Incidental Mutation 'R7270:Bik'
ID 565257
Institutional Source Beutler Lab
Gene Symbol Bik
Ensembl Gene ENSMUSG00000016758
Gene Name BCL2-interacting killer
Synonyms Nbk, Blk, Biklk
MMRRC Submission 045390-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7270 (G1)
Quality Score 218.009
Status Not validated
Chromosome 15
Chromosomal Location 83411063-83428835 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 83428364 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 131 (F131I)
Ref Sequence ENSEMBL: ENSMUSP00000016902 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016902] [ENSMUST00000061882] [ENSMUST00000229165] [ENSMUST00000229724] [ENSMUST00000229964] [ENSMUST00000230912]
AlphaFold O70337
Predicted Effect possibly damaging
Transcript: ENSMUST00000016902
AA Change: F131I

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000016902
Gene: ENSMUSG00000016758
AA Change: F131I

DomainStartEndE-ValueType
Pfam:bcl-2I13 1 149 1.5e-72 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000061882
SMART Domains Protein: ENSMUSP00000051569
Gene: ENSMUSG00000048755

DomainStartEndE-ValueType
low complexity region 2 24 N/A INTRINSIC
Pfam:Acyl_transf_1 62 342 5.8e-25 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000229165
AA Change: F131I

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
Predicted Effect probably benign
Transcript: ENSMUST00000229724
Predicted Effect possibly damaging
Transcript: ENSMUST00000229964
AA Change: F87I

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
Predicted Effect probably benign
Transcript: ENSMUST00000230851
Predicted Effect possibly damaging
Transcript: ENSMUST00000230912
AA Change: F131I

