Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01677:Nckap1'

103684

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 #

IGL01677

Quality Score

Status

Chromosome

Chromosomal Location

80330856-80411526 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 80360641 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 503 (T503A)

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: T497A

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000028386
Gene: ENSMUSG00000027002
AA Change: T497A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000111760
AA Change: T503A

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000107390
Gene: ENSMUSG00000027002
AA Change: T503A

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arap3	T	A	18: 38,129,700 (GRCm39)	M154L	probably benign	Het
Asph	T	C	4: 9,607,853 (GRCm39)	D131G	probably damaging	Het
Cdc45	G	A	16: 18,605,750 (GRCm39)	T429I	probably benign	Het
Cnga3	C	T	1: 37,283,999 (GRCm39)	R101*	probably null	Het
Cp	T	C	3: 20,020,598 (GRCm39)	I197T	probably damaging	Het
Cyp4b1	T	C	4: 115,493,479 (GRCm39)	D77G	probably damaging	Het
Dnah5	G	T	15: 28,367,928 (GRCm39)	W2771L	probably damaging	Het
Fas	G	A	19: 34,296,218 (GRCm39)	V177I	probably benign	Het
Gde1	A	G	7: 118,293,710 (GRCm39)		probably benign	Het
Hyou1	T	C	9: 44,293,309 (GRCm39)	S223P	probably benign	Het
Klre1	G	T	6: 129,559,006 (GRCm39)	G75C	probably damaging	Het
Lama1	T	C	17: 68,086,143 (GRCm39)	C1461R	probably benign	Het
Map3k7	T	C	4: 32,017,158 (GRCm39)		probably benign	Het
Mrpl18	A	T	17: 13,130,575 (GRCm39)	I178N	probably damaging	Het
Or2n1	T	C	17: 38,486,766 (GRCm39)	S264P	probably damaging	Het
Or52n5	T	C	7: 104,587,852 (GRCm39)	S40P	probably benign	Het
Or52u1	T	C	7: 104,237,352 (GRCm39)	S114P	probably damaging	Het
Or7g28	T	C	9: 19,272,441 (GRCm39)	D70G	probably damaging	Het
Orc1	C	T	4: 108,461,782 (GRCm39)	T593I	probably damaging	Het
Phtf1	T	A	3: 103,906,099 (GRCm39)	S594T	probably damaging	Het
Ppp1r13b	A	T	12: 111,810,099 (GRCm39)	D78E	probably benign	Het
Proz	T	C	8: 13,115,238 (GRCm39)		probably benign	Het
Rtcb	C	A	10: 85,779,793 (GRCm39)	Q292H	probably damaging	Het
Septin11	A	T	5: 93,296,392 (GRCm39)	T95S	probably damaging	Het
Slc12a1	A	G	2: 125,020,069 (GRCm39)		probably benign	Het
Slc45a3	T	A	1: 131,906,708 (GRCm39)	I394N	probably damaging	Het
Slc8a1	T	C	17: 81,956,036 (GRCm39)	H334R	probably damaging	Het
Sort1	T	C	3: 108,252,201 (GRCm39)	I466T	probably benign	Het
Susd2	A	T	10: 75,475,265 (GRCm39)	V515E	possibly damaging	Het
Ttll3	A	G	6: 113,389,945 (GRCm39)	R778G	probably benign	Het
Ubfd1	T	A	7: 121,670,922 (GRCm39)		probably benign	Het
Utrn	G	A	10: 12,619,901 (GRCm39)	T248M	probably damaging	Het
Vmn2r11	T	G	5: 109,201,823 (GRCm39)	D227A	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
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

2014-01-21