Incidental Mutation 'R6295:Bcl2l14'
ID 508703
Institutional Source Beutler Lab
Gene Symbol Bcl2l14
Ensembl Gene ENSMUSG00000030200
Gene Name BCL2 like 14
Synonyms 9030625M01Rik, 4930452K23Rik, Bcl-G, 4933405K19Rik
MMRRC Submission 044463-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.073) question?
Stock # R6295 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 134373292-134415687 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 134404370 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 186 (V186D)
Ref Sequence ENSEMBL: ENSMUSP00000132525 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032321] [ENSMUST00000111960] [ENSMUST00000127865] [ENSMUST00000163589]
AlphaFold Q9CPT0
Predicted Effect probably benign
Transcript: ENSMUST00000032321
AA Change: V186D

PolyPhen 2 Score 0.395 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000032321
Gene: ENSMUSG00000030200
AA Change: V186D

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: V186D

PolyPhen 2 Score 0.395 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000107591
Gene: ENSMUSG00000030200
AA Change: V186D

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
SMART Domains Protein: ENSMUSP00000115608
Gene: ENSMUSG00000030200

DomainStartEndE-ValueType
low complexity region 8 19 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142612
Predicted Effect probably benign
Transcript: ENSMUST00000163589
AA Change: V186D

PolyPhen 2 Score 0.395 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000132525
Gene: ENSMUSG00000030200
AA Change: V186D

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 98% (49/50)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 A C 12: 118,838,379 (GRCm39) V1061G probably damaging Het
Acap1 A G 11: 69,781,413 (GRCm39) probably null Het
Apbb1 A G 7: 105,215,902 (GRCm39) F112L probably benign Het
Atg9a A G 1: 75,161,702 (GRCm39) S615P probably benign Het
Atp8a2 G A 14: 60,249,848 (GRCm39) R548* probably null Het
Bbof1 A T 12: 84,457,942 (GRCm39) N69I possibly damaging Het
Bmp1 T G 14: 70,728,823 (GRCm39) Y583S possibly damaging Het
Boc A C 16: 44,312,711 (GRCm39) S586R probably benign Het
Btbd9 A T 17: 30,518,710 (GRCm39) probably null Het
Cacna1e T C 1: 154,317,919 (GRCm39) M1180V probably damaging Het
Ciao1 T C 2: 127,088,376 (GRCm39) H149R probably damaging Het
Cops5 T C 1: 10,100,920 (GRCm39) probably benign Het
Doc2b C T 11: 75,671,093 (GRCm39) R209Q probably damaging Het
Doc2b T C 11: 75,686,451 (GRCm39) Y90C probably benign Het
Ep400 A G 5: 110,901,675 (GRCm39) F481L probably benign Het
Fat4 T A 3: 39,061,229 (GRCm39) probably null Het
Fbxw16 T A 9: 109,277,837 (GRCm39) probably benign Het
Fbxw27 T C 9: 109,601,154 (GRCm39) E17G possibly damaging Het
Gm29735 G A 7: 141,710,367 (GRCm39) P162S unknown Het
Gypa T G 8: 81,222,969 (GRCm39) S24R unknown Het
Hdhd5 T C 6: 120,495,485 (GRCm39) N153D probably benign Het
Ibsp C A 5: 104,449,987 (GRCm39) probably null Het
Klhdc3 C T 17: 46,988,972 (GRCm39) V73I probably benign Het
Lrrc37a T C 11: 103,388,459 (GRCm39) E2322G unknown Het
Lrrtm3 T C 10: 63,765,913 (GRCm39) H558R probably benign Het
Mbtd1 C T 11: 93,823,058 (GRCm39) H493Y possibly damaging Het
Mphosph9 A G 5: 124,458,978 (GRCm39) V64A possibly damaging Het
Nthl1 C T 17: 24,857,475 (GRCm39) R251C probably damaging Het
Numa1 G A 7: 101,649,974 (GRCm39) R1235H probably benign Het
Opn1sw T A 6: 29,379,413 (GRCm39) Y197F possibly damaging Het
Or10a3m T C 7: 108,312,845 (GRCm39) V95A probably damaging Het
Pcca A T 14: 122,896,187 (GRCm39) I268F probably benign Het
Per2 A T 1: 91,377,594 (GRCm39) D76E unknown Het
Pfas T C 11: 68,888,825 (GRCm39) N374S probably benign Het
Pomk C A 8: 26,472,955 (GRCm39) V333F probably damaging Het
Ptgfr T C 3: 151,540,926 (GRCm39) E194G probably benign Het
Ptpn14 C T 1: 189,582,997 (GRCm39) P615S probably damaging Het
Pyroxd1 T C 6: 142,300,479 (GRCm39) I203T probably benign Het
Rgs22 T C 15: 36,087,520 (GRCm39) N466S probably benign Het
Rpl3l G A 17: 24,952,966 (GRCm39) V309I probably benign Het
Rtkn2 C T 10: 67,815,529 (GRCm39) probably benign Het
Sec16a C T 2: 26,318,253 (GRCm39) A1613T probably damaging Het
Sis T A 3: 72,874,103 (GRCm39) T33S probably damaging Het
Slc22a4 C A 11: 53,898,634 (GRCm39) V153F possibly damaging Het
Stxbp1 C G 2: 32,684,621 (GRCm39) E603Q probably damaging Het
Tiam2 A G 17: 3,559,831 (GRCm39) S1291G probably damaging Het
Tmem94 T A 11: 115,687,572 (GRCm39) L1144M probably damaging Het
Ttn G A 2: 76,579,673 (GRCm39) T23740M probably damaging Het
Vmn1r201 T C 13: 22,659,533 (GRCm39) V249A probably benign Het
Wdr7 T A 18: 63,888,182 (GRCm39) C552S probably damaging Het
Other mutations in Bcl2l14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01359:Bcl2l14 APN 6 134,400,828 (GRCm39) missense probably damaging 1.00
IGL02451:Bcl2l14 APN 6 134,400,804 (GRCm39) missense probably benign 0.18
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
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
Predicted Primers PCR Primer
(F):5'- GTCCTTTTATCTGAGGCTGGCC -3'
(R):5'- CATCGTGTTGCCTTCAAGTGG -3'

Sequencing Primer
(F):5'- AGGCTGGCCTCTTCATCCTAAAC -3'
(R):5'- GGCTGAGATTCCCAATTTGCAGAG -3'
Posted On 2018-04-02