Incidental Mutation 'IGL03339:Tlcd4'
ID 417163
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tlcd4
Ensembl Gene ENSMUSG00000028132
Gene Name TLC domain containing 4
Synonyms C730036B01Rik, 4930577M16Rik, Tmem56
Accession Numbers
Essential gene? Probably non essential (E-score: 0.083) question?
Stock # IGL03339
Quality Score
Status
Chromosome 3
Chromosomal Location 120995657-121076756 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) C to T at 121022489 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000120821 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029777] [ENSMUST00000128909] [ENSMUST00000135818] [ENSMUST00000137234] [ENSMUST00000155309]
AlphaFold Q8CGF5
Predicted Effect probably benign
Transcript: ENSMUST00000029777
SMART Domains Protein: ENSMUSP00000029777
Gene: ENSMUSG00000028132

DomainStartEndE-ValueType
transmembrane domain 20 42 N/A INTRINSIC
TLC 57 259 1.5e-47 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000128909
SMART Domains Protein: ENSMUSP00000119468
Gene: ENSMUSG00000028132

DomainStartEndE-ValueType
transmembrane domain 20 42 N/A INTRINSIC
TLC 57 259 1.5e-47 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000135818
SMART Domains Protein: ENSMUSP00000114755
Gene: ENSMUSG00000028132

DomainStartEndE-ValueType
transmembrane domain 20 42 N/A INTRINSIC
TLC 57 231 4.68e-26 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000137234
SMART Domains Protein: ENSMUSP00000122001
Gene: ENSMUSG00000028132

DomainStartEndE-ValueType
transmembrane domain 20 42 N/A INTRINSIC
Pfam:TRAM_LAG1_CLN8 61 138 7.8e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000155309
SMART Domains Protein: ENSMUSP00000120821
Gene: ENSMUSG00000028132

DomainStartEndE-ValueType
transmembrane domain 20 42 N/A INTRINSIC
TLC 57 259 1.5e-47 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200402
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6820408C15Rik A G 2: 152,284,376 (GRCm39) E323G probably damaging Het
A4gnt T C 9: 99,502,601 (GRCm39) S254P probably damaging Het
Actn4 A G 7: 28,601,407 (GRCm39) L447P probably damaging Het
Agbl2 C A 2: 90,627,907 (GRCm39) S237R probably damaging Het
Apc G A 18: 34,431,527 (GRCm39) D309N probably damaging Het
Arhgef3 A G 14: 27,123,814 (GRCm39) M492V probably damaging Het
Atp10b T A 11: 43,121,442 (GRCm39) M1035K probably null Het
Cfap69 T A 5: 5,636,436 (GRCm39) probably benign Het
Ctf1 A G 7: 127,313,166 (GRCm39) N24S probably benign Het
Cx3cr1 T A 9: 119,880,503 (GRCm39) K300* probably null Het
Ddx25 A T 9: 35,453,299 (GRCm39) Y484N probably damaging Het
Eif4g1 A G 16: 20,499,734 (GRCm39) E506G possibly damaging Het
Ficd G T 5: 113,876,800 (GRCm39) R325L probably benign Het
G6pc2 A G 2: 69,051,239 (GRCm39) probably benign Het
Gm11168 C A 9: 3,004,767 (GRCm39) P103T probably benign Het
Hbb-y A T 7: 103,501,976 (GRCm39) H98Q probably damaging Het
Hmcn1 A G 1: 150,577,720 (GRCm39) S2014P probably benign Het
Hoxc5 T C 15: 102,922,568 (GRCm39) Y19H probably damaging Het
Igfbpl1 A G 4: 45,813,555 (GRCm39) probably benign Het
Ighg2c A C 12: 113,251,614 (GRCm39) V171G unknown Het
Kctd13 A G 7: 126,544,190 (GRCm39) D296G probably benign Het
Mfsd2b A C 12: 4,924,335 (GRCm39) M1R probably null Het
Nipbl A G 15: 8,380,360 (GRCm39) S811P probably benign Het
Or10al2 G A 17: 37,983,448 (GRCm39) C178Y possibly damaging Het
Or10al3 G T 17: 38,011,682 (GRCm39) M40I probably damaging Het
Or52r1 G A 7: 102,536,989 (GRCm39) R124C probably benign Het
Or5b122 T G 19: 13,563,439 (GRCm39) M257R probably damaging Het
Pcolce2 T C 9: 95,560,393 (GRCm39) probably benign Het
Pik3c2a G T 7: 116,017,256 (GRCm39) T167K possibly damaging Het
Ppp1r18 A G 17: 36,178,938 (GRCm39) D271G probably benign Het
Rnf213 T C 11: 119,333,830 (GRCm39) I3013T probably damaging Het
Rock1 A T 18: 10,097,493 (GRCm39) M765K probably benign Het
Sec16a T C 2: 26,325,945 (GRCm39) Y1244C probably benign Het
Taar7d T C 10: 23,903,204 (GRCm39) C29R possibly damaging Het
Ttn A C 2: 76,572,264 (GRCm39) F26210V probably damaging Het
Ube2b A T 11: 51,877,534 (GRCm39) V145D probably damaging Het
Vmn1r219 T G 13: 23,347,580 (GRCm39) S256R possibly damaging Het
Other mutations in Tlcd4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02606:Tlcd4 APN 3 121,022,013 (GRCm39) missense possibly damaging 0.94
R1295:Tlcd4 UTSW 3 121,000,940 (GRCm39) missense probably benign
R1296:Tlcd4 UTSW 3 121,000,940 (GRCm39) missense probably benign
R2040:Tlcd4 UTSW 3 121,024,975 (GRCm39) splice site probably benign
R2056:Tlcd4 UTSW 3 121,001,070 (GRCm39) missense probably benign 0.00
R4541:Tlcd4 UTSW 3 121,028,884 (GRCm39) start codon destroyed probably null 0.00
R6044:Tlcd4 UTSW 3 121,001,018 (GRCm39) missense probably damaging 0.97
R6261:Tlcd4 UTSW 3 121,028,708 (GRCm39) missense possibly damaging 0.86
R6916:Tlcd4 UTSW 3 121,000,805 (GRCm39) missense possibly damaging 0.94
R7640:Tlcd4 UTSW 3 121,028,690 (GRCm39) critical splice donor site probably null
R7911:Tlcd4 UTSW 3 121,022,041 (GRCm39) missense probably damaging 0.96
R9404:Tlcd4 UTSW 3 121,028,731 (GRCm39) missense probably benign 0.00
RF010:Tlcd4 UTSW 3 121,022,533 (GRCm39) missense probably benign 0.00
Z1177:Tlcd4 UTSW 3 121,004,957 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02