Incidental Mutation 'R2697:BC024139'
ID 476697
Institutional Source Beutler Lab
Gene Symbol BC024139
Ensembl Gene ENSMUSG00000044361
Gene Name cDNA sequence BC024139
Synonyms 6230424I18Rik
MMRRC Submission 040435-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.050) question?
Stock # R2697 (G1)
Quality Score 152
Status Not validated
Chromosome 15
Chromosomal Location 76003717-76010756 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) TCCACCACCACCACCACCAC to TCCACCACCACCACCAC at 76004393 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000154609 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054022] [ENSMUST00000089654] [ENSMUST00000146157] [ENSMUST00000226781]
AlphaFold Q8BVJ3
Predicted Effect probably benign
Transcript: ENSMUST00000054022
SMART Domains Protein: ENSMUSP00000053305
Gene: ENSMUSG00000044361

DomainStartEndE-ValueType
low complexity region 61 79 N/A INTRINSIC
SPEC 91 177 8.82e-1 SMART
SPEC 184 283 2.74e-2 SMART
coiled coil region 314 337 N/A INTRINSIC
low complexity region 469 485 N/A INTRINSIC
Pfam:GAS2 672 701 3.9e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000089654
SMART Domains Protein: ENSMUSP00000087082
Gene: ENSMUSG00000044361

DomainStartEndE-ValueType
low complexity region 61 79 N/A INTRINSIC
SPEC 91 177 8.82e-1 SMART
SPEC 184 283 2.74e-2 SMART
coiled coil region 314 337 N/A INTRINSIC
low complexity region 469 485 N/A INTRINSIC
Pfam:GAS2 671 703 3.1e-12 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126892
Predicted Effect probably benign
Transcript: ENSMUST00000146157
SMART Domains Protein: ENSMUSP00000117783
Gene: ENSMUSG00000044361

