Mutagenetix > Incidental Mutation

Incidental Mutation 'R6523:Ncaph'

521460

Institutional Source

Beutler Lab

Gene Symbol

Ncaph

Ensembl Gene

ENSMUSG00000034906

Gene Name

non-SMC condensin I complex, subunit H

Synonyms

Brrn1, A730011O11Rik, HCAP-H

MMRRC Submission

044649-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6523 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

126945729-126975857 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 126947809 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 698 (I698K)

Ref Sequence

ENSEMBL: ENSMUSP00000106017 (fasta)

Gene Model

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

AlphaFold

Q8C156

Predicted Effect

probably damaging
Transcript: ENSMUST00000110387
AA Change: I698K

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000106017
Gene: ENSMUSG00000034906
AA Change: I698K

Domain	Start	End	E-Value	Type
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

Meta Mutation Damage Score

0.8522

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.3%

Validation Efficiency

97% (68/70)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ackr1	A	G	1: 173,160,120 (GRCm39)		probably null	Het
Alg2	A	T	4: 47,472,071 (GRCm39)	S246T	possibly damaging	Het
Ankfy1	G	A	11: 72,621,308 (GRCm39)	R198Q	possibly damaging	Het
Arid4a	A	G	12: 71,114,115 (GRCm39)		probably null	Het
AU040320	G	A	4: 126,762,553 (GRCm39)		probably null	Het
B430306N03Rik	A	G	17: 48,626,193 (GRCm39)	T129A	possibly damaging	Het
Blvrb	C	A	7: 27,165,142 (GRCm39)		probably null	Het
Ccdc175	T	C	12: 72,191,565 (GRCm39)	N337S	probably benign	Het
Ccdc28b	A	C	4: 129,514,780 (GRCm39)	F110V	probably damaging	Het
Cd200	A	G	16: 45,220,633 (GRCm39)	Y16H	probably benign	Het
Cfh	T	G	1: 140,029,445 (GRCm39)	E950A	possibly damaging	Het
Clec3a	A	T	8: 115,152,345 (GRCm39)	Y117F	probably damaging	Het
CN725425	A	G	15: 91,115,784 (GRCm39)	S9G	probably benign	Het
Coasy	T	A	11: 100,976,944 (GRCm39)	W535R	probably damaging	Het
Cox4i1	T	A	8: 121,399,480 (GRCm39)	S30R	probably benign	Het
Csnk1a1	G	A	18: 61,688,829 (GRCm39)	S3N	probably benign	Het
Dcst2	C	G	3: 89,280,808 (GRCm39)	L669V	probably benign	Het
Dnah14	A	G	1: 181,471,186 (GRCm39)	I1346V	probably benign	Het
Fbxw24	G	A	9: 109,434,048 (GRCm39)	R421*	probably null	Het
Fstl5	G	A	3: 76,443,641 (GRCm39)	V329I	probably benign	Het
Gli3	T	C	13: 15,888,235 (GRCm39)		probably null	Het
Gna11	A	T	10: 81,380,688 (GRCm39)	I25N	probably damaging	Het
Greb1	C	T	12: 16,734,374 (GRCm39)	V1539I	possibly damaging	Het
Hipk3	T	A	2: 104,269,753 (GRCm39)	T479S	possibly damaging	Het
Hspa1b	A	G	17: 35,176,167 (GRCm39)	I606T	probably benign	Het
Idnk	T	A	13: 58,311,457 (GRCm39)	F141L	probably damaging	Het
Ifit3	A	G	19: 34,565,555 (GRCm39)	N367S	probably benign	Het
Kcnn1	A	T	8: 71,299,169 (GRCm39)	D448E	possibly damaging	Het
Krt14	T	C	11: 100,095,923 (GRCm39)	T212A	possibly damaging	Het
Ldlr	G	A	9: 21,648,549 (GRCm39)	C285Y	probably damaging	Het
