Mutagenetix > Incidental Mutation

Incidental Mutation 'R4957:Ncaph'

381628

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

042554-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4957 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

127103809-127133954 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 127121257 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 352 (D352G)

Ref Sequence

ENSEMBL: ENSMUSP00000106017 (fasta)

Gene Model

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

AlphaFold

Q8C156

Predicted Effect

possibly damaging
Transcript: ENSMUST00000110387
AA Change: D352G

PolyPhen 2 Score 0.456 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000106017
Gene: ENSMUSG00000034906
AA Change: D352G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146142

Predicted Effect

probably benign
Transcript: ENSMUST00000175885

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177191

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.5%

Validation Efficiency

99% (80/81)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110009E18Rik	G	C	1: 120,169,110		probably benign	Het
3110009E18Rik	G	T	1: 120,169,119		probably benign	Het
3110009E18Rik	C	T	1: 120,169,120		probably benign	Het
6820408C15Rik	T	A	2: 152,444,093	V342D	probably damaging	Het
Arhgap33	C	T	7: 30,532,361	G101R	probably damaging	Het
Atf7ip	C	T	6: 136,606,810	R1280C	probably damaging	Het
Cacnb4	T	C	2: 52,558,291	H8R	probably damaging	Het
Ccdc150	T	A	1: 54,364,868		probably benign	Het
Cd163l1	T	C	7: 140,228,522	V782A	probably damaging	Het
Cd74	A	G	18: 60,809,037	N113D	probably benign	Het
Cdc25b	T	C	2: 131,193,605	V341A	possibly damaging	Het
Clptm1l	T	A	13: 73,611,196	I245N	possibly damaging	Het
Clptm1l	T	C	13: 73,612,428	I310T	probably damaging	Het
Creb5	A	T	6: 53,693,922		probably null	Het
Crebbp	T	C	16: 4,117,367	Q460R	probably benign	Het
Dnah17	A	T	11: 118,074,298	I2306N	probably benign	Het
Dync1h1	C	A	12: 110,658,126	T3700N	probably damaging	Het
Elovl1	A	T	4: 118,431,923	H215L	probably damaging	Het
Enkd1	A	G	8: 105,704,489	I202T	probably benign	Het
Epha7	C	T	4: 28,871,892	A407V	probably damaging	Het
Ercc3	G	T	18: 32,243,117	G130W	probably damaging	Het
Fbxl8	A	G	8: 105,268,195	E113G	probably damaging	Het
Frmpd1	T	G	4: 45,273,099	N339K	probably damaging	Het
Frrs1	G	A	3: 116,885,248	D240N	probably benign	Het
Gemin2	A	G	12: 59,017,168	S105G	probably benign	Het
Glra1	T	A	11: 55,527,398	I257F	probably damaging	Het
Gmcl1	G	A	6: 86,710,521	P354S	probably damaging	Het
Gpr15	G	T	16: 58,718,174	A184E	probably damaging	Het
Grm7	G	A	6: 111,358,863	G745E	probably damaging	Het
H2-T10	T	A	17: 36,117,416		probably benign	Het
Hdac5	C	A	11: 102,205,256		probably benign	Het
Ift22	G	A	5: 136,908,216		probably benign	Het
Ighg3	T	C	12: 113,361,130	E34G	unknown	Het
Itga11	A	T	9: 62,767,648	T821S	probably benign	Het
Lmod2	T	C	6: 24,603,872	V282A	possibly damaging	Het
Maml2	A	G	9: 13,620,276	K262R	probably damaging	Het
Mme	T	A	3: 63,343,489		probably benign	Het
Mnat1	A	G	12: 73,123,878	Y14C	probably damaging	Het
Mtdh	A	T	15: 34,083,135	T34S	possibly damaging	Het
Olfr1014	T	C	2: 85,777,115	F177S	probably damaging	Het
Olfr1036	T	A	2: 86,075,510	Y257N	probably damaging	Het
Olfr1293-ps	C	A	2: 111,528,224	N321K	probably benign	Het
Olfr224	A	G	11: 58,566,518	Y276H	probably damaging	Het
Pcdhb13	T	A	18: 37,444,784	D738E	possibly damaging	Het
Pla2g4f	C	T	2: 120,300,499	R825Q	probably benign	Het
Pnliprp2	C	T	19: 58,775,145	L409F	possibly damaging	Het
Prlr	G	T	15: 10,319,195	C70F	probably damaging	Het
Ptpn14	C	T	1: 189,851,272	T772I	probably benign	Het
Ryr2	T	C	13: 11,785,080	Q927R	probably damaging	Het
Scarf1	A	G	11: 75,525,634	E634G	probably benign	Het
Slc39a14	A	T	14: 70,315,811	S158R	probably damaging	Het
Slc9c1	A	T	16: 45,544,831	T176S	probably benign	Het
Srsf10	T	C	4: 135,856,230	S2P	probably damaging	Het
Tcam1	T	A	11: 106,282,879	C50S	probably damaging	Het
Tcf7l2	A	G	19: 55,931,432		probably null	Het
Tdrd3	T	A	14: 87,505,787	H390Q	probably benign	Het
Tlk2	T	C	11: 105,253,359		probably null	Het
Tnc	G	C	4: 63,976,556	P1531R	probably damaging	Het
Tnfrsf1b	C	A	4: 145,246,757	Q15H	probably damaging	Het
Tnfrsf1b	T	G	4: 145,246,758	Q15P	possibly damaging	Het
Tssk4	A	T	14: 55,651,809	E264V	probably damaging	Het
Ttc37	T	G	13: 76,185,113		probably null	Het
Ugt3a2	G	A	15: 9,365,188	V296I	probably benign	Het
Usp5	C	G	6: 124,822,630	K318N	possibly damaging	Het
Vmn2r8	T	G	5: 108,799,263	E541A	probably benign	Het
Ybx1	A	T	4: 119,278,938		probably benign	Het
Zfp39	T	A	11: 58,891,231	Y235F	possibly damaging	Het
Zfp422	T	A	6: 116,626,943	K32*	probably null	Het
Zpbp2	T	A	11: 98,551,324		probably null	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
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
R8701:Ncaph	UTSW	2	127106138	missense	probably benign	0.13
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'- GGCCTATTTAGAAACCTTCTGGG -3'
(R):5'- GCAACCTGCACTGCACAATG -3'

Sequencing Primer
(F):5'- ATTTAGAAACCTTCTGGGACCCCG -3'
(R):5'- ATGTAAACTTCCTCCTGACAGCG -3'

Posted On

2016-04-27