Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02679:Ncaph'

303283

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ncaph

Ensembl Gene

ENSMUSG00000034906

Gene Name

non-SMC condensin I complex, subunit H

Synonyms

Brrn1, A730011O11Rik, HCAP-H

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02679

Quality Score

Status

Chromosome

Chromosomal Location

126945729-126975857 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 126966784 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 223 (N223K)

Ref Sequence

ENSEMBL: ENSMUSP00000106017 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000110387]

AlphaFold

Q8C156

Predicted Effect

possibly damaging
Transcript: ENSMUST00000110387
AA Change: N223K

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000106017
Gene: ENSMUSG00000034906
AA Change: N223K

Domain	Start	End	E-Value	Type
Pfam:Cnd2	25	729	9e-160	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156625

Predicted Effect

probably benign
Transcript: ENSMUST00000175885

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177191

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930442H23Rik	T	A	10: 81,018,813 (GRCm39)		probably benign	Het
Adam5	A	T	8: 25,296,542 (GRCm39)	Y302N	probably damaging	Het
Ankrd34c	A	T	9: 89,612,132 (GRCm39)	Y70N	probably damaging	Het
Asph	G	A	4: 9,601,349 (GRCm39)	P190S	possibly damaging	Het
Atp6v1h	T	C	1: 5,194,525 (GRCm39)	C235R	probably damaging	Het
Brwd1	A	G	16: 95,804,023 (GRCm39)	L2049P	probably benign	Het
Capn2	T	A	1: 182,300,149 (GRCm39)	I614F	probably benign	Het
Ccdc126	T	A	6: 49,310,995 (GRCm39)	M1K	probably null	Het
Cdh9	T	C	15: 16,832,316 (GRCm39)	I401T	probably damaging	Het
Cep57l1	T	C	10: 41,605,382 (GRCm39)	E121G	probably damaging	Het
Cfap46	A	G	7: 139,194,386 (GRCm39)	I2276T	probably damaging	Het
Cnnm3	T	C	1: 36,559,239 (GRCm39)	S490P	probably benign	Het
D430041D05Rik	C	T	2: 104,060,650 (GRCm39)	V731I	possibly damaging	Het
Dynlt2b	T	C	16: 32,244,125 (GRCm39)	V107A	possibly damaging	Het
Fgf3	C	A	7: 144,394,487 (GRCm39)	N100K	probably damaging	Het
Gas7	G	A	11: 67,566,553 (GRCm39)		probably null	Het
Gfm1	C	T	3: 67,382,100 (GRCm39)	P725S	possibly damaging	Het
Gimap4	T	A	6: 48,667,429 (GRCm39)	C61*	probably null	Het
Greb1	C	T	12: 16,758,724 (GRCm39)	R664Q	probably damaging	Het
Kpnb1	T	A	11: 97,068,086 (GRCm39)	I295F	possibly damaging	Het
Lamc3	A	G	2: 31,835,410 (GRCm39)	E1577G	probably benign	Het
Lrrk1	C	T	7: 65,924,620 (GRCm39)	V235M	probably damaging	Het
Meak7	A	T	8: 120,499,149 (GRCm39)	D114E	probably benign	Het
Mipol1	T	A	12: 57,352,829 (GRCm39)	V56E	possibly damaging	Het
Mycbp2	T	C	14: 103,442,621 (GRCm39)	I1927V	probably benign	Het
Nipbl	A	G	15: 8,325,037 (GRCm39)	M2542T	probably benign	Het
Nolc1	C	A	19: 46,071,468 (GRCm39)		probably benign	Het
Or10j5	G	A	1: 172,784,743 (GRCm39)	C127Y	probably damaging	Het
Or51h1	A	G	7: 102,308,384 (GRCm39)	M119V	possibly damaging	Het
Pkhd1l1	T	C	15: 44,393,441 (GRCm39)		probably null	Het
Ppat	A	T	5: 77,067,316 (GRCm39)	C306S	probably benign	Het
Ptpn13	A	T	5: 103,717,320 (GRCm39)	M1821L	possibly damaging	Het
Rabl3	C	T	16: 37,362,287 (GRCm39)	S42L	probably damaging	Het
Rbm12	C	T	2: 155,937,480 (GRCm39)		probably benign	Het
Rfx3	G	A	19: 27,827,137 (GRCm39)	H150Y	possibly damaging	Het
Rngtt	A	G	4: 33,356,098 (GRCm39)	M312V	possibly damaging	Het
Slc10a2	T	A	8: 5,148,499 (GRCm39)	T149S	probably damaging	Het
Spata21	T	C	4: 140,838,576 (GRCm39)		probably benign	Het
Stx8	G	T	11: 67,860,598 (GRCm39)	W6C	probably damaging	Het
Tcn2	T	C	11: 3,877,504 (GRCm39)	E48G	possibly damaging	Het
Tecpr1	A	T	5: 144,143,364 (GRCm39)	N670K	probably benign	Het
Tmem255b	G	A	8: 13,507,055 (GRCm39)	M240I	probably benign	Het
Ubr4	G	A	4: 139,186,445 (GRCm39)	E651K	probably damaging	Het
Ubr5	T	C	15: 38,002,558 (GRCm39)	T1498A	probably benign	Het
Vmn2r95	G	A	17: 18,664,116 (GRCm39)	C445Y	probably damaging	Het
Zfp429	T	A	13: 67,547,855 (GRCm39)		probably benign	Het
Zfp804b	T	G	5: 6,821,392 (GRCm39)	D557A	possibly damaging	Het

Other mutations in Ncaph

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
R4957:Ncaph	UTSW	2	126,963,177 (GRCm39)	missense	possibly damaging	0.46
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

Posted On

2015-04-16