Incidental Mutation 'R0375:BC049715'
ID30688
Institutional Source Beutler Lab
Gene Symbol BC049715
Ensembl Gene ENSMUSG00000047515
Gene NamecDNA sequence BC049715
Synonyms
MMRRC Submission 038581-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R0375 (G1)
Quality Score225
Status Validated
Chromosome6
Chromosomal Location136827626-136840662 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 136839996 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Leucine at position 78 (H78L)
Ref Sequence ENSEMBL: ENSMUSP00000145015 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052702] [ENSMUST00000068293] [ENSMUST00000111894] [ENSMUST00000163640] [ENSMUST00000203468] [ENSMUST00000203499] [ENSMUST00000204086]
Predicted Effect probably benign
Transcript: ENSMUST00000052702
AA Change: H78L

PolyPhen 2 Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000049512
Gene: ENSMUSG00000047515
AA Change: H78L

DomainStartEndE-ValueType
Pfam:DUF4533 8 235 1.3e-64 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000068293
SMART Domains Protein: ENSMUSP00000066235
Gene: ENSMUSG00000043298

DomainStartEndE-ValueType
Pfam:DUF4533 14 221 1.9e-83 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111894
SMART Domains Protein: ENSMUSP00000107525
Gene: ENSMUSG00000043298

DomainStartEndE-ValueType
Pfam:DUF4533 14 221 2.4e-65 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000163640
AA Change: H78L

PolyPhen 2 Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000133266
Gene: ENSMUSG00000047515
AA Change: H78L

DomainStartEndE-ValueType
Pfam:DUF4533 8 235 1.6e-97 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000203468
SMART Domains Protein: ENSMUSP00000144838
Gene: ENSMUSG00000043298

DomainStartEndE-ValueType
Pfam:DUF4533 14 221 2.4e-65 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000203499
AA Change: H78L

PolyPhen 2 Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000145015
Gene: ENSMUSG00000047515
AA Change: H78L

