Incidental Mutation 'R0330:BC049715'
ID 25989
Institutional Source Beutler Lab
Gene Symbol BC049715
Ensembl Gene ENSMUSG00000047515
Gene Name cDNA sequence BC049715
Synonyms
MMRRC Submission 038539-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0330 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 136804624-136817660 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 136817035 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 92 (T92A)
Ref Sequence ENSEMBL: ENSMUSP00000145015 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052702] [ENSMUST00000068293] [ENSMUST00000111894] [ENSMUST00000163640] [ENSMUST00000203468] [ENSMUST00000203499] [ENSMUST00000204086]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000052702
AA Change: T92A

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000049512
Gene: ENSMUSG00000047515
AA Change: T92A

DomainStartEndE-ValueType
Pfam:DUF4533 8 235 1.3e-64 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000068293
SMART Domains Protein: ENSMUSP00000066235
Gene: ENSMUSG00000043298

DomainStartEndE-ValueType
Pfam:DUF4533 14 221 1.9e-83 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111894
SMART Domains Protein: ENSMUSP00000107525
Gene: ENSMUSG00000043298

DomainStartEndE-ValueType
Pfam:DUF4533 14 221 2.4e-65 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000163640
AA Change: T92A

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000133266
Gene: ENSMUSG00000047515
AA Change: T92A

DomainStartEndE-ValueType
Pfam:DUF4533 8 235 1.6e-97 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000203468
SMART Domains Protein: ENSMUSP00000144838
Gene: ENSMUSG00000043298

DomainStartEndE-ValueType
Pfam:DUF4533 14 221 2.4e-65 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000203499
AA Change: T92A

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000145015
Gene: ENSMUSG00000047515
AA Change: T92A

