Incidental Mutation 'IGL02606:Tlcd4'
ID 300298
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 # IGL02606
Quality Score
Status
Chromosome 3
Chromosomal Location 120995657-121076756 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 121022013 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 128 (D128E)
Ref Sequence ENSEMBL: ENSMUSP00000120821 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029777] [ENSMUST00000128909] [ENSMUST00000135818] [ENSMUST00000137234] [ENSMUST00000155309]
AlphaFold Q8CGF5
Predicted Effect possibly damaging
Transcript: ENSMUST00000029777
AA Change: D128E

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000029777
Gene: ENSMUSG00000028132
AA Change: D128E

DomainStartEndE-ValueType
transmembrane domain 20 42 N/A INTRINSIC
TLC 57 259 1.5e-47 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000128909
AA Change: D128E

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000119468
Gene: ENSMUSG00000028132
AA Change: D128E

DomainStartEndE-ValueType
transmembrane domain 20 42 N/A INTRINSIC
TLC 57 259 1.5e-47 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000135818
AA Change: D128E

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000114755
Gene: ENSMUSG00000028132
AA Change: D128E

DomainStartEndE-ValueType
transmembrane domain 20 42 N/A INTRINSIC
TLC 57 231 4.68e-26 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000137234
AA Change: D128E

PolyPhen 2 Score 0.882 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000122001
Gene: ENSMUSG00000028132
AA Change: D128E

DomainStartEndE-ValueType
transmembrane domain 20 42 N/A INTRINSIC
Pfam:TRAM_LAG1_CLN8 61 138 7.8e-14 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000155309
AA Change: D128E

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000120821
Gene: ENSMUSG00000028132
AA Change: D128E

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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921539E11Rik T A 4: 103,099,978 (GRCm39) N74I probably benign Het
Abr T C 11: 76,369,990 (GRCm39) K75R probably damaging Het
Adcy10 A C 1: 165,347,087 (GRCm39) D368A possibly damaging Het
Alas1 A G 9: 106,118,309 (GRCm39) probably benign Het
Alms1 T A 6: 85,576,949 (GRCm39) D168E probably benign Het
Ankar C T 1: 72,729,444 (GRCm39) A82T possibly damaging Het
Atp2c2 C T 8: 120,457,013 (GRCm39) T205I probably benign Het
Atp9a A T 2: 168,494,588 (GRCm39) L639Q probably damaging Het
Btf3l4 T C 4: 108,675,411 (GRCm39) D134G probably benign Het
Cacna1s T C 1: 136,007,257 (GRCm39) C425R probably damaging Het
Cct6b G T 11: 82,627,271 (GRCm39) T322N probably damaging Het
Col19a1 G A 1: 24,573,197 (GRCm39) R192* probably null Het
Cyp8b1 A T 9: 121,744,801 (GRCm39) F177Y probably damaging Het
Dnajc11 T A 4: 152,063,941 (GRCm39) N474K probably benign Het
Dusp16 T C 6: 134,737,999 (GRCm39) E13G probably damaging Het
Ephx2 T C 14: 66,323,741 (GRCm39) N397S probably damaging Het
Fancm T C 12: 65,122,913 (GRCm39) V145A possibly damaging Het
Fiz1 A G 7: 5,012,158 (GRCm39) L120P possibly damaging Het
Galnt6 C T 15: 100,612,100 (GRCm39) V181M probably damaging Het
Ginm1 A G 10: 7,646,163 (GRCm39) V279A probably damaging Het
Gja10 T G 4: 32,601,509 (GRCm39) I292L probably benign Het
Gnb3 T C 6: 124,814,378 (GRCm39) S136G probably benign Het
Gramd1a A T 7: 30,833,940 (GRCm39) V495E probably damaging Het
Il1rn G T 2: 24,235,462 (GRCm39) probably benign Het
Itpr3 A G 17: 27,333,486 (GRCm39) probably benign Het
Kctd1 A G 18: 15,195,937 (GRCm39) S229P possibly damaging Het
Kdm4a T C 4: 118,017,486 (GRCm39) T527A probably benign Het
Kif14 C T 1: 136,424,331 (GRCm39) A982V probably damaging Het
Klf6 A G 13: 5,916,734 (GRCm39) K293R probably damaging Het
Letmd1 A G 15: 100,372,972 (GRCm39) D92G probably damaging Het
Lmod1 G A 1: 135,292,218 (GRCm39) V358M probably benign Het
Ndufs1 A T 1: 63,199,011 (GRCm39) D295E probably damaging Het
Nek4 A G 14: 30,685,916 (GRCm39) N283S probably benign Het
Nhsl1 A G 10: 18,387,385 (GRCm39) T220A probably damaging Het
Nucks1 T A 1: 131,852,363 (GRCm39) D71E probably damaging Het
Or4n4 T C 14: 50,519,530 (GRCm39) Y60C probably damaging Het
Or8g18 C A 9: 39,149,490 (GRCm39) V77F probably damaging Het
Pkhd1l1 A G 15: 44,452,852 (GRCm39) T3926A probably benign Het
Pptc7 T A 5: 122,451,651 (GRCm39) probably benign Het
Prdm11 A G 2: 92,805,948 (GRCm39) V334A probably benign Het
Ptdss2 C A 7: 140,732,911 (GRCm39) C231* probably null Het
R3hdm1 C T 1: 128,118,456 (GRCm39) P570S probably benign Het
Rlbp1 T C 7: 79,027,037 (GRCm39) T208A possibly damaging Het
Rnaseh2a T G 8: 85,686,723 (GRCm39) D142A probably damaging Het
Rufy4 C T 1: 74,172,509 (GRCm39) probably benign Het
Tektl1 A G 10: 78,584,300 (GRCm39) Y372H probably benign Het
Ttn A G 2: 76,646,565 (GRCm39) I11081T possibly damaging Het
Ubap2l A T 3: 89,945,735 (GRCm39) S173R probably damaging Het
Vmn1r80 A G 7: 11,926,959 (GRCm39) N23S probably damaging Het
Vwce C A 19: 10,632,712 (GRCm39) probably benign Het
Other mutations in Tlcd4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03339:Tlcd4 APN 3 121,022,489 (GRCm39) splice site probably benign
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 2015-04-16