Incidental Mutation 'R1406:BC035044'
ID 160384
Institutional Source Beutler Lab
Gene Symbol BC035044
Ensembl Gene ENSMUSG00000090164
Gene Name cDNA sequence BC035044
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.127) question?
Stock # R1406 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 128826053-128868089 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 128862047 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000137315 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032519] [ENSMUST00000159866] [ENSMUST00000160290] [ENSMUST00000160290] [ENSMUST00000160867] [ENSMUST00000162666] [ENSMUST00000178918] [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
Predicted Effect probably null
Transcript: ENSMUST00000160290
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
Predicted Effect probably null
Transcript: ENSMUST00000178918
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203621
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 98.2%
  • 10x: 92.2%
  • 20x: 76.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap11 T C 14: 78,750,189 (GRCm39) T733A probably benign Het
Antxrl A G 14: 33,794,999 (GRCm39) N476D possibly damaging Het
Armc8 G T 9: 99,405,301 (GRCm39) P268Q probably benign Het
Asb8 C A 15: 98,034,304 (GRCm39) G84C probably damaging Het
Caprin1 A G 2: 103,606,332 (GRCm39) F303L probably benign Het
Cdh20 G A 1: 109,988,862 (GRCm39) V255I probably benign Het
Ctdspl2 G A 2: 121,837,349 (GRCm39) R371Q probably damaging Het
Dctn4 T A 18: 60,689,402 (GRCm39) D431E probably benign Het
Dhx40 T C 11: 86,688,571 (GRCm39) E284G probably benign Het
Dhx9 A G 1: 153,340,684 (GRCm39) V652A probably damaging Het
Fnip2 G T 3: 79,415,398 (GRCm39) N213K possibly damaging Het
Gm17535 A G 9: 3,035,804 (GRCm39) Y224C probably null Het
Itch A G 2: 155,048,274 (GRCm39) E546G possibly damaging Het
Map3k20 A T 2: 72,219,838 (GRCm39) I257F probably damaging Het
Mdc1 C T 17: 36,164,424 (GRCm39) T1324I probably benign Het
Mertk T C 2: 128,613,406 (GRCm39) I474T probably benign Het
Nav3 A G 10: 109,719,495 (GRCm39) V156A possibly damaging Het
Nbea A G 3: 55,944,702 (GRCm39) V554A probably benign Het
Or10z1 T A 1: 174,078,427 (GRCm39) E22V possibly damaging Het
Or13c7c C T 4: 43,835,582 (GRCm39) V303M possibly damaging Het
Or4f57 A G 2: 111,790,926 (GRCm39) V164A probably benign Het
Pask A G 1: 93,249,373 (GRCm39) Y676H probably benign Het
Pcare T C 17: 72,056,156 (GRCm39) N1174D probably benign Het
Rab32 A G 10: 10,426,637 (GRCm39) V103A probably damaging Het
Rp1 T C 1: 4,422,144 (GRCm39) E262G possibly damaging Het
Rtn4 A G 11: 29,658,236 (GRCm39) T797A probably benign Het
Sall1 A T 8: 89,759,072 (GRCm39) I344K probably benign Het
Scnn1b T C 7: 121,501,767 (GRCm39) probably null Het
Slc7a2 G T 8: 41,358,622 (GRCm39) G322W probably damaging Het
Snx29 A G 16: 11,217,657 (GRCm39) M153V probably benign Het
Sp110 T G 1: 85,506,800 (GRCm39) E421A probably benign Het
Stk4 C T 2: 163,942,448 (GRCm39) T360M probably benign Het
Ush1c A C 7: 45,874,965 (GRCm39) probably null Het
Vmn2r8 C T 5: 108,950,234 (GRCm39) M204I probably benign Het
Zfp839 C T 12: 110,832,744 (GRCm39) T554M probably damaging Het
Other mutations in BC035044
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R3727:BC035044 UTSW 6 128,867,822 (GRCm39) nonsense probably null
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'- ACTGATTTCGGCCTATTGACCATCCA -3'
(R):5'- gGGCATcagattctttctgttcatgcta -3'

Sequencing Primer
(F):5'- CTATTGTAAGAGCCAGTCAGTGC -3'
(R):5'- gttcatgctaagcacatgacc -3'
Posted On 2014-03-14