Incidental Mutation 'R0360:Tmcc3'
ID 30057
Institutional Source Beutler Lab
Gene Symbol Tmcc3
Ensembl Gene ENSMUSG00000020023
Gene Name transmembrane and coiled coil domains 3
Synonyms A230066D03Rik, LOC380656, C630016B22Rik
MMRRC Submission 038566-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0360 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 94147811-94426818 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 94414407 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 36 (N36K)
Ref Sequence ENSEMBL: ENSMUSP00000121456 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065060] [ENSMUST00000117460] [ENSMUST00000117929] [ENSMUST00000121471] [ENSMUST00000132743] [ENSMUST00000148910] [ENSMUST00000148823]
AlphaFold Q8R310
Predicted Effect probably benign
Transcript: ENSMUST00000065060
AA Change: N67K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000063264
Gene: ENSMUSG00000020023
AA Change: N67K

DomainStartEndE-ValueType
Pfam:Tmemb_cc2 65 465 1.2e-160 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000117460
AA Change: N36K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000112669
Gene: ENSMUSG00000020023
AA Change: N36K

DomainStartEndE-ValueType
Pfam:Tmemb_cc2 32 435 1.6e-176 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000117929
AA Change: N36K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000112401
Gene: ENSMUSG00000020023
AA Change: N36K

DomainStartEndE-ValueType
Pfam:Tmemb_cc2 32 435 1.6e-176 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000121471
AA Change: N36K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000113122
Gene: ENSMUSG00000020023
AA Change: N36K

DomainStartEndE-ValueType
Pfam:Tmemb_cc2 32 435 1.6e-176 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000132743
AA Change: N36K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000119751
Gene: ENSMUSG00000020023
AA Change: N36K

DomainStartEndE-ValueType
Pfam:Tmemb_cc2 47 134 3.3e-44 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146744
Predicted Effect probably benign
Transcript: ENSMUST00000148910
AA Change: N36K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000121456
Gene: ENSMUSG00000020023
AA Change: N36K

DomainStartEndE-ValueType
Pfam:Tmemb_cc2 34 76 1.6e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000148823
AA Change: N36K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000119496
Gene: ENSMUSG00000020023
AA Change: N36K

