Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02550:Ncaph2'

298038

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 #

IGL02550

Quality Score

Status

Chromosome

Chromosomal Location

89239922-89257029 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 89254064 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 344 (K344*)

Ref Sequence

ENSEMBL: ENSMUSP00000086095 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023285] [ENSMUST00000036987] [ENSMUST00000074552] [ENSMUST00000088717] [ENSMUST00000145259] [ENSMUST00000167643] [ENSMUST00000228977]

AlphaFold

Q8BSP2

Predicted Effect

probably benign
Transcript: ENSMUST00000023285

SMART Domains

Protein: ENSMUSP00000023285
Gene: ENSMUSG00000022615

Domain	Start	End	E-Value	Type
low complexity region	2	17	N/A	INTRINSIC
Pfam:Glycos_trans_3N	23	85	1.5e-20	PFAM
Pfam:Glycos_transf_3	95	326	3.1e-50	PFAM
PYNP_C	374	448	6.46e-14	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000036987
AA Change: K313*

SMART Domains

Protein: ENSMUSP00000036900
Gene: ENSMUSG00000008690
AA Change: K313*

Domain	Start	End	E-Value	Type
Pfam:DUF1032	20	576	N/A	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000074552
AA Change: K344*

SMART Domains

Protein: ENSMUSP00000074139
Gene: ENSMUSG00000008690
AA Change: K344*

Domain	Start	End	E-Value	Type
Pfam:DUF1032	51	607	N/A	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000088717
AA Change: K344*

SMART Domains

Protein: ENSMUSP00000086095
Gene: ENSMUSG00000008690
AA Change: K344*

Domain	Start	End	E-Value	Type
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: ENSMUST00000134900

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136638

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140665

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147207

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145793

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147733

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151523

Predicted Effect

probably benign
Transcript: ENSMUST00000145259

Predicted Effect

probably benign
Transcript: ENSMUST00000167643

SMART Domains

Protein: ENSMUSP00000131943
Gene: ENSMUSG00000091780

Domain	Start	End	E-Value	Type
Pfam:SCO1-SenC	52	234	1.4e-47	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000228977

