Incidental Mutation 'R6447:Tmprss11f'
ID 519225
Institutional Source Beutler Lab
Gene Symbol Tmprss11f
Ensembl Gene ENSMUSG00000048764
Gene Name transmembrane protease, serine 11f
Synonyms 4732406D01Rik
MMRRC Submission 044389-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.069) question?
Stock # R6447 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 86669757-86780283 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 86676086 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 365 (Y365C)
Ref Sequence ENSEMBL: ENSMUSP00000112252 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000116553]
AlphaFold Q8BHM9
Predicted Effect probably damaging
Transcript: ENSMUST00000116553
AA Change: Y365C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112252
Gene: ENSMUSG00000048764
AA Change: Y365C

DomainStartEndE-ValueType
transmembrane domain 31 53 N/A INTRINSIC
SEA 56 168 4.62e-2 SMART
low complexity region 192 203 N/A INTRINSIC
Tryp_SPc 206 433 8.7e-84 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 93.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm3 A G 3: 59,772,819 (GRCm39) I108V probably damaging Het
Axl C A 7: 25,469,708 (GRCm39) R476I probably damaging Het
Casr A G 16: 36,315,907 (GRCm39) L721P probably damaging Het
Cntn6 A T 6: 104,836,409 (GRCm39) H925L probably damaging Het
Csmd1 T C 8: 15,960,527 (GRCm39) Y3296C probably damaging Het
Dnah3 G A 7: 119,522,277 (GRCm39) T3972M probably benign Het
Ect2 A G 3: 27,169,633 (GRCm39) F740S probably damaging Het
Eif1ad10 T C 12: 88,216,494 (GRCm39) D126G unknown Het
Exoc1 T A 5: 76,691,364 (GRCm39) D222E probably damaging Het
Hdac2 T C 10: 36,869,812 (GRCm39) V258A possibly damaging Het
Lrrk1 A G 7: 65,952,476 (GRCm39) S487P probably benign Het
Lyplal1 A T 1: 185,821,639 (GRCm39) probably null Het
Nwd2 T A 5: 63,964,898 (GRCm39) I1494N probably benign Het
Pcdhb22 A G 18: 37,653,269 (GRCm39) E579G possibly damaging Het
Samd8 T C 14: 21,842,624 (GRCm39) probably null Het
Sccpdh A G 1: 179,506,453 (GRCm39) *131W probably null Het
Smarcal1 C T 1: 72,625,033 (GRCm39) S60L probably damaging Het
Stau2 A T 1: 16,460,049 (GRCm39) V264E possibly damaging Het
T T C 17: 8,660,463 (GRCm39) I217T possibly damaging Het
Tbc1d1 C T 5: 64,490,836 (GRCm39) L896F probably damaging Het
Thap1 CAGCATCTGCTCGGAGCA CAGCA 8: 26,650,884 (GRCm39) probably null Het
Trdv4 A G 14: 54,312,931 (GRCm39) T102A probably damaging Het
Vmn1r205 G T 13: 22,776,912 (GRCm39) N63K probably damaging Het
Vps13b T C 15: 35,572,272 (GRCm39) V963A probably benign Het
Zswim2 T C 2: 83,745,457 (GRCm39) probably null Het
Other mutations in Tmprss11f
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00777:Tmprss11f APN 5 86,671,924 (GRCm39) missense probably damaging 1.00
IGL01453:Tmprss11f APN 5 86,692,691 (GRCm39) nonsense probably null
IGL02406:Tmprss11f APN 5 86,681,525 (GRCm39) missense probably damaging 1.00
