Incidental Mutation 'R4541:Tlcd4'
ID 333527
Institutional Source Beutler Lab
Gene Symbol Tlcd4
Ensembl Gene ENSMUSG00000028132
Gene Name TLC domain containing 4
Synonyms C730036B01Rik, 4930577M16Rik, Tmem56
MMRRC Submission 041777-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.083) question?
Stock # R4541 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 120995657-121076756 bp(-) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) A to G at 121028884 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 1 (M1T)
Ref Sequence ENSEMBL: ENSMUSP00000120821 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029777] [ENSMUST00000128909] [ENSMUST00000135818] [ENSMUST00000137234] [ENSMUST00000155309]
AlphaFold Q8CGF5
Predicted Effect probably null
Transcript: ENSMUST00000029777
AA Change: M1T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000029777
Gene: ENSMUSG00000028132
AA Change: M1T

DomainStartEndE-ValueType
transmembrane domain 20 42 N/A INTRINSIC
TLC 57 259 1.5e-47 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123427
Predicted Effect probably null
Transcript: ENSMUST00000128909
AA Change: M1T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000119468
Gene: ENSMUSG00000028132
AA Change: M1T

DomainStartEndE-ValueType
transmembrane domain 20 42 N/A INTRINSIC
TLC 57 259 1.5e-47 SMART
Predicted Effect probably null
Transcript: ENSMUST00000135818
AA Change: M1T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000114755
Gene: ENSMUSG00000028132
AA Change: M1T

DomainStartEndE-ValueType
transmembrane domain 20 42 N/A INTRINSIC
TLC 57 231 4.68e-26 SMART
Predicted Effect probably null
Transcript: ENSMUST00000137234
AA Change: M1T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000122001
Gene: ENSMUSG00000028132
AA Change: M1T

DomainStartEndE-ValueType
transmembrane domain 20 42 N/A INTRINSIC
Pfam:TRAM_LAG1_CLN8 61 138 7.8e-14 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151058
Predicted Effect probably null
Transcript: ENSMUST00000155309
AA Change: M1T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000120821
Gene: ENSMUSG00000028132
AA Change: M1T

DomainStartEndE-ValueType
transmembrane domain 20 42 N/A INTRINSIC
TLC 57 259 1.5e-47 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200402
Meta Mutation Damage Score 0.9455 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.5%
Validation Efficiency 96% (51/53)
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810021J22Rik C T 11: 58,769,676 (GRCm39) P73S probably benign Het
4930533L02Rik G A 7: 124,917,750 (GRCm39) noncoding transcript Het
Acot4 A T 12: 84,090,022 (GRCm39) I240F probably benign Het
B4galt6 A G 18: 20,878,496 (GRCm39) V10A probably benign Het
Bag4 C T 8: 26,259,516 (GRCm39) A228T probably benign Het
Ccnb3 T C X: 6,875,308 (GRCm39) T424A probably benign Het
Cd8a A T 6: 71,350,856 (GRCm39) D107V probably benign Het
Cdca7l T C 12: 117,836,098 (GRCm39) S190P probably damaging Het
Ceacam12 G A 7: 17,805,648 (GRCm39) M278I probably benign Het
Cfap43 C T 19: 47,736,454 (GRCm39) V1346I probably benign Het
Clic5 C T 17: 44,552,956 (GRCm39) T70M probably damaging Het
Dbpht2 A T 12: 74,345,934 (GRCm39) noncoding transcript Het
Ddhd1 G A 14: 45,860,313 (GRCm39) R140* probably null Het
Evpl T G 11: 116,123,470 (GRCm39) I301L probably benign Het
Glul T A 1: 153,778,782 (GRCm39) Y30* probably null Het
Itgad A T 7: 127,797,287 (GRCm39) H878L probably benign Het
Kcnk10 A G 12: 98,402,536 (GRCm39) I301T probably damaging Het
Klhl14 A T 18: 21,687,696 (GRCm39) Y575* probably null Het
Mrps2 G T 2: 28,358,412 (GRCm39) probably benign Het
Mymx GCC GC 17: 45,912,519 (GRCm39) probably null Het
Napb G A 2: 148,551,229 (GRCm39) probably benign Het
Nlrp1c-ps A G 11: 71,171,706 (GRCm39) noncoding transcript Het
Or10g9b A C 9: 39,917,589 (GRCm39) S219A possibly damaging Het
Or4f15 A G 2: 111,813,981 (GRCm39) I146T probably benign Het
Piwil4 C A 9: 14,629,612 (GRCm39) M438I probably damaging Het
Pla2r1 C T 2: 60,258,082 (GRCm39) D1199N probably damaging Het
Pmpca T G 2: 26,280,201 (GRCm39) probably benign Het
Prkcq G T 2: 11,288,623 (GRCm39) M525I possibly damaging Het
Rnf225 T C 7: 12,662,520 (GRCm39) probably null Het
Sco1 G T 11: 66,943,668 (GRCm39) A50S probably benign Het
Slc12a2 T A 18: 58,046,037 (GRCm39) probably null Het
Slc36a1 T C 11: 55,112,849 (GRCm39) V148A probably benign Het
Sost G A 11: 101,857,670 (GRCm39) P44S probably damaging Het
Tbc1d10c G T 19: 4,239,473 (GRCm39) R96S probably damaging Het
Tbc1d2b A T 9: 90,087,222 (GRCm39) I919N probably damaging Het
Tcea1 T C 1: 4,963,659 (GRCm39) L233P probably damaging Het
Tmem231 T C 8: 112,641,224 (GRCm39) T223A probably benign Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Tomm34 A G 2: 163,896,719 (GRCm39) Y243H probably benign Het
Tubgcp4 A T 2: 121,025,907 (GRCm39) N584I probably benign Het
Vldlr T C 19: 27,216,192 (GRCm39) C7R probably damaging Het
Vmn1r42 A T 6: 89,822,533 (GRCm39) M12K probably benign Het
Vsig10 C T 5: 117,490,881 (GRCm39) probably benign Het
Zfp974 C G 7: 27,625,829 (GRCm39) V14L probably damaging Het
Other mutations in Tlcd4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02606:Tlcd4 APN 3 121,022,013 (GRCm39) missense possibly damaging 0.94
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
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
Predicted Primers PCR Primer
(F):5'- GAGTTCCATTCAATCTTCTTGTCGATG -3'
(R):5'- ATGTATGACGCAACCCAAGC -3'

Sequencing Primer
(F):5'- CAATCTTCTTGTCGATGCTAAGACTG -3'
(R):5'- GTATGACGCAACCCAAGCAACTG -3'
Posted On 2015-08-18