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadl	A	G	1: 66,884,325 (GRCm39)		probably null	Het
Acer3	G	A	7: 97,873,185 (GRCm39)	T171I	probably benign	Het
Acsm2	C	T	7: 119,172,507 (GRCm39)	P117S	probably damaging	Het
Anxa2	A	G	9: 69,374,588 (GRCm39)	S22G	probably benign	Het
Arrb2	T	C	11: 70,327,696 (GRCm39)	I120T	probably damaging	Het
Atp11a	G	T	8: 12,866,997 (GRCm39)	K141N	possibly damaging	Het
Casd1	T	C	6: 4,642,009 (GRCm39)	V762A	probably benign	Het
Ccdc61	A	T	7: 18,627,227 (GRCm39)	S48T	probably benign	Het
Cntn2	T	C	1: 132,456,801 (GRCm39)	M82V	probably null	Het
Cobll1	A	G	2: 64,938,207 (GRCm39)	S359P	probably damaging	Het
Ctnnbl1	C	A	2: 157,726,055 (GRCm39)	D465E	probably benign	Het
Def6	A	T	17: 28,447,235 (GRCm39)	E622V	probably benign	Het
Dmgdh	T	C	13: 93,854,083 (GRCm39)	Y678H	probably damaging	Het
Dock9	A	T	14: 121,935,724 (GRCm39)	M1K	probably null	Het
Esyt1	T	C	10: 128,357,962 (GRCm39)	K216E	probably damaging	Het
Fhod3	A	G	18: 25,156,017 (GRCm39)	D545G	probably benign	Het
Galnt12	A	T	4: 47,104,126 (GRCm39)	D128V	possibly damaging	Het
Gm1110	C	T	9: 26,793,130 (GRCm39)	V549I	probably benign	Het
Gm7361	A	G	5: 26,466,120 (GRCm39)	I161V	possibly damaging	Het
Gsn	T	C	2: 35,172,619 (GRCm39)		probably benign	Het
Gvin3	A	T	7: 106,200,846 (GRCm39)		noncoding transcript	Het
Il16	T	A	7: 83,323,704 (GRCm39)	Q282L	possibly damaging	Het
Il3ra	A	G	14: 14,348,055 (GRCm38)	D67G	probably benign	Het
Insrr	T	C	3: 87,711,805 (GRCm39)	L515P	probably damaging	Het
Jhy	A	G	9: 40,828,466 (GRCm39)	F480S	probably benign	Het
Klc4	C	A	17: 46,947,836 (GRCm39)		probably null	Het
Klhl12	G	T	1: 134,395,443 (GRCm39)	C135F	possibly damaging	Het
Ly6m	T	G	15: 74,752,604 (GRCm39)	H24P	probably damaging	Het
Mboat7	G	T	7: 3,686,905 (GRCm39)		probably null	Het
Myo1f	G	A	17: 33,807,116 (GRCm39)	D522N	probably damaging	Het
Myo1f	A	G	17: 33,799,124 (GRCm39)		probably benign	Het
Nbea	C	A	3: 55,926,835 (GRCm39)	M789I	probably damaging	Het
Ncapd2	T	C	6: 125,154,410 (GRCm39)	D602G	probably benign	Het
Nek2	A	G	1: 191,554,371 (GRCm39)	Y70C	probably damaging	Het
Or2t1	T	C	14: 14,328,423 (GRCm38)	L104P	possibly damaging	Het
Or4k35	T	A	2: 111,100,349 (GRCm39)	D121V	probably damaging	Het
Or4k37	T	C	2: 111,158,845 (GRCm39)	L27P	probably damaging	Het
Or5ak22	G	A	2: 85,230,166 (GRCm39)	A237V	probably damaging	Het
Or7e166	C	A	9: 19,624,343 (GRCm39)	F73L	possibly damaging	Het
Or8g35	T	A	9: 39,381,842 (GRCm39)	Y60F	probably benign	Het
Plcb3	T	A	19: 6,937,544 (GRCm39)	K625*	probably null	Het
Plrg1	T	C	3: 82,968,430 (GRCm39)		probably null	Het
Ptpn12	A	G	5: 21,203,137 (GRCm39)	V547A	probably benign	Het
Ralgapb	A	G	2: 158,290,331 (GRCm39)	D748G	probably damaging	Het
Rcbtb2	A	G	14: 73,399,459 (GRCm39)	E41G	probably damaging	Het
Rela	G	T	19: 5,691,534 (GRCm39)	R236L	possibly damaging	Het
Rps6kc1	A	G	1: 190,604,059 (GRCm39)	S188P	probably damaging	Het
Sipa1l1	A	T	12: 82,487,723 (GRCm39)	K1666*	probably null	Het
Slco1a1	C	T	6: 141,889,191 (GRCm39)	M40I	probably benign	Het
Smarca4	C	A	9: 21,597,418 (GRCm39)	P1391Q	probably benign	Het
Stra6	A	G	9: 58,057,366 (GRCm39)	N392S	possibly damaging	Het
Syt4	A	G	18: 31,577,246 (GRCm39)	I36T	probably damaging	Het
Tgfbr2	A	T	9: 115,939,197 (GRCm39)	M235K	probably benign	Het
Tmem87a	T	A	2: 120,204,966 (GRCm39)		probably null	Het
Tmf1	T	C	6: 97,135,522 (GRCm39)	D918G	probably benign	Het
Tnfaip2	A	G	12: 111,412,535 (GRCm39)	Y312C	probably damaging	Het
Usp47	C	T	7: 111,703,561 (GRCm39)	R1178C	probably damaging	Het
Vmn2r95	T	A	17: 18,671,994 (GRCm39)	I577N	probably damaging	Het
Vps13b	T	C	15: 35,572,242 (GRCm39)	V953A	probably benign	Het
Wasl	A	G	6: 24,633,883 (GRCm39)	F127S	probably damaging	Het
Wdr1	C	T	5: 38,698,206 (GRCm39)	V192I	probably damaging	Het
Wnt9a	C	T	11: 59,221,744 (GRCm39)	T214I	probably damaging	Het
Xpo5	A	G	17: 46,540,255 (GRCm39)	D693G	probably benign	Het
Zan	A	G	5: 137,385,301 (GRCm39)	L5044P	unknown	Het
Zhx3	T	C	2: 160,623,216 (GRCm39)	N317S	probably damaging	Het

Other mutations in Ncaph2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
IGL02884:Ncaph2	APN	15	89,248,447 (GRCm39)	critical splice donor site	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

2015-04-16