Incidental Mutation 'IGL02417:Tmprss11g'
ID292496
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmprss11g
Ensembl Gene ENSMUSG00000079451
Gene Nametransmembrane protease, serine 11g
SynonymsDesc4, 9930032O22Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.067) question?
Stock #IGL02417
Quality Score
Status
Chromosome5
Chromosomal Location86485876-86518600 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 86490891 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 246 (V246A)
Ref Sequence ENSEMBL: ENSMUSP00000115540 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000134179] [ENSMUST00000140095]
Predicted Effect probably benign
Transcript: ENSMUST00000134179
AA Change: V259A

PolyPhen 2 Score 0.255 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000122709
Gene: ENSMUSG00000079451
AA Change: V259A

DomainStartEndE-ValueType
transmembrane domain 21 43 N/A INTRINSIC
Pfam:SEA 48 150 1.5e-25 PFAM
Tryp_SPc 185 411 1.39e-82 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000140095
AA Change: V246A

PolyPhen 2 Score 0.255 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000115540
Gene: ENSMUSG00000079451
AA Change: V246A

DomainStartEndE-ValueType
transmembrane domain 21 43 N/A INTRINSIC
Pfam:SEA 45 154 1.3e-19 PFAM
Tryp_SPc 172 398 1.39e-82 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199703
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap5 T A 12: 52,518,353 N702K probably damaging Het
Atm T C 9: 53,479,695 T1860A probably benign Het
Bicdl1 A T 5: 115,673,158 H231Q probably damaging Het
C2cd5 A C 6: 143,041,492 D470E probably damaging Het
Chd5 T C 4: 152,367,294 F688L probably damaging Het
Cul3 T C 1: 80,322,902 Y74C probably damaging Het
Dhx16 A G 17: 35,892,537 E1042G probably damaging Het
Dnah11 A G 12: 118,057,180 L1966P probably damaging Het
Dpy19l1 A T 9: 24,475,386 I204N possibly damaging Het
Drd2 T C 9: 49,402,259 probably benign Het
Fasn A G 11: 120,820,340 V228A probably damaging Het
Fggy T C 4: 95,849,609 W148R probably benign Het
Gm9631 G A 11: 121,943,652 Het
Gpr89 A T 3: 96,897,425 Y38* probably null Het
H2-M1 G A 17: 36,672,134 H22Y possibly damaging Het
Kdm3b T A 18: 34,808,577 S574T probably benign Het
Kmt2c C T 5: 25,373,020 V753I probably benign Het
Lcn9 T C 2: 25,823,680 F73L possibly damaging Het
Lnpep T C 17: 17,544,903 T762A possibly damaging Het
Lrp2 C T 2: 69,461,305 C3510Y probably damaging Het
Nlrp3 T A 11: 59,566,023 probably benign Het
Olfr1469 A G 19: 13,410,895 T109A possibly damaging Het
Olfr292 A G 7: 86,694,819 Y121C probably damaging Het
Olfr347 A T 2: 36,734,344 I8F probably benign Het
Pcnx3 A T 19: 5,686,481 V176E possibly damaging Het
Phlpp1 T C 1: 106,392,714 S1480P probably benign Het
Ppfia3 T C 7: 45,341,717 R1027G probably damaging Het
Rnf216 A G 5: 143,068,910 Y628H possibly damaging Het
Sh3bp1 G A 15: 78,901,499 R4Q probably damaging Het
Skint9 A G 4: 112,414,138 probably benign Het
Slc25a51 A G 4: 45,400,074 S39P probably benign Het
Smarca4 C T 9: 21,701,090 R1558C probably damaging Het
Spag9 A G 11: 94,116,741 S1224G probably benign Het
Spdl1 G T 11: 34,813,354 Q551K probably benign Het
Sugt1 A G 14: 79,610,258 I183V probably benign Het
Th G A 7: 142,899,906 S19L probably damaging Het
Tnfaip8l2 T C 3: 95,140,403 T50A probably benign Het
Tox3 G T 8: 90,258,131 T140K possibly damaging Het
Unc50 T A 1: 37,437,450 Y205* probably null Het
Vmn2r83 A T 10: 79,479,047 K376N probably benign Het
Other mutations in Tmprss11g
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00423:Tmprss11g APN 5 86492191 missense probably benign 0.00
IGL01611:Tmprss11g APN 5 86490781 missense probably benign 0.02
IGL02677:Tmprss11g APN 5 86492290 missense probably benign
IGL02832:Tmprss11g APN 5 86497269 missense probably benign 0.23
IGL02887:Tmprss11g APN 5 86497329 splice site probably benign
R0377:Tmprss11g UTSW 5 86490751 missense probably damaging 0.98
R0847:Tmprss11g UTSW 5 86490726 missense probably benign 0.01
R1037:Tmprss11g UTSW 5 86490747 missense probably damaging 1.00
R1507:Tmprss11g UTSW 5 86499611 missense probably benign 0.09
R1617:Tmprss11g UTSW 5 86499563 missense probably damaging 0.99
R1955:Tmprss11g UTSW 5 86498532 missense probably damaging 0.99
R2094:Tmprss11g UTSW 5 86499556 missense probably damaging 1.00
R2906:Tmprss11g UTSW 5 86492802 intron probably benign
R4730:Tmprss11g UTSW 5 86489232 nonsense probably null
R4730:Tmprss11g UTSW 5 86489233 missense probably damaging 1.00
R4934:Tmprss11g UTSW 5 86496542 missense probably benign
R4982:Tmprss11g UTSW 5 86492815 missense probably damaging 1.00
R5086:Tmprss11g UTSW 5 86496518 missense possibly damaging 0.65
R5606:Tmprss11g UTSW 5 86487410 missense probably damaging 1.00
R5825:Tmprss11g UTSW 5 86498533 missense probably damaging 0.98
R6291:Tmprss11g UTSW 5 86487422 missense probably damaging 1.00
R6481:Tmprss11g UTSW 5 86492156 missense probably benign 0.20
R6849:Tmprss11g UTSW 5 86496632 missense probably benign 0.01
R6925:Tmprss11g UTSW 5 86487426 missense probably benign 0.09
R6925:Tmprss11g UTSW 5 86487436 missense probably benign 0.00
R7084:Tmprss11g UTSW 5 86492200 missense probably damaging 1.00
R7089:Tmprss11g UTSW 5 86489291 missense probably damaging 0.97
R7190:Tmprss11g UTSW 5 86496632 missense probably benign 0.18
R7352:Tmprss11g UTSW 5 86496542 missense not run
R7432:Tmprss11g UTSW 5 86496507 missense possibly damaging 0.71
R7514:Tmprss11g UTSW 5 86497317 missense probably damaging 1.00
Posted On2015-04-16