Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00496:Nckap1'

12752

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nckap1

Ensembl Gene

ENSMUSG00000027002

Gene Name

NCK-associated protein 1

Synonyms

mh19, Hem-2, Nap1, Hem2, H19

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00496

Quality Score

Status

Chromosome

Chromosomal Location

80500512-80581380 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 80506202 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 1057 (I1057F)

Ref Sequence

ENSEMBL: ENSMUSP00000107390 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000028386
AA Change: I1051F

PolyPhen 2 Score 0.488 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000028386
Gene: ENSMUSG00000027002
AA Change: I1051F

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000111760
AA Change: I1057F

PolyPhen 2 Score 0.869 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000107390
Gene: ENSMUSG00000027002
AA Change: I1057F

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: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933434E20Rik	G	A	3: 90,053,093	V14M	possibly damaging	Het
Adgrg6	C	A	10: 14,450,578		probably null	Het
Ankmy1	A	G	1: 92,886,266	L397P	probably damaging	Het
Atp6v1c1	A	G	15: 38,686,856	K232E	probably damaging	Het
Cnfn	G	T	7: 25,367,960		probably benign	Het
Copb2	A	G	9: 98,570,318	T52A	probably benign	Het
Daw1	A	C	1: 83,197,236	L152F	probably damaging	Het
Gpr87	A	T	3: 59,179,790	I98K	probably damaging	Het
Il17a	G	A	1: 20,732,283	R72H	probably damaging	Het
Lmtk2	A	G	5: 144,174,694	Q744R	probably benign	Het
Micall1	G	A	15: 79,115,021		probably benign	Het
Micall2	T	C	5: 139,716,328	T387A	probably benign	Het
Nr1h3	T	C	2: 91,190,199	D263G	probably damaging	Het
Nrip1	A	T	16: 76,293,703	V322E	possibly damaging	Het
Pck1	T	C	2: 173,154,118		probably null	Het
Ppp3r2	A	G	4: 49,681,773	I59T	possibly damaging	Het
Pradc1	A	G	6: 85,447,966		probably null	Het
Psmd14	A	G	2: 61,760,682	Y32C	probably damaging	Het
Rrp12	A	C	19: 41,878,027		probably null	Het
Scaf8	A	T	17: 3,171,134	I299F	unknown	Het
Selenoo	A	G	15: 89,095,672	D341G	probably damaging	Het
Slc1a6	C	A	10: 78,793,308	N186K	probably damaging	Het
Smarcc2	T	A	10: 128,463,055	S102R	probably damaging	Het
Stambpl1	T	A	19: 34,240,030	V423E	probably damaging	Het
Svep1	A	C	4: 58,069,001	C2928W	possibly damaging	Het
Tmed9	T	C	13: 55,593,521	Y43H	probably benign	Het
Ttn	T	C	2: 76,740,747	T24855A	possibly damaging	Het
Usp7	A	G	16: 8,695,113	V795A	probably damaging	Het
Wdr17	A	C	8: 54,659,579		probably benign	Het

Other mutations in Nckap1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2012-12-06