Incidental Mutation 'IGL02884:Ncaph2'
ID362948
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ncaph2
Ensembl Gene ENSMUSG00000008690
Gene Namenon-SMC condensin II complex, subunit H2
SynonymsKleisin beta, D15Ertd785e, 2610524G04Rik, 0610010J20Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.938) question?
Stock #IGL02884
Quality Score
Status
Chromosome15
Chromosomal Location89355719-89372826 bp(+) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 89364244 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000086095 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036987] [ENSMUST00000074552] [ENSMUST00000088717] [ENSMUST00000145259]
Predicted Effect probably null
Transcript: ENSMUST00000036987
SMART Domains Protein: ENSMUSP00000036900
Gene: ENSMUSG00000008690

DomainStartEndE-ValueType
Pfam:DUF1032 20 576 N/A PFAM
Predicted Effect probably null
Transcript: ENSMUST00000074552
SMART Domains Protein: ENSMUSP00000074139
Gene: ENSMUSG00000008690

DomainStartEndE-ValueType
Pfam:DUF1032 51 607 N/A PFAM
Predicted Effect probably null
Transcript: ENSMUST00000088717
SMART Domains Protein: ENSMUSP00000086095
Gene: ENSMUSG00000008690

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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930438A08Rik A G 11: 58,287,476 I121V probably benign Het
Adprh C T 16: 38,446,034 V249I probably benign Het
Akap11 A T 14: 78,498,962 M1797K probably benign Het
Akap6 T A 12: 52,886,622 I299N probably benign Het
Akr1c12 A T 13: 4,272,212 M277K possibly damaging Het
Ankrd17 A T 5: 90,264,757 M1236K probably damaging Het
Arhgef11 A G 3: 87,728,006 D874G probably damaging Het
Atg4b T C 1: 93,787,715 probably benign Het
Bcl9 G A 3: 97,210,052 P442L probably damaging Het
Ccdc107 A T 4: 43,495,228 K98* probably null Het
Ccdc129 T C 6: 55,874,354 probably null Het
Cenpl A G 1: 161,086,049 Q343R probably benign Het
Cep104 T C 4: 153,989,862 C524R probably damaging Het
Clec3b C T 9: 123,156,762 T75I probably benign Het
Col13a1 A T 10: 61,905,285 probably benign Het
Crot C T 5: 8,978,197 probably null Het
Ddo G A 10: 40,637,364 V101I probably benign Het
Disp2 T C 2: 118,787,551 probably benign Het
Dnmt3b A C 2: 153,674,377 Y474S probably damaging Het
Dpp6 T A 5: 27,634,556 N298K possibly damaging Het
Fbf1 C T 11: 116,146,513 E940K probably damaging Het
Fgd6 A G 10: 94,045,639 probably benign Het
H2-M10.2 T C 17: 36,284,676 R241G probably damaging Het
Haghl A T 17: 25,783,098 F207Y possibly damaging Het
Helt G A 8: 46,292,583 R88C probably damaging Het
Igf2bp2 T C 16: 22,162,885 K27E probably benign Het
Il1b T C 2: 129,365,102 H246R probably benign Het
Kcnu1 C T 8: 25,921,528 S167L probably damaging Het
Kif16b A T 2: 142,702,614 probably benign Het
Myh7 A T 14: 54,992,819 S19T probably benign Het
Nlrp4c T C 7: 6,098,952 L879P probably damaging Het
Nqo2 T A 13: 33,972,361 N19K probably damaging Het
Olfr456 C T 6: 42,486,606 V196M probably damaging Het
Osbpl1a C A 18: 12,819,578 G93* probably null Het
Pdxdc1 A G 16: 13,843,795 F459L possibly damaging Het
Phc2 A T 4: 128,708,016 H88L probably damaging Het
Pkd1l2 G A 8: 117,065,745 T436I probably benign Het
Ptchd4 A T 17: 42,502,449 T414S possibly damaging Het
Rab7b A G 1: 131,698,542 R103G probably damaging Het
Retnla A G 16: 48,842,580 Y3C probably benign Het
Samd7 G A 3: 30,756,173 R113H probably damaging Het
Shisa9 G A 16: 11,997,043 probably benign Het
Soat1 A T 1: 156,441,356 I208N possibly damaging Het
Stab1 C A 14: 31,150,143 probably null Het
Tti2 C T 8: 31,151,477 L210F possibly damaging Het
Ube2v2 A G 16: 15,556,485 V77A probably benign Het
Ubr5 T C 15: 37,998,376 E1617G probably damaging Het
Vmn2r16 T A 5: 109,360,891 I495K possibly damaging Het
Vwce G T 19: 10,646,579 R278L possibly damaging Het
Wdr26 C T 1: 181,182,784 A551T probably damaging Het
Wee1 A G 7: 110,126,062 I304V probably benign Het
Xrcc5 C T 1: 72,346,237 H496Y possibly damaging Het
Zfp142 G T 1: 74,571,983 S884R probably damaging Het
Other mutations in Ncaph2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00784:Ncaph2 APN 15 89370040 missense probably damaging 1.00
IGL01640:Ncaph2 APN 15 89363838 splice site probably null
IGL02550:Ncaph2 APN 15 89369861 nonsense probably null
IGL03369:Ncaph2 APN 15 89363655 missense probably benign 0.43
R0051:Ncaph2 UTSW 15 89369664 missense probably damaging 0.98
R0051:Ncaph2 UTSW 15 89369664 missense probably damaging 0.98
R0384:Ncaph2 UTSW 15 89369391 missense probably benign 0.00
R1677:Ncaph2 UTSW 15 89371224 missense probably damaging 1.00
R1680:Ncaph2 UTSW 15 89364622 missense probably benign
R2570:Ncaph2 UTSW 15 89370475 missense probably benign 0.03
R4647:Ncaph2 UTSW 15 89370432 missense probably damaging 1.00
R4731:Ncaph2 UTSW 15 89355827 unclassified probably benign
R4795:Ncaph2 UTSW 15 89370807 missense probably damaging 1.00
R4796:Ncaph2 UTSW 15 89370807 missense probably damaging 1.00
R4917:Ncaph2 UTSW 15 89360371 missense probably damaging 1.00
R5089:Ncaph2 UTSW 15 89355945 critical splice donor site probably null
R6143:Ncaph2 UTSW 15 89364003 critical splice donor site probably null
R6500:Ncaph2 UTSW 15 89364204 missense probably benign 0.00
R6768:Ncaph2 UTSW 15 89363999 nonsense probably null
R6827:Ncaph2 UTSW 15 89371327 missense probably damaging 1.00
R7033:Ncaph2 UTSW 15 89371356 missense probably benign 0.00
R7272:Ncaph2 UTSW 15 89364182 missense probably benign
Posted On2015-12-18