Incidental Mutation 'IGL02451:Bcl2l14'
ID 293653
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bcl2l14
Ensembl Gene ENSMUSG00000030200
Gene Name BCL2 like 14
Synonyms 9030625M01Rik, 4930452K23Rik, Bcl-G, 4933405K19Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.073) question?
Stock # IGL02451
Quality Score
Status
Chromosome 6
Chromosomal Location 134373292-134415687 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 134400804 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Valine at position 75 (G75V)
Ref Sequence ENSEMBL: ENSMUSP00000115608 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032321] [ENSMUST00000111960] [ENSMUST00000127865] [ENSMUST00000163589]
AlphaFold Q9CPT0
Predicted Effect probably benign
Transcript: ENSMUST00000032321
AA Change: G75V

PolyPhen 2 Score 0.162 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000032321
Gene: ENSMUSG00000030200
AA Change: G75V

DomainStartEndE-ValueType
low complexity region 8 19 N/A INTRINSIC
SCOP:d1maz__ 200 320 5e-23 SMART
Blast:BCL 217 316 4e-43 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000111960
AA Change: G75V

PolyPhen 2 Score 0.162 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000107591
Gene: ENSMUSG00000030200
AA Change: G75V

DomainStartEndE-ValueType
low complexity region 8 19 N/A INTRINSIC
SCOP:d1maz__ 200 320 5e-23 SMART
Blast:BCL 217 316 4e-43 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000127865
AA Change: G75V

PolyPhen 2 Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000115608
Gene: ENSMUSG00000030200
AA Change: G75V

DomainStartEndE-ValueType
low complexity region 8 19 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142612
Predicted Effect probably benign
Transcript: ENSMUST00000163589
AA Change: G75V

PolyPhen 2 Score 0.162 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000132525
Gene: ENSMUSG00000030200
AA Change: G75V