DomainStartEndE-ValueType
Pfam:DUF4533 8 235 1.6e-97 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000204086
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.7%
  • 10x: 94.7%
  • 20x: 88.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 95 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaa1b T C 9: 118,983,038 (GRCm39) N120S probably damaging Het
Acsbg3 A T 17: 57,190,631 (GRCm39) I400F probably benign Het
Acvr1c T C 2: 58,174,850 (GRCm39) T313A probably damaging Het
Adamtsl3 A T 7: 82,171,198 (GRCm39) D417V probably damaging Het
Adgrf4 A T 17: 42,978,204 (GRCm39) C380S probably damaging Het
AI597479 T G 1: 43,150,277 (GRCm39) L129R probably benign Het
AI661453 G A 17: 47,757,571 (GRCm39) R76Q probably damaging Het
Anpep C T 7: 79,488,004 (GRCm39) E518K probably benign Het
Anxa7 A C 14: 20,519,566 (GRCm39) probably null Het
Arhgap12 T A 18: 6,039,382 (GRCm39) D455V probably damaging Het
Arhgap22 A G 14: 33,091,374 (GRCm39) R650G possibly damaging Het
Arhgef12 A C 9: 42,931,982 (GRCm39) H168Q probably damaging Het
Arhgef2 A G 3: 88,549,808 (GRCm39) H592R probably damaging Het
Bcr C T 10: 75,017,466 (GRCm39) T1209I possibly damaging Het
Bmpr1a C T 14: 34,151,734 (GRCm39) S185N probably benign Het
Calcoco1 A T 15: 102,624,198 (GRCm39) M246K probably benign Het
Capn8 T A 1: 182,457,703 (GRCm39) I689N probably benign Het
Ccno T A 13: 113,126,530 (GRCm39) L333Q probably damaging Het
Cep57 G A 9: 13,728,281 (GRCm39) R148W probably damaging Het
Cftr T A 6: 18,226,096 (GRCm39) M318K probably null Het
Chd3 T G 11: 69,247,159 (GRCm39) D1003A probably damaging Het
Ckmt2 T A 13: 92,011,322 (GRCm39) D96V possibly damaging Het
Cldn13 A G 5: 134,944,176 (GRCm39) V3A probably benign Het
Col17a1 T C 19: 47,658,871 (GRCm39) T413A probably benign Het
Cpne5 A T 17: 29,430,634 (GRCm39) L92H probably damaging Het
Dnaaf2 C A 12: 69,244,518 (GRCm39) R181L probably damaging Het
Erbin C A 13: 104,005,373 (GRCm39) C114F probably damaging Het
Fads2b T A 2: 85,348,895 (GRCm39) R72S probably benign Het
Fanca A T 8: 124,000,911 (GRCm39) C1156* probably null Het
Flot2 T A 11: 77,949,784 (GRCm39) I322N possibly damaging Het
Fstl5 T C 3: 76,615,060 (GRCm39) V707A possibly damaging Het
Gli3 T G 13: 15,898,143 (GRCm39) L741R probably damaging Het
Gmip G T 8: 70,263,468 (GRCm39) S70I probably benign Het
Gnptab T C 10: 88,276,171 (GRCm39) S1153P probably damaging Het
Gramd1a T C 7: 30,837,679 (GRCm39) D360G possibly damaging Het
Gtf2i T C 5: 134,280,740 (GRCm39) E518G probably damaging Het
Hsp90b1 T C 10: 86,530,019 (GRCm39) E226G probably damaging Het
Impg2 A G 16: 56,072,627 (GRCm39) Y353C probably damaging Het
Kank1 A G 19: 25,401,677 (GRCm39) K1095E probably benign Het
Kcnh4 C T 11: 100,648,569 (GRCm39) C45Y probably damaging Het
Kif13b A G 14: 65,040,669 (GRCm39) T1590A probably benign Het
Lpin3 T C 2: 160,747,225 (GRCm39) V827A probably benign Het
Lrp1b A T 2: 40,591,773 (GRCm39) C73* probably null Het
Mcm8 A G 2: 132,661,914 (GRCm39) K83E possibly damaging Het
Med12l A G 3: 59,135,123 (GRCm39) E757G probably damaging Het
Mep1a A G 17: 43,808,789 (GRCm39) probably null Het
Mtor T A 4: 148,568,837 (GRCm39) V1119E probably benign Het
Mybpc2 C T 7: 44,158,453 (GRCm39) A710T possibly damaging Het
Myof A C 19: 37,924,326 (GRCm39) I1297S probably damaging Het
Nacad A G 11: 6,550,903 (GRCm39) S763P probably benign Het
Nbea A G 3: 55,550,238 (GRCm39) V2730A probably benign Het
Nbeal1 A G 1: 60,307,222 (GRCm39) Y1684C probably damaging Het
Optn A T 2: 5,039,066 (GRCm39) N352K possibly damaging Het
Or10k2 A G 8: 84,268,142 (GRCm39) Y123C probably damaging Het
Or2g1 A T 17: 38,106,880 (GRCm39) M182L probably benign Het
Or7g16 A G 9: 18,726,937 (GRCm39) Y218H probably damaging Het
Or9g4b T A 2: 85,616,147 (GRCm39) C97* probably null Het
Pcif1 G T 2: 164,731,364 (GRCm39) R466L probably damaging Het
Phxr2 T C 10: 98,961,979 (GRCm39) probably benign Het
