Mutagenetix > Incidental Mutations

Incidental Mutation 'R1402:Nckap1'

160405

Institutional Source

Beutler Lab

Gene Symbol

Nckap1

Ensembl Gene

ENSMUSG00000027002

Gene Name

NCK-associated protein 1

Synonyms

mh19, Hem-2, Nap1, Hem2, H19

MMRRC Submission

039464-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R1402 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

80500512-80581380 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 80517942 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Asparagine at position 889 (S889N)

Ref Sequence

ENSEMBL: ENSMUSP00000107390 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000028386
AA Change: S883N

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

SMART Domains

Protein: ENSMUSP00000028386
Gene: ENSMUSG00000027002
AA Change: S883N

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

Predicted Effect

probably benign
Transcript: ENSMUST00000111760
AA Change: S889N

PolyPhen 2 Score 0.119 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000107390
Gene: ENSMUSG00000027002
AA Change: S889N

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154793

Meta Mutation Damage Score

0.0872

Coding Region Coverage

1x: 98.9%
3x: 96.3%
10x: 80.0%
20x: 46.3%

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: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aqp8	T	A	7: 123,466,639	V219E	probably damaging	Het
Bves	C	T	10: 45,347,865	T207M	probably damaging	Het
Dlg5	T	C	14: 24,176,608	S409G	probably benign	Het
Ehmt2	C	T	17: 34,906,781	T607I	probably benign	Het
Gm21738	T	A	14: 19,415,957	Y194F	probably benign	Het
Gm21738	T	C	14: 19,415,963	K192R	probably benign	Het
H2-T22	A	T	17: 36,040,269	I307N	possibly damaging	Het
Itih3	T	C	14: 30,908,708	D882G	probably damaging	Het
Kmt5c	G	T	7: 4,742,253	R81L	possibly damaging	Het
Nr1i2	A	G	16: 38,252,883	S244P	probably damaging	Het
Pcx	A	G	19: 4,602,030	D101G	possibly damaging	Het
Prkch	T	C	12: 73,585,389	V76A	probably damaging	Het
Thsd1	A	G	8: 22,259,368	K691E	possibly damaging	Het
Tmprss11e	G	A	5: 86,715,618	T196I	probably damaging	Het
Trappc13	A	G	13: 104,150,116	V211A	probably damaging	Het
Ttc37	A	G	13: 76,131,414	Y655C	probably damaging	Het
Vav1	C	A	17: 57,303,849	L472I	probably benign	Het
Wdr25	G	A	12: 109,026,539	E459K	probably damaging	Het
Zdbf2	A	T	1: 63,303,627	E388D	possibly damaging	Het
Zfp663	T	C	2: 165,353,970	K110E	probably benign	Het
Zfp78	C	A	7: 6,378,619	H223N	probably damaging	Het

