Incidental Mutation 'IGL01538:Tgm7'
ID90045
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tgm7
Ensembl Gene ENSMUSG00000079103
Gene Nametransglutaminase 7
SynonymsTGz
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.079) question?
Stock #IGL01538
Quality Score
Status
Chromosome2
Chromosomal Location121093565-121109795 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 121106915 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 76 (Y76F)
Ref Sequence ENSEMBL: ENSMUSP00000106303 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000110675]
Predicted Effect probably benign
Transcript: ENSMUST00000110675
AA Change: Y76F

PolyPhen 2 Score 0.159 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000106303
Gene: ENSMUSG00000079103
AA Change: Y76F

DomainStartEndE-ValueType
TGc 177 270 2.54e-42 SMART
SCOP:d1kv3a2 395 512 1e-33 SMART
Pfam:Transglut_C 514 612 1.7e-20 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Transglutaminases (TGM; EC 2.3.2.13) are a family of structurally and functionally related enzymes that stabilize protein assemblies through the formation of gamma-glutamyl-epsilon lysine crosslinks. For additional background information on transglutaminases, see TGM1 (MIM 190195).[supplied by OMIM, Jul 2002]
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930533K18Rik A G 10: 70,872,202 noncoding transcript Het
Abca3 G T 17: 24,376,473 C328F possibly damaging Het
Aldh5a1 T C 13: 24,918,512 N323D possibly damaging Het
Atp5c1 T C 2: 10,068,666 Y32C probably damaging Het
Capn3 T G 2: 120,502,186 probably null Het
Ccdc113 C A 8: 95,551,238 D275E probably benign Het
Ccdc40 T A 11: 119,242,719 F562I possibly damaging Het
Cd96 T C 16: 46,109,127 T152A possibly damaging Het
Cdh7 T A 1: 110,061,140 D257E probably damaging Het
Cilp2 T C 8: 69,881,204 D1048G probably benign Het
Clrn2 T G 5: 45,460,066 L93R probably damaging Het
Crat C A 2: 30,409,966 G134V probably damaging Het
Dis3 A T 14: 99,097,745 N140K probably benign Het
Dmxl2 T A 9: 54,445,376 probably benign Het
Dus1l T A 11: 120,793,079 Q181L probably damaging Het
Ece1 A G 4: 137,948,544 T410A probably benign Het
Gcc1 T A 6: 28,421,048 H90L probably damaging Het
Gm16602 G A 13: 19,336,570 probably benign Het
Gm1966 T C 7: 106,602,537 D500G probably damaging Het
Gpr152 T A 19: 4,142,952 V164E probably damaging Het
Grik3 A C 4: 125,694,036 I650L possibly damaging Het
Gzmm A T 10: 79,695,062 T233S probably benign Het
H2-Q4 T A 17: 35,383,312 V341D probably benign Het
Igsf21 A G 4: 140,027,718 probably benign Het
Kmt2d T C 15: 98,860,657 probably benign Het
Kntc1 T G 5: 123,781,658 V864G probably damaging Het
Lnx1 T C 5: 74,620,155 E235G possibly damaging Het
Man2b1 G T 8: 85,097,430 K985N probably benign Het
Map4k1 C A 7: 29,001,619 P670Q probably damaging Het
Mapk8ip1 C A 2: 92,388,974 probably null Het
Mettl16 T A 11: 74,792,267 Y178* probably null Het
Mrpl11 T A 19: 4,963,421 probably null Het
Nup85 T C 11: 115,569,714 S140P possibly damaging Het
Olfr1140 T C 2: 87,746,598 V134A probably benign Het
Olfr1301 T A 2: 111,755,005 V252E probably damaging Het
Olfr301 T C 7: 86,412,959 L199P possibly damaging Het
Olfr352 T C 2: 36,870,520 probably benign Het
Pcdhb2 T A 18: 37,295,322 L116* probably null Het
