Incidental Mutation 'R1370:Tbcel'
ID155954
Institutional Source Beutler Lab
Gene Symbol Tbcel
Ensembl Gene ENSMUSG00000037287
Gene Nametubulin folding cofactor E-like
SynonymsE130107N23Rik, Lrrc35
MMRRC Submission 039434-MU
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.261) question?
Stock #R1370 (G1)
Quality Score214
Status Validated
Chromosome9
Chromosomal Location42412316-42507809 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 42450062 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 63 (D63E)
Ref Sequence ENSEMBL: ENSMUSP00000065125 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066148] [ENSMUST00000066179] [ENSMUST00000125995] [ENSMUST00000128959] [ENSMUST00000134374] [ENSMUST00000138506]
Predicted Effect probably damaging
Transcript: ENSMUST00000066148
AA Change: D45E

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000067882
Gene: ENSMUSG00000037287
AA Change: D45E

DomainStartEndE-ValueType
internal_repeat_1 73 103 7.53e-6 PROSPERO
low complexity region 105 115 N/A INTRINSIC
low complexity region 147 160 N/A INTRINSIC
internal_repeat_1 173 203 7.53e-6 PROSPERO
Pfam:Ubiquitin_2 344 424 1.1e-8 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000066179
AA Change: D63E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000065125
Gene: ENSMUSG00000037287
AA Change: D63E

DomainStartEndE-ValueType
internal_repeat_1 91 121 9.76e-6 PROSPERO
low complexity region 123 133 N/A INTRINSIC
low complexity region 165 178 N/A INTRINSIC
internal_repeat_1 191 221 9.76e-6 PROSPERO
Pfam:Ubiquitin_2 362 442 1.6e-8 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000125995
AA Change: D45E

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000114721
Gene: ENSMUSG00000037287
AA Change: D45E

DomainStartEndE-ValueType
internal_repeat_1 73 103 7.53e-6 PROSPERO
low complexity region 105 115 N/A INTRINSIC
low complexity region 147 160 N/A INTRINSIC
internal_repeat_1 173 203 7.53e-6 PROSPERO
Pfam:Ubiquitin_2 344 424 1.1e-8 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000128959
AA Change: D45E

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000121164
Gene: ENSMUSG00000037287
AA Change: D45E

DomainStartEndE-ValueType
internal_repeat_1 73 103 7.53e-6 PROSPERO
low complexity region 105 115 N/A INTRINSIC
low complexity region 147 160 N/A INTRINSIC
internal_repeat_1 173 203 7.53e-6 PROSPERO
Pfam:Ubiquitin_2 344 424 1.1e-8 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000134374
AA Change: D45E

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000138506
AA Change: D45E

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000116616
Gene: ENSMUSG00000037287
AA Change: D45E