IGL03294:Tmprss11f APN 5 86,685,966 (GRCm39) missense probably damaging 1.00
R0122:Tmprss11f UTSW 5 86,681,484 (GRCm39) splice site probably benign
R0322:Tmprss11f UTSW 5 86,739,275 (GRCm39) missense probably benign 0.06
R0418:Tmprss11f UTSW 5 86,704,870 (GRCm39) missense probably benign 0.16
R1936:Tmprss11f UTSW 5 86,692,723 (GRCm39) missense probably benign 0.23
R2002:Tmprss11f UTSW 5 86,687,627 (GRCm39) splice site probably benign
R2008:Tmprss11f UTSW 5 86,739,265 (GRCm39) splice site probably null
R2260:Tmprss11f UTSW 5 86,739,269 (GRCm39) missense probably benign 0.22
R4109:Tmprss11f UTSW 5 86,677,795 (GRCm39) missense possibly damaging 0.89
R4584:Tmprss11f UTSW 5 86,687,553 (GRCm39) critical splice donor site probably null
R4983:Tmprss11f UTSW 5 86,685,858 (GRCm39) missense probably benign 0.06
R5034:Tmprss11f UTSW 5 86,739,243 (GRCm39) intron probably benign
R5116:Tmprss11f UTSW 5 86,687,555 (GRCm39) missense probably benign 0.01
R5254:Tmprss11f UTSW 5 86,685,892 (GRCm39) missense probably benign 0.00
R5324:Tmprss11f UTSW 5 86,704,837 (GRCm39) missense possibly damaging 0.95
R5410:Tmprss11f UTSW 5 86,677,965 (GRCm39) missense probably damaging 0.99
R5441:Tmprss11f UTSW 5 86,676,062 (GRCm39) missense probably damaging 1.00
R6143:Tmprss11f UTSW 5 86,687,558 (GRCm39) missense probably benign
R6178:Tmprss11f UTSW 5 86,704,837 (GRCm39) missense probably benign 0.00
R6239:Tmprss11f UTSW 5 86,681,636 (GRCm39) missense probably damaging 0.99
R6817:Tmprss11f UTSW 5 86,704,793 (GRCm39) missense probably benign
R7243:Tmprss11f UTSW 5 86,677,975 (GRCm39) missense probably damaging 1.00
R7314:Tmprss11f UTSW 5 86,671,912 (GRCm39) missense possibly damaging 0.55
R7623:Tmprss11f UTSW 5 86,672,019 (GRCm39) missense probably damaging 1.00
R7708:Tmprss11f UTSW 5 86,672,028 (GRCm39) missense probably damaging 1.00
R7776:Tmprss11f UTSW 5 86,681,605 (GRCm39) missense probably benign 0.21
R7955:Tmprss11f UTSW 5 86,692,682 (GRCm39) missense probably benign 0.13
R8046:Tmprss11f UTSW 5 86,676,132 (GRCm39) missense probably damaging 1.00
R8147:Tmprss11f UTSW 5 86,677,769 (GRCm39) missense probably damaging 1.00
R8209:Tmprss11f UTSW 5 86,687,566 (GRCm39) missense probably damaging 1.00
R8219:Tmprss11f UTSW 5 86,677,878 (GRCm39) missense probably damaging 1.00
R8343:Tmprss11f UTSW 5 86,681,666 (GRCm39) missense probably benign 0.25
R8873:Tmprss11f UTSW 5 86,692,733 (GRCm39) missense probably damaging 0.98
R8889:Tmprss11f UTSW 5 86,687,618 (GRCm39) missense possibly damaging 0.86
R8892:Tmprss11f UTSW 5 86,687,618 (GRCm39) missense possibly damaging 0.86
R9465:Tmprss11f UTSW 5 86,685,876 (GRCm39) missense probably damaging 0.97
Z1176:Tmprss11f UTSW 5 86,676,054 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTGAGTTAATGCACACCAAACACTC -3'
(R):5'- TGATCGGTCTTTCTGAGCATCC -3'

Sequencing Primer
(F):5'- TCAATACAATTGCCCCATGAGC -3'
(R):5'- GGTCTTTCTGAGCATCCAGTGAAAAC -3'
Posted On 2018-05-24