Pdcd7 C A 9: 65,346,703 R188S probably damaging Het
Pdk2 T C 11: 95,027,285 Y374C probably damaging Het
Ppp1r12a G T 10: 108,234,021 D224Y probably damaging Het
Ppp2r2d T A 7: 138,876,635 Y169N probably damaging Het
Prcp A C 7: 92,910,213 T162P probably benign Het
Prkd1 A G 12: 50,342,142 S873P probably benign Het
Ptpn2 T C 18: 67,681,553 T129A probably benign Het
Rtkn G A 6: 83,146,061 R68H probably damaging Het
Sall4 C T 2: 168,755,856 D355N probably damaging Het
Scn7a A G 2: 66,703,852 V493A probably benign Het
Sema4b G A 7: 80,215,696 A140T probably damaging Het
Shisa6 C A 11: 66,217,828 G408C possibly damaging Het
Slc7a9 G T 7: 35,454,164 V197F probably damaging Het
Spata2 A T 2: 167,484,151 D249E probably damaging Het
Stk36 T A 1: 74,633,638 V1013E probably benign Het
Tcp10a T C 17: 7,343,500 V336A probably damaging Het
Tfb2m A T 1: 179,537,844 V185D possibly damaging Het
Tph1 T C 7: 46,653,753 Y267C probably damaging Het
Ube2d1 A G 10: 71,255,826 probably benign Het
Vmn2r12 C A 5: 109,091,850 R282S probably damaging Het
Vps4a A G 8: 107,036,924 D72G probably benign Het
Wipf2 T A 11: 98,890,803 V56D possibly damaging Het
Wisp3 A G 10: 39,158,310 Y99H probably damaging Het
Zfp750 C A 11: 121,512,165 V586L probably benign Het
Zfp831 A G 2: 174,644,606 E358G possibly damaging Het
Other mutations in Tgm7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01576:Tgm7 APN 2 121101033 missense probably damaging 1.00
IGL01982:Tgm7 APN 2 121093625 nonsense probably null
IGL02077:Tgm7 APN 2 121103835 missense probably damaging 1.00
IGL02135:Tgm7 APN 2 121099038 missense possibly damaging 0.75
R0063:Tgm7 UTSW 2 121094096 missense probably benign 0.01
R0412:Tgm7 UTSW 2 121101065 missense probably damaging 1.00
R1869:Tgm7 UTSW 2 121101089 missense probably damaging 1.00
R2201:Tgm7 UTSW 2 121098581 missense probably damaging 1.00
R2276:Tgm7 UTSW 2 121098564 missense probably damaging 1.00
R2279:Tgm7 UTSW 2 121098564 missense probably damaging 1.00
R2872:Tgm7 UTSW 2 121109693 start gained probably benign
R2872:Tgm7 UTSW 2 121109693 start gained probably benign
R4523:Tgm7 UTSW 2 121098588 critical splice acceptor site probably null
R4688:Tgm7 UTSW 2 121094021 missense probably benign 0.06
R4757:Tgm7 UTSW 2 121096389 missense possibly damaging 0.75
R4858:Tgm7 UTSW 2 121098964 critical splice donor site probably null
R5132:Tgm7 UTSW 2 121104219 missense probably damaging 1.00
R5141:Tgm7 UTSW 2 121100999 missense probably benign 0.05
R5424:Tgm7 UTSW 2 121099041 missense probably damaging 1.00
R5911:Tgm7 UTSW 2 121095973 missense probably benign 0.27
R6166:Tgm7 UTSW 2 121099058 missense probably damaging 1.00
R6364:Tgm7 UTSW 2 121096397 nonsense probably null
R6636:Tgm7 UTSW 2 121101090 missense probably damaging 1.00
R6637:Tgm7 UTSW 2 121101090 missense probably damaging 1.00
R6950:Tgm7 UTSW 2 121093647 missense probably damaging 1.00
R7094:Tgm7 UTSW 2 121099008 missense probably damaging 1.00
R7536:Tgm7 UTSW 2 121096397 nonsense probably null
R7729:Tgm7 UTSW 2 121093710 missense probably benign
R7822:Tgm7 UTSW 2 121103940 missense probably benign
R8213:Tgm7 UTSW 2 121101064 missense probably damaging 0.99
R8511:Tgm7 UTSW 2 121093660 missense probably damaging 0.99
Posted On2013-12-03