Incidental Mutation 'R3727:BC035044'
ID 270834
Institutional Source Beutler Lab
Gene Symbol BC035044
Ensembl Gene ENSMUSG00000090164
Gene Name cDNA sequence BC035044
Synonyms
MMRRC Submission 040718-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.127) question?
Stock # R3727 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 128826053-128868089 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to A at 128867822 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Stop codon at position 37 (G37*)
Ref Sequence ENSEMBL: ENSMUSP00000137315 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032519] [ENSMUST00000159866] [ENSMUST00000160290] [ENSMUST00000160867] [ENSMUST00000162666] [ENSMUST00000178918]
AlphaFold E0CXF8
Predicted Effect probably benign
Transcript: ENSMUST00000032519
SMART Domains Protein: ENSMUSP00000032519
Gene: ENSMUSG00000030365

DomainStartEndE-ValueType
transmembrane domain 54 76 N/A INTRINSIC
CLECT 92 203 3.78e-20 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159080
Predicted Effect probably benign
Transcript: ENSMUST00000159866
SMART Domains Protein: ENSMUSP00000123804
Gene: ENSMUSG00000030365

DomainStartEndE-ValueType
transmembrane domain 58 80 N/A INTRINSIC
CLECT 96 207 3.78e-20 SMART
Predicted Effect probably null
Transcript: ENSMUST00000160290
AA Change: G37*
Predicted Effect probably benign
Transcript: ENSMUST00000160867
SMART Domains Protein: ENSMUSP00000145115
Gene: ENSMUSG00000030365

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
CLECT 31 142 1.9e-22 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000162666
SMART Domains Protein: ENSMUSP00000124910
Gene: ENSMUSG00000030365

DomainStartEndE-ValueType
transmembrane domain 83 105 N/A INTRINSIC
CLECT 121 232 3.78e-20 SMART
Predicted Effect probably null
Transcript: ENSMUST00000178918
AA Change: G37*
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.6%
Validation Efficiency 100% (39/39)
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ago2 C T 15: 72,985,706 (GRCm39) V630M probably damaging Het
Alk T C 17: 72,208,395 (GRCm39) probably benign Het
Atp6v0a1 T A 11: 100,921,246 (GRCm39) S243T probably benign Het
C3 G T 17: 57,514,379 (GRCm39) N1435K possibly damaging Het
Caly T C 7: 139,650,417 (GRCm39) E175G probably damaging Het
Ccng2 T C 5: 93,422,810 (GRCm39) F330S probably damaging Het
Cemip2 G A 19: 21,822,075 (GRCm39) A1157T probably benign Het
Cyp2c38 A G 19: 39,380,739 (GRCm39) probably benign Het
Cypt1 T A X: 16,389,674 (GRCm39) L128* probably null Het
Dmgdh A G 13: 93,828,575 (GRCm39) N239D probably damaging Het
Dnah8 C T 17: 30,958,622 (GRCm39) Q2155* probably null Het
Dpp3 A G 19: 4,973,213 (GRCm39) I127T probably benign Het
Eps15 G T 4: 109,227,882 (GRCm39) probably benign Het
Exosc10 A G 4: 148,649,734 (GRCm39) D388G probably damaging Het
Flt3 C A 5: 147,291,733 (GRCm39) R572S probably damaging Het
Gm44501 T C 17: 40,887,506 (GRCm39) F8S unknown Het
Hormad2 C A 11: 4,358,598 (GRCm39) G270C probably benign Het
Ifrd2 C T 9: 107,468,881 (GRCm39) R40* probably null Het
Ina G A 19: 47,004,158 (GRCm39) R322H possibly damaging Het
Kif13b A G 14: 65,003,197 (GRCm39) probably benign Het
Lrp2 T C 2: 69,340,773 (GRCm39) N1034S probably damaging Het
Macf1 T A 4: 123,353,104 (GRCm39) E1770V probably damaging Het
Mpi T C 9: 57,452,132 (GRCm39) I381M possibly damaging Het
Nfix CAAAAA CAAAA 8: 85,442,876 (GRCm39) probably null Het
Nt5c C T 11: 115,381,474 (GRCm39) W185* probably null Het
Or2j3 A T 17: 38,616,310 (GRCm39) I14N possibly damaging Het
Or2y1e G A 11: 49,218,622 (GRCm39) R128H probably benign Het
Pcdhga9 G A 18: 37,871,995 (GRCm39) R608H probably benign Het
Pdzrn3 T A 6: 101,133,906 (GRCm39) D441V probably damaging Het
Rab42 A G 4: 132,029,964 (GRCm39) M86T probably benign Het
Slc52a3 C T 2: 151,847,701 (GRCm39) P270S probably benign Het
Stpg2 T C 3: 139,004,257 (GRCm39) F278S probably damaging Het
Styxl2 G A 1: 165,927,075 (GRCm39) R846C probably damaging Het
Tmem240 T C 4: 155,824,235 (GRCm39) probably benign Het
Vmn2r22 A G 6: 123,627,584 (GRCm39) L4P possibly damaging Het
Vmn2r95 C T 17: 18,661,744 (GRCm39) Q497* probably null Het
Wnk1 T C 6: 119,969,414 (GRCm39) H347R probably damaging Het
Zmym2 A T 14: 57,156,806 (GRCm39) probably benign Het
Other mutations in BC035044
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1406:BC035044 UTSW 6 128,862,047 (GRCm39) splice site probably null
R1406:BC035044 UTSW 6 128,862,047 (GRCm39) splice site probably null
R1543:BC035044 UTSW 6 128,867,948 (GRCm39) start gained probably benign
R2147:BC035044 UTSW 6 128,867,867 (GRCm39) intron probably benign
R4115:BC035044 UTSW 6 128,867,813 (GRCm39) intron probably benign
R5102:BC035044 UTSW 6 128,861,949 (GRCm39) unclassified probably benign
R5431:BC035044 UTSW 6 128,861,970 (GRCm39) unclassified probably benign
R6180:BC035044 UTSW 6 128,861,997 (GRCm39) unclassified probably benign
R6273:BC035044 UTSW 6 128,867,852 (GRCm39) intron probably benign
R6467:BC035044 UTSW 6 128,867,855 (GRCm39) intron probably benign
X0025:BC035044 UTSW 6 128,867,804 (GRCm39) intron probably benign
X0028:BC035044 UTSW 6 128,867,827 (GRCm39) intron probably benign
Predicted Primers PCR Primer
(F):5'- AAGCCTTCTTTCTAATCCTAAGGC -3'
(R):5'- CATCTCACCAGCAGTGCATG -3'

Sequencing Primer
(F):5'- TAAGGACTGAGGTTTCACTCCCAG -3'
(R):5'- AGCAGTGCATGTTTCTGACACAC -3'
Posted On 2015-03-18