Incidental Mutation 'R0940:Bcl7c'
ID 81410
Institutional Source Beutler Lab
Gene Symbol Bcl7c
Ensembl Gene ENSMUSG00000030814
Gene Name B cell CLL/lymphoma 7C
Synonyms C230096E12Rik
MMRRC Submission 039079-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.112) question?
Stock # R0940 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 127260626-127307938 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 127306503 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 96 (N96I)
Ref Sequence ENSEMBL: ENSMUSP00000145743 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061468] [ENSMUST00000106282] [ENSMUST00000205977] [ENSMUST00000207019]
AlphaFold O08664
Predicted Effect possibly damaging
Transcript: ENSMUST00000061468
AA Change: N96I

PolyPhen 2 Score 0.737 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000057937
Gene: ENSMUSG00000030814
AA Change: N96I

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 benign
Transcript: ENSMUST00000106282
SMART Domains Protein: ENSMUSP00000101889
Gene: ENSMUSG00000030814

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: N96I

PolyPhen 2 Score 0.737 (Sensitivity: 0.85; Specificity: 0.92)
Predicted Effect unknown
Transcript: ENSMUST00000206200
AA Change: T48S
Predicted Effect probably benign
Transcript: ENSMUST00000207019
Meta Mutation Damage Score 0.2444 question?
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 99.1%
  • 10x: 98.0%
  • 20x: 96.7%
Validation Efficiency 100% (68/68)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810064F22Rik C T 9: 22,119,367 (GRCm39) noncoding transcript Het
2610021A01Rik T G 7: 41,275,858 (GRCm39) I520M probably damaging Het
Ackr4 A G 9: 103,976,831 (GRCm39) F39L probably damaging Het
Adgre5 C T 8: 84,460,126 (GRCm39) S92N probably damaging Het
Adrb2 T C 18: 62,312,762 (GRCm39) D21G probably benign Het
Akr1c6 G A 13: 4,486,372 (GRCm39) E60K probably benign Het
Brca1 A T 11: 101,422,969 (GRCm39) S106R possibly damaging Het
C6 A T 15: 4,764,717 (GRCm39) T138S probably benign Het
Cul3 T C 1: 80,300,564 (GRCm39) probably benign Het
Dnah8 T A 17: 31,022,217 (GRCm39) M3939K probably damaging Het
Dock4 T A 12: 40,681,626 (GRCm39) probably benign Het
Dsc2 T G 18: 20,183,116 (GRCm39) T101P probably damaging Het
Dynlt1b T C 17: 6,697,649 (GRCm39) probably benign Het
E330013P04Rik A G 19: 60,150,354 (GRCm39) noncoding transcript Het
Fggy A G 4: 95,585,238 (GRCm39) E39G probably benign Het
Fhip1a A G 3: 85,572,797 (GRCm39) V952A possibly damaging Het
Fmo6 A T 1: 162,753,795 (GRCm39) C116S probably benign Het
Gadd45a A G 6: 67,013,813 (GRCm39) I44T possibly damaging Het
Gmps A G 3: 63,883,743 (GRCm39) probably benign Het
Gnmt A G 17: 47,037,271 (GRCm39) L171P probably damaging Het
Hnrnpm G A 17: 33,868,976 (GRCm39) R523C probably damaging Het
Inpp5a T C 7: 139,105,654 (GRCm39) Y202H probably damaging Het
Kank3 C T 17: 34,036,450 (GRCm39) S106F probably damaging Het
Lmcd1 A G 6: 112,305,658 (GRCm39) D253G probably benign Het
Lrrk2 A T 15: 91,613,284 (GRCm39) I803F possibly damaging Het
Mybpc2 T C 7: 44,156,311 (GRCm39) K834R probably benign Het
Mycbp2 A T 14: 103,500,129 (GRCm39) probably benign Het
Myh4 A T 11: 67,133,689 (GRCm39) N243Y probably damaging Het
Myorg A G 4: 41,497,996 (GRCm39) Y545H probably damaging Het
Nfatc1 C T 18: 80,679,110 (GRCm39) M759I probably benign Het
Nipal4 A G 11: 46,041,139 (GRCm39) I352T possibly damaging Het
Nomo1 A G 7: 45,683,329 (GRCm39) E25G possibly damaging Het
Or10j27 A G 1: 172,958,020 (GRCm39) S255P probably benign Het
Or13a19 T C 7: 139,903,065 (GRCm39) I151T probably benign Het
Or14j7 A G 17: 38,234,591 (GRCm39) I45V probably damaging Het
Or1e32 T C 11: 73,705,050 (GRCm39) N286S probably damaging Het
Or4c116 T A 2: 88,942,419 (GRCm39) I146L probably benign Het
Or5p66 T C 7: 107,886,264 (GRCm39) D23G probably benign Het
Pabpn1l A G 8: 123,349,183 (GRCm39) V78A probably benign Het
Pde6b T A 5: 108,568,203 (GRCm39) I327N possibly damaging Het
Phrf1 T C 7: 140,834,768 (GRCm39) probably benign Het
Pkm C T 9: 59,575,818 (GRCm39) probably benign Het
Plxna2 G A 1: 194,482,863 (GRCm39) V1519I probably benign Het
Ppp2cb T C 8: 34,105,689 (GRCm39) probably null Het
Prickle2 A G 6: 92,387,984 (GRCm39) Y473H probably benign Het
Prpf3 A G 3: 95,751,535 (GRCm39) W389R probably damaging Het
Psme4 G A 11: 30,765,264 (GRCm39) E544K possibly damaging Het
Relb A T 7: 19,345,767 (GRCm39) D395E probably damaging Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Rnf213 A G 11: 119,307,389 (GRCm39) N683S probably benign Het
Rtel1 T C 2: 180,964,596 (GRCm39) C102R probably benign Het
Sel1l3 C T 5: 53,301,379 (GRCm39) probably benign Het
Slc8a2 A G 7: 15,878,887 (GRCm39) T458A probably benign Het
Smc3 T A 19: 53,629,340 (GRCm39) M931K probably benign Het
Sorbs2 T C 8: 46,249,539 (GRCm39) V795A probably benign Het
Tgm3 A G 2: 129,854,326 (GRCm39) S2G probably benign Het
Tpbpa T C 13: 61,087,867 (GRCm39) T75A probably damaging Het
Trub1 A G 19: 57,473,495 (GRCm39) probably benign Het
Uggt2 A G 14: 119,328,604 (GRCm39) probably null Het
Ugt2a3 A G 5: 87,475,065 (GRCm39) V393A possibly damaging Het
Vav3 T A 3: 109,470,151 (GRCm39) M532K possibly damaging Het
Zfp616 A T 11: 73,975,850 (GRCm39) K706N probably damaging Het
Zkscan1 T C 5: 138,091,432 (GRCm39) F55S 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
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'- TGCTCCCTACAGATCTAAGAAGCCG -3'
(R):5'- ACAACCTGATGCAGCACCTTTCG -3'

Sequencing Primer
(F):5'- CAACTTTGATGAGAGGGCTCC -3'
(R):5'- gcagcacctttcgcttctc -3'
Posted On 2013-11-07