Incidental Mutation 'R6936:Mcmbp'
ID 540302
Institutional Source Beutler Lab
Gene Symbol Mcmbp
Ensembl Gene ENSMUSG00000048170
Gene Name minichromosome maintenance complex binding protein
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6936 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 128696441-128740495 bp(-) (GRCm38)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 128725196 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 21 (Q21*)
Ref Sequence ENSEMBL: ENSMUSP00000113961 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057557] [ENSMUST00000119081]
AlphaFold Q8R3C0
Predicted Effect probably null
Transcript: ENSMUST00000057557
AA Change: Q21*
SMART Domains Protein: ENSMUSP00000062843
Gene: ENSMUSG00000048170
AA Change: Q21*

DomainStartEndE-ValueType
Pfam:MCM_bind 37 166 1.6e-44 PFAM
Pfam:Racemase_4 352 451 1.5e-38 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000119081
AA Change: Q21*
SMART Domains Protein: ENSMUSP00000113961
Gene: ENSMUSG00000048170
AA Change: Q21*

DomainStartEndE-ValueType
Pfam:MCM_bind 36 588 3.6e-210 PFAM
low complexity region 603 623 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.8%
  • 10x: 99.0%
  • 20x: 96.7%
Validation Efficiency 98% (48/49)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein which is a component of the hexameric minichromosome maintenance (MCM) complex which regulates initiation and elongation of DNA. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A T 11: 9,298,568 I2772F probably damaging Het
Adam1a A G 5: 121,519,362 C623R probably damaging Het
Ak2 T C 4: 128,999,212 S55P probably damaging Het
Ak4 C T 4: 101,447,259 A82V probably benign Het
Arhgap10 A T 8: 77,310,747 C617* probably null Het
Art1 A T 7: 102,106,770 D56V possibly damaging Het
Ascc3 A G 10: 50,729,961 D1392G probably damaging Het
Bbs5 T C 2: 69,654,354 S123P probably damaging Het
Cabin1 A T 10: 75,715,758 probably null Het
Carmil3 G A 14: 55,501,561 E891K probably benign Het
Cbfa2t3 C G 8: 122,647,739 R89P probably damaging Het
Ccdc157 A G 11: 4,144,030 S534P probably benign Het
Cep72 A T 13: 74,040,087 I229N probably damaging Het
Cnn3 C T 3: 121,450,053 probably benign Het
Cyp2c70 A G 19: 40,167,563 V181A probably damaging Het
Cyp2d26 C T 15: 82,792,540 D202N probably benign Het
Dbh A G 2: 27,172,797 K343E probably benign Het
Dlx5 A G 6: 6,879,585 Y161H probably damaging Het
Dnah5 A T 15: 28,409,268 I3611F probably damaging Het
Egf A C 3: 129,681,204 F563V possibly damaging Het
Enpp1 T C 10: 24,651,339 H650R probably benign Het
Exoc6 A G 19: 37,571,863 I109M probably benign Het
Fan1 T A 7: 64,372,486 N340Y probably damaging Het
Fgg C T 3: 83,008,420 S56F possibly damaging Het
Fras1 A G 5: 96,768,352 D3415G possibly damaging Het
Ghsr A G 3: 27,372,325 I177V probably benign Het
Gm1979 A T 5: 26,002,030 H62Q probably benign Het
Gpatch2 A G 1: 187,233,236 D313G probably benign Het
Gtf2i C T 5: 134,242,785 E823K probably damaging Het
Hook2 C A 8: 85,002,998 T689N probably benign Het
Hrnr A T 3: 93,332,360 N3302Y unknown Het
Igkv7-33 G A 6: 70,058,801 P66S possibly damaging Het
Kcnh2 T A 5: 24,324,339 I800F probably damaging Het
Mmp21 T C 7: 133,678,975 K89E probably benign Het
Olfr142 A G 2: 90,252,334 V218A probably benign Het
Olfr584 A T 7: 103,085,814 I94F probably damaging Het
Pcdhga4 A G 18: 37,687,405 D669G possibly damaging Het
Ralgapa1 T C 12: 55,786,212 T169A probably damaging Het
Sec31a T C 5: 100,392,510 N35S probably benign Het
Serpinb5 A T 1: 106,870,418 T46S probably benign Het
Svs2 A G 2: 164,237,628 S120P possibly damaging Het
Tbpl2 T C 2: 24,094,941 T64A probably benign Het
Tecpr2 T A 12: 110,944,863 H1111Q possibly damaging Het
Tm9sf3 A G 19: 41,223,199 F402L probably benign Het
Tmem120b T G 5: 123,116,224 V287G possibly damaging Het
Tmem150c T C 5: 100,083,718 T133A possibly damaging Het
Ubqln3 A T 7: 104,142,310 V191D probably damaging Het
Ubr2 T C 17: 46,973,031 E564G possibly damaging Het
Zkscan1 T C 5: 138,093,305 V100A probably damaging Het
Other mutations in Mcmbp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01308:Mcmbp APN 7 128714485 nonsense probably null
IGL01511:Mcmbp APN 7 128707164 missense probably damaging 1.00
IGL02351:Mcmbp APN 7 128709781 critical splice donor site probably null
IGL02358:Mcmbp APN 7 128709781 critical splice donor site probably null
IGL02470:Mcmbp APN 7 128704621 missense possibly damaging 0.94
R1390:Mcmbp UTSW 7 128724141 missense probably damaging 1.00
R1450:Mcmbp UTSW 7 128715931 splice site probably benign
R1844:Mcmbp UTSW 7 128723974 missense probably damaging 0.97
R1998:Mcmbp UTSW 7 128709163 missense probably damaging 1.00
R2926:Mcmbp UTSW 7 128698014 unclassified probably benign
R2943:Mcmbp UTSW 7 128723973 missense probably damaging 1.00
R4211:Mcmbp UTSW 7 128716005 missense possibly damaging 0.90
R4771:Mcmbp UTSW 7 128698400 splice site probably null
R4947:Mcmbp UTSW 7 128712696 missense probably damaging 1.00
R5428:Mcmbp UTSW 7 128704524 missense probably benign 0.28
R5668:Mcmbp UTSW 7 128712754 missense probably benign 0.00
R6401:Mcmbp UTSW 7 128707059 missense possibly damaging 0.91
R6520:Mcmbp UTSW 7 128712727 missense possibly damaging 0.58
R6885:Mcmbp UTSW 7 128725109 splice site probably null
R7378:Mcmbp UTSW 7 128704517 missense probably damaging 1.00
R7476:Mcmbp UTSW 7 128703582 missense probably damaging 1.00
R8730:Mcmbp UTSW 7 128716014 missense probably damaging 1.00
R8777:Mcmbp UTSW 7 128707131 missense probably damaging 1.00
R8777-TAIL:Mcmbp UTSW 7 128707131 missense probably damaging 1.00
R8917:Mcmbp UTSW 7 128698557 missense probably benign 0.00
R9377:Mcmbp UTSW 7 128716079 missense probably benign 0.31
R9527:Mcmbp UTSW 7 128703518 missense probably damaging 1.00
R9789:Mcmbp UTSW 7 128709859 missense possibly damaging 0.75
R9797:Mcmbp UTSW 7 128715972 missense possibly damaging 0.72
Predicted Primers PCR Primer
(F):5'- TGGAAGAGCTGTATGCACTC -3'
(R):5'- CTCAGTGGTTAATGGCAGGG -3'

Sequencing Primer
(F):5'- CACTGCGCTACTTCTAGTCACG -3'
(R):5'- AAGCAGCCTGGGTTTGC -3'
Posted On 2018-11-06