Incidental Mutation 'R5838:Tbcel'
ID449730
Institutional Source Beutler Lab
Gene Symbol Tbcel
Ensembl Gene ENSMUSG00000037287
Gene Nametubulin folding cofactor E-like
SynonymsE130107N23Rik, Lrrc35
MMRRC Submission 044058-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.172) question?
Stock #R5838 (G1)
Quality Score225
Status Not validated
Chromosome9
Chromosomal Location42412316-42507809 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 42415872 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Tryptophan at position 430 (R430W)
Ref Sequence ENSEMBL: ENSMUSP00000065125 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066148] [ENSMUST00000066179] [ENSMUST00000125995] [ENSMUST00000128959] [ENSMUST00000138506]
Predicted Effect probably damaging
Transcript: ENSMUST00000066148
AA Change: R412W

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000067882
Gene: ENSMUSG00000037287
AA Change: R412W

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: R430W

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000065125
Gene: ENSMUSG00000037287
AA Change: R430W

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: R412W

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000114721
Gene: ENSMUSG00000037287
AA Change: R412W

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: R412W

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000121164
Gene: ENSMUSG00000037287
AA Change: R412W

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: ENSMUST00000138506
AA Change: R412W

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000116616
Gene: ENSMUSG00000037287
AA Change: R412W

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 noncoding transcript
Transcript: ENSMUST00000142775
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ace G A 11: 105,972,880 V385I probably benign Het
Apmap T C 2: 150,585,857 Y315C probably damaging Het
Arhgef12 G A 9: 43,005,608 T414I probably damaging Het
Cd200r1 C A 16: 44,766,034 A9D possibly damaging Het
Cdkal1 T C 13: 29,691,686 D183G probably benign Het
Clk1 C A 1: 58,412,660 C432F probably damaging Het
Col27a1 G T 4: 63,225,528 L484F probably damaging Het
Col7a1 A G 9: 108,978,143 E2480G unknown Het
D430042O09Rik A T 7: 125,867,655 M1361L possibly damaging Het
Dnah5 A G 15: 28,290,195 I1244V probably benign Het
Dock3 G T 9: 106,895,488 P522Q possibly damaging Het
Drc1 T A 5: 30,366,513 probably null Het
Epas1 C T 17: 86,823,686 T298I possibly damaging Het
Epha1 A T 6: 42,361,646 I699N probably damaging Het
Ephb3 T C 16: 21,221,687 S558P probably damaging Het
Epn1 T A 7: 5,097,166 L426* probably null Het
Fam234b T C 6: 135,225,267 V329A probably benign Het
Fasn G T 11: 120,816,124 R901S probably damaging Het
Fbln2 T C 6: 91,271,848 M1165T possibly damaging Het
Fer1l4 T C 2: 156,051,993 R103G probably benign Het
G6pd2 T A 5: 61,809,225 D114E probably benign Het
Galnt10 A G 11: 57,781,056 K391E probably damaging Het
Gpr150 C A 13: 76,055,926 C300F probably benign Het
Hhipl2 A G 1: 183,423,571 T151A probably damaging Het
Hmcn2 C A 2: 31,457,807 L4822M probably damaging Het
Ifi207 T A 1: 173,732,387 Q173L unknown Het
Inca1 T C 11: 70,689,881 E86G probably damaging Het
Iqca A G 1: 90,144,945 L71P probably benign Het
Kank2 G T 9: 21,795,393 Q110K probably damaging Het
Kif13b A T 14: 64,737,555 M407L probably damaging Het
Kif5a A C 10: 127,245,441 I208S probably damaging Het
Kmt2c T C 5: 25,284,471 K4490R probably damaging Het
Ltbp2 C T 12: 84,789,101 R1352H probably benign Het
Macf1 T C 4: 123,452,154 Q2061R possibly damaging Het
Marcks A G 10: 37,136,167 S291P probably benign Het
Mccc1 A G 3: 35,985,082 V254A possibly damaging Het
Mdn1 C T 4: 32,754,547 R4683W probably damaging Het
Mon2 A G 10: 123,010,492 probably null Het
Ndrg4 A T 8: 95,706,793 H134L probably damaging Het
Nek7 C A 1: 138,534,363 probably null Het
Nlrc3 C T 16: 3,953,995 S151N probably damaging Het
Nsl1 C A 1: 191,070,113 A146E probably benign Het
Olfr1391 A C 11: 49,327,933 N174T probably damaging Het
Olfr1477 T A 19: 13,502,558 Y72N probably damaging Het
Olfr519 A T 7: 108,894,085 F107L probably benign Het
Olfr655 A G 7: 104,596,897 Y95H probably benign Het
Olfr800 A T 10: 129,660,038 R77S probably benign Het
Pde4d A C 13: 109,740,442 S41R probably damaging Het
Phlpp1 T A 1: 106,347,132 L875* probably null Het
Pkd1 T A 17: 24,580,212 S2802T possibly damaging Het
Polr3b A G 10: 84,674,590 T500A probably benign Het
Ppp2r2c T C 5: 36,940,187 V239A probably benign Het
Pramef6 A G 4: 143,896,920 V228A probably benign Het
Reln T A 5: 21,899,113 I3287F probably damaging Het
Scube2 T C 7: 109,808,444 D763G probably damaging Het
Setd5 T C 6: 113,119,435 V534A probably benign Het
Slc10a4 T A 5: 73,012,030 C333S probably benign Het
Slc15a1 G A 14: 121,484,871 A206V probably damaging Het
Snx14 A G 9: 88,391,776 L654P probably damaging Het
Sowahc G A 10: 59,223,190 A383T possibly damaging Het
Taf1b A G 12: 24,500,449 D11G possibly damaging Het
Tap1 C T 17: 34,193,305 Q164* probably null Het
Trappc11 A T 8: 47,512,559 probably null Het
Trim15 T C 17: 36,862,840 I259V probably damaging Het
Trpt1 T C 19: 6,998,300 S141P probably damaging Het
Tsc2 T A 17: 24,613,216 Q732L probably benign Het
Tstd3 C A 4: 21,759,622 probably null Het
Unc13d T C 11: 116,064,625 K914R possibly damaging Het
Unk A G 11: 116,049,331 E170G probably damaging Het
Uqcc2 T A 17: 27,125,886 K62* probably null Het
Vim A G 2: 13,580,190 D394G probably damaging Het
Wdr47 G A 3: 108,624,736 probably null 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
R1370:Tbcel UTSW 9 42450062 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
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'- AGCCATGTCTGCTAACTGATCTG -3'
(R):5'- AGGAAATGAGCATCCGCCTG -3'

Sequencing Primer
(F):5'- AAACCTATCCATTCTAGGGGAAG -3'
(R):5'- TGGACCAGACAGTAGCCG -3'
Posted On2016-12-20