Incidental Mutation 'IGL02674:Ncaph'
ID 303044
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ncaph
Ensembl Gene ENSMUSG00000034906
Gene Name non-SMC condensin I complex, subunit H
Synonyms A730011O11Rik, HCAP-H, Brrn1
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02674
Quality Score
Chromosome 2
Chromosomal Location 127103809-127133954 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 127113576 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 554 (Y554C)
Ref Sequence ENSEMBL: ENSMUSP00000106017 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000110387]
AlphaFold Q8C156
Predicted Effect probably damaging
Transcript: ENSMUST00000110387
AA Change: Y554C

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000106017
Gene: ENSMUSG00000034906
AA Change: Y554C

Pfam:Cnd2 25 729 9e-160 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146142
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152806
Predicted Effect probably benign
Transcript: ENSMUST00000175885
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 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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ago2 T C 15: 73,111,794 R689G probably damaging Het
Agrn C T 4: 156,174,561 probably benign Het
Akna A T 4: 63,370,944 C1247* probably null Het
Appl1 T G 14: 26,949,461 T345P possibly damaging Het
Ccdc129 A G 6: 55,897,928 T288A probably benign Het
Chga A G 12: 102,562,901 D379G probably damaging Het
Chrna6 C T 8: 27,406,851 A333T probably benign Het
Col14a1 G A 15: 55,418,782 G813E unknown Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Dnhd1 A G 7: 105,721,481 Q4656R probably benign Het
Dock9 A C 14: 121,595,611 probably null Het
Fat4 A G 3: 38,983,337 N3713D probably benign Het
Fsd1 A T 17: 55,996,483 T452S probably benign Het
G6pc2 A G 2: 69,226,566 probably null Het
Kcnh4 C A 11: 100,746,894 V646L possibly damaging Het
Kcnk1 T C 8: 126,025,014 Y120H probably damaging Het
L3mbtl3 C T 10: 26,282,813 E646K unknown Het
Lrrc4c T C 2: 97,629,775 W249R probably damaging Het
Meox1 A T 11: 101,893,941 L22H probably damaging Het
Mrgpra4 C T 7: 47,980,942 V304M probably benign Het
Nfx1 T C 4: 40,999,717 probably null Het
Olfr796 A C 10: 129,608,070 M137R possibly damaging Het
Olfr970 A G 9: 39,819,638 probably null Het
Otol1 C T 3: 70,018,744 P84L probably benign Het
Pcdhb11 T C 18: 37,423,614 S666P probably damaging Het
Pou2f3 T C 9: 43,139,333 K244R probably damaging Het
Ppp6r1 T C 7: 4,646,813 N51S probably damaging Het
Prdm4 A T 10: 85,893,399 L715M probably damaging Het
Rgs11 G A 17: 26,207,631 V279I probably benign Het
Rsc1a1 G T 4: 141,684,095 P502Q probably damaging Het
Senp1 T C 15: 98,056,959 E448G probably damaging Het
Shd A G 17: 55,971,554 D39G possibly damaging Het
Skint5 A C 4: 113,630,385 probably benign Het
Tmprss15 T G 16: 79,001,794 T667P possibly damaging Het
Tsta3 T C 15: 75,926,389 D178G probably damaging Het
Vps13b A T 15: 35,639,958 M1325L probably benign Het
Zfp263 T C 16: 3,746,765 probably benign Het
Zfp786 A G 6: 47,820,493 F504L probably benign Het
Other mutations in Ncaph
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02556:Ncaph APN 2 127126105 splice site probably benign
IGL02619:Ncaph APN 2 127127536 missense probably damaging 0.99
IGL02679:Ncaph APN 2 127124864 missense possibly damaging 0.95
R2060:Ncaph UTSW 2 127124875 missense probably damaging 1.00
R3508:Ncaph UTSW 2 127127193 missense probably benign 0.33
R4283:Ncaph UTSW 2 127121085 intron probably benign
R4761:Ncaph UTSW 2 127106116 missense probably benign 0.07
R4957:Ncaph UTSW 2 127121257 missense possibly damaging 0.46
R5491:Ncaph UTSW 2 127123675 missense probably benign
R5942:Ncaph UTSW 2 127116688 splice site probably null
R6523:Ncaph UTSW 2 127105889 missense probably damaging 0.97
R7177:Ncaph UTSW 2 127116586 missense probably damaging 1.00
R7188:Ncaph UTSW 2 127122114 missense probably benign 0.09
R7467:Ncaph UTSW 2 127133875 unclassified probably benign
R7857:Ncaph UTSW 2 127104245 missense probably damaging 0.99
R8699:Ncaph UTSW 2 127121176 missense possibly damaging 0.83
R8701:Ncaph UTSW 2 127106138 missense probably benign 0.13
R8843:Ncaph UTSW 2 127108609 missense probably benign
R9090:Ncaph UTSW 2 127116634 missense probably damaging 0.99
R9271:Ncaph UTSW 2 127116634 missense probably damaging 0.99
X0021:Ncaph UTSW 2 127127138 missense probably damaging 1.00
Posted On 2015-04-16