Incidental Mutation 'R1288:BC005537'
ID 150680
Institutional Source Beutler Lab
Gene Symbol BC005537
Ensembl Gene ENSMUSG00000019132
Gene Name cDNA sequence BC005537
Synonyms 8030460C05Rik
MMRRC Submission 039354-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.209) question?
Stock # R1288 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 24985640-24996882 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 24988883 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Valine at position 54 (E54V)
Ref Sequence ENSEMBL: ENSMUSP00000123652 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019276] [ENSMUST00000155575]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000019276
AA Change: E83V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000019276
Gene: ENSMUSG00000019132
AA Change: E83V

DomainStartEndE-ValueType
Pfam:DUF4566 1 226 5.9e-142 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000155575
AA Change: E54V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000123652
Gene: ENSMUSG00000019132
AA Change: E54V

DomainStartEndE-ValueType
Pfam:DUF4566 10 167 1.6e-102 PFAM
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.1%
  • 10x: 95.6%
  • 20x: 90.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrd1 A T 5: 129,206,071 (GRCm39) D247V probably damaging Het
Ano5 A T 7: 51,196,620 (GRCm39) S184C probably damaging Het
Anpep C T 7: 79,488,004 (GRCm39) E518K probably benign Het
Atxn3 C T 12: 101,908,437 (GRCm39) probably null Het
Ccdc150 A T 1: 54,403,617 (GRCm39) E881V probably damaging Het
Cep126 A T 9: 8,112,182 (GRCm39) N130K probably benign Het
Enoph1 A G 5: 100,188,138 (GRCm39) T21A possibly damaging Het
Fbxw28 A G 9: 109,166,361 (GRCm39) I165T probably damaging Het
Lrp12 A T 15: 39,741,799 (GRCm39) N305K probably damaging Het
Msl2 A G 9: 100,979,308 (GRCm39) T561A probably benign Het
Mup21 G T 4: 62,068,934 (GRCm39) A19E probably benign Het
Myh13 T C 11: 67,244,544 (GRCm39) I1027T probably benign Het
Nkg7 A G 7: 43,087,086 (GRCm39) probably null Het
Nme8 A G 13: 19,858,619 (GRCm39) V73A possibly damaging Het
Or2g1 T A 17: 38,106,584 (GRCm39) L83Q probably damaging Het
Or2n1e A G 17: 38,586,114 (GRCm39) T151A probably benign Het
Or52a5 A T 7: 103,427,249 (GRCm39) L101Q possibly damaging Het
Or5w12 G A 2: 87,501,916 (GRCm39) A265V probably benign Het
Or6c69c A G 10: 129,911,154 (GRCm39) N292D probably damaging Het
Rapgef3 C A 15: 97,657,223 (GRCm39) S267I probably benign Het
Trhde T A 10: 114,637,195 (GRCm39) D4V probably benign Het
Vmn1r234 CTT CTTT 17: 21,449,513 (GRCm39) probably null Het
Zfp40 T A 17: 23,401,136 (GRCm39) I36L probably benign Het
Other mutations in BC005537
AlleleSourceChrCoordTypePredicted EffectPPH Score
E_pluribus_unum UTSW 13 24,987,382 (GRCm39) missense possibly damaging 0.95
R0096:BC005537 UTSW 13 24,989,923 (GRCm39) missense probably damaging 0.98
R0096:BC005537 UTSW 13 24,989,923 (GRCm39) missense probably damaging 0.98
R0711:BC005537 UTSW 13 24,989,923 (GRCm39) missense probably damaging 0.98
R1453:BC005537 UTSW 13 24,989,969 (GRCm39) critical splice donor site probably null
R2084:BC005537 UTSW 13 24,996,698 (GRCm39) splice site probably null
R2391:BC005537 UTSW 13 24,993,898 (GRCm39) nonsense probably null
R4052:BC005537 UTSW 13 24,993,881 (GRCm39) missense possibly damaging 0.68
R4580:BC005537 UTSW 13 24,987,394 (GRCm39) missense probably benign 0.12
R7699:BC005537 UTSW 13 24,987,382 (GRCm39) missense possibly damaging 0.95
R7748:BC005537 UTSW 13 24,987,382 (GRCm39) missense possibly damaging 0.95
R7779:BC005537 UTSW 13 24,987,382 (GRCm39) missense possibly damaging 0.95
R7781:BC005537 UTSW 13 24,987,382 (GRCm39) missense possibly damaging 0.95
R7782:BC005537 UTSW 13 24,987,382 (GRCm39) missense possibly damaging 0.95
R7783:BC005537 UTSW 13 24,987,382 (GRCm39) missense possibly damaging 0.95
R7816:BC005537 UTSW 13 24,987,382 (GRCm39) missense possibly damaging 0.95
R7817:BC005537 UTSW 13 24,987,382 (GRCm39) missense possibly damaging 0.95
R7868:BC005537 UTSW 13 24,987,382 (GRCm39) missense possibly damaging 0.95
R7869:BC005537 UTSW 13 24,987,382 (GRCm39) missense possibly damaging 0.95
R8159:BC005537 UTSW 13 24,993,916 (GRCm39) missense probably benign 0.12
R9650:BC005537 UTSW 13 24,986,122 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- AGGTTCTCGGAATACAAGCTCTAAGTGA -3'
(R):5'- CAGGGAGTGATGGGTGCTTCTACA -3'

Sequencing Primer
(F):5'- AGCTCTAAGTGATGACACTAGATAG -3'
(R):5'- ATGGGTGCTTCTACATGCTTTATC -3'
Posted On 2014-01-29