Incidental Mutation 'R4957:Ncaph'
ID 381628
Institutional Source Beutler Lab
Gene Symbol Ncaph
Ensembl Gene ENSMUSG00000034906
Gene Name non-SMC condensin I complex, subunit H
Synonyms Brrn1, A730011O11Rik, HCAP-H
MMRRC Submission 042554-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4957 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 126945729-126975857 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 126963177 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 352 (D352G)
Ref Sequence ENSEMBL: ENSMUSP00000106017 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000110387]
AlphaFold Q8C156
Predicted Effect possibly damaging
Transcript: ENSMUST00000110387
AA Change: D352G

PolyPhen 2 Score 0.456 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000106017
Gene: ENSMUSG00000034906
AA Change: D352G

Pfam:Cnd2 25 729 9e-160 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146142
Predicted Effect probably benign
Transcript: ENSMUST00000175885
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177191
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.5%
Validation Efficiency 99% (80/81)
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 barr gene family and a regulatory subunit of the condensin complex. This complex is required for the conversion of interphase chromatin into condensed chromosomes. The protein encoded by this gene is associated with mitotic chromosomes, except during the early phase of chromosome condensation. During interphase, the protein has a distinct punctate nucleolar localization. Alternatively spliced transcript variants encoding different proteins have been described. [provided by RefSeq, Jul 2013]
PHENOTYPE: Homozygous null mice die before E12.5. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110009E18Rik G C 1: 120,096,840 (GRCm39) probably benign Het
3110009E18Rik C T 1: 120,096,850 (GRCm39) probably benign Het
3110009E18Rik G T 1: 120,096,849 (GRCm39) probably benign Het
6820408C15Rik T A 2: 152,286,013 (GRCm39) V342D probably damaging Het
Arhgap33 C T 7: 30,231,786 (GRCm39) G101R probably damaging Het
Atf7ip C T 6: 136,583,808 (GRCm39) R1280C probably damaging Het
Cacnb4 T C 2: 52,448,303 (GRCm39) H8R probably damaging Het
Ccdc150 T A 1: 54,404,027 (GRCm39) probably benign Het
Cd74 A G 18: 60,942,109 (GRCm39) N113D probably benign Het
Cdc25b T C 2: 131,035,525 (GRCm39) V341A possibly damaging Het
Clptm1l T A 13: 73,759,315 (GRCm39) I245N possibly damaging Het
Clptm1l T C 13: 73,760,547 (GRCm39) I310T probably damaging Het
Creb5 A T 6: 53,670,907 (GRCm39) probably null Het
Crebbp T C 16: 3,935,231 (GRCm39) Q460R probably benign Het
Dnah17 A T 11: 117,965,124 (GRCm39) I2306N probably benign Het
Dync1h1 C A 12: 110,624,560 (GRCm39) T3700N probably damaging Het
Elovl1 A T 4: 118,289,120 (GRCm39) H215L probably damaging Het
Enkd1 A G 8: 106,431,121 (GRCm39) I202T probably benign Het
Epha7 C T 4: 28,871,892 (GRCm39) A407V probably damaging Het
Ercc3 G T 18: 32,376,170 (GRCm39) G130W probably damaging Het
Fbxl8 A G 8: 105,994,827 (GRCm39) E113G probably damaging Het
Frmpd1 T G 4: 45,273,099 (GRCm39) N339K probably damaging Het
Frrs1 G A 3: 116,678,897 (GRCm39) D240N probably benign Het
Gemin2 A G 12: 59,063,954 (GRCm39) S105G probably benign Het
Glra1 T A 11: 55,418,224 (GRCm39) I257F probably damaging Het
Gmcl1 G A 6: 86,687,503 (GRCm39) P354S probably damaging Het
Gpr15 G T 16: 58,538,537 (GRCm39) A184E probably damaging Het
Grm7 G A 6: 111,335,824 (GRCm39) G745E probably damaging Het
H2-T10 T A 17: 36,428,308 (GRCm39) probably benign Het
Hdac5 C A 11: 102,096,082 (GRCm39) probably benign Het
Ift22 G A 5: 136,937,070 (GRCm39) probably benign Het
Ighg3 T C 12: 113,324,750 (GRCm39) E34G unknown Het
Itga11 A T 9: 62,674,930 (GRCm39) T821S probably benign Het