DomainStartEndE-ValueType
low complexity region 8 19 N/A INTRINSIC
SCOP:d1maz__ 200 320 5e-23 SMART
Blast:BCL 217 316 4e-43 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205104
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the BCL2 protein family. BCL2 family members form hetero- or homodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. Overexpression of this gene has been shown to induce apoptosis in cells. Three alternatively spliced transcript variants encoding two distinct isoforms have been reported for this gene. [provided by RefSeq, May 2009]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700123K08Rik T G 5: 138,561,809 (GRCm39) T126P probably damaging Het
Asic2 T C 11: 80,782,563 (GRCm39) probably benign Het
B430305J03Rik A G 3: 61,271,562 (GRCm39) probably benign Het
Bbs7 A G 3: 36,664,741 (GRCm39) F47L possibly damaging Het
Btnl4 T C 17: 34,694,901 (GRCm39) H4R probably benign Het
Champ1 C A 8: 13,928,739 (GRCm39) P299Q probably damaging Het
Cimap3 T A 3: 105,921,820 (GRCm39) E34D probably benign Het
Cldnd2 A G 7: 43,091,082 (GRCm39) K5E probably benign Het
Ctr9 T A 7: 110,642,631 (GRCm39) L401* probably null Het
Cyp2c29 G A 19: 39,279,291 (GRCm39) G96D possibly damaging Het
Enpp4 A T 17: 44,412,315 (GRCm39) L298H probably damaging Het
Git1 T C 11: 77,391,513 (GRCm39) C222R possibly damaging Het
Gpam T C 19: 55,076,635 (GRCm39) T189A probably damaging Het
Hgfac T G 5: 35,201,158 (GRCm39) probably null Het
Hivep3 T A 4: 119,991,162 (GRCm39) S2221T probably damaging Het
Ifi47 T C 11: 48,986,604 (GRCm39) Y124H probably damaging Het
Il1a T C 2: 129,148,575 (GRCm39) E45G probably damaging Het
Itga11 T A 9: 62,642,635 (GRCm39) I186N probably damaging Het
Krt16 A T 11: 100,137,162 (GRCm39) probably benign Het
Mapk13 A G 17: 28,995,387 (GRCm39) T203A probably damaging Het
Mrpl37 T A 4: 106,923,839 (GRCm39) I52F probably damaging Het
Mtrex C T 13: 113,027,881 (GRCm39) V660M probably damaging Het
Nr1i2 A G 16: 38,069,654 (GRCm39) F417L probably benign Het
Or10ag59 T A 2: 87,405,576 (GRCm39) S49R probably benign Het
Or6c215 G A 10: 129,637,702 (GRCm39) Q231* probably null Het
Osbpl1a T C 18: 13,047,550 (GRCm39) probably benign Het
Parg C T 14: 31,964,186 (GRCm39) T112M probably damaging Het
Pou6f1 T C 15: 100,477,821 (GRCm39) T166A possibly damaging Het
Prtg A G 9: 72,764,281 (GRCm39) I585V possibly damaging Het
Ptpru T G 4: 131,504,086 (GRCm39) probably benign Het
Rab6a T C 7: 100,285,970 (GRCm39) probably null Het
Rnf207 C T 4: 152,396,869 (GRCm39) R425H probably benign Het
Rusf1 A G 7: 127,875,582 (GRCm39) L257P probably damaging Het
Slc27a2 A G 2: 126,420,912 (GRCm39) M468V probably benign Het
Slc30a1 A G 1: 191,639,441 (GRCm39) H108R possibly damaging Het
Sned1 A G 1: 93,163,930 (GRCm39) probably benign Het
Sptbn4 A T 7: 27,065,014 (GRCm39) F2095Y probably null Het
Sspo A T 6: 48,437,237 (GRCm39) probably benign Het
Tbx19 A G 1: 164,967,740 (GRCm39) S336P probably benign Het
Tmem101 T A 11: 102,044,119 (GRCm39) D256V probably damaging Het
Trbv20 T G 6: 41,165,210 (GRCm39) L2V unknown Het
Trpc7 A G 13: 56,970,274 (GRCm39) S382P probably damaging Het
Tut4 C A 4: 108,386,473 (GRCm39) Y1114* probably null Het
Uhmk1 T C 1: 170,040,095 (GRCm39) T91A possibly damaging Het
Vmn2r10 T A 5: 109,143,788 (GRCm39) R721* probably null Het
Vmn2r94 T A 17: 18,478,453 (GRCm39) Y98F possibly damaging Het
Zfp532 A G 18: 65,756,672 (GRCm39) R202G probably damaging Het
Zfp827 T C 8: 79,787,601 (GRCm39) S256P probably damaging Het
Zzef1 T C 11: 72,792,214 (GRCm39) I2266T probably damaging Het
Other mutations in Bcl2l14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01359:Bcl2l14 APN 6 134,400,828 (GRCm39) missense probably damaging 1.00
R1115:Bcl2l14 UTSW 6 134,409,102 (GRCm39) splice site probably benign
R1482:Bcl2l14 UTSW 6 134,404,265 (GRCm39) missense probably damaging 1.00
R1952:Bcl2l14 UTSW 6 134,409,329 (GRCm39) missense probably damaging 1.00
R3932:Bcl2l14 UTSW 6 134,400,771 (GRCm39) missense probably damaging 0.98
R3933:Bcl2l14 UTSW 6 134,400,771 (GRCm39) missense probably damaging 0.98
R5772:Bcl2l14 UTSW 6 134,404,362 (GRCm39) missense probably damaging 0.98
R6295:Bcl2l14 UTSW 6 134,404,370 (GRCm39) missense probably benign 0.40
R7078:Bcl2l14 UTSW 6 134,400,786 (GRCm39) missense probably damaging 0.98
R7496:Bcl2l14 UTSW 6 134,404,417 (GRCm39) missense probably benign 0.00
R7785:Bcl2l14 UTSW 6 134,409,223 (GRCm39) missense possibly damaging 0.96
R7792:Bcl2l14 UTSW 6 134,409,277 (GRCm39) missense possibly damaging 0.84
R7949:Bcl2l14 UTSW 6 134,407,083 (GRCm39) missense probably damaging 1.00
R8474:Bcl2l14 UTSW 6 134,400,720 (GRCm39) missense probably benign 0.07
R8907:Bcl2l14 UTSW 6 134,400,585 (GRCm39) missense probably damaging 1.00
R8990:Bcl2l14 UTSW 6 134,400,630 (GRCm39) missense probably damaging 1.00
X0062:Bcl2l14 UTSW 6 134,404,334 (GRCm39) missense probably benign 0.01
Posted On 2015-04-16