Plaat5 T A 19: 7,614,663 (GRCm39) probably null Het
Plb1 T A 5: 32,512,701 (GRCm39) F1353Y probably damaging Het
Plec A G 15: 76,075,618 (GRCm39) probably null Het
Polr1a T A 6: 71,943,400 (GRCm39) C1212S possibly damaging Het
Primpol A T 8: 47,063,496 (GRCm39) N53K probably damaging Het
Pygo2 T A 3: 89,340,461 (GRCm39) N286K possibly damaging Het
Rttn G A 18: 89,004,204 (GRCm39) probably null Het
Serpinb3b G T 1: 107,087,433 (GRCm39) N25K probably damaging Het
Sidt2 A G 9: 45,866,200 (GRCm39) I2T probably benign Het
Slc12a3 A T 8: 95,072,974 (GRCm39) N699I possibly damaging Het
Slc25a30 G A 14: 76,000,112 (GRCm39) Q285* probably null Het
Slc4a9 A T 18: 36,668,592 (GRCm39) H724L probably damaging Het
Ssbp2 T A 13: 91,828,698 (GRCm39) probably null Het
Stac3 C A 10: 127,343,616 (GRCm39) probably null Het
Stk32a A G 18: 43,446,566 (GRCm39) K339E probably benign Het
Stoml2 A G 4: 43,030,238 (GRCm39) probably null Het
Syne2 G T 12: 76,013,727 (GRCm39) G2974C probably benign Het
Tbc1d16 A G 11: 119,049,555 (GRCm39) probably null Het
Tfdp2 T G 9: 96,188,946 (GRCm39) F200V probably damaging Het
Tie1 C A 4: 118,341,924 (GRCm39) R175L probably benign Het
Trappc12 A G 12: 28,797,259 (GRCm39) V91A probably benign Het
Trim46 G T 3: 89,143,820 (GRCm39) P536Q probably damaging Het
Tshz3 T A 7: 36,469,458 (GRCm39) D482E probably benign Het
Tspan33 T C 6: 29,711,091 (GRCm39) probably null Het
Unc80 T C 1: 66,713,246 (GRCm39) L2788P possibly damaging Het
Utp20 T A 10: 88,653,841 (GRCm39) T260S probably benign Het
Vmn2r118 G T 17: 55,917,717 (GRCm39) T265K probably damaging Het
Vmn2r98 A C 17: 19,286,609 (GRCm39) H369P probably benign Het
Vps39 A T 2: 120,169,268 (GRCm39) Y245N possibly damaging Het
Vps4a A C 8: 107,769,698 (GRCm39) I336L probably benign Het
Xylb T C 9: 119,210,653 (GRCm39) S379P probably damaging Het
Zbtb37 T C 1: 160,860,066 (GRCm39) T80A probably benign Het
Zfhx3 A G 8: 109,675,589 (GRCm39) D2213G probably damaging Het
Zfp729a G T 13: 67,768,473 (GRCm39) H585Q probably damaging Het
Zfp804b A T 5: 6,821,029 (GRCm39) I642N possibly damaging Het
Zfp804b A T 5: 6,821,994 (GRCm39) N356K possibly damaging Het
Other mutations in BC049715
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00954:BC049715 APN 6 136,817,093 (GRCm39) missense possibly damaging 0.80
IGL01834:BC049715 APN 6 136,817,489 (GRCm39) missense probably benign 0.26
R0375:BC049715 UTSW 6 136,816,994 (GRCm39) missense probably benign 0.12
R0419:BC049715 UTSW 6 136,817,143 (GRCm39) missense possibly damaging 0.71
R1437:BC049715 UTSW 6 136,817,090 (GRCm39) missense probably damaging 0.99
R1734:BC049715 UTSW 6 136,817,306 (GRCm39) missense probably damaging 1.00
R1737:BC049715 UTSW 6 136,817,306 (GRCm39) missense probably damaging 1.00
R1738:BC049715 UTSW 6 136,817,306 (GRCm39) missense probably damaging 1.00
R2264:BC049715 UTSW 6 136,817,434 (GRCm39) nonsense probably null
R3004:BC049715 UTSW 6 136,816,790 (GRCm39) missense possibly damaging 0.80
R3937:BC049715 UTSW 6 136,817,453 (GRCm39) missense possibly damaging 0.93
R3938:BC049715 UTSW 6 136,817,453 (GRCm39) missense possibly damaging 0.93
R4459:BC049715 UTSW 6 136,817,050 (GRCm39) missense probably damaging 0.99
R4806:BC049715 UTSW 6 136,816,927 (GRCm39) missense possibly damaging 0.93
R5086:BC049715 UTSW 6 136,817,429 (GRCm39) missense probably damaging 1.00
R6280:BC049715 UTSW 6 136,817,229 (GRCm39) nonsense probably null
R7383:BC049715 UTSW 6 136,817,453 (GRCm39) missense probably damaging 0.98
R7554:BC049715 UTSW 6 136,817,295 (GRCm39) missense probably damaging 0.99
R8055:BC049715 UTSW 6 136,816,913 (GRCm39) missense possibly damaging 0.95
R8768:BC049715 UTSW 6 136,816,979 (GRCm39) missense possibly damaging 0.71
Predicted Primers PCR Primer
(F):5'- TGGCAGACAGTCAGGAGCGTTTAC -3'
(R):5'- ACCCATGATGGGGAACTGCATCAG -3'

Sequencing Primer
(F):5'- GACAGTCAGGAGCGTTTACTATCC -3'
(R):5'- GGGAACTGCATCAGGAGTG -3'
Posted On 2013-04-16