Incidental Mutation 'R2972:BC048507'
ID255255
Institutional Source Beutler Lab
Gene Symbol BC048507
Ensembl Gene ENSMUSG00000064063
Gene NamecDNA sequence BC048507
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.300) question?
Stock #R2972 (G1)
Quality Score225
Status Not validated
Chromosome13
Chromosomal Location67863326-67863925 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 67863630 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 42 (I42T)
Ref Sequence ENSEMBL: ENSMUSP00000077564 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078471]
Predicted Effect probably benign
Transcript: ENSMUST00000078471
AA Change: I42T

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000077564
Gene: ENSMUSG00000064063
AA Change: I42T

DomainStartEndE-ValueType
Dynein_light 1 88 1.05e-56 SMART
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Card9 C T 2: 26,357,210 R309H probably damaging Het
Clec14a T A 12: 58,267,574 R421W probably damaging Het
Crnkl1 A G 2: 145,932,261 L94P probably benign Het
D930007J09Rik C T 13: 32,802,759 probably benign Het
Dhrs7c T A 11: 67,815,871 I285N possibly damaging Het
Golga2 A G 2: 32,305,659 N752S probably benign Het
Klrb1-ps1 A G 6: 129,119,756 noncoding transcript Het
Nin G A 12: 70,062,713 R151C probably damaging Het
Nsun6 A C 2: 15,038,072 probably null Het
Nyap2 C T 1: 81,191,770 R81* probably null Het
Olfr1241 G T 2: 89,482,776 R120S possibly damaging Het
Olfr354 G A 2: 36,907,404 V153M probably benign Het
Pkhd1l1 T A 15: 44,547,248 M2717K possibly damaging Het
Ralgapa1 T C 12: 55,820,755 K5E possibly damaging Het
Rnf130 T A 11: 50,093,800 L309* probably null Het
Rsf1 ATGGCG ATGGCGACGGTGGCG 7: 97,579,904 probably benign Het
Rxrg G A 1: 167,639,146 R422H probably damaging Het
Serpinb9e T A 13: 33,255,143 V184E probably benign Het
Slc10a5 A T 3: 10,334,457 I381N probably damaging Het
Slit1 G A 19: 41,611,016 P1032L probably benign Het
Sptlc3 A G 2: 139,589,661 T368A probably damaging Het
Ubr4 T C 4: 139,406,536 Y748H probably benign Het
Ugt8a T C 3: 125,915,308 H51R probably benign Het
Vmn2r117 A G 17: 23,459,856 V798A probably damaging Het
Vmn2r77 T C 7: 86,803,685 Y537H probably benign Het
Other mutations in BC048507
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2252:BC048507 UTSW 13 67863507 start codon destroyed probably null 0.97
R2973:BC048507 UTSW 13 67863630 missense probably benign 0.03
R2974:BC048507 UTSW 13 67863630 missense probably benign 0.03
R5463:BC048507 UTSW 13 67863698 missense probably damaging 1.00
R6075:BC048507 UTSW 13 67863704 missense probably benign 0.07
R6798:BC048507 UTSW 13 67863564 missense probably benign 0.29
R7053:BC048507 UTSW 13 67863653 missense probably benign 0.06
Predicted Primers PCR Primer
(F):5'- ATTTAGCTAAGAGATGCGCCAC -3'
(R):5'- TTAGGATGCAGTCAGTCCACG -3'

Sequencing Primer
(F):5'- TTCGGCTTCAGCAGGGAC -3'
(R):5'- CCACGCTTTTACCCAGATTTGAAGAG -3'
Posted On2014-12-29