Incidental Mutation 'R5972:BC048679'
ID 471470
Institutional Source Beutler Lab
Gene Symbol BC048679
Ensembl Gene ENSMUSG00000061877
Gene Name cDNA sequence BC048679
Synonyms
MMRRC Submission 044155-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.052) question?
Stock # R5972 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 81144023-81148029 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 81145479 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 29 (L29P)
Ref Sequence ENSEMBL: ENSMUSP00000073114 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073406] [ENSMUST00000082090] [ENSMUST00000144156] [ENSMUST00000152355] [ENSMUST00000207871]
AlphaFold D3YXE9
Predicted Effect probably damaging
Transcript: ENSMUST00000073406
AA Change: L29P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000073114
Gene: ENSMUSG00000061877
AA Change: L29P

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 damaging
Transcript: ENSMUST00000144156
AA Change: L29P

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000120616
Gene: ENSMUSG00000061877
AA Change: L29P

DomainStartEndE-ValueType
low complexity region 108 123 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000152355
Predicted Effect possibly damaging
Transcript: ENSMUST00000207871
AA Change: L23P

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208911
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 93.9%
Validation Efficiency 100% (51/51)
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg2 T A 6: 58,649,070 (GRCm39) M305K probably benign Het
Accs G T 2: 93,669,572 (GRCm39) H283N probably damaging Het
Actl6b A T 5: 137,564,818 (GRCm39) H283L possibly damaging Het
Adgra1 T C 7: 139,425,583 (GRCm39) L32P probably damaging Het
Afg3l2 G T 18: 67,554,329 (GRCm39) L458M probably damaging Het
Arfgef2 T C 2: 166,733,756 (GRCm39) I1672T probably damaging Het
Bambi T A 18: 3,512,354 (GRCm39) V246E probably damaging Het
Bmal2 A G 6: 146,711,187 (GRCm39) M64V probably damaging Het
Camk4 T C 18: 33,240,979 (GRCm39) L92P probably damaging Het
Ddx11 C A 17: 66,455,085 (GRCm39) Q655K probably benign Het
Ddx52 A G 11: 83,844,051 (GRCm39) probably null Het
Entrep3 T A 3: 89,093,115 (GRCm39) V213D probably damaging Het
Eps8l3 T C 3: 107,791,763 (GRCm39) probably null Het
Erap1 T A 13: 74,810,423 (GRCm39) probably null Het
Flg T A 3: 93,186,849 (GRCm39) N100K probably benign Het
Grip2 A T 6: 91,784,262 (GRCm39) V13E probably benign Het
Iars1 T C 13: 49,863,108 (GRCm39) V520A possibly damaging Het
Impa1 A G 3: 10,394,064 (GRCm39) M1T probably null Het
Ip6k3 T C 17: 27,368,934 (GRCm39) T179A possibly damaging Het
Krt87 T A 15: 101,385,467 (GRCm39) M302L probably benign Het
Lrp8 T C 4: 107,726,267 (GRCm39) Y899H probably damaging Het
Lrpprc A T 17: 85,020,250 (GRCm39) I1145N possibly damaging Het
Mapk11 A T 15: 89,028,387 (GRCm39) D324E probably benign Het
Melk C T 4: 44,351,007 (GRCm39) T516I probably benign Het
Mia2 C T 12: 59,193,723 (GRCm39) H130Y probably damaging Het
Mroh5 C T 15: 73,662,568 (GRCm39) probably null Het
Ncam1 T C 9: 49,418,829 (GRCm39) T824A possibly damaging Het
Neurog1 T C 13: 56,399,211 (GRCm39) S179G probably damaging Het
Ntrk2 T A 13: 58,985,633 (GRCm39) L79Q probably damaging Het
Patj T A 4: 98,457,290 (GRCm39) M46K probably damaging Het
Pdcd6ip T C 9: 113,491,366 (GRCm39) K626E probably benign Het
Pdss2 T A 10: 43,174,922 (GRCm39) Y143N probably damaging Het
Pkhd1l1 G A 15: 44,408,812 (GRCm39) S2433N probably damaging Het
Plekha5 A G 6: 140,518,639 (GRCm39) T309A possibly damaging Het
Prdm4 C T 10: 85,743,365 (GRCm39) V297M probably damaging Het
Rab15 T C 12: 76,847,377 (GRCm39) Y148C probably damaging Het
Ryr3 A T 2: 112,664,409 (GRCm39) N1627K probably damaging Het
Scn1a G T 2: 66,181,454 (GRCm39) A23E possibly damaging Het
Smtn A T 11: 3,483,486 (GRCm39) I30N probably damaging Het
Sympk A G 7: 18,780,749 (GRCm39) K751E probably benign Het
Usp24 C T 4: 106,225,264 (GRCm39) P632L probably damaging Het
Vmn2r106 A G 17: 20,498,738 (GRCm39) I391T probably benign Het
Vmn2r54 G A 7: 12,349,279 (GRCm39) P768S probably damaging Het
Vmn2r54 C T 7: 12,369,874 (GRCm39) C63Y probably damaging Het
Zfhx3 T G 8: 109,677,483 (GRCm39) C2844W possibly 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
R6050:BC048679 UTSW 7 81,145,339 (GRCm39) missense possibly damaging 0.46
R6332:BC048679 UTSW 7 81,144,966 (GRCm39) missense probably benign 0.37
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'- GAGTGGCCAAATTTCTTTTGCTC -3'
(R):5'- ATCCGTGATATCCAGGCCTC -3'

Sequencing Primer
(F):5'- GCTCACCCTCAAAGTGTATGATC -3'
(R):5'- AGGCCTCTGGAGTCCCTCAAG -3'
Posted On 2017-03-31