DomainStartEndE-ValueType
Pfam:DUF4533 8 235 1.6e-97 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000204086
Meta Mutation Damage Score 0.1032 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.3%
  • 10x: 96.2%
  • 20x: 92.7%
Validation Efficiency 100% (61/61)
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik C T 3: 37,046,252 T4707I probably damaging Het
5730522E02Rik T A 11: 25,769,092 Y17F unknown Het
Aars2 A G 17: 45,514,550 D313G probably damaging Het
Abca9 A T 11: 110,115,447 D1277E probably benign Het
Adgrl1 G T 8: 83,934,901 A981S probably damaging Het
Aff3 T G 1: 38,204,940 K917Q possibly damaging Het
Cacna1g C A 11: 94,411,054 A2027S possibly damaging Het
Camk1g G A 1: 193,356,401 probably benign Het
Carf T C 1: 60,144,002 V386A probably damaging Het
Cd46 A G 1: 195,086,164 S82P probably benign Het
Clic5 A G 17: 44,270,623 E180G possibly damaging Het
Col27a1 A G 4: 63,225,661 T529A probably benign Het
Col7a1 C T 9: 108,980,237 R2627C unknown Het
Cuzd1 G A 7: 131,311,908 probably benign Het
Cwc27 T C 13: 104,807,823 D50G possibly damaging Het
Dhx38 A G 8: 109,555,181 V735A possibly damaging Het
Dhx57 T G 17: 80,258,121 E834A probably damaging Het
Dsg4 A G 18: 20,470,879 D801G probably damaging Het
Dtx1 T C 5: 120,681,399 E578G probably damaging Het
F830016B08Rik A T 18: 60,300,193 H116L probably damaging Het
Fam208b A G 13: 3,596,842 V61A possibly damaging Het
Fbxw18 T C 9: 109,688,839 I360V possibly damaging Het
Fignl2 G A 15: 101,054,093 P103S probably benign Het
Frmpd1 A G 4: 45,284,196 T1006A probably benign Het
Ggnbp2 G T 11: 84,836,374 C545* probably null Het
Gm3336 A G 8: 70,718,645 probably benign Het
Gpr37 T C 6: 25,669,291 N518S probably benign Het
Hbs1l T A 10: 21,342,541 D312E possibly damaging Het
Hoxd10 C A 2: 74,692,720 S247R probably benign Het
Ifnb1 A T 4: 88,522,744 F11I probably benign Het
Marf1 T C 16: 14,151,320 probably benign Het
Myo1f T A 17: 33,601,956 V879E probably benign Het
Naip1 A G 13: 100,409,148 F1291L probably benign Het
Nckap1l A G 15: 103,474,159 E529G probably damaging Het
Npm3 T C 19: 45,748,229 E157G probably damaging Het
Olfr1200 T A 2: 88,767,641 T225S possibly damaging Het
Olfr1240 G T 2: 89,439,396 N294K probably benign Het
Olfr248 A G 1: 174,391,209 T47A probably damaging Het
Pex16 G A 2: 92,380,457 G312D probably damaging Het
Ppp6r1 A G 7: 4,633,287 V768A probably benign Het
Prrc1 A G 18: 57,362,492 T14A probably damaging Het
Ranbp2 T C 10: 58,477,283 L1275P probably damaging Het
Rnf214 C A 9: 45,899,823 V181F probably damaging Het
Ror2 T C 13: 53,132,004 N58S probably damaging Het
Selplg G A 5: 113,820,008 T79I probably damaging Het
Setd1b G A 5: 123,157,437 G1023S unknown Het
Sf3b2 C T 19: 5,274,824 D845N probably damaging Het
Skint5 A G 4: 113,705,596 V803A unknown Het
Slc25a46 T C 18: 31,583,266 I394M possibly damaging Het
Snrnp27 A T 6: 86,680,953 I101K possibly damaging Het
Spag17 C A 3: 100,027,590 T704K probably benign Het
Tas2r144 T A 6: 42,216,124 M266K possibly damaging Het
Tbc1d31 T A 15: 57,955,350 L783H probably benign Het
Tbck C A 3: 132,751,232 probably benign Het
Vcan A G 13: 89,691,275 V2050A probably damaging Het
Vmn1r70 T A 7: 10,634,060 N158K probably damaging Het
Vmn2r103 T A 17: 19,792,859 Y81N probably benign Het
Vmn2r103 A G 17: 19,793,464 T173A probably benign Het
Ylpm1 T G 12: 85,014,980 S552A unknown Het
Zdhhc17 A T 10: 110,982,106 Y58* probably null Het
Other mutations in BC049715
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00954:BC049715 APN 6 136840095 missense possibly damaging 0.80
IGL01834:BC049715 APN 6 136840491 missense probably benign 0.26
R0330:BC049715 UTSW 6 136840037 missense possibly damaging 0.95
R0419:BC049715 UTSW 6 136840145 missense possibly damaging 0.71
R1437:BC049715 UTSW 6 136840092 missense probably damaging 0.99
R1734:BC049715 UTSW 6 136840308 missense probably damaging 1.00
R1737:BC049715 UTSW 6 136840308 missense probably damaging 1.00
R1738:BC049715 UTSW 6 136840308 missense probably damaging 1.00
R2264:BC049715 UTSW 6 136840436 nonsense probably null
R3004:BC049715 UTSW 6 136839792 missense possibly damaging 0.80
R3937:BC049715 UTSW 6 136840455 missense possibly damaging 0.93
R3938:BC049715 UTSW 6 136840455 missense possibly damaging 0.93
R4459:BC049715 UTSW 6 136840052 missense probably damaging 0.99
R4806:BC049715 UTSW 6 136839929 missense possibly damaging 0.93
R5086:BC049715 UTSW 6 136840431 missense probably damaging 1.00
R6280:BC049715 UTSW 6 136840231 nonsense probably null
R7383:BC049715 UTSW 6 136840455 missense probably damaging 0.98
R7554:BC049715 UTSW 6 136840297 missense probably damaging 0.99
R8055:BC049715 UTSW 6 136839915 missense possibly damaging 0.95
Predicted Primers PCR Primer
(F):5'- TGGCAGACAGTCAGGAGCGTTTAC -3'
(R):5'- ACCCATGATGGGGAACTGCATCAG -3'

Sequencing Primer
(F):5'- GACAGTCAGGAGCGTTTACTATCC -3'
(R):5'- GGGAACTGCATCAGGAGTG -3'
Posted On2013-04-24