Incidental Mutation 'IGL01357:Tmprss11c'
ID75565
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmprss11c
Ensembl Gene ENSMUSG00000061184
Gene Nametransmembrane protease, serine 11c
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.100) question?
Stock #IGL01357
Quality Score
Status
Chromosome5
Chromosomal Location86231481-86289308 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 86231807 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 401 (V401A)
Ref Sequence ENSEMBL: ENSMUSP00000142902 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059424] [ENSMUST00000196462]
Predicted Effect probably damaging
Transcript: ENSMUST00000059424
AA Change: V414A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000062915
Gene: ENSMUSG00000061184
AA Change: V414A

DomainStartEndE-ValueType
transmembrane domain 34 56 N/A INTRINSIC
SEA 58 183 5.19e-3 SMART
Tryp_SPc 199 425 8.42e-91 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000196462
AA Change: V401A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000142902
Gene: ENSMUSG00000061184
AA Change: V401A

DomainStartEndE-ValueType
transmembrane domain 34 56 N/A INTRINSIC
SEA 58 176 3.6e-4 SMART
Tryp_SPc 186 412 4.1e-93 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310022B05Rik C A 8: 124,639,333 V224F probably damaging Het
Abca4 T A 3: 122,103,583 M637K probably damaging Het
Abca8a A G 11: 110,031,572 V1395A probably benign Het
Adam20 A C 8: 40,796,560 D569A probably benign Het
Axl A G 7: 25,774,169 L344P probably benign Het
B3gat1 T C 9: 26,756,987 L291P probably damaging Het
Cdc25c A T 18: 34,734,857 probably null Het
Crat A T 2: 30,407,724 Y263N probably damaging Het
Crb2 A G 2: 37,795,511 probably benign Het
Dhx33 G A 11: 70,993,861 Q40* probably null Het
Dnah7a A T 1: 53,662,381 V205D probably benign Het
Emsy A T 7: 98,590,870 Y1011* probably null Het
Fbln5 C T 12: 101,750,887 S414N probably damaging Het
Fev T C 1: 74,882,524 E89G possibly damaging Het
Fgg A G 3: 83,014,228 E406G possibly damaging Het
Glra1 A T 11: 55,514,889 M425K possibly damaging Het
Gm8214 C T 1: 183,681,932 noncoding transcript Het
Kdm3b A G 18: 34,793,014 E69G probably damaging Het
Kntc1 T A 5: 123,757,814 V89E probably damaging Het
L3mbtl3 T A 10: 26,330,185 N361I unknown Het
Macrod2 A G 2: 142,384,330 N457S probably damaging Het
Mal C A 2: 127,640,314 M56I probably damaging Het
Mfsd5 C T 15: 102,281,447 T418M probably benign Het
Mmaa C A 8: 79,267,971 R402L probably benign Het
Myo15 T C 11: 60,502,289 probably benign Het
Nme1 A G 11: 93,959,491 S122P possibly damaging Het
Nxt1 A G 2: 148,675,396 E19G probably damaging Het
Nynrin A T 14: 55,870,417 T994S probably benign Het
Orc2 T G 1: 58,497,392 E56D probably benign Het
Orc2 T C 1: 58,497,393 E56G probably benign Het
Pid1 G A 1: 84,038,305 T113I probably damaging Het
Plcg2 G A 8: 117,614,161 probably benign Het
Rad50 A G 11: 53,707,021 V12A probably damaging Het
Serpinb9c C T 13: 33,151,879 V197I probably benign Het
Sfxn2 A T 19: 46,585,773 N134I probably damaging Het
Spen T C 4: 141,517,113 R204G unknown Het
Strip2 A G 6: 29,939,167 probably benign Het
Tas2r135 A T 6: 42,406,144 I206L probably benign Het
Tmem243 A G 5: 9,101,348 T11A probably damaging Het
Trim50 T A 5: 135,363,954 I241N probably damaging Het
Ttn A C 2: 76,951,520 S1015A possibly damaging Het
Wee1 T C 7: 110,142,035 S622P probably benign Het
Other mutations in Tmprss11c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00155:Tmprss11c APN 5 86239395 missense probably benign 0.00
IGL01809:Tmprss11c APN 5 86237662 missense possibly damaging 0.89
IGL02972:Tmprss11c APN 5 86237833 missense possibly damaging 0.77
IGL03135:Tmprss11c APN 5 86237650 missense probably damaging 1.00
IGL03255:Tmprss11c APN 5 86271482 missense probably damaging 0.99
IGL03355:Tmprss11c APN 5 86231871 missense probably benign 0.03
R0165:Tmprss11c UTSW 5 86231927 splice site probably benign
R0285:Tmprss11c UTSW 5 86271430 missense probably damaging 1.00
R0480:Tmprss11c UTSW 5 86237609 splice site probably benign
R0639:Tmprss11c UTSW 5 86235469 missense probably damaging 1.00
R1554:Tmprss11c UTSW 5 86289260 start codon destroyed possibly damaging 0.59
R1651:Tmprss11c UTSW 5 86239424 missense probably damaging 1.00
R2234:Tmprss11c UTSW 5 86282086 missense probably benign 0.12
R2235:Tmprss11c UTSW 5 86282086 missense probably benign 0.12
R2698:Tmprss11c UTSW 5 86271463 missense probably damaging 1.00
R4787:Tmprss11c UTSW 5 86256453 missense probably benign 0.00
R4962:Tmprss11c UTSW 5 86237710 missense probably damaging 1.00
R5063:Tmprss11c UTSW 5 86237830 missense probably benign 0.28
R5217:Tmprss11c UTSW 5 86256390 missense probably benign
R5366:Tmprss11c UTSW 5 86282134 missense possibly damaging 0.93
R6343:Tmprss11c UTSW 5 86256345 missense probably damaging 1.00
R6598:Tmprss11c UTSW 5 86289233 missense probably benign 0.01
R6681:Tmprss11c UTSW 5 86289260 start codon destroyed possibly damaging 0.59
R7170:Tmprss11c UTSW 5 86237619 critical splice donor site probably null
R7198:Tmprss11c UTSW 5 86231832 missense probably damaging 1.00
R7258:Tmprss11c UTSW 5 86271413 missense probably damaging 1.00
Posted On2013-10-07