DomainStartEndE-ValueType
low complexity region 61 79 N/A INTRINSIC
SPEC 91 177 8.82e-1 SMART
SPEC 184 283 2.74e-2 SMART
coiled coil region 314 337 N/A INTRINSIC
low complexity region 469 485 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226663
Predicted Effect probably benign
Transcript: ENSMUST00000226781
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A630073D07Rik T C 6: 132,603,619 (GRCm39) S46G unknown Het
Acaca T A 11: 84,255,239 (GRCm39) D1932E probably damaging Het
Adam7 A T 14: 68,752,232 (GRCm39) C417* probably null Het
Adgrl4 A C 3: 151,216,260 (GRCm39) Q481P probably damaging Het
Adra2c C A 5: 35,438,042 (GRCm39) N271K probably benign Het
Ahctf1 T C 1: 179,580,097 (GRCm39) K2035R probably damaging Het
Ano3 T C 2: 110,625,305 (GRCm39) T182A possibly damaging Het
Armc3 T C 2: 19,308,746 (GRCm39) Y805H probably damaging Het
Cabp7 C T 11: 4,688,837 (GRCm39) R211H probably damaging Het
Ccdc117 T C 11: 5,484,888 (GRCm39) N112S possibly damaging Het
Cep120 C T 18: 53,873,197 (GRCm39) D45N probably benign Het
Cpsf1 T C 15: 76,483,529 (GRCm39) Y872C probably damaging Het
Cradd A G 10: 95,011,807 (GRCm39) L111P probably damaging Het
Crhr2 A G 6: 55,079,815 (GRCm39) L155P probably damaging Het
Fgd2 A T 17: 29,595,895 (GRCm39) T518S probably damaging Het
Gpam C T 19: 55,071,641 (GRCm39) E367K probably damaging Het
Gtf3c1 T A 7: 125,243,126 (GRCm39) N1826I probably damaging Het
Kcnq5 T C 1: 21,549,656 (GRCm39) E357G probably damaging Het
Krt1 T A 15: 101,755,364 (GRCm39) D465V probably damaging Het
Lcor T A 19: 41,572,466 (GRCm39) V407E probably benign Het
Macrod1 T C 19: 7,174,157 (GRCm39) V221A probably damaging Het
Mbd1 T C 18: 74,406,688 (GRCm39) S144P possibly damaging Het
Mtfmt T C 9: 65,359,303 (GRCm39) V326A probably benign Het
Myo1b T C 1: 51,902,517 (GRCm39) D71G probably benign Het
Myo1h A G 5: 114,493,274 (GRCm39) Y705C probably damaging Het
Nudt9 T C 5: 104,212,859 (GRCm39) W311R probably damaging Het
Or11g27 C T 14: 50,771,238 (GRCm39) A123V probably damaging Het
Or2a57 A T 6: 43,213,060 (GRCm39) I173F probably damaging Het
Or2h15 A G 17: 38,441,900 (GRCm39) F61S probably damaging Het
Or6c65 G A 10: 129,603,793 (GRCm39) V143I probably benign Het
Osbp2 A T 11: 3,813,407 (GRCm39) L154Q probably benign Het
P3h1 A G 4: 119,104,377 (GRCm39) T633A probably damaging Het
Polq T G 16: 36,862,515 (GRCm39) L616R probably damaging Het
Pon3 A G 6: 5,232,429 (GRCm39) L197S possibly damaging Het
Rap1gds1 C T 3: 138,689,482 (GRCm39) probably null Het
Rbp3 C T 14: 33,677,975 (GRCm39) T641M probably damaging Het
Rfng C A 11: 120,674,865 (GRCm39) probably benign Het
Rps6ka2 T G 17: 7,567,721 (GRCm39) L728R probably benign Het
Slc41a3 C A 6: 90,619,302 (GRCm39) N360K possibly damaging Het
Sult1e1 T C 5: 87,726,397 (GRCm39) N239S probably damaging Het
Tacr1 T A 6: 82,469,578 (GRCm39) I154N probably damaging Het
Tacstd2 T A 6: 67,512,203 (GRCm39) H163L probably benign Het
Tent5a T C 9: 85,206,793 (GRCm39) D335G possibly damaging Het
Tiam1 T C 16: 89,590,052 (GRCm39) S1382G probably benign Het
Tmem43 A G 6: 91,456,911 (GRCm39) E164G possibly damaging Het
U2af2 G A 7: 5,070,545 (GRCm39) R78H probably benign Het
Yipf7 T A 5: 69,698,483 (GRCm39) D8V possibly damaging Het
Zfp58 G A 13: 67,639,124 (GRCm39) H456Y probably damaging Het
Zfp799 G A 17: 33,039,214 (GRCm39) R351* probably null Het
Zfyve9 T C 4: 108,553,016 (GRCm39) D715G probably damaging Het
Other mutations in BC024139
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00433:BC024139 APN 15 76,009,300 (GRCm39) missense probably benign 0.06
IGL01684:BC024139 APN 15 76,008,885 (GRCm39) missense probably damaging 1.00
IGL01780:BC024139 APN 15 76,005,343 (GRCm39) missense probably benign 0.01
IGL03084:BC024139 APN 15 76,004,007 (GRCm39) missense probably benign 0.00
IGL03242:BC024139 APN 15 76,004,520 (GRCm39) missense probably benign 0.32
IGL03386:BC024139 APN 15 76,005,945 (GRCm39) missense probably benign 0.18
R0018:BC024139 UTSW 15 76,005,087 (GRCm39) nonsense probably null
R0018:BC024139 UTSW 15 76,005,087 (GRCm39) nonsense probably null
R0153:BC024139 UTSW 15 76,005,947 (GRCm39) missense probably damaging 0.96
R0789:BC024139 UTSW 15 76,005,283 (GRCm39) missense possibly damaging 0.51
R1158:BC024139 UTSW 15 76,004,542 (GRCm39) unclassified probably benign
R1515:BC024139 UTSW 15 76,008,526 (GRCm39) missense possibly damaging 0.83
R1840:BC024139 UTSW 15 76,004,842 (GRCm39) missense probably benign
R1845:BC024139 UTSW 15 76,009,461 (GRCm39) nonsense probably null
R2159:BC024139 UTSW 15 76,005,688 (GRCm39) missense probably damaging 0.96
R2264:BC024139 UTSW 15 76,010,117 (GRCm39) missense probably damaging 1.00
R2680:BC024139 UTSW 15 76,005,939 (GRCm39) missense probably damaging 0.98
R4113:BC024139 UTSW 15 76,005,827 (GRCm39) missense probably benign 0.35
R4630:BC024139 UTSW 15 76,009,294 (GRCm39) missense probably benign 0.23
R4825:BC024139 UTSW 15 76,004,517 (GRCm39) missense possibly damaging 0.84
R4865:BC024139 UTSW 15 76,010,266 (GRCm39) missense possibly damaging 0.56
R5208:BC024139 UTSW 15 76,008,865 (GRCm39) missense probably benign 0.03
R5369:BC024139 UTSW 15 76,004,422 (GRCm39) missense probably benign 0.02
R5371:BC024139 UTSW 15 76,004,886 (GRCm39) makesense probably null
R5897:BC024139 UTSW 15 76,010,339 (GRCm39) missense possibly damaging 0.84
R6110:BC024139 UTSW 15 76,003,996 (GRCm39) missense probably benign
R6374:BC024139 UTSW 15 76,004,657 (GRCm39) critical splice donor site probably null
R6823:BC024139 UTSW 15 76,003,946 (GRCm39) makesense probably null
R6915:BC024139 UTSW 15 76,004,221 (GRCm39) missense probably benign
R7075:BC024139 UTSW 15 76,008,599 (GRCm39) missense probably benign 0.06
R7669:BC024139 UTSW 15 76,004,768 (GRCm39) missense possibly damaging 0.93
R8340:BC024139 UTSW 15 76,005,670 (GRCm39) missense probably benign 0.03
R8355:BC024139 UTSW 15 76,004,007 (GRCm39) missense probably benign 0.00
R8455:BC024139 UTSW 15 76,004,007 (GRCm39) missense probably benign 0.00
R8481:BC024139 UTSW 15 76,004,882 (GRCm39) missense probably damaging 0.99
R8507:BC024139 UTSW 15 76,004,333 (GRCm39) missense possibly damaging 0.53
R8804:BC024139 UTSW 15 76,008,284 (GRCm39) missense possibly damaging 0.92
R8876:BC024139 UTSW 15 76,010,320 (GRCm39) missense possibly damaging 0.86
R9213:BC024139 UTSW 15 76,009,422 (GRCm39) missense probably benign 0.00
R9542:BC024139 UTSW 15 76,009,715 (GRCm39) missense probably damaging 0.99
R9555:BC024139 UTSW 15 76,005,359 (GRCm39) missense possibly damaging 0.68
X0066:BC024139 UTSW 15 76,008,202 (GRCm39) missense probably benign
Predicted Primers
Posted On 2017-05-15