Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01947:Nckap1'

181250

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 #

IGL01947

Quality Score

Status

Chromosome

Chromosomal Location

80330856-80411526 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 80339097 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Serine at position 977 (I977S)

Ref Sequence

ENSEMBL: ENSMUSP00000107390 (fasta)

Gene Model

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

AlphaFold

P28660

Predicted Effect

probably damaging
Transcript: ENSMUST00000028386
AA Change: I971S

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000028386
Gene: ENSMUSG00000027002
AA Change: I971S

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000111760
AA Change: I977S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000107390
Gene: ENSMUSG00000027002
AA Change: I977S

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl4	T	C	3: 151,216,428 (GRCm39)		probably null	Het
Aloxe3	T	A	11: 69,033,847 (GRCm39)		probably benign	Het
Atic	C	T	1: 71,609,996 (GRCm39)		probably benign	Het
Avpr1a	T	C	10: 122,288,087 (GRCm39)	V365A	probably benign	Het
Brd7	A	G	8: 89,059,503 (GRCm39)		probably benign	Het
Cc2d2a	A	G	5: 43,845,579 (GRCm39)	N332D	probably damaging	Het
Cdh20	C	T	1: 104,921,649 (GRCm39)	P649S	possibly damaging	Het
Cgnl1	T	C	9: 71,632,326 (GRCm39)	T342A	probably damaging	Het
Chst10	A	G	1: 38,904,646 (GRCm39)	L349P	probably damaging	Het
Cox6b2	T	A	7: 4,754,929 (GRCm39)	K77*	probably null	Het
Crnkl1	G	A	2: 145,763,744 (GRCm39)	A498V	probably benign	Het
Cux1	A	G	5: 136,303,979 (GRCm39)	L1394P	probably benign	Het
Dapp1	T	C	3: 137,641,404 (GRCm39)	Y197C	probably damaging	Het
Dcc	A	G	18: 71,959,280 (GRCm39)	I164T	probably benign	Het
Disp3	T	A	4: 148,344,976 (GRCm39)	I472F	probably damaging	Het
Gm10392	A	T	11: 77,408,306 (GRCm39)	D104E	probably benign	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
Gpd1	A	G	15: 99,618,112 (GRCm39)	I143V	possibly damaging	Het
Hmcn1	T	A	1: 150,608,643 (GRCm39)	N1513I	possibly damaging	Het
Jakmip2	T	C	18: 43,680,159 (GRCm39)	I733V	probably benign	Het
Klhl12	T	A	1: 134,391,689 (GRCm39)	L107H	probably damaging	Het
Lcn8	A	G	2: 25,545,157 (GRCm39)	D109G	probably damaging	Het
Maz	A	T	7: 126,623,614 (GRCm39)		probably null	Het
Mttp	T	A	3: 137,812,890 (GRCm39)	D595V	probably damaging	Het
Mymk	A	C	2: 26,956,406 (GRCm39)	L58R	possibly damaging	Het
Nckap1l	A	T	15: 103,399,442 (GRCm39)	I1021F	probably benign	Het
Or12d2	A	T	17: 37,624,556 (GRCm39)	C240S	probably damaging	Het
Or4f14b	A	T	2: 111,775,339 (GRCm39)	M154K	probably benign	Het
Or4f6	A	T	2: 111,839,361 (GRCm39)	S57T	possibly damaging	Het
Or6c38	G	A	10: 128,929,747 (GRCm39)	T32I	possibly damaging	Het
Pde5a	T	A	3: 122,629,259 (GRCm39)	F644L	probably damaging	Het
Pdzd2	A	G	15: 12,592,440 (GRCm39)	I68T	probably damaging	Het
Pik3r4	T	A	9: 105,563,349 (GRCm39)	V1242D	possibly damaging	Het
Ppp6r2	G	T	15: 89,162,929 (GRCm39)	W517L	probably damaging	Het
Scrib	A	T	15: 75,933,616 (GRCm39)	I703K	probably benign	Het
Serpina1b	T	C	12: 103,695,576 (GRCm39)	S322G	probably benign	Het
Siglecg	C	A	7: 43,058,187 (GRCm39)	Q25K	probably benign	Het
Slc12a3	G	A	8: 95,092,447 (GRCm39)		probably null	Het
Slc6a13	G	T	6: 121,302,116 (GRCm39)		probably null	Het
Stard13	A	T	5: 150,986,309 (GRCm39)	D282E	probably damaging	Het
Tpte	A	T	8: 22,845,489 (GRCm39)	Y513F	possibly damaging	Het
Ubox5	T	A	2: 130,442,579 (GRCm39)	K36I	possibly 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
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
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

2014-05-07