Incidental Mutation 'IGL02884:Ncaph2'
ID 362948
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 # IGL02884
Quality Score
Status
Chromosome 15
Chromosomal Location 89239922-89257029 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 89248447 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000086095 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036987] [ENSMUST00000074552] [ENSMUST00000088717] [ENSMUST00000145259]
AlphaFold Q8BSP2
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: 58,178,302 (GRCm39) I121V probably benign Het
Adprh C T 16: 38,266,396 (GRCm39) V249I probably benign Het
Akap11 A T 14: 78,736,402 (GRCm39) M1797K probably benign Het
Akap6 T A 12: 52,933,405 (GRCm39) I299N probably benign Het
Akr1c12 A T 13: 4,322,211 (GRCm39) M277K possibly damaging Het
Ankrd17 A T 5: 90,412,616 (GRCm39) M1236K probably damaging Het
Arhgef11 A G 3: 87,635,313 (GRCm39) D874G probably damaging Het
Atg4b T C 1: 93,715,437 (GRCm39) probably benign Het
Bcl9 G A 3: 97,117,368 (GRCm39) P442L probably damaging Het
Ccdc107 A T 4: 43,495,228 (GRCm39) K98* probably null Het
Cenpl A G 1: 160,913,619 (GRCm39) Q343R probably benign Het
Cep104 T C 4: 154,074,319 (GRCm39) C524R probably damaging Het
Clec3b C T 9: 122,985,827 (GRCm39) T75I probably benign Het
Col13a1 A T 10: 61,741,064 (GRCm39) probably benign Het
Crot C T 5: 9,028,197 (GRCm39) probably null Het
Ddo G A 10: 40,513,360 (GRCm39) V101I probably benign Het
Disp2 T C 2: 118,618,032 (GRCm39) probably benign Het
Dnmt3b A C 2: 153,516,297 (GRCm39) Y474S probably damaging Het
Dpp6 T A 5: 27,839,554 (GRCm39) N298K possibly damaging Het
Fbf1 C T 11: 116,037,339 (GRCm39) E940K probably damaging Het
Fgd6 A G 10: 93,881,501 (GRCm39) probably benign Het
H2-M10.2 T C 17: 36,595,568 (GRCm39) R241G probably damaging Het
Haghl A T 17: 26,002,072 (GRCm39) F207Y possibly damaging Het
Helt G A 8: 46,745,620 (GRCm39) R88C probably damaging Het
Igf2bp2 T C 16: 21,981,635 (GRCm39) K27E probably benign Het
Il1b T C 2: 129,207,022 (GRCm39) H246R probably benign Het
Itprid1 T C 6: 55,851,339 (GRCm39) probably null Het
Kcnu1 C T 8: 26,411,556 (GRCm39) S167L probably damaging Het
Kif16b A T 2: 142,544,534 (GRCm39) probably benign Het
Myh7 A T 14: 55,230,276 (GRCm39) S19T probably benign Het
Nlrp4c T C 7: 6,101,951 (GRCm39) L879P probably damaging Het
Nqo2 T A 13: 34,156,344 (GRCm39) N19K probably damaging Het
Or2r2 C T 6: 42,463,540 (GRCm39) V196M probably damaging Het
Osbpl1a C A 18: 12,952,635 (GRCm39) G93* probably null Het
Pdxdc1 A G 16: 13,661,659 (GRCm39) F459L possibly damaging Het
Phc2 A T 4: 128,601,809 (GRCm39) H88L probably damaging Het
Pkd1l2 G A 8: 117,792,484 (GRCm39) T436I probably benign Het
Ptchd4 A T 17: 42,813,340 (GRCm39) T414S possibly damaging Het
Rab7b A G 1: 131,626,280 (GRCm39) R103G probably damaging Het
Retnla A G 16: 48,662,943 (GRCm39) Y3C probably benign Het
Samd7 G A 3: 30,810,322 (GRCm39) R113H probably damaging Het
Shisa9 G A 16: 11,814,907 (GRCm39) probably benign Het
Soat1 A T 1: 156,268,926 (GRCm39) I208N possibly damaging Het
Stab1 C A 14: 30,872,100 (GRCm39) probably null Het
Tti2 C T 8: 31,641,505 (GRCm39) L210F possibly damaging Het
Ube2v2 A G 16: 15,374,349 (GRCm39) V77A probably benign Het
Ubr5 T C 15: 37,998,620 (GRCm39) E1617G probably damaging Het
Vmn2r16 T A 5: 109,508,757 (GRCm39) I495K possibly damaging Het
Vwce G T 19: 10,623,943 (GRCm39) R278L possibly damaging Het
Wdr26 C T 1: 181,010,349 (GRCm39) A551T probably damaging Het
Wee1 A G 7: 109,725,269 (GRCm39) I304V probably benign Het
Xrcc5 C T 1: 72,385,396 (GRCm39) H496Y possibly damaging Het
Zfp142 G T 1: 74,611,142 (GRCm39) S884R 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
IGL03369:Ncaph2 APN 15 89,247,858 (GRCm39) missense probably benign 0.43
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 2015-12-18