Incidental Mutation 'IGL01347:Tmcc3'
ID 75104
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmcc3
Ensembl Gene ENSMUSG00000020023
Gene Name transmembrane and coiled coil domains 3
Synonyms A230066D03Rik, LOC380656, C630016B22Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01347
Quality Score
Status
Chromosome 10
Chromosomal Location 94147811-94426818 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 94418147 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 305 (L305P)
Ref Sequence ENSEMBL: ENSMUSP00000113122 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065060] [ENSMUST00000117460] [ENSMUST00000117929] [ENSMUST00000121471] [ENSMUST00000132743] [ENSMUST00000148823] [ENSMUST00000148910]
AlphaFold Q8R310
Predicted Effect probably damaging
Transcript: ENSMUST00000065060
AA Change: L336P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000063264
Gene: ENSMUSG00000020023
AA Change: L336P

DomainStartEndE-ValueType
Pfam:Tmemb_cc2 65 465 1.2e-160 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000117460
AA Change: L305P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112669
Gene: ENSMUSG00000020023
AA Change: L305P

DomainStartEndE-ValueType
Pfam:Tmemb_cc2 32 435 1.6e-176 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000117929
AA Change: L305P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112401
Gene: ENSMUSG00000020023
AA Change: L305P

DomainStartEndE-ValueType
Pfam:Tmemb_cc2 32 435 1.6e-176 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000121471
AA Change: L305P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113122
Gene: ENSMUSG00000020023
AA Change: L305P

DomainStartEndE-ValueType
Pfam:Tmemb_cc2 32 435 1.6e-176 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000132743
SMART Domains Protein: ENSMUSP00000119751
Gene: ENSMUSG00000020023

DomainStartEndE-ValueType
Pfam:Tmemb_cc2 47 134 3.3e-44 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146744
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184071
Predicted Effect probably benign
Transcript: ENSMUST00000148823
SMART Domains Protein: ENSMUSP00000119496
Gene: ENSMUSG00000020023

DomainStartEndE-ValueType
Pfam:Tmemb_cc2 85 210 3.6e-47 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000148910
SMART Domains Protein: ENSMUSP00000121456
Gene: ENSMUSG00000020023