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
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 shares a critical BH3 domain with other death-promoting proteins, such as BID, BAK, BAD and BAX, that is required for its pro-apoptotic activity, and for interaction with anti-apoptotic members of the BCL2 family, and viral survival-promoting proteins. Since the activity of this protein is suppressed in the presence of survival-promoting proteins, it is suggested as a likely target for anti-apoptotic proteins. [provided by RefSeq, Sep 2011]
PHENOTYPE: Mice homozygous for a knock-out allele are viable and grossly normal with no detectable changes in hematopoiesis, lymphocyte susceptibility to various apoptotic stimuli, or endothelial cell apoptosis in hyaloid vessel regression. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afg1l A T 10: 42,301,245 (GRCm39) Y193N probably damaging Het
Ahnak2 A T 12: 112,780,802 (GRCm38) V70E Het
Aimp1 T C 3: 132,382,772 (GRCm39) K44E probably damaging Het
Arid1b T A 17: 5,046,318 (GRCm39) Y369N unknown Het
Art5 A T 7: 101,747,080 (GRCm39) V233D probably damaging Het
Baz2b T A 2: 59,792,836 (GRCm39) N431Y possibly damaging Het
Bmpr1a A G 14: 34,163,082 (GRCm39) Y103H probably damaging Het
Cabp7 C T 11: 4,696,676 (GRCm39) V18M possibly damaging Het
Cacna1a C A 8: 85,297,866 (GRCm39) T1240N probably damaging Het
Cacna1h A G 17: 25,603,739 (GRCm39) V1311A probably damaging Het
Cbarp A C 10: 79,973,151 (GRCm39) S16A possibly damaging Het
Ccng2 C G 5: 93,421,202 (GRCm39) S237R probably benign Het
Ces2b A T 8: 105,564,472 (GRCm39) H494L possibly damaging Het
Cfap43 T A 19: 47,728,224 (GRCm39) H1511L possibly damaging Het
Cfap54 A G 10: 92,675,320 (GRCm39) V2867A probably benign Het
Col5a1 C T 2: 27,887,597 (GRCm39) P956L unknown Het
Dcakd T G 11: 102,891,032 (GRCm39) Q19P possibly damaging Het
Ddx47 T A 6: 135,000,301 (GRCm39) D432E probably benign Het
Dhrs7b T C 11: 60,735,055 (GRCm39) F29L probably benign Het
Dis3l2 A T 1: 86,918,025 (GRCm39) D558V possibly damaging Het
Dtx3l T A 16: 35,754,027 (GRCm39) D193V probably damaging Het
Eif1ad12 T C 12: 87,541,663 (GRCm39) L58P probably damaging Het
Epha4 G A 1: 77,376,422 (GRCm39) R486C probably damaging Het
Fam186a T C 15: 99,842,033 (GRCm39) T1404A possibly damaging Het
Fat1 A G 8: 45,490,475 (GRCm39) T3796A probably damaging Het
Ffar2 A T 7: 30,518,929 (GRCm39) W204R probably benign Het
Ftmt A G 18: 52,465,091 (GRCm39) I136V probably benign Het
Gm10300 T C 4: 131,802,167 (GRCm39) W54R unknown Het
Gm10518 C T 1: 179,630,949 (GRCm39) P3L unknown Het
Grm2 G A 9: 106,528,257 (GRCm39) T209M probably damaging Het
Gtdc1 C T 2: 44,525,322 (GRCm39) M176I probably benign Het
Insrr T C 3: 87,710,440 (GRCm39) L382P probably damaging Het
Jade2 A G 11: 51,708,011 (GRCm39) V734A possibly damaging Het
Kcnh4 C T 11: 100,638,472 (GRCm39) R586H probably benign Het
Kdm1a A T 4: 136,279,838 (GRCm39) D721E probably damaging Het
Knl1 G A 2: 118,933,003 (GRCm39) C2054Y possibly damaging Het
Lrrk2 C T 15: 91,584,644 (GRCm39) P354S probably benign Het
Luzp2 A G 7: 54,724,774 (GRCm39) I112V probably damaging Het
Mgl2 T C 11: 70,026,506 (GRCm39) S105P probably damaging Het
Mocs1 T A 17: 49,756,143 (GRCm39) M200K possibly damaging Het
Oat T A 7: 132,168,927 (GRCm39) I98L probably benign Het
Obscn T C 11: 58,920,312 (GRCm39) Y8C Het
Or5b108 G A 19: 13,168,768 (GRCm39) V246I possibly damaging Het
Or6c1b T G 10: 129,273,319 (GRCm39) F213V probably benign Het
Pde1b T A 15: 103,430,082 (GRCm39) M137K possibly damaging Het
Phf21a T C 2: 92,157,484 (GRCm39) I204T probably damaging Het
Plcd4 A G 1: 74,593,838 (GRCm39) E321G possibly damaging Het
Plpp7 C T 2: 31,985,662 (GRCm39) probably benign Het
Prdm1 A G 10: 44,317,566 (GRCm39) I419T probably benign Het
Sec16b A T 1: 157,392,032 (GRCm39) R855W probably damaging Het
Sec16b G T 1: 157,392,033 (GRCm39) R855M probably damaging Het
Sec31b T C 19: 44,511,482 (GRCm39) T640A probably benign Het
Siglec1 T C 2: 130,923,471 (GRCm39) T425A possibly damaging Het
Sirpd A T 3: 15,385,704 (GRCm39) I66N probably benign Het
Skil T C 3: 31,151,324 (GRCm39) probably benign Het
Slc1a5 G A 7: 16,519,623 (GRCm39) V200M probably damaging Het
Slc25a12 T C 2: 71,154,369 (GRCm39) H139R probably benign Het
Slc25a32 A T 15: 38,961,630 (GRCm39) V187D probably damaging Het
Slc35a3 G A 3: 116,505,455 (GRCm39) probably benign Het
Smap2 C A 4: 120,829,264 (GRCm39) M328I probably benign Het
Spef2 C T 15: 9,600,066 (GRCm39) probably null Het
Srarp A G 4: 141,160,389 (GRCm39) V148A possibly damaging Het
Stard9 T A 2: 120,464,755 (GRCm39) Y73* probably null Het
Tars1 A G 15: 11,392,105 (GRCm39) C236R probably benign Het
Tchh G C 3: 93,351,837 (GRCm39) D426H unknown Het
Tnks2 T C 19: 36,836,545 (GRCm39) F17S Het
Ube2g1 T C 11: 72,553,939 (GRCm39) I30T possibly damaging Het
Ube2o C T 11: 116,434,761 (GRCm39) D567N possibly damaging Het
Unc5b A T 10: 60,608,002 (GRCm39) Y710* probably null Het
Vmn1r215 T C 13: 23,260,089 (GRCm39) V43A possibly damaging Het
Xkr8 A G 4: 132,455,648 (GRCm39) F242L probably benign Het
Zfp526 T A 7: 24,925,345 (GRCm39) C535S probably damaging Het
Other mutations in Bik
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2165:Bik UTSW 15 83,425,624 (GRCm39) missense probably benign 0.00
R4568:Bik UTSW 15 83,425,645 (GRCm39) critical splice donor site probably null
R5482:Bik UTSW 15 83,428,335 (GRCm39) missense probably damaging 1.00
R6830:Bik UTSW 15 83,428,409 (GRCm39) missense probably benign
R7746:Bik UTSW 15 83,425,535 (GRCm39) missense possibly damaging 0.60
R9749:Bik UTSW 15 83,425,540 (GRCm39) missense possibly damaging 0.78
Predicted Primers PCR Primer
(F):5'- GCTTGAATGCCCAAGTTCAC -3'
(R):5'- TGAGGTACAGTGAATTCATTTGCC -3'

Sequencing Primer
(F):5'- TGAATGCCCAAGTTCACACTGTATC -3'
(R):5'- CTGTATGAAATCTCAGCACTATCCTG -3'
Posted On 2019-06-26