Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01593:Nckap1'

91649

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nckap1

Ensembl Gene

ENSMUSG00000027002

Gene Name

NCK-associated protein 1

Synonyms

Hem-2, Hem2, Nap1, H19, mh19

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01593

Quality Score

Status

Chromosome

Chromosomal Location

80330856-80411526 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 80350914 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 725 (M725K)

Ref Sequence

ENSEMBL: ENSMUSP00000028386 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028386] [ENSMUST00000111760]

AlphaFold

P28660

Predicted Effect

probably benign
Transcript: ENSMUST00000028386
AA Change: M725K

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000028386
Gene: ENSMUSG00000027002
AA Change: M725K

Domain	Start	End	E-Value	Type
Pfam:Nckap1	8	1124	N/A	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000111760
AA Change: M731K

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000107390
Gene: ENSMUSG00000027002
AA Change: M731K

Domain	Start	End	E-Value	Type
Pfam:Nckap1	9	1128	N/A	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154793

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for disruptions in this gene exhibit growth arrest at midgestation, an open neural tube, cardia bifida, defective foregut development, defects in endoderm and mesoderm migration and sometimes duplication of the anteroposterior body axis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc12	A	T	8: 87,284,279 (GRCm39)	I310N	probably damaging	Het
Abtb3	T	A	10: 85,490,339 (GRCm39)		probably benign	Het
Ackr4	C	T	9: 103,963,130 (GRCm39)		probably benign	Het
Ankib1	A	T	5: 3,782,590 (GRCm39)	D346E	probably benign	Het
Asap2	G	T	12: 21,263,203 (GRCm39)	A273S	probably null	Het
Atp6v0d2	C	A	4: 19,881,436 (GRCm39)	R219L	probably damaging	Het
Atp6v1e2	A	T	17: 87,251,727 (GRCm39)	F224I	probably damaging	Het
Bnc2	T	C	4: 84,194,478 (GRCm39)		probably null	Het
Cd33	A	G	7: 43,179,705 (GRCm39)	L241P	possibly damaging	Het
Clec4g	A	T	8: 3,769,474 (GRCm39)		probably null	Het
Dym	C	T	18: 75,247,852 (GRCm39)		probably benign	Het
Enpp5	A	G	17: 44,391,612 (GRCm39)	T14A	probably benign	Het
Ggt1	T	C	10: 75,421,121 (GRCm39)		probably null	Het
Gm17541	T	A	12: 4,739,868 (GRCm39)		probably benign	Het
Gpr39	A	T	1: 125,605,188 (GRCm39)	I39F	probably benign	Het
Kcnb1	G	T	2: 166,948,127 (GRCm39)	F240L	probably damaging	Het
Kcnt1	T	A	2: 25,788,766 (GRCm39)	V400E	probably damaging	Het
Klhdc7a	A	G	4: 139,694,125 (GRCm39)	I274T	probably damaging	Het
Lrwd1	A	T	5: 136,163,483 (GRCm39)	L71Q	probably damaging	Het
Mycbp2	A	T	14: 103,528,723 (GRCm39)		probably null	Het
Odad2	T	C	18: 7,127,345 (GRCm39)	K956R	probably benign	Het
Or2b7	T	A	13: 21,739,389 (GRCm39)	I268F	probably damaging	Het
Pole2	C	T	12: 69,269,873 (GRCm39)		probably null	Het
Prss32	A	G	17: 24,074,982 (GRCm39)	T111A	probably benign	Het
Rgs9	A	G	11: 109,139,875 (GRCm39)		probably benign	Het
Slc2a4	A	G	11: 69,835,654 (GRCm39)	C361R	probably damaging	Het
Ston1	G	A	17: 88,944,438 (GRCm39)	G615R	probably null	Het
Tas2r139	T	G	6: 42,117,891 (GRCm39)	W8G	probably benign	Het
Tmem101	A	T	11: 102,046,704 (GRCm39)	L55Q	probably damaging	Het
Tnni3k	T	C	3: 154,646,666 (GRCm39)		probably null	Het
Uba2	A	G	7: 33,845,689 (GRCm39)	V478A	probably damaging	Het
Vps13a	T	C	19: 16,739,545 (GRCm39)	D52G	probably damaging	Het

