Mutagenetix > Incidental Mutation

Incidental Mutation 'R8701:Ncaph'

669036

Institutional Source

Beutler Lab

Gene Symbol

Ncaph

Ensembl Gene

ENSMUSG00000034906

Gene Name

non-SMC condensin I complex, subunit H

Synonyms

A730011O11Rik, HCAP-H, Brrn1

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8701 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

127103809-127133954 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 127106138 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 676 (K676E)

Ref Sequence

ENSEMBL: ENSMUSP00000106017 (fasta)

Gene Model

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

AlphaFold

Q8C156

Predicted Effect

probably benign
Transcript: ENSMUST00000110387
AA Change: K676E

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000106017
Gene: ENSMUSG00000034906
AA Change: K676E

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

Predicted Effect

probably benign
Transcript: ENSMUST00000175885

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931408C20Rik	A	T	1: 26,685,445	V218D	probably benign	Het
Abcc4	T	C	14: 118,599,373	I659V	probably benign	Het
Adamtsl4	T	A	3: 95,684,966	D24V	possibly damaging	Het
Agtr1b	A	T	3: 20,316,092	F117I	probably damaging	Het
Aldh3b2	A	G	19: 3,978,448	E116G	probably damaging	Het
Alox5	T	A	6: 116,413,826	I455F	possibly damaging	Het
Arnt	C	T	3: 95,493,765	S675F	possibly damaging	Het
C330027C09Rik	T	A	16: 49,007,141	Y456*	probably null	Het
Camkv	A	G	9: 107,948,041	T414A	possibly damaging	Het
Cd209c	C	T	8: 3,945,892	R6H	probably benign	Het
Cnr1	A	G	4: 33,944,739	I376V	probably benign	Het
Cyp2j12	T	A	4: 96,121,573	K183M	possibly damaging	Het
Dact3	G	T	7: 16,885,276	R232L	probably damaging	Het
Dlg5	G	A	14: 24,176,700	T378M	probably benign	Het
Dnah10	T	A	5: 124,726,847	D79E	probably benign	Het
Dsc1	A	T	18: 20,107,682	Y195*	probably null	Het
Elovl1	A	T	4: 118,430,510	M1L	probably benign	Het
Fam107a	A	G	14: 8,298,755	F124L	probably damaging	Het
Fam219a	A	G	4: 41,520,283	M155T	probably damaging	Het
Gm28308	C	G	6: 52,163,450		probably benign	Het
Gpr153	C	T	4: 152,279,101		probably benign	Het
Gtf2ird2	T	A	5: 134,216,235	I445N	probably damaging	Het
Gzmb	A	T	14: 56,260,360	V141E	probably benign	Het
Hmcn1	A	T	1: 150,755,257	M930K	probably benign	Het
Hunk	T	A	16: 90,386,610	F52Y	probably damaging	Het
Il18rap	A	G	1: 40,539,341	E304G	probably benign	Het
Klk14	A	G	7: 43,694,142	S133G	possibly damaging	Het
Man2b1	T	C	8: 85,095,153	S695P	probably damaging	Het
Mccc1	A	T	3: 35,995,784	D86E	probably benign	Het
Mcu	T	A	10: 59,467,653	I121F	probably damaging	Het
Mlxipl	T	C	5: 135,107,191	F90S	possibly damaging	Het
Muc2	A	G	7: 141,695,607	D536G	probably damaging	Het
Naa11	T	C	5: 97,391,958	S114G	possibly damaging	Het
Neurl2	C	T	2: 164,833,134	D103N	probably benign	Het
Nup210l	T	C	3: 90,122,814	M278T	probably benign	Het
Olfr1192-ps1	A	G	2: 88,652,487	I112V	possibly damaging	Het
Olfr550	A	T	7: 102,578,692	M66L	possibly damaging	Het
Olfr897-ps1	A	T	9: 38,309,438	L214F	unknown	Het
Olfr967	A	T	9: 39,750,914	H176L	probably damaging	Het
Olfr981	A	G	9: 40,022,519	N42S	probably damaging	Het
Pcdh20	A	T	14: 88,468,413	Y484N	possibly damaging	Het
Pkhd1l1	A	G	15: 44,574,683	Y3598C	probably damaging	Het
Plcg2	T	A	8: 117,581,677	L336Q	probably damaging	Het
Ppp1r8	T	C	4: 132,830,642	D207G	possibly damaging	Het
Prdm13	C	T	4: 21,678,615	C625Y	probably damaging	Het
Ptcd3	T	C	6: 71,885,511	D480G	possibly damaging	Het
Rbm39	T	A	2: 156,161,587	K291M	probably damaging	Het
Repin1	G	T	6: 48,597,345	E403*	probably null	Het
Rnf220	T	C	4: 117,489,993	H74R	probably damaging	Het
Sp6	A	T	11: 97,022,264	T268S	probably damaging	Het
Sphk2	A	T	7: 45,710,825	V585E	probably damaging	Het
Syne1	G	A	10: 5,205,026	Q5638*	probably null	Het
Tas1r3	C	T	4: 155,861,046	V573I	probably benign	Het
Tdrd1	T	C	19: 56,851,484	S659P	possibly damaging	Het
Tead4	T	A	6: 128,242,566	K237N	probably damaging	Het
Tex24	T	A	8: 27,345,124	C227S	probably benign	Het
Tom1	A	T	8: 75,052,168	T174S	probably benign	Het
Tpm3	C	T	3: 90,087,680	R168C	possibly damaging	Het
Trpv3	A	G	11: 73,278,936	E111G	possibly damaging	Het
Unc80	A	G	1: 66,638,032	D2040G	possibly damaging	Het
Usp47	A	G	7: 112,093,195	T955A	probably damaging	Het
Vmn2r11	G	A	5: 109,047,690	A590V	probably damaging	Het
Wisp2	G	T	2: 163,828,866	G98W	probably damaging	Het
Zfp112	A	G	7: 24,125,740	R382G	probably damaging	Het
Zfp606	T	A	7: 12,481,098	D84E	unknown	Het

