Mutagenetix > Incidental Mutation

Incidental Mutation 'R8776-TAIL:Ncapd2'

668065

Institutional Source

Beutler Lab

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 #

R8776-TAIL

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

125144970-125168664 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 125154476 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 580 (D580G)

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: D580G

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

SMART Domains

Protein: ENSMUSP00000042260
Gene: ENSMUSG00000038252
AA Change: D580G

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930568D16Rik	A	G	2: 35,245,002 (GRCm39)	Y117H	probably benign	Het
a	A	G	2: 154,892,612 (GRCm39)	D97G	probably damaging	Het
Cdca7l	T	C	12: 117,836,098 (GRCm39)	S190P	probably damaging	Het
Chst9	T	A	18: 15,586,086 (GRCm39)	Y159F	possibly damaging	Het
Col26a1	G	A	5: 136,911,708 (GRCm39)	R52C	probably damaging	Het
Dchs2	A	T	3: 83,263,701 (GRCm39)	D3323V	possibly damaging	Het
Dqx1	T	A	6: 83,035,619 (GRCm39)	I44N	probably damaging	Het
Edc4	A	G	8: 106,613,992 (GRCm39)	D415G	probably damaging	Het
Enpp3	T	A	10: 24,650,733 (GRCm39)	D801V	probably damaging	Het
Fam13b	G	A	18: 34,584,446 (GRCm39)	R573C	probably damaging	Het
Fgfr2	A	T	7: 129,798,002 (GRCm39)	I415N	possibly damaging	Het
Gm32742	T	A	9: 51,067,230 (GRCm39)	M366L	probably benign	Het
Gm49336	A	T	14: 60,457,515 (GRCm39)	S563T	possibly damaging	Het
Gm5475	T	C	15: 100,324,892 (GRCm39)	F107L	unknown	Het
Lamp3	T	C	16: 19,474,252 (GRCm39)	D374G	probably damaging	Het
Lin9	T	C	1: 180,496,450 (GRCm39)		probably null	Het
Mef2d	T	C	3: 88,074,956 (GRCm39)	S381P	probably benign	Het
Mfsd9	A	G	1: 40,812,915 (GRCm39)	*467Q	probably null	Het
Mpo	A	G	11: 87,693,538 (GRCm39)	I639V	possibly damaging	Het
Mrgprh	T	C	17: 13,096,375 (GRCm39)	I205T	probably benign	Het
Nkain4	T	A	2: 180,585,920 (GRCm39)	I48F	probably damaging	Het
Notch4	C	A	17: 34,806,579 (GRCm39)	R1839S	probably damaging	Het
Nr6a1	A	G	2: 38,650,244 (GRCm39)	Y129H	probably damaging	Het
Or7g19	T	A	9: 18,856,286 (GRCm39)	I114N	possibly damaging	Het
Robo1	G	T	16: 72,821,141 (GRCm39)	E1294*	probably null	Het
Septin8	A	G	11: 53,428,343 (GRCm39)	K331R	probably benign	Het
Shmt2	A	G	10: 127,356,785 (GRCm39)		probably null	Het
Skint6	A	C	4: 112,661,885 (GRCm39)	L1233R	possibly damaging	Het
Slc41a3	A	T	6: 90,621,165 (GRCm39)	T402S	probably benign	Het
Slc9a2	A	G	1: 40,781,889 (GRCm39)	T373A	probably damaging	Het
Spata31d1b	T	C	13: 59,863,283 (GRCm39)	C144R	probably benign	Het
Syne1	A	G	10: 5,181,783 (GRCm39)	V4184A	possibly damaging	Het
Tenm4	G	A	7: 96,544,239 (GRCm39)	R2122H	probably damaging	Het
Tlnrd1	A	T	7: 83,532,316 (GRCm39)	D38E	probably benign	Het
Tnnc2	C	T	2: 164,620,135 (GRCm39)	A6T	probably benign	Het
Usp9y	A	G	Y: 1,356,320 (GRCm39)	V1127A	probably benign	Het
Ylpm1	T	C	12: 85,077,195 (GRCm39)	Y1307H	probably damaging	Het
Zfp266	T	C	9: 20,411,509 (GRCm39)	S223G	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
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
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

Predicted Primers

Posted On

2021-03-08