Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02329:Ncapd2'

288608

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 #

IGL02329

Quality Score

Status

Chromosome

Chromosomal Location

125144970-125168664 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 125166781 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 24 (N24K)

Ref Sequence

ENSEMBL: ENSMUSP00000140672 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032485] [ENSMUST00000043848] [ENSMUST00000188762] [ENSMUST00000189959]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000032485

SMART Domains

Protein: ENSMUSP00000032485
Gene: ENSMUSG00000030335

Domain	Start	End	E-Value	Type
Pfam:MRP-L51	38	126	4.2e-38	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000043848
AA Change: N24K

PolyPhen 2 Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000042260
Gene: ENSMUSG00000038252
AA Change: N24K

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: ENSMUST00000136804

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144380

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000158992

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186210

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187351

Predicted Effect

probably damaging
Transcript: ENSMUST00000188762
AA Change: N24K

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000189959
AA Change: N24K

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000139445
Gene: ENSMUSG00000038252
AA Change: N24K

Domain	Start	End	E-Value	Type
Pfam:Cnd1_N	73	162	8.3e-6	PFAM

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
Atg2a	T	C	19: 6,299,959 (GRCm39)		probably null	Het
Bfsp1	T	C	2: 143,704,566 (GRCm39)	T96A	probably benign	Het
Btnl1	A	G	17: 34,601,239 (GRCm39)	E322G	possibly damaging	Het
Cand2	T	C	6: 115,766,568 (GRCm39)	V391A	probably damaging	Het
Ccdc169	A	G	3: 55,078,702 (GRCm39)	M188V	probably benign	Het
Cngb1	T	C	8: 95,968,987 (GRCm39)	I1174V	probably benign	Het
Cpeb4	T	C	11: 31,822,316 (GRCm39)	V10A	possibly damaging	Het
Cpt1b	T	C	15: 89,307,942 (GRCm39)	T206A	probably benign	Het
Dapk3	T	C	10: 81,025,999 (GRCm39)	S97P	probably benign	Het
Drc3	T	C	11: 60,261,404 (GRCm39)	L185P	probably damaging	Het
Efr3b	T	C	12: 4,042,923 (GRCm39)		probably null	Het
Erbb3	T	A	10: 128,409,088 (GRCm39)	I742F	probably damaging	Het
Fktn	A	G	4: 53,720,181 (GRCm39)	Y65C	probably benign	Het
Fstl5	G	A	3: 76,496,302 (GRCm39)	G355D	probably damaging	Het
Grm8	A	T	6: 27,363,115 (GRCm39)	I800N	probably damaging	Het
Gss	C	T	2: 155,409,773 (GRCm39)	R221H	probably benign	Het
H2-M10.4	A	T	17: 36,771,359 (GRCm39)	V273D	probably damaging	Het
Large1	C	A	8: 73,774,945 (GRCm39)	W255L	possibly damaging	Het
Meig1	T	C	2: 3,410,288 (GRCm39)	K71E	probably damaging	Het
Mtor	A	G	4: 148,619,396 (GRCm39)	N1760D	probably benign	Het
Nphp3	A	C	9: 103,903,167 (GRCm39)	S715R	probably benign	Het
Papolg	T	G	11: 23,841,869 (GRCm39)	H18P	probably damaging	Het
Psd	T	C	19: 46,308,098 (GRCm39)	H667R	possibly damaging	Het
Rita1	C	T	5: 120,747,858 (GRCm39)	A147T	probably damaging	Het
Rtp1	T	C	16: 23,249,943 (GRCm39)	S103P	probably damaging	Het
Snx21	T	C	2: 164,634,310 (GRCm39)		probably benign	Het
Spmip3	A	T	1: 177,570,867 (GRCm39)	Q67L	probably benign	Het
Tiam1	G	T	16: 89,596,924 (GRCm39)	H301N	probably benign	Het
Trcg1	A	T	9: 57,147,676 (GRCm39)	I11F	possibly damaging	Het
Trpm6	A	G	19: 18,831,581 (GRCm39)	K1482R	probably benign	Het
Tyw1	G	T	5: 130,295,921 (GRCm39)	G116V	probably benign	Het
Zfp341	T	C	2: 154,474,224 (GRCm39)	C343R	possibly damaging	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
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

2015-04-16