Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00960:Ncapd2'

27681

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ncapd2

Ensembl Gene

ENSMUSG00000038252

Gene Name

non-SMC condensin I complex, subunit D2

Synonyms

2810406C15Rik, CAP-D2, CNAP1, 2810465G24Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.971) question?

Stock #

IGL00960

Quality Score

Status

Chromosome

Chromosomal Location

125144970-125168664 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 125150811 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 795 (S795T)

Ref Sequence

ENSEMBL: ENSMUSP00000042260 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043848]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000043848
AA Change: S795T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000042260
Gene: ENSMUSG00000038252
AA Change: S795T

Domain	Start	End	E-Value	Type
Pfam:Cnd1_N	75	240	1.4e-41	PFAM
low complexity region	461	472	N/A	INTRINSIC
low complexity region	936	949	N/A	INTRINSIC
Pfam:Cnd1	1058	1224	2.5e-65	PFAM
low complexity region	1329	1345	N/A	INTRINSIC
low complexity region	1357	1369	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185624

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186561

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186667

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188119

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188306

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188410

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188665

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189706

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191080

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc10	C	A	17: 46,634,671 (GRCm39)	R444L	probably damaging	Het
Baiap2	T	A	11: 119,890,118 (GRCm39)	S460T	possibly damaging	Het
Cckar	A	G	5: 53,858,634 (GRCm39)	Y158H	probably damaging	Het
Cdk4	A	G	10: 126,900,166 (GRCm39)	Y21C	probably damaging	Het
Entpd1	C	T	19: 40,699,714 (GRCm39)	P42S	probably benign	Het
Epha8	A	T	4: 136,679,150 (GRCm39)		probably null	Het
Fastkd1	A	T	2: 69,524,997 (GRCm39)		probably benign	Het
Fmnl2	A	G	2: 53,013,494 (GRCm39)	D951G	probably damaging	Het
Hnrnpm	C	A	17: 33,868,876 (GRCm39)	R517L	probably damaging	Het
Kcnj5	T	A	9: 32,233,719 (GRCm39)	T199S	probably damaging	Het
Med13	T	C	11: 86,181,866 (GRCm39)		probably benign	Het
Mycbp2	G	T	14: 103,466,820 (GRCm39)	H1314Q	possibly damaging	Het
Nf1	T	C	11: 79,335,947 (GRCm39)	S1042P	probably damaging	Het
Nlgn1	C	A	3: 25,966,861 (GRCm39)	L197F	probably damaging	Het
Nsun7	A	G	5: 66,446,846 (GRCm39)	Y428C	probably benign	Het
Or10d5j	A	G	9: 39,867,455 (GRCm39)	Y259H	probably damaging	Het
Parp14	T	C	16: 35,661,589 (GRCm39)	D1453G	probably benign	Het
Pcdhb8	A	T	18: 37,489,026 (GRCm39)	I235F	probably benign	Het
Pclo	T	C	5: 14,725,234 (GRCm39)	V1364A	unknown	Het
Polq	T	C	16: 36,880,874 (GRCm39)	S734P	probably damaging	Het
Sco1	T	C	11: 66,954,864 (GRCm39)	*290Q	probably null	Het
Slc22a3	A	T	17: 12,644,497 (GRCm39)	I496N	probably damaging	Het
Slc5a8	T	G	10: 88,757,627 (GRCm39)	I539S	probably benign	Het
Tecta	A	G	9: 42,270,376 (GRCm39)	F1311L	possibly damaging	Het
Tex261	A	T	6: 83,752,650 (GRCm39)	I19N	possibly damaging	Het
Tfr2	T	C	5: 137,569,954 (GRCm39)	V120A	probably benign	Het
Vmn2r71	A	T	7: 85,273,582 (GRCm39)	S799C	probably damaging	Het
Zar1	G	A	5: 72,734,628 (GRCm39)	T197I	probably damaging	Het
Zfa-ps	A	G	10: 52,420,043 (GRCm39)		noncoding transcript	Het