Other mutations in Nckap1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00496:Nckap1	APN	2	80,336,546 (GRCm39)	missense	possibly damaging	0.87
IGL00896:Nckap1	APN	2	80,411,297 (GRCm39)	missense	possibly damaging	0.59
IGL01343:Nckap1	APN	2	80,350,186 (GRCm39)	missense	possibly damaging	0.81
IGL01677:Nckap1	APN	2	80,360,641 (GRCm39)	missense	probably benign	0.04
IGL01873:Nckap1	APN	2	80,383,729 (GRCm39)	missense	possibly damaging	0.95
IGL01874:Nckap1	APN	2	80,355,980 (GRCm39)	missense	probably damaging	1.00
IGL01947:Nckap1	APN	2	80,339,097 (GRCm39)	missense	probably damaging	1.00
IGL02268:Nckap1	APN	2	80,358,962 (GRCm39)	missense	probably benign	0.16
IGL02348:Nckap1	APN	2	80,348,326 (GRCm39)	missense	probably damaging	1.00
IGL03349:Nckap1	APN	2	80,355,904 (GRCm39)	missense	probably benign	0.07
PIT4151001:Nckap1	UTSW	2	80,350,714 (GRCm39)	critical splice donor site	probably null
R0326:Nckap1	UTSW	2	80,383,714 (GRCm39)	missense	probably benign	0.41
R0345:Nckap1	UTSW	2	80,375,321 (GRCm39)	splice site	probably benign
R0520:Nckap1	UTSW	2	80,371,874 (GRCm39)	splice site	probably benign
R0603:Nckap1	UTSW	2	80,343,073 (GRCm39)	missense	probably benign	0.19
R0924:Nckap1	UTSW	2	80,384,593 (GRCm39)	missense	probably benign	0.34
R0930:Nckap1	UTSW	2	80,384,593 (GRCm39)	missense	probably benign	0.34
R0964:Nckap1	UTSW	2	80,378,243 (GRCm39)	critical splice donor site	probably null
R1122:Nckap1	UTSW	2	80,348,286 (GRCm39)	missense	probably benign	0.12
R1123:Nckap1	UTSW	2	80,348,286 (GRCm39)	missense	probably benign	0.12
R1124:Nckap1	UTSW	2	80,348,286 (GRCm39)	missense	probably benign	0.12
R1125:Nckap1	UTSW	2	80,348,286 (GRCm39)	missense	probably benign	0.12
R1127:Nckap1	UTSW	2	80,348,286 (GRCm39)	missense	probably benign	0.12
R1182:Nckap1	UTSW	2	80,348,286 (GRCm39)	missense	probably benign	0.12
R1234:Nckap1	UTSW	2	80,348,286 (GRCm39)	missense	probably benign	0.12
R1236:Nckap1	UTSW	2	80,348,286 (GRCm39)	missense	probably benign	0.12
R1384:Nckap1	UTSW	2	80,364,014 (GRCm39)	missense	possibly damaging	0.90
R1402:Nckap1	UTSW	2	80,348,286 (GRCm39)	missense	probably benign	0.12
R1402:Nckap1	UTSW	2	80,348,286 (GRCm39)	missense	probably benign	0.12
R1511:Nckap1	UTSW	2	80,383,759 (GRCm39)	missense	probably damaging	0.99
R1677:Nckap1	UTSW	2	80,348,286 (GRCm39)	missense	probably benign	0.12
R1686:Nckap1	UTSW	2	80,348,286 (GRCm39)	missense	probably benign	0.12
R1687:Nckap1	UTSW	2	80,350,929 (GRCm39)	missense	probably damaging	0.96
R1717:Nckap1	UTSW	2	80,343,014 (GRCm39)	splice site	probably benign
R1789:Nckap1	UTSW	2	80,350,900 (GRCm39)	missense	probably benign	0.44
R1822:Nckap1	UTSW	2	80,348,242 (GRCm39)	missense	possibly damaging	0.58