DomainStartEndE-ValueType
internal_repeat_1 73 103 7.53e-6 PROSPERO
low complexity region 105 115 N/A INTRINSIC
low complexity region 147 160 N/A INTRINSIC
internal_repeat_1 173 203 7.53e-6 PROSPERO
Pfam:Ubiquitin_2 344 424 1.1e-8 PFAM
Meta Mutation Damage Score 0.142 question?
Coding Region Coverage
  • 1x: 98.7%
  • 3x: 97.5%
  • 10x: 93.6%
  • 20x: 84.8%
Validation Efficiency 99% (80/81)
Allele List at MGI
Other mutations in this stock
Total: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb10 C T 8: 123,962,052 G495D probably damaging Het
Adgra3 T C 5: 49,960,787 I1140V possibly damaging Het
Adrb3 A T 8: 27,227,770 probably null Het
Afap1 A G 5: 35,935,600 D16G unknown Het
AI593442 T C 9: 52,678,008 K90E probably damaging Het
Aicda A T 6: 122,561,185 N101Y probably benign Het
Alx1 A G 10: 103,028,492 S39P possibly damaging Het
Ankrd52 A G 10: 128,388,696 D781G possibly damaging Het
Arhgef5 T A 6: 43,283,912 F1424I probably damaging Het
Atp10b G A 11: 43,151,655 W14* probably null Het
Bin1 A G 18: 32,429,703 I416V probably benign Het
Bptf A T 11: 107,047,094 S2724T probably damaging Het
Brf1 A T 12: 112,961,108 probably null Het
Ccdc39 T C 3: 33,826,480 K446R probably damaging Het
Cd226 T A 18: 89,247,023 S29T probably benign Het
Cdan1 A G 2: 120,719,139 probably null Het
Chaf1a A T 17: 56,064,032 H639L probably benign Het
Chd1 G A 17: 17,387,480 G430D probably benign Het
Clca3a2 T C 3: 144,813,863 probably benign Het
Clptm1 A G 7: 19,633,872 V605A possibly damaging Het
Cmpk2 A G 12: 26,471,452 D241G probably damaging Het
Cryzl1 A G 16: 91,692,658 V266A possibly damaging Het
Cyp2c68 A G 19: 39,740,956 L29P probably damaging Het
Dennd3 A C 15: 73,540,854 probably benign Het
Dennd4c T A 4: 86,811,510 I783N probably damaging Het
Dock10 A G 1: 80,540,343 S1305P probably damaging Het
Eml6 T G 11: 29,833,085 S599R probably benign Het
Gbp8 C T 5: 105,016,576 A394T possibly damaging Het
Gm13023 T A 4: 143,795,304 L497I possibly damaging Het
H1fx A G 6: 87,981,151 I69T probably damaging Het
Herc2 T A 7: 56,168,873 C2771S probably benign Het
Ism1 A T 2: 139,732,074 I115F possibly damaging Het
Itga10 C T 3: 96,651,738 probably benign Het
Itgb8 C T 12: 119,171,003 G443E probably benign Het
Kalrn T A 16: 33,975,584 I1274F possibly damaging Het
Klk11 A G 7: 43,776,907 I22V probably benign Het
Krt6b T C 15: 101,677,552 D362G probably damaging Het
Lce1e A G 3: 92,707,843 S66P unknown Het
Letm1 A T 5: 33,778,682 probably null Het
Lrrcc1 G T 3: 14,548,114 V299L probably benign Het
Mettl5 A T 2: 69,881,420 probably null Het
Mrpl12 A G 11: 120,485,301 S46G probably benign Het
Narfl A G 17: 25,776,988 E62G probably benign Het
Ndrg3 T C 2: 156,938,650 E198G probably damaging Het
Olfr198 A G 16: 59,201,680 S249P probably damaging Het
Pcdh20 A G 14: 88,468,301 I521T probably benign Het
Pdzph1 T C 17: 58,974,087 D400G possibly damaging Het
Per2 A T 1: 91,445,557 S170T possibly damaging Het
Pros1 A G 16: 62,919,558 K457E probably benign Het
Rer1 T A 4: 155,075,624 M156L probably benign Het
Rerg A T 6: 137,057,801 probably benign Het
Sel1l3 G T 5: 53,200,217 H144Q possibly damaging Het
Sept2 G T 1: 93,499,106 V146L probably damaging Het
Setd1b C T 5: 123,160,685 probably benign Het
Sh3bp4 A T 1: 89,143,772 Y114F probably benign Het
Slc44a5 C A 3: 154,243,159 T188K probably benign Het
Slco6d1 A C 1: 98,423,094 I100L probably benign Het
Slfn4 G T 11: 83,188,806 D441Y probably damaging Het
Smg1 T C 7: 118,159,752 probably benign Het
Snrpb2 A G 2: 143,065,166 probably benign Het
Sspo T A 6: 48,448,626 S60R probably benign Het
Stard9 T C 2: 120,697,477 V1405A probably benign Het
Syt1 A G 10: 108,690,922 L42P probably damaging Het
Tarbp1 T C 8: 126,448,330 D789G probably benign Het
Tdrd3 A T 14: 87,458,054 probably benign Het
Tiam1 A T 16: 89,898,221 I116N probably benign Het
Tsc22d1 A G 14: 76,437,664 probably benign Het
Tsga10 G T 1: 37,835,453 T117K probably damaging Het
Ttc3 A G 16: 94,418,637 S492G possibly damaging Het
Ttn G T 2: 76,847,151 probably benign Het
Wasf3 T C 5: 146,470,208 probably benign Het
Zbtb37 C T 1: 161,032,022 E238K probably benign Het
Zfp354c A G 11: 50,815,840 I136T probably benign Het
Zfp384 G A 6: 125,036,453 A479T probably benign Het
Zfp646 T A 7: 127,879,864 N404K probably damaging Het
Other mutations in Tbcel
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00555:Tbcel APN 9 42443037 missense probably benign 0.03
IGL01432:Tbcel APN 9 42444521 missense possibly damaging 0.79
IGL02223:Tbcel APN 9 42451718 missense probably benign 0.14
IGL03336:Tbcel APN 9 42439131 missense probably benign 0.17
R0346:Tbcel UTSW 9 42437243 splice site probably benign
R0415:Tbcel UTSW 9 42444500 missense probably benign 0.43
R0849:Tbcel UTSW 9 42437157 missense probably damaging 1.00
R1203:Tbcel UTSW 9 42451651 missense probably damaging 1.00
R1617:Tbcel UTSW 9 42461293 intron probably benign
R1995:Tbcel UTSW 9 42451661 missense probably damaging 1.00
R3196:Tbcel UTSW 9 42415952 missense probably damaging 0.99
R3618:Tbcel UTSW 9 42461295 intron probably benign
R4681:Tbcel UTSW 9 42449972 missense probably damaging 1.00
R5008:Tbcel UTSW 9 42416123 missense probably damaging 1.00
R5497:Tbcel UTSW 9 42451745 start codon destroyed possibly damaging 0.59
R5838:Tbcel UTSW 9 42415872 missense probably damaging 0.98
R5976:Tbcel UTSW 9 42439203 missense possibly damaging 0.95
R6993:Tbcel UTSW 9 42416117 nonsense probably null
S24628:Tbcel UTSW 9 42444500 missense probably benign 0.43
Predicted Primers PCR Primer
(F):5'- TCTCAAGTAGGACCACAGTCAGCAG -3'
(R):5'- GACTTGACAGAGGTGGCTTAGCAG -3'

Sequencing Primer
(F):5'- GCAACAAGCATCGCCTTTC -3'
(R):5'- GGGACAGAATGCTTTTCAGAACTAC -3'
Posted On2014-02-11