Incidental Mutation 'R6332:BC048679'
ID 513171
Institutional Source Beutler Lab
Gene Symbol BC048679
Ensembl Gene ENSMUSG00000061877
Gene Name cDNA sequence BC048679
Synonyms
MMRRC Submission 044486-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.052) question?
Stock # R6332 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 81144023-81148029 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 81144966 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 126 (V126M)
Ref Sequence ENSEMBL: ENSMUSP00000147131 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073406] [ENSMUST00000082090] [ENSMUST00000144156] [ENSMUST00000152355] [ENSMUST00000207871]
AlphaFold D3YXE9
Predicted Effect silent
Transcript: ENSMUST00000073406
SMART Domains Protein: ENSMUSP00000073114
Gene: ENSMUSG00000061877

DomainStartEndE-ValueType
Pfam:NLPC_P60 3 101 6.4e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000082090
SMART Domains Protein: ENSMUSP00000080739
Gene: ENSMUSG00000062444

DomainStartEndE-ValueType
Pfam:Adaptin_N 34 590 8.2e-182 PFAM
low complexity region 689 782 N/A INTRINSIC
AP3B1_C 801 947 4.58e-75 SMART
Blast:B2 971 1080 2e-12 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000119121
SMART Domains Protein: ENSMUSP00000114032
Gene: ENSMUSG00000062444

DomainStartEndE-ValueType
Pfam:Adaptin_N 34 122 5.6e-32 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000144156
AA Change: V132M

PolyPhen 2 Score 0.374 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000120616
Gene: ENSMUSG00000061877
AA Change: V132M

DomainStartEndE-ValueType
low complexity region 108 123 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000152355
Predicted Effect probably benign
Transcript: ENSMUST00000207871
AA Change: V126M

