Incidental Mutation 'R7110:Tbc1d9b'
ID 551461
Institutional Source Beutler Lab
Gene Symbol Tbc1d9b
Ensembl Gene ENSMUSG00000036644
Gene Name TBC1 domain family, member 9B
Synonyms 2700008N14Rik
MMRRC Submission 045202-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.553) question?
Stock # R7110 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 50022223-50063612 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 50054657 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 934 (I934F)
Ref Sequence ENSEMBL: ENSMUSP00000090825 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093138] [ENSMUST00000101270]
AlphaFold Q5SVR0
Predicted Effect probably benign
Transcript: ENSMUST00000093138
AA Change: I934F

PolyPhen 2 Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000090825
Gene: ENSMUSG00000036644
AA Change: I934F

DomainStartEndE-ValueType
low complexity region 35 51 N/A INTRINSIC
GRAM 142 209 1.21e-26 SMART
GRAM 288 356 3.02e-22 SMART
low complexity region 357 368 N/A INTRINSIC
low complexity region 422 447 N/A INTRINSIC
low complexity region 470 481 N/A INTRINSIC
TBC 506 719 1.18e-57 SMART
Blast:TBC 727 810 2e-28 BLAST
low complexity region 1124 1138 N/A INTRINSIC
low complexity region 1144 1155 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000101270
AA Change: I934F

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000098828
Gene: ENSMUSG00000036644
AA Change: I934F