DomainStartEndE-ValueType
Pfam:Tmemb_cc2 85 210 3.6e-47 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.3%
  • 10x: 96.2%
  • 20x: 92.6%
Validation Efficiency 98% (93/95)
Allele List at MGI
Other mutations in this stock
Total: 95 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp7 G A 7: 28,310,553 (GRCm39) probably benign Het
Adcyap1r1 G T 6: 55,452,508 (GRCm39) probably benign Het
Ankrd6 T C 4: 32,836,424 (GRCm39) T44A probably damaging Het
Ano7 A G 1: 93,316,380 (GRCm39) D221G probably benign Het
Bhlhe40 C A 6: 108,641,711 (GRCm39) N218K probably damaging Het
Bms1 A G 6: 118,382,251 (GRCm39) V429A probably benign Het
C7 T A 15: 5,018,444 (GRCm39) T800S probably benign Het
Camta2 G A 11: 70,574,136 (GRCm39) T127I probably damaging Het
Ccdc13 T A 9: 121,627,282 (GRCm39) N665I probably damaging Het
Ccdc157 T C 11: 4,096,663 (GRCm39) E362G probably damaging Het
Ccdc73 T A 2: 104,811,352 (GRCm39) N310K probably damaging Het
Cfap91 T A 16: 38,118,659 (GRCm39) probably null Het
Cmklr1 A T 5: 113,752,578 (GRCm39) L141H probably damaging Het
Cnst C A 1: 179,407,100 (GRCm39) A49E probably benign Het
Col5a3 C T 9: 20,683,762 (GRCm39) R1498Q unknown Het
Crybb3 T A 5: 113,223,819 (GRCm39) I197F probably damaging Het
Cryzl1 G A 16: 91,504,155 (GRCm39) P97S probably benign Het
Cubn T C 2: 13,315,318 (GRCm39) probably benign Het
Cyp2d37-ps T C 15: 82,574,253 (GRCm39) noncoding transcript Het
Cyp4a12b C A 4: 115,290,117 (GRCm39) N223K probably benign Het
D16Ertd472e A T 16: 78,344,773 (GRCm39) C112S probably benign Het
Dennd2a T C 6: 39,485,233 (GRCm39) T349A probably benign Het
Dock5 G A 14: 68,060,129 (GRCm39) probably benign Het
Dpp6 T C 5: 27,857,267 (GRCm39) L404P probably damaging Het
Dsc3 T A 18: 20,104,639 (GRCm39) T563S possibly damaging Het
Dync2h1 T A 9: 7,113,182 (GRCm39) E214D possibly damaging Het
Elac2 A G 11: 64,870,136 (GRCm39) Y67C probably damaging Het
Elmo1 A T 13: 20,748,663 (GRCm39) K503* probably null Het
Eng T C 2: 32,569,149 (GRCm39) S559P probably benign Het
Epc2 T A 2: 49,427,145 (GRCm39) V563E possibly damaging Het
Fancm A G 12: 65,122,724 (GRCm39) Y82C probably damaging Het
Flt4 A T 11: 49,527,818 (GRCm39) M924L probably benign Het
Gabpa T A 16: 84,654,275 (GRCm39) N317K possibly damaging Het
Gchfr T G 2: 118,998,327 (GRCm39) Y3* probably null Het
Gli3 G T 13: 15,899,349 (GRCm39) G912V probably benign Het
Gm10295 C A 7: 71,000,361 (GRCm39) C73F unknown Het
Gm10382 G T 5: 125,466,728 (GRCm39) probably benign Het
Gp1ba T C 11: 70,531,284 (GRCm39) probably benign Het
Gpr146 G A 5: 139,364,933 (GRCm39) probably benign Het
Hexd T A 11: 121,102,969 (GRCm39) H62Q probably benign Het
Hgd T A 16: 37,431,546 (GRCm39) probably benign Het
Hs6st1 G A 1: 36,108,266 (GRCm39) probably null Het
Icam4 A G 9: 20,941,117 (GRCm39) Y123C probably damaging Het
Il24 A G 1: 130,811,674 (GRCm39) V134A probably damaging Het
Iqcb1 G T 16: 36,692,670 (GRCm39) A562S probably damaging Het
Iqgap2 A C 13: 95,867,783 (GRCm39) probably benign Het
Islr2 T C 9: 58,107,027 (GRCm39) T78A possibly damaging Het
Kif1b A G 4: 149,347,186 (GRCm39) I330T probably damaging Het
Kirrel1 T C 3: 86,997,106 (GRCm39) Y287C probably damaging Het
Klf10 C T 15: 38,297,090 (GRCm39) V317M probably benign Het
Klhl9 T G 4: 88,638,527 (GRCm39) K571N probably benign Het
Lin37 T C 7: 30,256,438 (GRCm39) I97V possibly damaging Het
Lrrc37a C T 11: 103,391,466 (GRCm39) V1320I possibly damaging Het
Lrrc74a A G 12: 86,784,569 (GRCm39) H99R probably damaging Het
Me3 T A 7: 89,435,622 (GRCm39) probably null Het
Med13 T C 11: 86,219,987 (GRCm39) probably benign Het
Myh6 A T 14: 55,185,804 (GRCm39) Y1490* probably null Het
Myo10 T C 15: 25,804,454 (GRCm39) L1583P probably damaging Het
Nkx6-3 A G 8: 23,647,722 (GRCm39) E227G possibly damaging Het
Nlrp1a T A 11: 71,004,830 (GRCm39) probably benign Het
Nlrp5-ps A C 7: 14,317,016 (GRCm39) noncoding transcript Het
Nup188 T G 2: 30,216,491 (GRCm39) I765S probably null Het
Obscn G A 11: 59,019,107 (GRCm39) A969V probably benign Het
Or11a4 T C 17: 37,536,934 (GRCm39) L306P possibly damaging Het
Or1j19 T A 2: 36,677,452 (GRCm39) M305K probably benign Het
Or5a1 G T 19: 12,097,217 (GRCm39) D286E possibly damaging Het
Or8k33 A T 2: 86,384,123 (GRCm39) L115Q probably damaging Het
Otogl T A 10: 107,606,511 (GRCm39) probably benign Het
Pcnx3 G A 19: 5,715,611 (GRCm39) R1472W probably damaging Het
Plekha5 G A 6: 140,537,473 (GRCm39) R646K possibly damaging Het
Plscr4 T A 9: 92,370,814 (GRCm39) probably benign Het
Pon2 G A 6: 5,266,156 (GRCm39) Q288* probably null Het
Ptpn13 C A 5: 103,681,214 (GRCm39) R805S probably damaging Het
Pyroxd2 A T 19: 42,735,992 (GRCm39) V62D probably damaging Het
Rab37 G T 11: 115,047,790 (GRCm39) C44F probably damaging Het
Rbm44 T C 1: 91,080,069 (GRCm39) S52P probably benign Het
Rgl3 A G 9: 21,888,153 (GRCm39) W454R probably damaging Het
Rita1 A G 5: 120,747,837 (GRCm39) S154P probably benign Het
Scn5a T C 9: 119,351,665 (GRCm39) D772G probably damaging Het
Sec23ip G A 7: 128,363,129 (GRCm39) probably benign Het
Skic8 A T 9: 54,634,862 (GRCm39) probably benign Het
Slc23a1 T A 18: 35,756,032 (GRCm39) probably benign Het
Slco1a8 A C 6: 141,928,053 (GRCm39) probably benign Het
Sparcl1 T A 5: 104,237,503 (GRCm39) D444V probably damaging Het
Taar6 C A 10: 23,861,046 (GRCm39) V167L probably benign Het
Tmem200c T A 17: 69,147,543 (GRCm39) V42E probably damaging Het
Trhde T C 10: 114,338,887 (GRCm39) probably benign Het
Tshz3 A G 7: 36,469,958 (GRCm39) E649G probably benign Het
Utp4 T C 8: 107,625,169 (GRCm39) probably benign Het
Vmn1r30 A G 6: 58,412,262 (GRCm39) V190A probably benign Het
Vmn1r35 A G 6: 66,655,827 (GRCm39) I281T probably damaging Het
Vmn1r58 G T 7: 5,413,329 (GRCm39) H300Q probably benign Het
Vmn1r84 A G 7: 12,095,799 (GRCm39) L286P probably damaging Het
Vmn2r54 A T 7: 12,349,576 (GRCm39) C669S probably damaging Het
Zfp623 T C 15: 75,820,510 (GRCm39) S489P probably benign Het
Other mutations in Tmcc3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01347:Tmcc3 APN 10 94,418,147 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- CAGAACTGACTGGCTTCCTCATTCC -3'
(R):5'- TCTTCTCAAAGACCTGCTTGATGCG -3'

Sequencing Primer
(F):5'- GATAGTACAGAGTGTCCATCCTGC -3'
(R):5'- GTCCAGCCTGCTGCTTG -3'
Posted On 2013-04-24