Incidental Mutation 'IGL02370:Cnnm1'
ID290915
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cnnm1
Ensembl Gene ENSMUSG00000025189
Gene Namecyclin M1
SynonymsAcdp1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.161) question?
Stock #IGL02370
Quality Score
Status
Chromosome19
Chromosomal Location43440436-43497210 bp(+) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 43471950 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000153472 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000165311] [ENSMUST00000165311] [ENSMUST00000223787] [ENSMUST00000223787]
Predicted Effect probably null
Transcript: ENSMUST00000165311
SMART Domains Protein: ENSMUSP00000131830
Gene: ENSMUSG00000025189

DomainStartEndE-ValueType
low complexity region 25 32 N/A INTRINSIC
low complexity region 78 95 N/A INTRINSIC
low complexity region 112 120 N/A INTRINSIC
low complexity region 165 183 N/A INTRINSIC
low complexity region 193 202 N/A INTRINSIC
Pfam:DUF21 224 414 1.8e-27 PFAM
Blast:CBS 438 489 2e-12 BLAST
CBS 505 561 5.02e0 SMART
Blast:cNMP 634 802 2e-44 BLAST
Predicted Effect probably null
Transcript: ENSMUST00000165311
SMART Domains Protein: ENSMUSP00000131830
Gene: ENSMUSG00000025189

DomainStartEndE-ValueType
low complexity region 25 32 N/A INTRINSIC
low complexity region 78 95 N/A INTRINSIC
low complexity region 112 120 N/A INTRINSIC
low complexity region 165 183 N/A INTRINSIC
low complexity region 193 202 N/A INTRINSIC
Pfam:DUF21 224 414 1.8e-27 PFAM
Blast:CBS 438 489 2e-12 BLAST
CBS 505 561 5.02e0 SMART
Blast:cNMP 634 802 2e-44 BLAST
Predicted Effect probably null
Transcript: ENSMUST00000223787
Predicted Effect probably null
Transcript: ENSMUST00000223787
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225254
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225421
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 encodes a member of the ancient conserved domain protein family. The encoded protein may bind copper. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1300017J02Rik A G 9: 103,263,074 V482A probably benign Het
4732471J01Rik T C 7: 25,384,888 probably benign Het
Abra T C 15: 41,869,244 D142G probably damaging Het
Aldh9a1 A G 1: 167,356,532 N199D probably damaging Het
Baz2b A T 2: 59,923,589 I1130N possibly damaging Het
Cacna1s A G 1: 136,085,347 I312V probably damaging Het
Chrd A G 16: 20,735,791 M367V possibly damaging Het
Clec12a C T 6: 129,354,576 A160V possibly damaging Het
Cntnap3 A T 13: 64,751,751 M976K probably benign Het
Cyp27b1 T C 10: 127,050,674 probably benign Het
Ddx54 T A 5: 120,619,787 L226Q probably damaging Het
Dnah7a A G 1: 53,635,397 V407A probably benign Het
Elp4 A G 2: 105,794,592 S201P probably damaging Het
Exoc3 A T 13: 74,192,761 V308D probably benign Het
Exosc3 A G 4: 45,319,671 I117T probably damaging Het
Gbx2 A T 1: 89,929,149 probably benign Het
Gm4858 A G 3: 93,074,047 D124G possibly damaging Het
Hnf1b A C 11: 83,882,733 T253P possibly damaging Het
Itih5 A T 2: 10,186,975 Y107F probably benign Het
Kcnb2 A G 1: 15,710,935 N677S probably benign Het
Knstrn T A 2: 118,823,788 probably null Het
Lin9 G T 1: 180,688,018 C451F probably damaging Het
Mast1 A C 8: 84,912,254 V1482G probably benign Het
Mroh4 A G 15: 74,625,541 F144L probably benign Het
Myrf T C 19: 10,214,140 N945D probably benign Het
Nfrkb G A 9: 31,389,012 G33D probably benign Het
Olfr1036 C A 2: 86,074,788 T16K probably damaging Het
P2ry13 T C 3: 59,209,465 I297M probably damaging Het
Pcdhb21 T A 18: 37,514,592 probably null Het
Pitpnm3 A G 11: 72,051,858 Y868H probably benign Het
Pou2f3 G A 9: 43,137,348 R266W probably damaging Het
Rcn3 T C 7: 45,083,333 S304G probably benign Het
Rinl A G 7: 28,794,972 probably null Het
Sema5a T C 15: 32,682,299 probably benign Het
Sipa1l2 A G 8: 125,480,269 L565P probably damaging Het
Slc5a9 A G 4: 111,877,629 I656T probably benign Het
Sptan1 A G 2: 30,030,740 K2404R probably damaging Het
Tarsl2 C A 7: 65,661,165 P314Q probably benign Het
Tbc1d14 C T 5: 36,495,218 V627I possibly damaging Het
Tfcp2 A T 15: 100,512,304 V394D probably damaging Het
Trerf1 C T 17: 47,314,461 noncoding transcript Het
Ucp2 A G 7: 100,498,384 N190S probably damaging Het
Vmn2r124 A G 17: 18,064,191 Q498R probably benign Het
Yeats2 T A 16: 20,150,471 I4N probably damaging Het
Zfp574 T G 7: 25,079,589 I12S possibly damaging Het
Zscan29 T A 2: 121,163,833 E522V probably benign Het
Other mutations in Cnnm1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01615:Cnnm1 APN 19 43471936 missense probably benign 0.10
R0329:Cnnm1 UTSW 19 43441910 missense probably damaging 1.00
R0400:Cnnm1 UTSW 19 43468364 missense probably damaging 1.00
R1417:Cnnm1 UTSW 19 43469723 missense probably benign 0.05
R1478:Cnnm1 UTSW 19 43471856 missense probably damaging 1.00
R1743:Cnnm1 UTSW 19 43471913 missense possibly damaging 0.93
R2290:Cnnm1 UTSW 19 43491502 missense probably benign
R2509:Cnnm1 UTSW 19 43441886 missense probably damaging 1.00
R2910:Cnnm1 UTSW 19 43469647 missense possibly damaging 0.58
R3107:Cnnm1 UTSW 19 43441561 missense probably damaging 0.97
R3109:Cnnm1 UTSW 19 43441561 missense probably damaging 0.97
R3922:Cnnm1 UTSW 19 43440445 start codon destroyed probably null
R3923:Cnnm1 UTSW 19 43440445 start codon destroyed probably null
R4804:Cnnm1 UTSW 19 43491575 missense probably benign 0.02
R5199:Cnnm1 UTSW 19 43494986 missense possibly damaging 0.84
R5347:Cnnm1 UTSW 19 43441862 missense probably benign 0.42
R5595:Cnnm1 UTSW 19 43465157 missense possibly damaging 0.85
R5964:Cnnm1 UTSW 19 43469723 missense probably benign 0.42
R5969:Cnnm1 UTSW 19 43491472 missense probably damaging 1.00
R6383:Cnnm1 UTSW 19 43465266 critical splice donor site probably null
R7072:Cnnm1 UTSW 19 43440857 missense probably benign
R7092:Cnnm1 UTSW 19 43441948 missense probably damaging 1.00
R7126:Cnnm1 UTSW 19 43484853 missense probably damaging 1.00
R7432:Cnnm1 UTSW 19 43468271 missense probably benign 0.09
R7445:Cnnm1 UTSW 19 43440821 missense possibly damaging 0.95
Posted On2015-04-16