DomainStartEndE-ValueType
low complexity region 35 51 N/A INTRINSIC
GRAM 142 209 1.21e-26 SMART
GRAM 288 356 3.02e-22 SMART
low complexity region 357 368 N/A INTRINSIC
low complexity region 422 447 N/A INTRINSIC
low complexity region 470 481 N/A INTRINSIC
TBC 506 719 1.18e-57 SMART
Blast:TBC 727 810 3e-28 BLAST
low complexity region 970 980 N/A INTRINSIC
low complexity region 1141 1155 N/A INTRINSIC
low complexity region 1161 1172 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (62/62)
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810065E05Rik A G 11: 58,316,571 (GRCm39) T184A possibly damaging Het
Abca4 T A 3: 121,926,292 (GRCm39) Y1243N probably damaging Het
Adamts7 A G 9: 90,076,017 (GRCm39) T1250A possibly damaging Het
Adgrg3 T C 8: 95,761,591 (GRCm39) V118A possibly damaging Het
Agrn A G 4: 156,263,332 (GRCm39) V364A possibly damaging Het
Cacna2d1 C A 5: 16,562,782 (GRCm39) L853I probably damaging Het
Ccdc25 A G 14: 66,094,165 (GRCm39) K124R probably benign Het
Ccdc73 A G 2: 104,803,569 (GRCm39) M236V probably benign Het
Cdh1 G A 8: 107,395,176 (GRCm39) D862N possibly damaging Het
Cdh5 A G 8: 104,867,400 (GRCm39) D559G probably damaging Het
Celsr2 C A 3: 108,305,181 (GRCm39) G2133C probably damaging Het
Chd5 A G 4: 152,469,896 (GRCm39) N1823S probably damaging Het
Cog7 T C 7: 121,534,999 (GRCm39) N562S probably damaging Het
Dcaf6 A T 1: 165,179,537 (GRCm39) S534R probably benign Het
Donson G A 16: 91,479,009 (GRCm39) R436* probably null Het
Fam53c T A 18: 34,895,523 (GRCm39) probably null Het
Foxi3 A G 6: 70,937,730 (GRCm39) T321A probably benign Het
Frmd4b A T 6: 97,273,192 (GRCm39) Y733* probably null Het
Fscn2 A T 11: 120,257,580 (GRCm39) T314S probably benign Het
Gfral A G 9: 76,072,112 (GRCm39) I386T possibly damaging Het
Gm21698 T C 5: 26,190,175 (GRCm39) E174G probably damaging Het
Gm40460 CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG 7: 141,794,554 (GRCm39) probably benign Het
Gprin1 T C 13: 54,887,056 (GRCm39) D406G probably benign Het
Habp2 A T 19: 56,299,596 (GRCm39) R128* probably null Het
Hoxc10 A T 15: 102,879,356 (GRCm39) Y292F probably damaging Het
Hydin A T 8: 111,081,583 (GRCm39) probably null Het
Igkv12-89 T C 6: 68,812,115 (GRCm39) D18G probably damaging Het
Jhy T C 9: 40,828,556 (GRCm39) N450S probably damaging Het
Klhl18 T A 9: 110,279,833 (GRCm39) Q119L probably damaging Het
Krt1 AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC 15: 101,758,813 (GRCm39) probably benign Het
Lsmem1 A T 12: 40,235,272 (GRCm39) probably null Het
Ly75 A G 2: 60,206,528 (GRCm39) I47T probably benign Het
Med12l C A 3: 59,169,645 (GRCm39) T1603K possibly damaging Het
Mgat5 A G 1: 127,310,716 (GRCm39) D210G possibly damaging Het
Mgmt G T 7: 136,687,715 (GRCm39) G55W probably damaging Het
Mrpl57 G A 14: 58,063,754 (GRCm39) probably benign Het
Mtg1 G A 7: 139,726,779 (GRCm39) R209Q probably benign Het
Muc21 CGGGGTGGGTGTAGATCCTGAGGCAGTGCTGGATACAGGGGTGGTTGGGGTGGGTGAAGAGCCTGAGGCAGTGCTGGATGCAGGGGTGGTCGGGGTAGGTGTAGATCCTGAGGCAGTGCT CGGGGTGGGTGAAGAGCCTGAGGCAGTGCTGGATGCAGGGGTGGTCGGGGTAGGTGTAGATCCTGAGGCAGTGCT 17: 35,933,510 (GRCm39) probably benign Het
Muc5ac T G 7: 141,353,559 (GRCm39) C826W possibly damaging Het
Myot A G 18: 44,474,453 (GRCm39) D146G probably damaging Het
Nlrp4f T A 13: 65,347,160 (GRCm39) I11F probably damaging Het
Nsun5 T A 5: 135,400,104 (GRCm39) Y76N probably damaging Het
Or7a42 A T 10: 78,791,284 (GRCm39) M82L possibly damaging Het
Pcdhb3 A G 18: 37,435,975 (GRCm39) N647S possibly damaging Het
Pdgfra T A 5: 75,349,895 (GRCm39) Y926* probably null Het
Pdzd2 A T 15: 12,368,099 (GRCm39) L2630H probably damaging Het
Phox2b G A 5: 67,253,505 (GRCm39) S297L unknown Het
Polr3e T A 7: 120,539,510 (GRCm39) probably null Het
Ppp4r2 T A 6: 100,842,823 (GRCm39) V238E probably damaging Het
Proc A T 18: 32,266,441 (GRCm39) F129I probably benign Het
Sgca T A 11: 94,854,227 (GRCm39) probably null Het
Slc7a10 A G 7: 34,899,009 (GRCm39) H360R probably benign Het
Slurp2 G A 15: 74,614,964 (GRCm39) T59I probably benign Het
Son A G 16: 91,453,406 (GRCm39) T718A probably benign Het
Sorbs1 G C 19: 40,365,244 (GRCm39) R180G probably benign Het
Spink7 T C 18: 62,727,338 (GRCm39) N62S probably damaging Het
Stxbp3 C A 3: 108,723,649 (GRCm39) R195S probably damaging Het
