Incidental Mutation 'IGL03369:Ncaph2'
ID 420218
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ncaph2
Ensembl Gene ENSMUSG00000008690
Gene Name non-SMC condensin II complex, subunit H2
Synonyms 0610010J20Rik, 2610524G04Rik, D15Ertd785e, Kleisin beta
Accession Numbers
Essential gene? Probably essential (E-score: 0.941) question?
Stock # IGL03369
Quality Score
Status
Chromosome 15
Chromosomal Location 89239922-89257029 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 89247858 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 75 (V75G)
Ref Sequence ENSEMBL: ENSMUSP00000036900 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036987] [ENSMUST00000074552] [ENSMUST00000088717] [ENSMUST00000145259]
AlphaFold Q8BSP2
Predicted Effect probably benign
Transcript: ENSMUST00000036987
AA Change: V75G

PolyPhen 2 Score 0.434 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000036900
Gene: ENSMUSG00000008690
AA Change: V75G

DomainStartEndE-ValueType
Pfam:DUF1032 20 576 N/A PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000074552
AA Change: V106G

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000074139
Gene: ENSMUSG00000008690
AA Change: V106G

DomainStartEndE-ValueType
Pfam:DUF1032 51 607 N/A PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000088717
AA Change: V106G

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000086095
Gene: ENSMUSG00000008690
AA Change: V106G