R1840:Nckap1	UTSW	2	80,332,594 (GRCm39)	missense	possibly damaging	0.88
R1926:Nckap1	UTSW	2	80,337,182 (GRCm39)	missense	probably damaging	1.00
R1968:Nckap1	UTSW	2	80,348,286 (GRCm39)	missense	probably benign	0.12
R1970:Nckap1	UTSW	2	80,348,286 (GRCm39)	missense	probably benign	0.12
R2027:Nckap1	UTSW	2	80,365,862 (GRCm39)	missense	probably damaging	1.00
R2063:Nckap1	UTSW	2	80,400,494 (GRCm39)	missense	probably damaging	1.00
R2504:Nckap1	UTSW	2	80,360,562 (GRCm39)	missense	probably benign	0.40
R3824:Nckap1	UTSW	2	80,370,904 (GRCm39)	missense	possibly damaging	0.72
R4784:Nckap1	UTSW	2	80,337,278 (GRCm39)	missense	probably benign	0.15
R4908:Nckap1	UTSW	2	80,353,718 (GRCm39)	critical splice donor site	probably null
R5077:Nckap1	UTSW	2	80,379,277 (GRCm39)	missense	probably damaging	0.99
R5311:Nckap1	UTSW	2	80,370,466 (GRCm39)	missense	probably damaging	1.00
R5439:Nckap1	UTSW	2	80,343,034 (GRCm39)	missense	possibly damaging	0.81
R6141:Nckap1	UTSW	2	80,360,551 (GRCm39)	missense	probably damaging	1.00
R6209:Nckap1	UTSW	2	80,355,946 (GRCm39)	missense	probably damaging	1.00
R6226:Nckap1	UTSW	2	80,339,125 (GRCm39)	missense	possibly damaging	0.96
R6294:Nckap1	UTSW	2	80,371,858 (GRCm39)	missense	probably benign	0.03
R6458:Nckap1	UTSW	2	80,342,893 (GRCm39)	splice site	probably null
R6937:Nckap1	UTSW	2	80,339,060 (GRCm39)	missense	probably damaging	1.00
R6986:Nckap1	UTSW	2	80,350,911 (GRCm39)	missense	probably benign	0.03
R7180:Nckap1	UTSW	2	80,337,236 (GRCm39)	missense	probably benign	0.01
R7208:Nckap1	UTSW	2	80,370,542 (GRCm39)	missense	probably benign	0.24
R7363:Nckap1	UTSW	2	80,370,512 (GRCm39)	missense	probably damaging	1.00
R7448:Nckap1	UTSW	2	80,354,885 (GRCm39)	missense	probably damaging	1.00
R7513:Nckap1	UTSW	2	80,332,635 (GRCm39)	missense	possibly damaging	0.81
R7806:Nckap1	UTSW	2	80,371,843 (GRCm39)	missense	probably damaging	0.98
R8143:Nckap1	UTSW	2	80,336,530 (GRCm39)	missense	possibly damaging	0.93
R8270:Nckap1	UTSW	2	80,355,008 (GRCm39)	missense	possibly damaging	0.82
R8775:Nckap1	UTSW	2	80,375,410 (GRCm39)	missense	probably benign	0.00
R8775-TAIL:Nckap1	UTSW	2	80,375,410 (GRCm39)	missense	probably benign	0.00
R8886:Nckap1	UTSW	2	80,339,055 (GRCm39)	critical splice donor site	probably null
R8913:Nckap1	UTSW	2	80,401,564 (GRCm39)	missense	possibly damaging	0.51
R9080:Nckap1	UTSW	2	80,350,726 (GRCm39)	missense	probably damaging	1.00
R9287:Nckap1	UTSW	2	80,383,750 (GRCm39)	missense	possibly damaging	0.68
R9722:Nckap1	UTSW	2	80,401,568 (GRCm39)	nonsense	probably null
R9749:Nckap1	UTSW	2	80,401,568 (GRCm39)	nonsense	probably null
Z1176:Nckap1	UTSW	2	80,370,852 (GRCm39)	critical splice donor site	probably null

Posted On

2013-12-09