Other mutations in Ncapd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00477:Ncapd2	APN	6	125,150,388 (GRCm39)	missense	probably benign	0.05
IGL01307:Ncapd2	APN	6	125,145,582 (GRCm39)	missense	possibly damaging	0.56
IGL01612:Ncapd2	APN	6	125,154,835 (GRCm39)	missense	probably benign	0.01
IGL01903:Ncapd2	APN	6	125,154,423 (GRCm39)	missense	probably benign
IGL01987:Ncapd2	APN	6	125,162,804 (GRCm39)	splice site	probably benign
IGL01998:Ncapd2	APN	6	125,146,896 (GRCm39)	missense	probably damaging	1.00
IGL01998:Ncapd2	APN	6	125,150,078 (GRCm39)	missense	probably benign	0.18
IGL02329:Ncapd2	APN	6	125,166,781 (GRCm39)	missense	probably damaging	0.99
IGL02550:Ncapd2	APN	6	125,154,410 (GRCm39)	missense	probably benign
IGL02662:Ncapd2	APN	6	125,153,694 (GRCm39)	missense	probably damaging	1.00
IGL02817:Ncapd2	APN	6	125,147,877 (GRCm39)	critical splice donor site	probably null
IGL03121:Ncapd2	APN	6	125,150,575 (GRCm39)	missense	probably benign	0.00
IGL03206:Ncapd2	APN	6	125,148,660 (GRCm39)	missense	possibly damaging	0.85
FR4548:Ncapd2	UTSW	6	125,150,559 (GRCm39)	critical splice donor site	probably benign
PIT4305001:Ncapd2	UTSW	6	125,160,990 (GRCm39)	nonsense	probably null
R0486:Ncapd2	UTSW	6	125,160,990 (GRCm39)	nonsense	probably null
R0635:Ncapd2	UTSW	6	125,149,999 (GRCm39)	missense	probably benign	0.00
R0699:Ncapd2	UTSW	6	125,146,843 (GRCm39)	missense	probably benign
R0746:Ncapd2	UTSW	6	125,151,227 (GRCm39)	missense	possibly damaging	0.50
R0893:Ncapd2	UTSW	6	125,150,445 (GRCm39)	missense	probably benign
R1385:Ncapd2	UTSW	6	125,150,078 (GRCm39)	missense	probably benign	0.18
R1513:Ncapd2	UTSW	6	125,147,955 (GRCm39)	missense	probably damaging	1.00
R1601:Ncapd2	UTSW	6	125,162,735 (GRCm39)	missense	probably damaging	1.00
R1698:Ncapd2	UTSW	6	125,145,553 (GRCm39)	missense	probably null	0.39
R2030:Ncapd2	UTSW	6	125,153,678 (GRCm39)	missense	possibly damaging	0.95
R2035:Ncapd2	UTSW	6	125,161,491 (GRCm39)	missense	probably benign	0.17
R2359:Ncapd2	UTSW	6	125,156,379 (GRCm39)	unclassified	probably benign
R3951:Ncapd2	UTSW	6	125,163,747 (GRCm39)	missense	probably damaging	0.98
R3952:Ncapd2	UTSW	6	125,163,747 (GRCm39)	missense	probably damaging	0.98
R3953:Ncapd2	UTSW	6	125,147,697 (GRCm39)	missense	probably damaging	0.96
R4623:Ncapd2	UTSW	6	125,150,572 (GRCm39)	missense	probably benign	0.04
R4630:Ncapd2	UTSW	6	125,156,196 (GRCm39)	splice site	probably null
R4667:Ncapd2	UTSW	6	125,161,481 (GRCm39)	missense	possibly damaging	0.69
R4769:Ncapd2	UTSW	6	125,162,708 (GRCm39)	missense	probably damaging	1.00
R4936:Ncapd2	UTSW	6	125,146,803 (GRCm39)	missense	probably benign	0.18
R5130:Ncapd2	UTSW	6	125,146,887 (GRCm39)	missense	possibly damaging	0.90
R5465:Ncapd2	UTSW	6	125,153,746 (GRCm39)	missense	probably damaging	0.98
R5806:Ncapd2	UTSW	6	125,158,117 (GRCm39)	missense	probably damaging	0.98
R5823:Ncapd2	UTSW	6	125,145,663 (GRCm39)	missense	probably benign	0.00
R5888:Ncapd2	UTSW	6	125,164,052 (GRCm39)	missense	probably damaging	1.00
R5940:Ncapd2	UTSW	6	125,145,832 (GRCm39)	missense	probably benign
R6198:Ncapd2	UTSW	6	125,156,286 (GRCm39)	nonsense	probably null
R6406:Ncapd2	UTSW	6	125,150,841 (GRCm39)	missense	probably benign
R6652:Ncapd2	UTSW	6	125,163,233 (GRCm39)	missense	probably benign	0.13
R6959:Ncapd2	UTSW	6	125,145,883 (GRCm39)	missense	probably benign
R6977:Ncapd2	UTSW	6	125,148,472 (GRCm39)	missense	probably damaging	1.00
R6982:Ncapd2	UTSW	6	125,153,699 (GRCm39)	missense	probably damaging	0.96
R7143:Ncapd2	UTSW	6	125,156,524 (GRCm39)	missense	probably benign
R7144:Ncapd2	UTSW	6	125,153,633 (GRCm39)	missense	probably benign	0.11
R7186:Ncapd2	UTSW	6	125,163,119 (GRCm39)	missense	possibly damaging	0.89
R7203:Ncapd2	UTSW	6	125,161,291 (GRCm39)	missense	possibly damaging	0.58
R7384:Ncapd2	UTSW	6	125,150,364 (GRCm39)	missense	probably benign
R8039:Ncapd2	UTSW	6	125,157,989 (GRCm39)	missense	probably damaging	0.98
R8047:Ncapd2	UTSW	6	125,166,762 (GRCm39)	missense	probably damaging	0.98
R8048:Ncapd2	UTSW	6	125,156,661 (GRCm39)	nonsense	probably null
R8056:Ncapd2	UTSW	6	125,148,006 (GRCm39)	missense	probably damaging	1.00
R8097:Ncapd2	UTSW	6	125,145,945 (GRCm39)	missense	possibly damaging	0.78
R8489:Ncapd2	UTSW	6	125,150,745 (GRCm39)	missense	probably damaging	0.98
R8496:Ncapd2	UTSW	6	125,147,127 (GRCm39)	missense	probably damaging	0.99
R8755:Ncapd2	UTSW	6	125,148,817 (GRCm39)	missense	possibly damaging	0.69
R8776:Ncapd2	UTSW	6	125,154,476 (GRCm39)	missense	probably benign
R8776-TAIL:Ncapd2	UTSW	6	125,154,476 (GRCm39)	missense	probably benign
R9015:Ncapd2	UTSW	6	125,145,285 (GRCm39)	unclassified	probably benign
R9042:Ncapd2	UTSW	6	125,156,301 (GRCm39)	missense	probably benign
R9358:Ncapd2	UTSW	6	125,163,106 (GRCm39)	missense	probably benign	0.00
R9437:Ncapd2	UTSW	6	125,153,655 (GRCm39)	missense	probably damaging	0.99
RF045:Ncapd2	UTSW	6	125,156,199 (GRCm39)	frame shift	probably null

Posted On

2013-04-17