DomainStartEndE-ValueType
Pfam:CNDH2_N 11 123 1.2e-48 PFAM
Pfam:CNDH2_M 147 285 2.1e-20 PFAM
Pfam:CNDH2_C 308 598 1.9e-90 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123889
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141643
Predicted Effect probably benign
Transcript: ENSMUST00000145259
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145793
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a component of the condensin-2 complex. The encoded protein may regulate the structure of mitotic chromosomes. Loss of function of this gene disrupts T-cell development. There are two pseudogenes for this gene on chromosome 17. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2012]
PHENOTYPE: Mice homozygous for an ENU-induced single point mutation display a specific defect in T cell development but are otherwise viable, fertile and overtly healthy with no apparent defects in B cell development. Homozygous null mice die before E12.5. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700013D24Rik T C 6: 124,333,380 (GRCm39) N72S possibly damaging Het
A2m G A 6: 121,653,862 (GRCm39) probably null Het
Angptl3 A T 4: 98,923,057 (GRCm39) probably benign Het
Aox4 A G 1: 58,301,746 (GRCm39) D1106G probably benign Het
Capn13 G A 17: 73,648,149 (GRCm39) probably benign Het
Cep250 A G 2: 155,832,191 (GRCm39) H1371R probably benign Het
Chrna1 A T 2: 73,400,789 (GRCm39) F247Y probably benign Het
Col2a1 T C 15: 97,879,923 (GRCm39) T813A unknown Het
Dab2 T C 15: 6,464,790 (GRCm39) V414A possibly damaging Het
Dach2 T C X: 112,465,937 (GRCm39) probably benign Het
Fap A G 2: 62,333,699 (GRCm39) probably benign Het
Fgd5 T A 6: 91,965,396 (GRCm39) V385D probably damaging Het
Fmnl1 A G 11: 103,088,008 (GRCm39) probably null Het
Gorasp2 G A 2: 70,513,336 (GRCm39) G201D probably damaging Het
Gp2 T A 7: 119,050,783 (GRCm39) Q316L probably damaging Het
Gpx8 T C 13: 113,179,696 (GRCm39) I202V probably damaging Het
Gsta3 A G 1: 21,335,173 (GRCm39) K218R probably benign Het
Lama3 C T 18: 12,686,340 (GRCm39) T1195I probably benign Het
Map3k12 T C 15: 102,410,514 (GRCm39) R488G possibly damaging Het
Mapt A T 11: 104,173,259 (GRCm39) Y18F probably damaging Het
Med21 T C 6: 146,544,143 (GRCm39) V12A probably benign Het
Mgat4b A G 11: 50,124,936 (GRCm39) E457G possibly damaging Het
Mybl1 T A 1: 9,742,780 (GRCm39) K609N probably damaging Het
Neb A G 2: 52,068,049 (GRCm39) Y5795H probably benign Het
Nup153 A G 13: 46,854,459 (GRCm39) probably null Het
Or6c215 T C 10: 129,638,340 (GRCm39) D18G probably damaging Het
Or6y1 T A 1: 174,276,435 (GRCm39) I82N probably damaging Het
Plekhf2 G T 4: 10,990,703 (GRCm39) T213K probably benign Het
Plekho2 C A 9: 65,466,776 (GRCm39) G105W probably damaging Het
Polr3b G A 10: 84,512,816 (GRCm39) G566D probably damaging Het
Rasgrf1 T C 9: 89,892,504 (GRCm39) I1068T probably damaging Het
Rnf213 A T 11: 119,312,294 (GRCm39) E907V probably benign Het
Runx1t1 C T 4: 13,881,107 (GRCm39) S469F probably damaging Het
Spata31e4 G T 13: 50,857,200 (GRCm39) C946F possibly damaging Het
Top1 A T 2: 160,535,647 (GRCm39) D182V unknown Het
Uckl1 T C 2: 181,211,982 (GRCm39) T375A probably benign Het
Usp53 A T 3: 122,727,370 (GRCm39) probably benign Het
Vmn2r61 T A 7: 41,909,517 (GRCm39) I14N probably benign Het
Wbp4 A T 14: 79,707,558 (GRCm39) N184K probably damaging Het
Other mutations in Ncaph2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00784:Ncaph2 APN 15 89,254,243 (GRCm39) missense probably damaging 1.00
IGL01640:Ncaph2 APN 15 89,248,041 (GRCm39) splice site probably null
IGL02550:Ncaph2 APN 15 89,254,064 (GRCm39) nonsense probably null
IGL02884:Ncaph2 APN 15 89,248,447 (GRCm39) critical splice donor site probably null
R0051:Ncaph2 UTSW 15 89,253,867 (GRCm39) missense probably damaging 0.98
R0051:Ncaph2 UTSW 15 89,253,867 (GRCm39) missense probably damaging 0.98
R0384:Ncaph2 UTSW 15 89,253,594 (GRCm39) missense probably benign 0.00
R1677:Ncaph2 UTSW 15 89,255,427 (GRCm39) missense probably damaging 1.00
R1680:Ncaph2 UTSW 15 89,248,825 (GRCm39) missense probably benign
R2570:Ncaph2 UTSW 15 89,254,678 (GRCm39) missense probably benign 0.03
R4647:Ncaph2 UTSW 15 89,254,635 (GRCm39) missense probably damaging 1.00
R4731:Ncaph2 UTSW 15 89,240,030 (GRCm39) unclassified probably benign
R4795:Ncaph2 UTSW 15 89,255,010 (GRCm39) missense probably damaging 1.00
R4796:Ncaph2 UTSW 15 89,255,010 (GRCm39) missense probably damaging 1.00
R4917:Ncaph2 UTSW 15 89,244,574 (GRCm39) missense probably damaging 1.00
R5089:Ncaph2 UTSW 15 89,240,148 (GRCm39) critical splice donor site probably null
R6143:Ncaph2 UTSW 15 89,248,206 (GRCm39) critical splice donor site probably null
R6500:Ncaph2 UTSW 15 89,248,407 (GRCm39) missense probably benign 0.00
R6768:Ncaph2 UTSW 15 89,248,202 (GRCm39) nonsense probably null
R6827:Ncaph2 UTSW 15 89,255,530 (GRCm39) missense probably damaging 1.00
R7033:Ncaph2 UTSW 15 89,255,559 (GRCm39) missense probably benign 0.00
R7272:Ncaph2 UTSW 15 89,248,385 (GRCm39) missense probably benign
R7386:Ncaph2 UTSW 15 89,254,459 (GRCm39) nonsense probably null
R8867:Ncaph2 UTSW 15 89,254,605 (GRCm39) missense probably benign 0.02
R8900:Ncaph2 UTSW 15 89,253,594 (GRCm39) missense probably benign 0.00
R9719:Ncaph2 UTSW 15 89,249,526 (GRCm39) missense probably benign
Posted On 2016-08-02