Other mutations in Ncaph

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02556:Ncaph	APN	2	127126105	splice site	probably benign
IGL02619:Ncaph	APN	2	127127536	missense	probably damaging	0.99
IGL02674:Ncaph	APN	2	127113576	missense	probably damaging	0.98
IGL02679:Ncaph	APN	2	127124864	missense	possibly damaging	0.95
R2060:Ncaph	UTSW	2	127124875	missense	probably damaging	1.00
R3508:Ncaph	UTSW	2	127127193	missense	probably benign	0.33
R4283:Ncaph	UTSW	2	127121085	intron	probably benign
R4761:Ncaph	UTSW	2	127106116	missense	probably benign	0.07
R4957:Ncaph	UTSW	2	127121257	missense	possibly damaging	0.46
R5491:Ncaph	UTSW	2	127123675	missense	probably benign
R5942:Ncaph	UTSW	2	127116688	splice site	probably null
R6523:Ncaph	UTSW	2	127105889	missense	probably damaging	0.97
R7177:Ncaph	UTSW	2	127116586	missense	probably damaging	1.00
R7188:Ncaph	UTSW	2	127122114	missense	probably benign	0.09
R7467:Ncaph	UTSW	2	127133875	unclassified	probably benign
R7857:Ncaph	UTSW	2	127104245	missense	probably damaging	0.99
R8699:Ncaph	UTSW	2	127121176	missense	possibly damaging	0.83
R8843:Ncaph	UTSW	2	127108609	missense	probably benign
R9090:Ncaph	UTSW	2	127116634	missense	probably damaging	0.99
R9271:Ncaph	UTSW	2	127116634	missense	probably damaging	0.99
X0021:Ncaph	UTSW	2	127127138	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGAGGTTCTGAGCCATGAGC -3'
(R):5'- AGACCCATCCTTAAGGTCTCCAG -3'

Sequencing Primer
(F):5'- TGAGTAGGTCAGGCAACCC -3'
(R):5'- GGTCTCCAGAGAATTTAACTTTGC -3'

Posted On

2021-04-30