DomainStartEndE-ValueType
Pfam:Tmemb_cc2 34 76 1.6e-15 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aoc1l2 A T 6: 48,909,477 (GRCm39) Y574F probably benign Het
Apc C T 18: 34,450,723 (GRCm39) P2506S probably damaging Het
Bdp1 T A 13: 100,206,711 (GRCm39) K610N possibly damaging Het
Bri3bp T G 5: 125,531,581 (GRCm39) C176G probably damaging Het
Carnmt1 A G 19: 18,668,818 (GRCm39) I248V probably benign Het
Ccdc88b A G 19: 6,822,454 (GRCm39) L1475P probably damaging Het
Cfap100 C T 6: 90,383,103 (GRCm39) V511M possibly damaging Het
Chchd3 T C 6: 32,780,838 (GRCm39) N78S probably benign Het
Cnnm4 G A 1: 36,537,115 (GRCm39) E480K possibly damaging Het
Cyp2d34 T A 15: 82,500,978 (GRCm39) I385F possibly damaging Het
D930048N14Rik T A 11: 51,545,615 (GRCm39) probably benign Het
Dgkg A T 16: 22,419,340 (GRCm39) D53E probably benign Het
Dlx3 T A 11: 95,011,359 (GRCm39) L71H probably damaging Het
Egln2 A C 7: 26,859,717 (GRCm39) V332G probably null Het
Entpd2 A G 2: 25,288,746 (GRCm39) Q250R probably benign Het
Epyc A G 10: 97,510,593 (GRCm39) D132G probably damaging Het
Fxr2 A G 11: 69,543,114 (GRCm39) D637G probably benign Het
Gapvd1 A G 2: 34,596,708 (GRCm39) probably null Het
Gbp11 G A 5: 105,479,194 (GRCm39) probably benign Het
Gm17175 A T 14: 51,808,307 (GRCm39) C162S probably damaging Het
Gm5499 C T 17: 87,386,339 (GRCm39) noncoding transcript Het
Gps1 T C 11: 120,679,086 (GRCm39) V378A probably benign Het
Grik1 C T 16: 87,754,481 (GRCm39) R368Q probably benign Het
Gsap A G 5: 21,431,318 (GRCm39) E214G probably benign Het
H2bc13 A G 13: 21,900,064 (GRCm39) Y84H probably damaging Het
Jdp2 T C 12: 85,655,020 (GRCm39) S28P probably benign Het
Kif26b T C 1: 178,698,240 (GRCm39) F577S probably damaging Het
Kl G A 5: 150,904,130 (GRCm39) G294D probably damaging Het
Lgsn T A 1: 31,243,041 (GRCm39) D374E probably damaging Het
Lman1 T C 18: 66,124,681 (GRCm39) I353V probably damaging Het
Lmna T C 3: 88,392,270 (GRCm39) H374R probably benign Het
Lrrc57 A G 2: 120,439,286 (GRCm39) S31P probably benign Het
Lum T A 10: 97,404,547 (GRCm39) N147K probably damaging Het
Or6n2 T C 1: 173,897,632 (GRCm39) I256T probably benign Het
Or7a41 A G 10: 78,871,445 (GRCm39) T272A probably benign Het
P4ha3 C A 7: 99,955,140 (GRCm39) L332I probably damaging Het
Pelp1 A G 11: 70,286,505 (GRCm39) I541T probably damaging Het
Pja2 A C 17: 64,620,023 (GRCm39) S2A probably benign Het
Rhbdl3 T C 11: 80,244,268 (GRCm39) L325P probably damaging Het
Robo2 T C 16: 74,149,744 (GRCm39) D28G probably damaging Het
Rpa1 A G 11: 75,198,111 (GRCm39) Y470H probably damaging Het
Rtn3 T C 19: 7,434,645 (GRCm39) N430S probably benign Het
Scg2 T A 1: 79,414,538 (GRCm39) I62L probably benign Het
Scn5a T A 9: 119,391,507 (GRCm39) K62* probably null Het
Sec23ip T C 7: 128,364,129 (GRCm39) V469A probably benign Het
Shank1 A G 7: 43,991,544 (GRCm39) T663A unknown Het
Slco1a7 A T 6: 141,700,192 (GRCm39) Y113* probably null Het
Stab2 G T 10: 86,737,567 (GRCm39) probably null Het
Tmem145 A G 7: 25,014,260 (GRCm39) N458S probably damaging Het
Tpr G A 1: 150,302,738 (GRCm39) R1412Q probably damaging Het
Wdr1 A T 5: 38,703,058 (GRCm39) F173I possibly damaging Het
Wdr17 C T 8: 55,104,380 (GRCm39) V898I probably benign Het
Wdr64 A T 1: 175,547,899 (GRCm39) L145F probably benign Het
Wnt10b A G 15: 98,674,826 (GRCm39) probably benign Het
Zfyve26 A T 12: 79,298,957 (GRCm39) probably null Het
Other mutations in Tmcc3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01455:Tmcc3 APN 10 94,422,617 (GRCm39) missense probably damaging 0.97
IGL02376:Tmcc3 APN 10 94,414,429 (GRCm39) missense possibly damaging 0.85
IGL03073:Tmcc3 APN 10 94,414,813 (GRCm39) missense probably benign 0.40
IGL03348:Tmcc3 APN 10 94,414,942 (GRCm39) missense possibly damaging 0.95
R0131:Tmcc3 UTSW 10 94,381,437 (GRCm39) splice site probably benign
R0360:Tmcc3 UTSW 10 94,414,407 (GRCm39) missense probably benign
R0840:Tmcc3 UTSW 10 94,414,633 (GRCm39) missense probably benign 0.05
R1994:Tmcc3 UTSW 10 94,414,468 (GRCm39) missense possibly damaging 0.95
R1995:Tmcc3 UTSW 10 94,414,468 (GRCm39) missense possibly damaging 0.95
R2184:Tmcc3 UTSW 10 94,418,168 (GRCm39) missense probably damaging 1.00
R2197:Tmcc3 UTSW 10 94,414,780 (GRCm39) missense probably damaging 1.00
R2273:Tmcc3 UTSW 10 94,414,777 (GRCm39) missense probably damaging 0.97
R2274:Tmcc3 UTSW 10 94,414,777 (GRCm39) missense probably damaging 0.97
R3763:Tmcc3 UTSW 10 94,415,179 (GRCm39) missense probably benign 0.42
R4690:Tmcc3 UTSW 10 94,381,419 (GRCm39) utr 5 prime probably benign
R4763:Tmcc3 UTSW 10 94,415,173 (GRCm39) missense probably damaging 1.00
R4816:Tmcc3 UTSW 10 94,414,646 (GRCm39) missense possibly damaging 0.89
R5385:Tmcc3 UTSW 10 94,415,015 (GRCm39) missense probably damaging 1.00
R6177:Tmcc3 UTSW 10 94,418,249 (GRCm39) missense probably damaging 0.97
R6636:Tmcc3 UTSW 10 94,414,286 (GRCm39) missense probably benign 0.14
R6898:Tmcc3 UTSW 10 94,387,034 (GRCm39) splice site probably null
R7128:Tmcc3 UTSW 10 94,266,496 (GRCm39) start gained probably benign
R7313:Tmcc3 UTSW 10 94,266,434 (GRCm39) start gained probably benign
R7320:Tmcc3 UTSW 10 94,414,357 (GRCm39) missense possibly damaging 0.94
R7456:Tmcc3 UTSW 10 94,418,174 (GRCm39) missense possibly damaging 0.79
R7874:Tmcc3 UTSW 10 94,386,889 (GRCm39) critical splice donor site probably null
R7876:Tmcc3 UTSW 10 94,414,397 (GRCm39) missense probably benign 0.03
R8098:Tmcc3 UTSW 10 94,415,078 (GRCm39) missense probably benign 0.00
R8274:Tmcc3 UTSW 10 94,422,738 (GRCm39) missense probably damaging 1.00
R8276:Tmcc3 UTSW 10 94,418,170 (GRCm39) missense probably damaging 0.97
R8939:Tmcc3 UTSW 10 94,381,483 (GRCm39) intron probably benign
R9418:Tmcc3 UTSW 10 94,415,087 (GRCm39) missense possibly damaging 0.79
Posted On 2013-10-07