Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00896:Nckap1'

26814

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 #

IGL00896

Quality Score

Status

Chromosome

Chromosomal Location

80330856-80411526 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 80411297 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 5 (V5M)

Ref Sequence

ENSEMBL: ENSMUSP00000107390 (fasta)

Gene Model

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

AlphaFold

P28660

Predicted Effect

probably benign
Transcript: ENSMUST00000028386
AA Change: V5M

PolyPhen 2 Score 0.231 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000028386
Gene: ENSMUSG00000027002
AA Change: V5M

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000111760
AA Change: V5M

PolyPhen 2 Score 0.593 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000107390
Gene: ENSMUSG00000027002
AA Change: V5M

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

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: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam6a	A	G	12: 113,509,030 (GRCm39)	T468A	possibly damaging	Het
Ankrd35	A	G	3: 96,591,592 (GRCm39)	E626G	probably damaging	Het
Arhgef4	A	G	1: 34,850,777 (GRCm39)	Y1812C	possibly damaging	Het
Aurkc	T	C	7: 7,005,513 (GRCm39)	Y260H	possibly damaging	Het
Bltp1	A	G	3: 37,093,611 (GRCm39)	T4352A	probably benign	Het
Cpb1	A	G	3: 20,306,193 (GRCm39)	V329A	probably benign	Het
Cyp2d11	G	T	15: 82,275,275 (GRCm39)		probably benign	Het
Dnase1	G	A	16: 3,857,076 (GRCm39)	S28N	probably benign	Het
Drgx	C	T	14: 32,327,171 (GRCm39)		probably benign	Het
Evpl	C	A	11: 116,113,410 (GRCm39)	E1427*	probably null	Het
Gimap6	T	C	6: 48,679,394 (GRCm39)	N214S	probably benign	Het
Htr1f	A	T	16: 64,746,469 (GRCm39)	H274Q	probably benign	Het
Ipo9	A	T	1: 135,327,797 (GRCm39)	V538E	probably damaging	Het
Lmf2	T	C	15: 89,237,539 (GRCm39)	K308E	probably benign	Het
Mog	T	A	17: 37,328,377 (GRCm39)		probably null	Het
Myo19	T	C	11: 84,800,324 (GRCm39)	V903A	probably benign	Het
Myt1l	A	G	12: 29,876,885 (GRCm39)	T179A	unknown	Het
Or1e23	T	C	11: 73,407,167 (GRCm39)	N286S	probably damaging	Het
Or51l4	T	C	7: 103,404,213 (GRCm39)	D193G	probably damaging	Het
Or9a2	A	T	6: 41,749,047 (GRCm39)	L62Q	probably damaging	Het
Pcdhb5	T	G	18: 37,455,838 (GRCm39)		probably null	Het
Pcm1	C	A	8: 41,729,160 (GRCm39)	Q711K	possibly damaging	Het
Pde6a	A	G	18: 61,353,864 (GRCm39)	D63G	possibly damaging	Het
Piezo1	T	C	8: 123,224,609 (GRCm39)	M711V	possibly damaging	Het
Rev1	G	A	1: 38,138,021 (GRCm39)	T88I	probably damaging	Het
Sntg1	A	T	1: 8,665,634 (GRCm39)		probably null	Het
Sult2a1	T	A	7: 13,566,565 (GRCm39)	T137S	probably benign	Het
Txndc15	G	A	13: 55,873,488 (GRCm39)	A283T	probably damaging	Het
Zswim8	A	G	14: 20,766,069 (GRCm39)	E785G	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
IGL01343:Nckap1	APN	2	80,350,186 (GRCm39)	missense	possibly damaging	0.81
IGL01593:Nckap1	APN	2	80,350,914 (GRCm39)	missense	probably benign	0.06
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

2013-04-17