Incidental Mutation 'R0711:BC005537'
ID 62756
Institutional Source Beutler Lab
Gene Symbol BC005537
Ensembl Gene ENSMUSG00000019132
Gene Name cDNA sequence BC005537
Synonyms 8030460C05Rik
MMRRC Submission 038894-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.209) question?
Stock # R0711 (G1)
Quality Score 84
Status Validated
Chromosome 13
Chromosomal Location 24985640-24996882 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 24989923 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 129 (F129L)
Ref Sequence ENSEMBL: ENSMUSP00000019276 (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: F129L

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000019276
Gene: ENSMUSG00000019132
AA Change: F129L

DomainStartEndE-ValueType
Pfam:DUF4566 1 226 5.9e-142 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000155575
AA Change: F100L

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000123652
Gene: ENSMUSG00000019132
AA Change: F100L

DomainStartEndE-ValueType
Pfam:DUF4566 10 167 1.6e-102 PFAM
Meta Mutation Damage Score 0.7551 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 91.4%
Validation Efficiency 100% (91/91)
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik T A 3: 137,773,986 (GRCm39) D1058E probably damaging Het
4933405L10Rik A T 8: 106,435,563 (GRCm39) probably null Het
Adamtsl3 T A 7: 82,114,907 (GRCm39) probably benign Het
Afdn C T 17: 14,072,698 (GRCm39) P874S probably damaging Het
Ankrd6 G A 4: 32,815,326 (GRCm39) A391V probably damaging Het
Arhgef28 T G 13: 98,067,762 (GRCm39) T1388P probably damaging Het
Asxl3 G T 18: 22,657,508 (GRCm39) M1839I probably benign Het
Celf2 A G 2: 6,726,226 (GRCm39) probably null Het
Chid1 C T 7: 141,076,590 (GRCm39) V325I probably benign Het
Cnn3 T A 3: 121,243,633 (GRCm39) D31E probably benign Het
Col12a1 G A 9: 79,559,317 (GRCm39) P1857L probably damaging Het
Cpeb1 T A 7: 81,001,618 (GRCm39) R430W probably benign Het
Daw1 T C 1: 83,169,059 (GRCm39) probably benign Het
Dcaf13 A G 15: 39,001,484 (GRCm39) Y264C probably damaging Het
Dnah6 T C 6: 73,064,585 (GRCm39) I2666V probably damaging Het
Dnai2 A C 11: 114,645,158 (GRCm39) D531A probably benign Het
Dock10 A T 1: 80,501,692 (GRCm39) F1833I probably damaging Het
Efhd2 C T 4: 141,587,183 (GRCm39) A200T probably damaging Het
Epb41l5 T A 1: 119,551,641 (GRCm39) probably benign Het
Ermp1 A G 19: 29,608,788 (GRCm39) Y164H possibly damaging Het
Gkn2 T C 6: 87,350,401 (GRCm39) probably benign Het
Golgb1 A T 16: 36,739,152 (GRCm39) Q2497L probably damaging Het
Gzme A T 14: 56,355,196 (GRCm39) M245K probably damaging Het
Iars2 A T 1: 185,054,585 (GRCm39) probably benign Het
Icosl T A 10: 77,909,775 (GRCm39) V240D probably damaging Het
Igsf3 T C 3: 101,334,709 (GRCm39) M262T probably benign Het
Ing3 G T 6: 21,971,236 (GRCm39) E336* probably null Het
Kat2a A T 11: 100,597,297 (GRCm39) V625E probably damaging Het
Ksr1 A G 11: 78,929,073 (GRCm39) probably benign Het
Lypd8 A T 11: 58,277,583 (GRCm39) M122L probably benign Het
Mdfi A T 17: 48,143,855 (GRCm39) probably benign Het
Med13 A G 11: 86,192,179 (GRCm39) probably benign Het
Msh6 C T 17: 88,294,112 (GRCm39) R956C probably damaging Het
Myo15b A G 11: 115,774,664 (GRCm39) E670G probably damaging Het
Myo1d A G 11: 80,375,158 (GRCm39) L972P probably damaging Het
Or4s2b A G 2: 88,509,018 (GRCm39) D266G probably damaging Het
Or51ai2 G A 7: 103,587,024 (GRCm39) A146T probably benign Het
Or7g12 T A 9: 18,899,447 (GRCm39) N54K probably benign Het
Pde8b C G 13: 95,244,325 (GRCm39) S143T possibly damaging Het
Pias4 G T 10: 80,993,364 (GRCm39) probably benign Het
Prkca A G 11: 107,872,480 (GRCm39) Y427H probably benign Het
Psg25 G A 7: 18,263,485 (GRCm39) Q113* probably null Het
Rab3gap2 T A 1: 184,982,123 (GRCm39) S392T probably damaging Het
Scrib A G 15: 75,938,756 (GRCm39) probably benign Het
Sdk2 A G 11: 113,793,970 (GRCm39) probably benign Het
Serpinb1c T A 13: 33,070,266 (GRCm39) probably benign Het
Serpinb9f T A 13: 33,511,904 (GRCm39) W136R probably damaging Het
Skic3 C T 13: 76,331,010 (GRCm39) P1480L probably damaging Het
Skint10 C A 4: 112,573,102 (GRCm39) probably benign Het
Slc25a13 T C 6: 6,117,128 (GRCm39) T196A probably damaging Het
Slc26a5 T C 5: 22,052,230 (GRCm39) H33R probably damaging Het
Slc27a6 T C 18: 58,731,829 (GRCm39) probably benign Het
Slitrk6 A T 14: 110,987,251 (GRCm39) Y819N probably damaging Het
Spata46 C T 1: 170,139,603 (GRCm39) Q201* probably null Het
Sptbn1 A T 11: 30,064,739 (GRCm39) V1920E probably damaging Het
Taf6l A G 19: 8,755,881 (GRCm39) F256L probably benign Het
Tmco3 T A 8: 13,342,039 (GRCm39) N104K probably damaging Het
Tmem200c A G 17: 69,149,249 (GRCm39) T611A probably damaging Het
Tmem202 T G 9: 59,432,655 (GRCm39) Y24S probably damaging Het
Tpp1 A G 7: 105,398,626 (GRCm39) L230P probably damaging Het
Trim56 C T 5: 137,141,846 (GRCm39) E557K probably benign Het
Trrap C T 5: 144,790,309 (GRCm39) L3590F probably damaging Het
Tulp4 A G 17: 6,189,387 (GRCm39) T70A possibly damaging Het
Vcp G C 4: 42,986,201 (GRCm39) A297G probably benign Het
Vwf T A 6: 125,603,234 (GRCm39) H861Q probably benign Het
Wdr64 T C 1: 175,599,751 (GRCm39) I536T probably benign Het
Zfp850 T C 7: 27,689,698 (GRCm39) N170S probably benign Het
Zfp87 G A 13: 74,524,544 (GRCm39) 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
R1288:BC005537 UTSW 13 24,988,883 (GRCm39) missense probably damaging 1.00
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'- GCTAATGCACGACTCTAGTTGAGCC -3'
(R):5'- TCTGTGACTGAGTGACTGCCTCTG -3'

Sequencing Primer
(F):5'- CTAGTTGAGCCATGTTTTTGTACC -3'
(R):5'- ggaggttcaaggtcaccag -3'
Posted On 2013-07-30