Incidental Mutation 'R6217:Bcl7c'
ID 503780
Institutional Source Beutler Lab
Gene Symbol Bcl7c
Ensembl Gene ENSMUSG00000030814
Gene Name B cell CLL/lymphoma 7C
Synonyms C230096E12Rik
MMRRC Submission 044350-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.112) question?
Stock # R6217 (G1)
Quality Score 99.0078
Status Validated
Chromosome 7
Chromosomal Location 127260626-127307938 bp(-) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) A to T at 127307698 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 1 (M1K)
Ref Sequence ENSEMBL: ENSMUSP00000101889 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047393] [ENSMUST00000061468] [ENSMUST00000106282] [ENSMUST00000205977] [ENSMUST00000207019] [ENSMUST00000206506] [ENSMUST00000206997]
AlphaFold O08664
Predicted Effect probably benign
Transcript: ENSMUST00000047393
SMART Domains Protein: ENSMUSP00000049161
Gene: ENSMUSG00000042340

DomainStartEndE-ValueType
SCOP:d1cnt1_ 21 197 1e-60 SMART
Predicted Effect probably null
Transcript: ENSMUST00000061468
AA Change: M1K

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000057937
Gene: ENSMUSG00000030814
AA Change: M1K

DomainStartEndE-ValueType
Pfam:BCL_N 3 51 3.3e-30 PFAM
low complexity region 56 86 N/A INTRINSIC
low complexity region 166 180 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000103255
Predicted Effect probably null
Transcript: ENSMUST00000106282
AA Change: M1K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000101889
Gene: ENSMUSG00000030814
AA Change: M1K

DomainStartEndE-ValueType
low complexity region 19 33 N/A INTRINSIC
low complexity region 119 130 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144103
Predicted Effect probably benign
Transcript: ENSMUST00000153277
Predicted Effect probably null
Transcript: ENSMUST00000205977
AA Change: M1K

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
Predicted Effect probably null
Transcript: ENSMUST00000207019
AA Change: M1K

