTTCCAGGAAAACCAACTTG -3'
(R):5'- TGTGTTTCCCAGACCAGAAG -3'
Posted On 2019-05-13