Incidental Mutation 'R2321:Bhlha15'
ID 245637
Institutional Source Beutler Lab
Gene Symbol Bhlha15
Ensembl Gene ENSMUSG00000052271
Gene Name basic helix-loop-helix family, member a15
Synonyms Bhlhb8, 1810009C13Rik, Mist1
MMRRC Submission 040313-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.157) question?
Stock # R2321 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 144127104-144131259 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 144128014 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 42 (L42P)
Ref Sequence ENSEMBL: ENSMUSP00000055493 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041804] [ENSMUST00000060747] [ENSMUST00000085701]
AlphaFold Q9QYC3
Predicted Effect probably benign
Transcript: ENSMUST00000041804
SMART Domains Protein: ENSMUSP00000048238
Gene: ENSMUSG00000038970

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
transmembrane domain 42 61 N/A INTRINSIC
low complexity region 72 88 N/A INTRINSIC
STYKc 136 406 3.4e-39 SMART
low complexity region 924 953 N/A INTRINSIC
low complexity region 1019 1035 N/A INTRINSIC
low complexity region 1104 1117 N/A INTRINSIC
low complexity region 1168 1180 N/A INTRINSIC
low complexity region 1252 1266 N/A INTRINSIC
low complexity region 1354 1367 N/A INTRINSIC
low complexity region 1380 1392 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000060747
AA Change: L42P

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000055493
Gene: ENSMUSG00000052271
AA Change: L42P

DomainStartEndE-ValueType
low complexity region 6 13 N/A INTRINSIC
low complexity region 41 67 N/A INTRINSIC
HLH 78 130 1.61e-18 SMART
low complexity region 136 148 N/A INTRINSIC
low complexity region 151 166 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000085701
SMART Domains Protein: ENSMUSP00000082844
Gene: ENSMUSG00000066621

DomainStartEndE-ValueType
TECPR 23 59 8.98e1 SMART
DysFN 64 125 6.72e-24 SMART
DysFC 137 170 1.89e-9 SMART
TECPR 192 225 1.79e-1 SMART
TECPR 234 270 2.5e-9 SMART
TECPR 279 317 4.99e-9 SMART
TECPR 326 361 2.42e-7 SMART
low complexity region 381 394 N/A INTRINSIC
PH 614 724 1.69e-2 SMART
TECPR 711 750 1.88e-4 SMART
TECPR 766 800 3.27e-4 SMART
DysFN 821 882 2.95e-20 SMART
DysFC 893 926 1.66e-14 SMART
TECPR 940 974 1.69e1 SMART
TECPR 983 1019 1.45e-5 SMART
TECPR 1028 1065 1.51e-8 SMART
TECPR 1074 1109 1.59e-2 SMART
low complexity region 1125 1137 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125672
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140524
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153103
Meta Mutation Damage Score 0.1118 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.7%
Validation Efficiency 100% (39/39)
MGI Phenotype PHENOTYPE: Mice homozygous for disruptions in this gene have a generally normal phenotype. Abnormalities exist in the acinar cells of various glands and become progressively worse with age. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 C T 6: 128,557,349 (GRCm39) A115T probably benign Het
Abcf2 A T 5: 24,772,251 (GRCm39) Y492* probably null Het
Adcy9 A G 16: 4,106,132 (GRCm39) V994A probably damaging Het
Arhgef40 T C 14: 52,231,733 (GRCm39) probably benign Het
Clca4b C A 3: 144,638,134 (GRCm39) A43S probably benign Het
Cpq A G 15: 33,594,291 (GRCm39) H434R probably benign Het
Crybg2 A G 4: 133,801,822 (GRCm39) E994G probably benign Het
Dcaf1 T C 9: 106,715,672 (GRCm39) L263S probably benign Het
Dnajc12 G T 10: 63,242,990 (GRCm39) probably benign Het
Fbxo32 T C 15: 58,054,689 (GRCm39) I215V possibly damaging Het
Krtap17-1 T C 11: 99,884,746 (GRCm39) D7G unknown Het
Men1 A G 19: 6,389,868 (GRCm39) D466G possibly damaging Het
Myh15 T A 16: 48,933,436 (GRCm39) F624I possibly damaging Het
Ncam1 A C 9: 49,456,132 (GRCm39) probably benign Het
Or2y1d A G 11: 49,322,107 (GRCm39) N268S probably benign Het
Otol1 T A 3: 69,925,858 (GRCm39) L11* probably null Het
Plekhg4 T C 8: 106,104,172 (GRCm39) S447P probably benign Het
Pnma8b G T 7: 16,679,490 (GRCm39) R158L unknown Het
Ppp1r2 A T 16: 31,084,121 (GRCm39) probably null Het
Rad51ap2 G A 12: 11,507,058 (GRCm39) G327R probably damaging Het
Rbm26 T C 14: 105,390,863 (GRCm39) T208A unknown Het
Reln T C 5: 22,120,018 (GRCm39) Y2878C probably damaging Het
Rnps1 T A 17: 24,641,142 (GRCm39) F181I probably damaging Het
Senp6 A C 9: 80,031,022 (GRCm39) I575L possibly damaging Het
Serpinh1 T C 7: 98,995,592 (GRCm39) D330G probably damaging Het
Slamf9 G T 1: 172,304,980 (GRCm39) C198F probably damaging Het
Slc22a13 A T 9: 119,024,694 (GRCm39) V261D possibly damaging Het
Slc26a4 A G 12: 31,590,543 (GRCm39) V370A probably damaging Het
Tasp1 A G 2: 139,899,332 (GRCm39) M7T probably benign Het
Tet2 T C 3: 133,192,100 (GRCm39) N778S possibly damaging Het
Tm9sf4 T A 2: 153,046,506 (GRCm39) Y582N probably damaging Het
Tmem131l T A 3: 83,843,330 (GRCm39) H508L probably damaging Het
Tmem71 T G 15: 66,423,849 (GRCm39) D139A possibly damaging Het
Uroc1 A G 6: 90,324,229 (GRCm39) R418G possibly damaging Het
Wdr64 A C 1: 175,622,653 (GRCm39) K810T possibly damaging Het
Zgrf1 C A 3: 127,356,056 (GRCm39) Y427* probably null Het
Other mutations in Bhlha15
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02379:Bhlha15 APN 5 144,128,159 (GRCm39) missense probably damaging 0.98
R1221:Bhlha15 UTSW 5 144,128,341 (GRCm39) missense probably damaging 1.00
R6873:Bhlha15 UTSW 5 144,128,203 (GRCm39) missense probably benign 0.07
R6880:Bhlha15 UTSW 5 144,128,451 (GRCm39) missense probably damaging 1.00
R7397:Bhlha15 UTSW 5 144,128,223 (GRCm39) missense probably damaging 1.00
R8181:Bhlha15 UTSW 5 144,128,244 (GRCm39) missense probably damaging 1.00
R8262:Bhlha15 UTSW 5 144,128,257 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- TTTCAGTTGGAAGGGCCTCAC -3'
(R):5'- TAGTTCTTGGCCAGCGTGAG -3'

Sequencing Primer
(F):5'- GGCCTCACCCAGCCACC -3'
(R):5'- TGGAGAGCTTCTTGTCAGCCC -3'
Posted On 2014-10-30