Incidental Mutation 'IGL01322:Bcl7c'
ID74077
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bcl7c
Ensembl Gene ENSMUSG00000030814
Gene NameB cell CLL/lymphoma 7C
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.247) question?
Stock #IGL01322
Quality Score
Status
Chromosome7
Chromosomal Location127661456-127708933 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 127707436 bp
ZygosityHeterozygous
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]
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: 120,439,199 L368Q probably damaging Het
Abca2 T A 2: 25,446,782 probably null Het
Ano7 T A 1: 93,395,508 V497D probably benign Het
B4gat1 T C 19: 5,040,009 Y345H probably damaging Het
Bckdha T A 7: 25,658,707 R12W possibly damaging Het
Cc2d2a C A 5: 43,689,003 T368K probably benign Het
Chek1 G A 9: 36,718,421 Q210* probably null Het
Chrdl2 A G 7: 100,017,041 Y56C probably damaging Het
Cspg4 T A 9: 56,898,588 F2228I probably damaging Het
Dnah7a T C 1: 53,434,046 M3474V probably benign Het
Dph7 T C 2: 24,965,617 S143P possibly damaging Het
Ehbp1 T A 11: 22,089,636 K821N probably damaging Het
Eomes T C 9: 118,484,830 S648P probably benign Het
Fam20a A G 11: 109,682,912 V215A probably damaging Het
Fer1l4 T A 2: 156,020,339 probably null Het
Frem2 A G 3: 53,541,038 V2319A probably benign Het
Gtf3c4 T C 2: 28,833,572 D575G probably benign Het
Ifit1bl2 A G 19: 34,619,004 V404A probably benign Het
Kcnf1 T C 12: 17,175,348 M291V probably benign Het
Klra1 T A 6: 130,364,261 I250F probably benign Het
Klra4 T A 6: 130,062,022 T136S probably benign Het
Mcrs1 A T 15: 99,243,385 I399N probably damaging Het
Neo1 T C 9: 58,907,085 E866G possibly damaging Het
Notch3 T C 17: 32,144,471 D1206G probably damaging Het
Olfr1427 A C 19: 12,099,405 V78G probably benign Het
Olfr1443 A C 19: 12,680,749 I214L probably benign Het
Olfr290 T A 7: 84,916,382 V201E probably damaging Het
Olfr299 T A 7: 86,466,272 I287N probably damaging Het
Olfr479 A G 7: 108,054,981 probably benign Het
Olfr800 A G 10: 129,660,126 T107A probably benign Het
Pnkd A G 1: 74,351,557 N336D probably damaging Het
Prag1 T C 8: 36,103,934 V557A probably benign Het
Ptgfr A C 3: 151,835,686 S62A probably benign Het
Smc2 A G 4: 52,450,842 Y220C probably damaging Het
Sufu G A 19: 46,450,943 E246K probably damaging Het
Sult2a1 T A 7: 13,832,679 R124* probably null Het
Sult4a1 T A 15: 84,086,616 Y196F possibly damaging Het
Trim15 G A 17: 36,865,083 R191W probably damaging Het
Ttn A G 2: 76,942,975 V2361A possibly damaging Het
Usp16 T C 16: 87,466,276 V122A possibly damaging Het
Vmn1r122 T A 7: 21,134,111 K6N probably benign Het
Vmn1r34 G A 6: 66,636,915 Q280* probably null Het
Vmn2r45 T A 7: 8,481,333 H491L possibly damaging Het
Wdpcp T C 11: 21,711,949 L407P probably damaging Het
Zfp157 T C 5: 138,447,578 I65T probably benign Het
Other mutations in Bcl7c
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0189:Bcl7c UTSW 7 127705764 missense probably damaging 1.00
R0345:Bcl7c UTSW 7 127708463 missense possibly damaging 0.95
R0940:Bcl7c UTSW 7 127707331 missense possibly damaging 0.74
R3905:Bcl7c UTSW 7 127666983 missense possibly damaging 0.53
R6217:Bcl7c UTSW 7 127708526 start codon destroyed probably null 1.00
Posted On2013-10-07