Mark3	G	A	12: 111,593,669 (GRCm39)	V234I	probably damaging	Het
Meikin	T	A	11: 54,289,327 (GRCm39)	Y233*	probably null	Het
Mtcl2	G	A	2: 156,902,263 (GRCm39)	Q251*	probably null	Het
Muc20	T	C	16: 32,613,820 (GRCm39)	D519G	possibly damaging	Het
Nalcn	T	A	14: 123,555,255 (GRCm39)	H876L	probably benign	Het
Nipal1	A	T	5: 72,824,951 (GRCm39)	I215F	probably damaging	Het
Nrde2	A	T	12: 100,100,664 (GRCm39)	D607E	possibly damaging	Het
Nt5dc2	T	C	14: 30,857,662 (GRCm39)	F217S	probably damaging	Het
Ntsr2	T	A	12: 16,706,697 (GRCm39)	S156T	probably benign	Het
Or13c9	A	T	4: 52,935,500 (GRCm39)	I261N	probably damaging	Het
Or5b110-ps1	A	C	19: 13,259,728 (GRCm39)	D231E	probably benign	Het
Or5p4	A	C	7: 107,680,762 (GRCm39)	T254P	probably benign	Het
Pfas	A	T	11: 68,881,283 (GRCm39)	I1028K	probably benign	Het
Pnpla5	C	A	15: 83,999,912 (GRCm39)	R329L	possibly damaging	Het
Pramel30	T	C	4: 144,058,218 (GRCm39)	V275A	probably benign	Het
Rhot2	A	G	17: 26,058,394 (GRCm39)	V393A	possibly damaging	Het
Rigi	T	A	4: 40,205,947 (GRCm39)	T882S	probably benign	Het
Rnase9	T	A	14: 51,276,684 (GRCm39)	Y98F	possibly damaging	Het
Sacs	C	A	14: 61,440,410 (GRCm39)	L819I	probably damaging	Het
Sall3	C	T	18: 81,016,403 (GRCm39)	M508I	possibly damaging	Het
Scube3	G	A	17: 28,381,362 (GRCm39)	C301Y	probably damaging	Het
Sgo2b	G	T	8: 64,380,538 (GRCm39)	H765N	probably benign	Het
Sh3gl1	A	T	17: 56,324,617 (GRCm39)	Y344N	possibly damaging	Het
Slc15a2	A	G	16: 36,572,683 (GRCm39)	V635A	probably benign	Het
Slc1a4	T	A	11: 20,282,114 (GRCm39)	Y40F	probably damaging	Het
Slc4a10	A	T	2: 62,117,305 (GRCm39)	K755*	probably null	Het
Slco1a5	C	T	6: 142,212,121 (GRCm39)	G38R	probably damaging	Het
Snx25	T	A	8: 46,508,892 (GRCm39)	D564V	probably damaging	Het
Spon1	T	A	7: 113,486,018 (GRCm39)	D189E	probably benign	Het
Sptbn5	T	C	2: 119,896,095 (GRCm39)		probably null	Het
Ssbp2	A	G	13: 91,841,170 (GRCm39)	I317V	probably benign	Het
Stil	AAGATTTCCAG	A	4: 114,889,911 (GRCm39)		probably null	Het
Strn3	A	T	12: 51,689,881 (GRCm39)		probably null	Het
Tcaf2	A	T	6: 42,619,953 (GRCm39)	F25I	probably benign	Het
Themis	C	T	10: 28,657,894 (GRCm39)	T154I	possibly damaging	Het
Ttn	T	C	2: 76,626,390 (GRCm39)	R13176G	probably damaging	Het
Utp4	G	A	8: 107,625,095 (GRCm39)	V125M	probably damaging	Het
Vmn1r119	T	A	7: 20,745,777 (GRCm39)	M202L	possibly damaging	Het
Zfp292	G	C	4: 34,816,301 (GRCm39)	F329L	probably benign	Het
Zfp541	C	T	7: 15,829,445 (GRCm39)	P1281L	probably damaging	Het
Zfp616	A	T	11: 73,973,968 (GRCm39)	Q79L	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
IGL02679:Ncaph	APN	2	126,966,784 (GRCm39)	missense	possibly damaging	0.95
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
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

Predicted Primers

PCR Primer
(F):5'- TGCTCGATAAGGATGCTGGG -3'
(R):5'- ACCTGCAGACAAGGTGTGTG -3'

Sequencing Primer
(F):5'- CTCGATAAGGATGCTGGGGACTG -3'
(R):5'- ACAAGGTGTGTGCTGATAGAC -3'

Posted On

2018-06-06