Incidental Mutation 'IGL01322:Bcl7c'
ID 74077
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bcl7c
Ensembl Gene ENSMUSG00000030814
Gene Name B cell CLL/lymphoma 7C
Synonyms C230096E12Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.112) question?
Stock # IGL01322
Quality Score
Status
Chromosome 7
Chromosomal Location 127260626-127307938 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 127306608 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Tyrosine at position 93 (N93Y)
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: N93Y

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000057937
Gene: ENSMUSG00000030814
AA Change: N93Y

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 probably damaging
Transcript: ENSMUST00000205977
AA Change: N93Y

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
Predicted Effect silent
Transcript: ENSMUST00000206200
Predicted Effect probably benign
Transcript: ENSMUST00000207019
Coding Region Coverage
Validation Efficiency
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 T A 7: 120,038,422 (GRCm39) L368Q probably damaging Het
Abca2 T A 2: 25,336,794 (GRCm39) probably null Het
Ano7 T A 1: 93,323,230 (GRCm39) V497D probably benign Het
B4gat1 T C 19: 5,090,037 (GRCm39) Y345H probably damaging Het
Bckdha T A 7: 25,358,132 (GRCm39) R12W possibly damaging Het
Cc2d2a C A 5: 43,846,345 (GRCm39) T368K probably benign Het
Chek1 G A 9: 36,629,717 (GRCm39) Q210* probably null Het
Chrdl2 A G 7: 99,666,248 (GRCm39) Y56C probably damaging Het
Cspg4 T A 9: 56,805,872 (GRCm39) F2228I probably damaging Het
Dnah7a T C 1: 53,473,205 (GRCm39) M3474V probably benign Het
Dph7 T C 2: 24,855,629 (GRCm39) S143P possibly damaging Het
Ehbp1 T A 11: 22,039,636 (GRCm39) K821N probably damaging Het
Eomes T C 9: 118,313,898 (GRCm39) S648P probably benign Het
Fam20a A G 11: 109,573,738 (GRCm39) V215A probably damaging Het
Fer1l4 T A 2: 155,862,259 (GRCm39) probably null Het
Frem2 A G 3: 53,448,459 (GRCm39) V2319A probably benign Het
Gtf3c4 T C 2: 28,723,584 (GRCm39) D575G probably benign Het
Ifit1bl2 A G 19: 34,596,404 (GRCm39) V404A probably benign Het
Kcnf1 T C 12: 17,225,349 (GRCm39) M291V probably benign Het
Klra1 T A 6: 130,341,224 (GRCm39) I250F probably benign Het
Klra4 T A 6: 130,038,985 (GRCm39) T136S probably benign Het
Mcrs1 A T 15: 99,141,266 (GRCm39) I399N probably damaging Het
Neo1 T C 9: 58,814,368 (GRCm39) E866G possibly damaging Het
Notch3 T C 17: 32,363,445 (GRCm39) D1206G probably damaging Het
Or10ab4 A G 7: 107,654,188 (GRCm39) probably benign Het
Or14c43 T A 7: 86,115,480 (GRCm39) I287N probably damaging Het
Or4z4 A C 19: 12,076,769 (GRCm39) V78G probably benign Het
Or5ae1 T A 7: 84,565,590 (GRCm39) V201E probably damaging Het
Or5b95 A C 19: 12,658,113 (GRCm39) I214L probably benign Het
Or6c210 A G 10: 129,495,995 (GRCm39) T107A probably benign Het
Pnkd A G 1: 74,390,716 (GRCm39) N336D probably damaging Het
Prag1 T C 8: 36,571,088 (GRCm39) V557A probably benign Het
Ptgfr A C 3: 151,541,323 (GRCm39) S62A probably benign Het
Smc2 A G 4: 52,450,842 (GRCm39) Y220C probably damaging Het
Sufu G A 19: 46,439,382 (GRCm39) E246K probably damaging Het
Sult2a1 T A 7: 13,566,604 (GRCm39) R124* probably null Het
Sult4a1 T A 15: 83,970,817 (GRCm39) Y196F possibly damaging Het
Trim15 G A 17: 37,175,975 (GRCm39) R191W probably damaging Het
Ttn A G 2: 76,773,319 (GRCm39) V2361A possibly damaging Het
Usp16 T C 16: 87,263,164 (GRCm39) V122A possibly damaging Het
Vmn1r122 T A 7: 20,868,036 (GRCm39) K6N probably benign Het
Vmn1r34 G A 6: 66,613,899 (GRCm39) Q280* probably null Het
Vmn2r45 T A 7: 8,484,332 (GRCm39) H491L possibly damaging Het
Wdpcp T C 11: 21,661,949 (GRCm39) L407P probably damaging Het
Zfp157 T C 5: 138,445,840 (GRCm39) I65T probably benign Het
Other mutations in Bcl7c
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2013-10-07