Incidental Mutation 'IGL02500:Tmprss11b'
ID296025
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmprss11b
Ensembl Gene ENSMUSG00000035861
Gene Nametransmembrane protease, serine 11B
SynonymsTmprss11bnl, 9930019B18Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02500
Quality Score
Status
Chromosome5
Chromosomal Location86657631-86676362 bp(-) (GRCm38)
Type of Mutationcritical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to T at 86667323 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000042406 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038448]
Predicted Effect probably null
Transcript: ENSMUST00000038448
SMART Domains Protein: ENSMUSP00000042406
Gene: ENSMUSG00000035861

DomainStartEndE-ValueType
transmembrane domain 12 34 N/A INTRINSIC
Pfam:SEA 46 148 2.3e-26 PFAM
Tryp_SPc 184 410 6.19e-89 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc4 A T 14: 118,618,926 I409N possibly damaging Het
Aoc3 T A 11: 101,337,389 L674* probably null Het
Arhgef10 G A 8: 14,961,238 E265K probably damaging Het
Cd53 A G 3: 106,768,826 I75T probably damaging Het
Col26a1 A T 5: 136,754,339 L235* probably null Het
Crem G T 18: 3,273,477 Q60K probably damaging Het
Cyp2j8 T C 4: 96,470,650 D344G probably damaging Het
Cyr61 T C 3: 145,648,700 K152R probably damaging Het
Dchs1 T C 7: 105,755,806 T2510A probably benign Het
Dnajc4 T C 19: 6,988,088 Q215R possibly damaging Het
Espl1 A G 15: 102,315,800 H1262R probably benign Het
Exoc2 G T 13: 30,911,196 T239K probably damaging Het
Fzd6 A T 15: 39,031,386 S316C probably damaging Het
Htra1 A G 7: 130,984,974 K429R probably benign Het
Il1rapl2 C T X: 138,846,503 T647I possibly damaging Het
Kcnn3 T A 3: 89,661,112 probably benign Het
Kiz G A 2: 146,863,813 V98I probably benign Het
Klk1b24 A T 7: 44,188,324 probably benign Het
Lrrc30 T A 17: 67,631,862 N241I probably damaging Het
Map2k4 A G 11: 65,696,310 V288A probably damaging Het
Mefv T C 16: 3,713,577 H459R probably damaging Het
Mettl21a G T 1: 64,608,054 Q115K probably benign Het
Msra A G 14: 64,285,188 probably benign Het
Myh8 G A 11: 67,305,710 R1752H probably benign Het
Nrp1 T C 8: 128,425,799 F163S possibly damaging Het
Ntng1 T A 3: 110,135,330 Y60F probably damaging Het
Pax6 G T 2: 105,692,770 R317L probably benign Het
Pcdh17 A G 14: 84,533,469 E1129G probably benign Het
Phlpp2 C T 8: 109,913,618 H472Y probably benign Het
Pip5k1c C A 10: 81,317,321 probably null Het
Prkce A G 17: 86,168,914 N108D probably benign Het
Prkdc T G 16: 15,714,282 probably null Het
Ptprm T C 17: 66,920,048 Y702C probably damaging Het
Rbbp8nl T C 2: 180,279,329 T421A possibly damaging Het
Retnlg A T 16: 48,872,960 L33F probably benign Het
Slc16a7 T A 10: 125,230,933 Y279F probably damaging Het
Slc8a1 T C 17: 81,388,713 Y964C probably damaging Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Sspo C A 6: 48,478,379 C3047* probably null Het
Txnrd1 T G 10: 82,879,217 W98G probably damaging Het
Ulk1 A T 5: 110,809,134 I66N probably damaging Het
Ush2a A G 1: 188,822,696 Y3557C probably damaging Het
Vmn2r57 T A 7: 41,428,226 H172L probably benign Het
Zfp518a G A 19: 40,914,617 G997R probably damaging Het
Zfp592 T A 7: 81,041,726 C1218S probably benign Het
Other mutations in Tmprss11b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01122:Tmprss11b APN 5 86663517 missense probably benign
IGL02340:Tmprss11b APN 5 86662231 missense probably benign
R0356:Tmprss11b UTSW 5 86660467 makesense probably null
R0506:Tmprss11b UTSW 5 86661640 missense probably damaging 1.00
R0528:Tmprss11b UTSW 5 86671894 missense probably damaging 1.00
R1424:Tmprss11b UTSW 5 86664973 missense probably benign 0.09
R1471:Tmprss11b UTSW 5 86660496 missense possibly damaging 0.76
R1554:Tmprss11b UTSW 5 86661631 missense probably benign 0.01
R3436:Tmprss11b UTSW 5 86667584 nonsense probably null
R3829:Tmprss11b UTSW 5 86661590 missense probably damaging 0.98
R4409:Tmprss11b UTSW 5 86664278 missense probably benign 0.26
R4495:Tmprss11b UTSW 5 86665063 nonsense probably null
R4624:Tmprss11b UTSW 5 86665036 missense probably benign 0.04
R4834:Tmprss11b UTSW 5 86663559 missense probably damaging 1.00
R5436:Tmprss11b UTSW 5 86662233 missense probably benign 0.10
R5812:Tmprss11b UTSW 5 86665098 missense possibly damaging 0.67
R6262:Tmprss11b UTSW 5 86662260 missense probably benign 0.07
R6882:Tmprss11b UTSW 5 86671671 intron probably null
R6893:Tmprss11b UTSW 5 86663386 critical splice donor site probably null
R7312:Tmprss11b UTSW 5 86664314 missense probably damaging 1.00
X0067:Tmprss11b UTSW 5 86662200 missense probably damaging 1.00
Posted On2015-04-16