Sulf1 G A 1: 12,908,825 (GRCm39) V613M probably damaging Het
Tecpr2 T G 12: 110,885,406 (GRCm39) L195R probably damaging Het
Tns2 G C 15: 102,013,801 (GRCm39) C71S probably damaging Het
Tulp4 C T 17: 6,282,055 (GRCm39) H695Y probably damaging Het
Usp40 G T 1: 87,913,884 (GRCm39) T403K probably benign Het
Vat1 G T 11: 101,356,539 (GRCm39) R141S possibly damaging Het
Vmn2r28 T G 7: 5,493,733 (GRCm39) N71T probably benign Het
Other mutations in Tbc1d9b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01868:Tbc1d9b APN 11 50,052,460 (GRCm39) missense probably damaging 1.00
IGL01870:Tbc1d9b APN 11 50,052,915 (GRCm39) missense probably damaging 1.00
IGL02082:Tbc1d9b APN 11 50,054,709 (GRCm39) missense probably benign 0.00
IGL02105:Tbc1d9b APN 11 50,040,653 (GRCm39) missense probably damaging 0.96
IGL02264:Tbc1d9b APN 11 50,040,584 (GRCm39) missense probably damaging 0.98
IGL02801:Tbc1d9b APN 11 50,043,657 (GRCm39) missense probably damaging 1.00
IGL03111:Tbc1d9b APN 11 50,049,369 (GRCm39) missense probably damaging 1.00
IGL02988:Tbc1d9b UTSW 11 50,042,773 (GRCm39) missense possibly damaging 0.80
R0102:Tbc1d9b UTSW 11 50,026,676 (GRCm39) missense probably damaging 1.00
R0109:Tbc1d9b UTSW 11 50,049,261 (GRCm39) missense probably benign 0.02
R0131:Tbc1d9b UTSW 11 50,026,751 (GRCm39) missense probably benign
R0463:Tbc1d9b UTSW 11 50,035,894 (GRCm39) missense probably benign 0.00
R0472:Tbc1d9b UTSW 11 50,059,055 (GRCm39) splice site probably null
R0846:Tbc1d9b UTSW 11 50,062,148 (GRCm39) missense probably benign 0.01
R1099:Tbc1d9b UTSW 11 50,037,135 (GRCm39) missense probably benign 0.04
R1276:Tbc1d9b UTSW 11 50,043,476 (GRCm39) missense possibly damaging 0.87
R1642:Tbc1d9b UTSW 11 50,040,659 (GRCm39) missense probably damaging 0.98
R2679:Tbc1d9b UTSW 11 50,052,528 (GRCm39) splice site probably null
R2915:Tbc1d9b UTSW 11 50,040,563 (GRCm39) missense possibly damaging 0.95
R3825:Tbc1d9b UTSW 11 50,061,954 (GRCm39) missense possibly damaging 0.85
R3964:Tbc1d9b UTSW 11 50,059,523 (GRCm39) missense possibly damaging 0.50
R4051:Tbc1d9b UTSW 11 50,062,070 (GRCm39) missense probably benign 0.09
R4705:Tbc1d9b UTSW 11 50,031,289 (GRCm39) missense probably benign 0.33
R4783:Tbc1d9b UTSW 11 50,062,125 (GRCm39) missense probably benign 0.00
R5330:Tbc1d9b UTSW 11 50,037,140 (GRCm39) missense probably benign
R5331:Tbc1d9b UTSW 11 50,037,140 (GRCm39) missense probably benign
R5888:Tbc1d9b UTSW 11 50,031,311 (GRCm39) missense probably benign 0.15
R5949:Tbc1d9b UTSW 11 50,038,876 (GRCm39) missense probably benign
R6144:Tbc1d9b UTSW 11 50,037,155 (GRCm39) missense probably benign
R6166:Tbc1d9b UTSW 11 50,026,673 (GRCm39) missense probably damaging 1.00
R6331:Tbc1d9b UTSW 11 50,022,324 (GRCm39) missense possibly damaging 0.95
R6432:Tbc1d9b UTSW 11 50,037,155 (GRCm39) missense probably benign
R6856:Tbc1d9b UTSW 11 50,059,573 (GRCm39) missense probably benign 0.11
R7134:Tbc1d9b UTSW 11 50,043,519 (GRCm39) missense possibly damaging 0.55
R7372:Tbc1d9b UTSW 11 50,059,515 (GRCm39) splice site probably null
R7464:Tbc1d9b UTSW 11 50,022,312 (GRCm39) missense probably damaging 1.00
R7508:Tbc1d9b UTSW 11 50,035,947 (GRCm39) missense probably damaging 0.97
R7584:Tbc1d9b UTSW 11 50,061,543 (GRCm39) missense probably damaging 1.00
R7730:Tbc1d9b UTSW 11 50,026,742 (GRCm39) missense possibly damaging 0.89
R7747:Tbc1d9b UTSW 11 50,052,447 (GRCm39) missense probably benign 0.39
R8260:Tbc1d9b UTSW 11 50,055,013 (GRCm39) missense probably benign 0.26
R8345:Tbc1d9b UTSW 11 50,040,659 (GRCm39) missense probably damaging 0.98
R8711:Tbc1d9b UTSW 11 50,047,578 (GRCm39) missense probably damaging 1.00
R8979:Tbc1d9b UTSW 11 50,061,809 (GRCm39) missense probably benign 0.00
R9012:Tbc1d9b UTSW 11 50,040,688 (GRCm39) missense probably benign 0.00
R9300:Tbc1d9b UTSW 11 50,054,714 (GRCm39) missense probably benign 0.00
R9655:Tbc1d9b UTSW 11 50,059,610 (GRCm39) missense possibly damaging 0.93
R9794:Tbc1d9b UTSW 11 50,062,005 (GRCm39) missense probably benign 0.28
X0065:Tbc1d9b UTSW 11 50,059,010 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- CATGTACTGCATTTCCCAAAACAG -3'
(R):5'- AATGTCTACAGGGGCCAGTC -3'

Sequencing Primer
(F):5'- CAGTTATCAGGGACTTAGCTCAGC -3'
(R):5'- AGTCTGGCCCAGGGAGTG -3'
Posted On 2019-05-15