Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03121:Ncapd2'

409989

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 #

IGL03121

Quality Score

Status

Chromosome

Chromosomal Location

125144970-125168664 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 125150575 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Arginine at position 842 (M842R)

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: M842R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000042260
Gene: ENSMUSG00000038252
AA Change: M842R

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: ENSMUST00000189706

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191080

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188665

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B09Rik	A	G	9: 14,672,946 (GRCm39)	S4P	possibly damaging	Het
A2m	A	G	6: 121,618,265 (GRCm39)	N186S	probably benign	Het
Afg2a	T	C	3: 37,518,800 (GRCm39)	I778T	probably damaging	Het
Ago1	T	C	4: 126,353,796 (GRCm39)	K261R	probably benign	Het
Alas1	G	A	9: 106,124,113 (GRCm39)	P15L	probably damaging	Het
Aox1	G	A	1: 58,398,113 (GRCm39)	V1285M	probably damaging	Het
Brd8	A	T	18: 34,739,740 (GRCm39)	F678I	probably damaging	Het
Col27a1	T	A	4: 63,143,446 (GRCm39)	M378K	probably benign	Het
Dpy19l4	C	A	4: 11,303,334 (GRCm39)	V196F	probably damaging	Het
Dst	G	T	1: 34,256,884 (GRCm39)		probably benign	Het
Hsd17b1	T	A	11: 100,970,870 (GRCm39)	Y275*	probably null	Het
Kdm3b	A	G	18: 34,928,762 (GRCm39)	E171G	probably damaging	Het
Klc1	T	C	12: 111,748,076 (GRCm39)		probably benign	Het
Mlkl	G	A	8: 112,041,612 (GRCm39)	R443W	probably damaging	Het
Mov10	A	T	3: 104,708,318 (GRCm39)	V477E	probably benign	Het
Nacad	A	G	11: 6,550,933 (GRCm39)	S753P	probably damaging	Het
Nkd2	C	A	13: 73,969,498 (GRCm39)	A311S	probably benign	Het
Nrg1	A	G	8: 32,314,608 (GRCm39)		probably benign	Het
Or4f6	A	G	2: 111,838,953 (GRCm39)	Y193H	probably benign	Het
Or6c68	A	G	10: 129,158,037 (GRCm39)	I182V	probably benign	Het
Pde6h	A	G	6: 136,936,280 (GRCm39)	S8G	probably null	Het
Pik3c2b	A	G	1: 133,007,483 (GRCm39)	K616E	probably benign	Het
Pnpt1	A	T	11: 29,082,845 (GRCm39)	R54S	probably benign	Het
Pramel38	T	C	5: 94,368,912 (GRCm39)	V469A	possibly damaging	Het
Rttn	A	G	18: 88,993,875 (GRCm39)	D184G	probably damaging	Het
Skint5	T	A	4: 113,574,284 (GRCm39)	I756F	unknown	Het
Slc24a2	T	C	4: 87,145,143 (GRCm39)	T304A	probably benign	Het
Stk3	A	T	15: 35,099,572 (GRCm39)		probably benign	Het
Trim69	A	G	2: 121,998,128 (GRCm39)	I33M	probably benign	Het
Ube2q2	A	T	9: 55,102,323 (GRCm39)		probably benign	Het
Vmn1r67	T	A	7: 10,181,394 (GRCm39)	N158K	probably benign	Het
Wipi2	G	A	5: 142,648,857 (GRCm39)	E252K	probably benign	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
IGL00960:Ncapd2	APN	6	125,150,811 (GRCm39)	missense	probably benign
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
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

2016-08-02