Incidental Mutation 'R0345:Bcl7c'
ID 192619
Institutional Source Beutler Lab
Gene Symbol Bcl7c
Ensembl Gene ENSMUSG00000030814
Gene Name B cell CLL/lymphoma 7C
Synonyms C230096E12Rik
MMRRC Submission 038552-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.144) question?
Stock # R0345 (G1)
Quality Score 40
Status Validated
Chromosome 7
Chromosomal Location 127260626-127307938 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 127307635 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 22 (M22K)
Ref Sequence ENSEMBL: ENSMUSP00000145743 (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 possibly damaging
Transcript: ENSMUST00000061468
AA Change: M22K

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000057937
Gene: ENSMUSG00000030814
AA Change: M22K

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 possibly damaging
Transcript: ENSMUST00000106282
AA Change: M22K

PolyPhen 2 Score 0.729 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000101889
Gene: ENSMUSG00000030814
AA Change: M22K

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 possibly damaging
Transcript: ENSMUST00000205977
AA Change: M22K

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
Predicted Effect possibly damaging
Transcript: ENSMUST00000207019
AA Change: M22K

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206073
Predicted Effect probably benign
Transcript: ENSMUST00000206200
Predicted Effect probably benign
Transcript: ENSMUST00000206506
Predicted Effect probably benign
Transcript: ENSMUST00000206997
Meta Mutation Damage Score 0.4561 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 94.1%
Validation Efficiency 100% (58/58)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700129C05Rik T C 14: 59,377,079 (GRCm39) N105D possibly damaging Het
A2m T C 6: 121,615,231 (GRCm39) probably benign Het
Adgrb1 A G 15: 74,415,198 (GRCm39) N641S probably damaging Het
Aff4 T A 11: 53,263,708 (GRCm39) S243T probably benign Het
Agap2 A G 10: 126,923,764 (GRCm39) H713R unknown Het
Ap2a2 T A 7: 141,211,206 (GRCm39) M914K probably damaging Het
Cacna1i A T 15: 80,256,663 (GRCm39) D1019V probably damaging Het
Cd7 T C 11: 120,929,012 (GRCm39) T80A probably benign Het
Chia1 T C 3: 106,029,755 (GRCm39) Y130H probably damaging Het
Chmp6 T C 11: 119,808,872 (GRCm39) probably benign Het
Chrnb4 A G 9: 54,942,878 (GRCm39) V132A probably benign Het
Ctnna3 A G 10: 63,402,619 (GRCm39) D110G probably benign Het
Cyp2d37-ps A T 15: 82,573,975 (GRCm39) noncoding transcript Het
Dnah6 T C 6: 72,998,240 (GRCm39) M4061V probably benign Het
Dydc2 C A 14: 40,783,903 (GRCm39) M73I probably benign Het
Egflam G T 15: 7,319,475 (GRCm39) probably null Het
Fam228b C T 12: 4,798,351 (GRCm39) V151I possibly damaging Het
Fanca C T 8: 124,031,552 (GRCm39) V380I probably damaging Het
Gbp2b T C 3: 142,313,944 (GRCm39) L408S probably damaging Het
Kcnh4 T C 11: 100,648,507 (GRCm39) S66G probably benign Het
Kcnq3 A T 15: 65,892,154 (GRCm39) V407D possibly damaging Het
Kif24 A T 4: 41,428,413 (GRCm39) D182E probably benign Het
Llgl2 A G 11: 115,740,818 (GRCm39) probably benign Het
Lmo7 T A 14: 102,114,313 (GRCm39) N140K probably damaging Het
Myo5c A G 9: 75,204,701 (GRCm39) E1518G probably damaging Het
Myof A T 19: 38,012,793 (GRCm39) N47K probably damaging Het
Nckap1 G T 2: 80,375,321 (GRCm39) probably benign Het
Nlrp1a C A 11: 71,014,501 (GRCm39) G250W probably damaging Het
Nol4l T A 2: 153,253,672 (GRCm39) S390C probably benign Het
Or2ag2b T C 7: 106,417,908 (GRCm39) F206S probably benign Het
Or52e18 T A 7: 104,609,388 (GRCm39) M184L probably damaging Het
Or5ak22 T C 2: 85,230,685 (GRCm39) Q64R possibly damaging Het
Or5h26 G A 16: 58,988,269 (GRCm39) P79L possibly damaging Het
Plec G T 15: 76,061,367 (GRCm39) P2886T probably damaging Het
Prdm16 T C 4: 154,425,568 (GRCm39) Y738C probably benign Het
Ptprz1 A G 6: 23,016,164 (GRCm39) Y820C probably damaging Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Sgce G A 6: 4,718,019 (GRCm39) P98S probably damaging Het
Siglecf T C 7: 43,001,368 (GRCm39) F112S probably damaging Het
Slc6a16 C T 7: 44,908,672 (GRCm39) A84V possibly damaging Het
Sntb2 T C 8: 107,728,170 (GRCm39) S373P probably damaging Het
Sorcs2 C T 5: 36,185,218 (GRCm39) V953I probably benign Het
Spata31f1a T C 4: 42,851,116 (GRCm39) I347V probably benign Het
St7l T C 3: 104,803,125 (GRCm39) probably benign Het
Stap2 A G 17: 56,307,097 (GRCm39) V217A probably damaging Het
Stxbp5l A T 16: 37,108,670 (GRCm39) D215E probably damaging Het
Synm C T 7: 67,385,569 (GRCm39) V256I probably benign Het
Syt13 A C 2: 92,776,412 (GRCm39) E233A possibly damaging Het
Tecta T A 9: 42,295,514 (GRCm39) E327V probably damaging Het
Tent5b A T 4: 133,213,522 (GRCm39) Q131L probably benign Het
Themis3 A T 17: 66,866,540 (GRCm39) probably null Het
Ttll13 T A 7: 79,897,084 (GRCm39) D14E probably benign Het
Tubb2a A C 13: 34,260,620 (GRCm39) D26E probably benign Het
Ubr1 T C 2: 120,734,584 (GRCm39) probably null Het
Vps13d A T 4: 144,844,195 (GRCm39) V2537E possibly damaging Het
Zscan10 T A 17: 23,829,056 (GRCm39) F456I probably damaging Het
Zyg11b A G 4: 108,123,604 (GRCm39) I121T 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
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
R6217:Bcl7c UTSW 7 127,307,698 (GRCm39) start codon destroyed probably null 1.00
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'- ACGCTTTGTAGACCTCTGGGAATTG -3'
(R):5'- GGCAGCGTAGAATCAAACAGCCTG -3'

Sequencing Primer
(F):5'- TCTGGGAATTGCCGGGG -3'
(R):5'- ACCAGGACAGTCCCTCTCG -3'
Posted On 2014-05-16