PolyPhen 2 Score 0.374 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208911
Meta Mutation Damage Score 0.0846 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.2%
Validation Efficiency 99% (67/68)
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933421I07Rik C A 7: 42,095,667 (GRCm39) G194C possibly damaging Het
Adamtsl1 A G 4: 86,135,248 (GRCm39) K258E probably damaging Het
Afdn A T 17: 14,030,707 (GRCm39) D206V possibly damaging Het
Agt G T 8: 125,284,572 (GRCm39) Q389K possibly damaging Het
Ankrd44 A T 1: 54,801,432 (GRCm39) D298E probably damaging Het
Anks1 A G 17: 28,271,709 (GRCm39) S897G probably benign Het
Apol9b A G 15: 77,619,746 (GRCm39) probably null Het
Baz1a T C 12: 54,965,339 (GRCm39) E705G probably benign Het
Cep295 A G 9: 15,246,210 (GRCm39) F749L possibly damaging Het
Cntrl T A 2: 35,018,036 (GRCm39) I482K possibly damaging Het
Col6a3 A G 1: 90,749,955 (GRCm39) F293S probably damaging Het
Dnah12 T G 14: 26,439,129 (GRCm39) M527R probably damaging Het
Dnhd1 G A 7: 105,343,273 (GRCm39) R1539H probably benign Het
Ece1 A G 4: 137,685,319 (GRCm39) Y603C probably damaging Het
Eea1 G A 10: 95,877,335 (GRCm39) A1350T possibly damaging Het
Exoc3l4 A T 12: 111,394,402 (GRCm39) K507N possibly damaging Het
Flt3l A T 7: 44,783,091 (GRCm39) probably null Het
Fn1 T C 1: 71,667,230 (GRCm39) Q834R probably benign Het
Haus5 C T 7: 30,358,401 (GRCm39) W298* probably null Het
Hycc2 T A 1: 58,569,034 (GRCm39) Y515F probably damaging Het
Ifih1 T C 2: 62,469,827 (GRCm39) N157D possibly damaging Het
Itga2 A C 13: 114,980,009 (GRCm39) M1064R probably benign Het
Itgae A G 11: 73,002,228 (GRCm39) probably null Het
Krtap10-4 T C 10: 77,662,883 (GRCm39) probably benign Het
Lamp3 A G 16: 19,518,431 (GRCm39) C269R probably damaging Het
Lrp5 T C 19: 3,709,355 (GRCm39) D125G probably damaging Het
Matn2 A C 15: 34,423,901 (GRCm39) E586D probably benign Het
Mef2b T A 8: 70,616,789 (GRCm39) probably null Het
Mrps22 A G 9: 98,483,524 (GRCm39) probably null Het
Mtmr2 T C 9: 13,711,325 (GRCm39) F445L probably damaging Het
Nxph4 A G 10: 127,362,237 (GRCm39) V218A probably damaging Het
Or1e23 A G 11: 73,408,001 (GRCm39) V8A probably benign Het
Or4f57 C T 2: 111,791,091 (GRCm39) G109D probably damaging Het
Or51k1 A G 7: 103,660,980 (GRCm39) S310P probably benign Het
Pdpk1 A T 17: 24,325,896 (GRCm39) V100D probably damaging Het
Phldb2 A C 16: 45,594,609 (GRCm39) S899A probably benign Het
Pnpla3 G A 15: 84,056,983 (GRCm39) probably null Het
Rasal2 A G 1: 157,126,757 (GRCm39) Y94H probably damaging Het
Rlf A T 4: 121,006,019 (GRCm39) I987N possibly damaging Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Rprd2 A G 3: 95,687,753 (GRCm39) Y300H probably damaging Het
Setbp1 G A 18: 78,826,584 (GRCm39) S1343L probably benign Het
Sfswap A G 5: 129,648,105 (GRCm39) K938E possibly damaging Het
Shld2 A G 14: 33,990,129 (GRCm39) V259A probably benign Het
Slc3a1 A C 17: 85,335,860 (GRCm39) M1L probably damaging Het
Slco5a1 C T 1: 12,991,409 (GRCm39) V427I probably benign Het
Ssbp2 A T 13: 91,839,027 (GRCm39) M300L probably benign Het
Ssc5d A G 7: 4,940,521 (GRCm39) D878G probably damaging Het
Stk19 A G 17: 35,043,574 (GRCm39) L212P probably damaging Het
Stk39 T C 2: 68,240,387 (GRCm39) M115V possibly damaging Het
Syt17 A C 7: 118,033,466 (GRCm39) S181A probably benign Het
Taar7b A T 10: 23,875,849 (GRCm39) N5Y probably benign Het
Tmc4 A G 7: 3,680,421 (GRCm39) probably null Het
Tmem248 T A 5: 130,258,310 (GRCm39) M1K probably null Het
Tmem82 T A 4: 141,343,721 (GRCm39) Q183L probably damaging Het
Tpd52l1 T C 10: 31,214,203 (GRCm39) E142G probably damaging Het
Ttll2 A T 17: 7,619,167 (GRCm39) H253Q probably damaging Het
Ttn T C 2: 76,687,808 (GRCm39) probably benign Het
Ubd A G 17: 37,506,392 (GRCm39) K93E probably benign Het
Ugt2b35 T A 5: 87,149,415 (GRCm39) F222Y probably damaging Het
Vmn2r10 G T 5: 109,151,328 (GRCm39) N95K probably damaging Het
Vwa8 T C 14: 79,434,904 (GRCm39) V1775A probably benign Het
Zdbf2 A G 1: 63,346,981 (GRCm39) K1787E possibly damaging Het
Zfp26 A T 9: 20,348,582 (GRCm39) F661I probably damaging Het
Zfp735 A T 11: 73,602,504 (GRCm39) K483* probably null Het
Zfp946 A G 17: 22,673,519 (GRCm39) E91G probably damaging Het
Zic5 C A 14: 122,697,161 (GRCm39) D485Y unknown Het
Zmynd8 A T 2: 165,680,772 (GRCm39) D236E probably damaging Het
Other mutations in BC048679
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02811:BC048679 APN 7 81,144,937 (GRCm39) unclassified probably benign
R0427:BC048679 UTSW 7 81,144,993 (GRCm39) missense probably benign 0.02
R1262:BC048679 UTSW 7 81,145,089 (GRCm39) missense probably benign
R4860:BC048679 UTSW 7 81,145,468 (GRCm39) missense probably benign 0.03
R4860:BC048679 UTSW 7 81,145,468 (GRCm39) missense probably benign 0.03
R5242:BC048679 UTSW 7 81,145,091 (GRCm39) missense probably damaging 0.97
R5972:BC048679 UTSW 7 81,145,479 (GRCm39) missense probably damaging 1.00
R6050:BC048679 UTSW 7 81,145,339 (GRCm39) missense possibly damaging 0.46
R6804:BC048679 UTSW 7 81,146,612 (GRCm39) missense possibly damaging 0.90
R8509:BC048679 UTSW 7 81,145,116 (GRCm39) missense probably benign 0.01
R9197:BC048679 UTSW 7 81,144,966 (GRCm39) missense probably benign 0.37
Predicted Primers PCR Primer
(F):5'- AAAGGAACCTGGTCTGGGTG -3'
(R):5'- TGATTTTGGGCCTGCTATCC -3'

Sequencing Primer
(F):5'- GGAATCATCTGAATTATGCTGGAGC -3'
(R):5'- TGCTATCCCCACAGGCAG -3'
Posted On 2018-04-27