Lmod2 T C 6: 24,603,871 (GRCm39) V282A possibly damaging Het
Maml2 A G 9: 13,531,572 (GRCm39) K262R probably damaging Het
Mme T A 3: 63,250,910 (GRCm39) probably benign Het
Mnat1 A G 12: 73,170,652 (GRCm39) Y14C probably damaging Het
Mtdh A T 15: 34,083,281 (GRCm39) T34S possibly damaging Het
Or2t43 A G 11: 58,457,344 (GRCm39) Y276H probably damaging Het
Or4f17-ps1 C A 2: 111,358,569 (GRCm39) N321K probably benign Het
Or5m9b T A 2: 85,905,854 (GRCm39) Y257N probably damaging Het
Or9g8 T C 2: 85,607,459 (GRCm39) F177S probably damaging Het
Pcdhb13 T A 18: 37,577,837 (GRCm39) D738E possibly damaging Het
Pla2g4f C T 2: 120,130,980 (GRCm39) R825Q probably benign Het
Pnliprp2 C T 19: 58,763,577 (GRCm39) L409F possibly damaging Het
Prlr G T 15: 10,319,281 (GRCm39) C70F probably damaging Het
Ptpn14 C T 1: 189,583,469 (GRCm39) T772I probably benign Het
Ryr2 T C 13: 11,799,966 (GRCm39) Q927R probably damaging Het
Scarf1 A G 11: 75,416,460 (GRCm39) E634G probably benign Het
Scart1 T C 7: 139,808,435 (GRCm39) V782A probably damaging Het
Skic3 T G 13: 76,333,232 (GRCm39) probably null Het
Slc39a14 A T 14: 70,553,260 (GRCm39) S158R probably damaging Het
Slc9c1 A T 16: 45,365,194 (GRCm39) T176S probably benign Het
Srsf10 T C 4: 135,583,541 (GRCm39) S2P probably damaging Het
Tcam1 T A 11: 106,173,705 (GRCm39) C50S probably damaging Het
Tcf7l2 A G 19: 55,919,864 (GRCm39) probably null Het
Tdrd3 T A 14: 87,743,223 (GRCm39) H390Q probably benign Het
Tlk2 T C 11: 105,144,185 (GRCm39) probably null Het
Tnc G C 4: 63,894,793 (GRCm39) P1531R probably damaging Het
Tnfrsf1b C A 4: 144,973,327 (GRCm39) Q15H probably damaging Het
Tnfrsf1b T G 4: 144,973,328 (GRCm39) Q15P possibly damaging Het
Tssk4 A T 14: 55,889,266 (GRCm39) E264V probably damaging Het
Ugt3a1 G A 15: 9,365,274 (GRCm39) V296I probably benign Het
Usp5 C G 6: 124,799,593 (GRCm39) K318N possibly damaging Het
Vmn2r8 T G 5: 108,947,129 (GRCm39) E541A probably benign Het
Ybx1 A T 4: 119,136,135 (GRCm39) probably benign Het
Zfp39 T A 11: 58,782,057 (GRCm39) Y235F possibly damaging Het
Zfp422 T A 6: 116,603,904 (GRCm39) K32* probably null Het
Zpbp2 T A 11: 98,442,150 (GRCm39) probably null Het
Other mutations in Ncaph
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02556:Ncaph APN 2 126,968,025 (GRCm39) splice site probably benign
IGL02619:Ncaph APN 2 126,969,456 (GRCm39) missense probably damaging 0.99
IGL02674:Ncaph APN 2 126,955,496 (GRCm39) missense probably damaging 0.98
IGL02679:Ncaph APN 2 126,966,784 (GRCm39) missense possibly damaging 0.95
R2060:Ncaph UTSW 2 126,966,795 (GRCm39) missense probably damaging 1.00
R3508:Ncaph UTSW 2 126,969,113 (GRCm39) missense probably benign 0.33
R4283:Ncaph UTSW 2 126,963,005 (GRCm39) intron probably benign
R4761:Ncaph UTSW 2 126,948,036 (GRCm39) missense probably benign 0.07
R5491:Ncaph UTSW 2 126,965,595 (GRCm39) missense probably benign
R5942:Ncaph UTSW 2 126,958,608 (GRCm39) splice site probably null
R6523:Ncaph UTSW 2 126,947,809 (GRCm39) missense probably damaging 0.97
R7177:Ncaph UTSW 2 126,958,506 (GRCm39) missense probably damaging 1.00
R7188:Ncaph UTSW 2 126,964,034 (GRCm39) missense probably benign 0.09
R7467:Ncaph UTSW 2 126,975,795 (GRCm39) unclassified probably benign
R7857:Ncaph UTSW 2 126,946,165 (GRCm39) missense probably damaging 0.99
R8699:Ncaph UTSW 2 126,963,096 (GRCm39) missense possibly damaging 0.83
R8701:Ncaph UTSW 2 126,948,058 (GRCm39) missense probably benign 0.13
R8843:Ncaph UTSW 2 126,950,529 (GRCm39) missense probably benign
R9090:Ncaph UTSW 2 126,958,554 (GRCm39) missense probably damaging 0.99
R9271:Ncaph UTSW 2 126,958,554 (GRCm39) missense probably damaging 0.99
X0021:Ncaph UTSW 2 126,969,058 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2016-04-27