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
Predicted Effect probably benign
Transcript: ENSMUST00000206200
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206073
Predicted Effect probably benign
Transcript: ENSMUST00000206506
Predicted Effect probably benign
Transcript: ENSMUST00000206997
Meta Mutation Damage Score 0.9655 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.2%
Validation Efficiency 97% (59/61)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is identified by the similarity of its product to the N-terminal region of BCL7A protein. The BCL7A protein is encoded by the gene known to be directly involved in a three-way gene translocation in a Burkitt lymphoma cell line. The function of this gene has not yet been determined. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abraxas2 G A 7: 132,476,694 (GRCm39) A145T probably damaging Het
Adamts20 T C 15: 94,236,596 (GRCm39) D808G probably benign Het
Ankdd1a C T 9: 65,415,343 (GRCm39) A227T possibly damaging Het
Arsk T A 13: 76,239,935 (GRCm39) Q46L unknown Het
Asnsd1 A G 1: 53,387,187 (GRCm39) F147L probably benign Het
Atp5f1a T A 18: 77,869,056 (GRCm39) S427T probably benign Het
Atp6v1b2 A C 8: 69,562,530 (GRCm39) probably null Het
AU021092 T A 16: 5,030,050 (GRCm39) T322S possibly damaging Het
Cacna1i T C 15: 80,273,333 (GRCm39) V1673A probably damaging Het
Ccdc146 A T 5: 21,522,900 (GRCm39) probably null Het
Cdc7 A G 5: 107,120,660 (GRCm39) D122G probably damaging Het
Cfap46 CCTTCTTCT CCTTCT 7: 139,218,816 (GRCm39) probably benign Het
Chd3 T A 11: 69,236,361 (GRCm39) Q1950L probably damaging Het
Cutc T C 19: 43,748,436 (GRCm39) L111S probably damaging Het
Cyp2j6 A G 4: 96,406,398 (GRCm39) F458L probably damaging Het
Ddhd1 T C 14: 45,856,971 (GRCm39) probably null Het
Dstyk T C 1: 132,387,677 (GRCm39) S804P probably damaging Het
Ech1 A G 7: 28,531,261 (GRCm39) D283G possibly damaging Het
Exosc10 A G 4: 148,666,768 (GRCm39) probably null Het
Fancg A C 4: 43,010,084 (GRCm39) V5G probably benign Het
Fbxo11 A G 17: 88,316,332 (GRCm39) V394A probably benign Het
Fcmr C T 1: 130,806,060 (GRCm39) R339W probably damaging Het
Fhip2b T C 14: 70,829,198 (GRCm39) probably null Het
Fsip2 T A 2: 82,818,762 (GRCm39) L4832M possibly damaging Het
Gab1 A G 8: 81,518,237 (GRCm39) V125A possibly damaging Het
Gabrr1 A T 4: 33,149,026 (GRCm39) probably null Het
Gon4l T C 3: 88,799,968 (GRCm39) V871A possibly damaging Het
Hspg2 A G 4: 137,267,559 (GRCm39) T2056A probably damaging Het
Lrrc3 T A 10: 77,736,843 (GRCm39) T198S probably benign Het
Lsamp A T 16: 41,954,675 (GRCm39) E174V possibly damaging Het
Ltbr C T 6: 125,284,417 (GRCm39) V342M probably damaging Het
Muc16 A T 9: 18,566,742 (GRCm39) S1926T unknown Het
Ntn1 C A 11: 68,104,158 (GRCm39) V497F possibly damaging Het
Or2ag18 A T 7: 106,405,279 (GRCm39) L130Q probably damaging Het
Or5k17 T C 16: 58,746,877 (GRCm39) D19G probably benign Het
Or8g22 A T 9: 38,958,039 (GRCm39) *270R probably null Het
Osmr T C 15: 6,853,047 (GRCm39) Y615C probably damaging Het
Pcdhgb2 T C 18: 37,823,054 (GRCm39) V15A possibly damaging Het
Pkd2l2 A G 18: 34,547,733 (GRCm39) N162S probably benign Het
Ppp1r12a G A 10: 108,076,045 (GRCm39) probably null Het
Prss59 G A 6: 40,903,019 (GRCm39) P118S possibly damaging Het
Prtg C T 9: 72,812,076 (GRCm39) P899S probably damaging Het
Ptprn A T 1: 75,224,810 (GRCm39) S912R probably damaging Het
Rex2 A G 4: 147,141,931 (GRCm39) T140A possibly damaging Het
Ryr2 T G 13: 11,848,964 (GRCm39) D339A probably damaging Het
Sf3b1 C T 1: 55,046,677 (GRCm39) R289H probably damaging Het
Slc17a9 A G 2: 180,379,455 (GRCm39) D309G probably benign Het
Slc4a10 A G 2: 62,134,295 (GRCm39) R1004G probably benign Het
Sprr2f A T 3: 92,273,366 (GRCm39) Q55L unknown Het
Syne1 C T 10: 5,243,761 (GRCm39) G2801D probably benign Het
Tenm3 A T 8: 48,746,700 (GRCm39) V1026D probably damaging Het
Ticam1 A T 17: 56,577,730 (GRCm39) I455N probably damaging Het
Tmem161b A G 13: 84,399,363 (GRCm39) I6M possibly damaging Het
Ubn1 A G 16: 4,895,096 (GRCm39) E714G probably damaging Het
Ush2a T G 1: 188,475,651 (GRCm39) probably null Het
Usp19 G A 9: 108,377,343 (GRCm39) V874M probably damaging Het
Vmn2r106 T C 17: 20,488,501 (GRCm39) T633A probably benign Het
Vmn2r75 A T 7: 85,815,375 (GRCm39) probably benign Het
Zfyve27 T C 19: 42,178,016 (GRCm39) V386A probably damaging Het
Zscan20 A T 4: 128,498,327 (GRCm39) W24R probably damaging Het
Other mutations in Bcl7c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01322:Bcl7c APN 7 127,306,608 (GRCm39) missense probably damaging 1.00
R0189:Bcl7c UTSW 7 127,304,936 (GRCm39) missense probably damaging 1.00
R0345:Bcl7c UTSW 7 127,307,635 (GRCm39) missense possibly damaging 0.95
R0940:Bcl7c UTSW 7 127,306,503 (GRCm39) missense possibly damaging 0.74
R3905:Bcl7c UTSW 7 127,266,155 (GRCm39) missense possibly damaging 0.53
R9023:Bcl7c UTSW 7 127,306,504 (GRCm39) missense probably benign 0.25
R9149:Bcl7c UTSW 7 127,307,695 (GRCm39) missense probably damaging 1.00
R9190:Bcl7c UTSW 7 127,266,200 (GRCm39) missense probably benign 0.06
R9253:Bcl7c UTSW 7 127,306,403 (GRCm39) intron probably benign
Predicted Primers PCR Primer
(F):5'- TGTCGATTCAGAGCACAGC -3'
(R):5'- ACAGAGCATTTCAGGGACG -3'

Sequencing Primer
(F):5'- GCTTGGCTGTATCCCTG -3'
(R):5'- ACCAGGACAGTCCCTCTCG -3'
Posted On 2018-02-27