Other mutations in Nckap1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00496:Nckap1	APN	2	80506202	missense	possibly damaging	0.87
IGL00896:Nckap1	APN	2	80580953	missense	possibly damaging	0.59
IGL01343:Nckap1	APN	2	80519842	missense	possibly damaging	0.81
IGL01593:Nckap1	APN	2	80520570	missense	probably benign	0.06
IGL01677:Nckap1	APN	2	80530297	missense	probably benign	0.04
IGL01873:Nckap1	APN	2	80553385	missense	possibly damaging	0.95
IGL01874:Nckap1	APN	2	80525636	missense	probably damaging	1.00
IGL01947:Nckap1	APN	2	80508753	missense	probably damaging	1.00
IGL02268:Nckap1	APN	2	80528618	missense	probably benign	0.16
IGL02348:Nckap1	APN	2	80517982	missense	probably damaging	1.00
IGL03349:Nckap1	APN	2	80525560	missense	probably benign	0.07
PIT4151001:Nckap1	UTSW	2	80520370	critical splice donor site	probably null
R0326:Nckap1	UTSW	2	80553370	missense	probably benign	0.41
R0345:Nckap1	UTSW	2	80544977	splice site	probably benign
R0520:Nckap1	UTSW	2	80541530	splice site	probably benign
R0603:Nckap1	UTSW	2	80512729	missense	probably benign	0.19
R0924:Nckap1	UTSW	2	80554249	missense	probably benign	0.34
R0930:Nckap1	UTSW	2	80554249	missense	probably benign	0.34
R0964:Nckap1	UTSW	2	80547899	critical splice donor site	probably null
R1122:Nckap1	UTSW	2	80517942	missense	probably benign	0.12
R1123:Nckap1	UTSW	2	80517942	missense	probably benign	0.12
R1124:Nckap1	UTSW	2	80517942	missense	probably benign	0.12
R1125:Nckap1	UTSW	2	80517942	missense	probably benign	0.12
R1127:Nckap1	UTSW	2	80517942	missense	probably benign	0.12
R1182:Nckap1	UTSW	2	80517942	missense	probably benign	0.12
R1234:Nckap1	UTSW	2	80517942	missense	probably benign	0.12
R1236:Nckap1	UTSW	2	80517942	missense	probably benign	0.12
R1384:Nckap1	UTSW	2	80533670	missense	possibly damaging	0.90
R1402:Nckap1	UTSW	2	80517942	missense	probably benign	0.12
R1511:Nckap1	UTSW	2	80553415	missense	probably damaging	0.99
R1677:Nckap1	UTSW	2	80517942	missense	probably benign	0.12
R1686:Nckap1	UTSW	2	80517942	missense	probably benign	0.12
R1687:Nckap1	UTSW	2	80520585	missense	probably damaging	0.96
R1717:Nckap1	UTSW	2	80512670	splice site	probably benign
R1789:Nckap1	UTSW	2	80520556	missense	probably benign	0.44
R1822:Nckap1	UTSW	2	80517898	missense	possibly damaging	0.58
R1840:Nckap1	UTSW	2	80502250	missense	possibly damaging	0.88
R1926:Nckap1	UTSW	2	80506838	missense	probably damaging	1.00
R1968:Nckap1	UTSW	2	80517942	missense	probably benign	0.12
R1970:Nckap1	UTSW	2	80517942	missense	probably benign	0.12
R2027:Nckap1	UTSW	2	80535518	missense	probably damaging	1.00
R2063:Nckap1	UTSW	2	80570150	missense	probably damaging	1.00
R2504:Nckap1	UTSW	2	80530218	missense	probably benign	0.40
R3824:Nckap1	UTSW	2	80540560	missense	possibly damaging	0.72
R4784:Nckap1	UTSW	2	80506934	missense	probably benign	0.15
R4908:Nckap1	UTSW	2	80523374	critical splice donor site	probably null
R5077:Nckap1	UTSW	2	80548933	missense	probably damaging	0.99
R5311:Nckap1	UTSW	2	80540122	missense	probably damaging	1.00
R5439:Nckap1	UTSW	2	80512690	missense	possibly damaging	0.81
R6141:Nckap1	UTSW	2	80530207	missense	probably damaging	1.00
R6209:Nckap1	UTSW	2	80525602	missense	probably damaging	1.00
R6226:Nckap1	UTSW	2	80508781	missense	possibly damaging	0.96
R6294:Nckap1	UTSW	2	80541514	missense	probably benign	0.03
R6458:Nckap1	UTSW	2	80512549	intron	probably null
R6937:Nckap1	UTSW	2	80508716	missense	probably damaging	1.00
R6986:Nckap1	UTSW	2	80520567	missense	probably benign	0.03
R7180:Nckap1	UTSW	2	80506892	missense	probably benign	0.01
R7208:Nckap1	UTSW	2	80540198	missense	probably benign	0.24
R7363:Nckap1	UTSW	2	80540168	missense	probably damaging	1.00
R7448:Nckap1	UTSW	2	80524541	missense	probably damaging	1.00
R7513:Nckap1	UTSW	2	80502291	missense	possibly damaging	0.81
R7806:Nckap1	UTSW	2	80541499	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- GGAGTAGATGTACACTGGAAAGACCCT -3'
(R):5'- GGTCACAAAACCTCTTGGAACTTGACA -3'

Sequencing Primer
(F):5'- GTACACTGGAAAGACCCTGTGAC -3'
(R):5'- AGAACAAAGATCCGTGCCTG -3'

Posted On

2014-03-14