Mutagenetix > Incidental Mutations

Incidental Mutation 'R6294:Nckap1'

508584

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

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R6294 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

80500512-80581380 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 80541514 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 324 (N324S)

Ref Sequence

ENSEMBL: ENSMUSP00000107390 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000028386
AA Change: N318S

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000028386
Gene: ENSMUSG00000027002
AA Change: N318S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000111760
AA Change: N324S

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000107390
Gene: ENSMUSG00000027002
AA Change: N324S

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131872

Meta Mutation Damage Score

0.0734

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.2%

Validation Efficiency

99% (71/72)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	T	6: 121,654,481	H579L	probably benign	Het
Aldh2	G	A	5: 121,572,816	Q8*	probably null	Het
Ankdd1a	G	T	9: 65,520,164	H10Q	probably benign	Het
Arpp21	A	G	9: 112,127,452	F453L	probably damaging	Het
Birc6	C	A	17: 74,689,257	D4461E	probably benign	Het
Cacna1b	A	T	2: 24,719,057	S411T	possibly damaging	Het
Camk2g	A	G	14: 20,764,949	I203T	probably damaging	Het
Cat	A	T	2: 103,460,295	C425S	probably benign	Het
Ccdc34	A	G	2: 110,018,151	D95G	probably benign	Het
Clca4b	T	C	3: 144,925,185	S305G	probably null	Het
Cul7	T	C	17: 46,663,148	I1453T	probably benign	Het
Dlg1	T	A	16: 31,838,124	I612N	probably damaging	Het
Dync2h1	T	G	9: 7,084,986	K561T	probably benign	Het
Erbin	T	C	13: 103,857,056	T359A	probably benign	Het
Far2	T	A	6: 148,157,482	L222Q	probably damaging	Het
Fbxw17	A	G	13: 50,423,803	E114G	probably benign	Het
Fryl	A	T	5: 73,191,759		probably benign	Het
Ggn	A	G	7: 29,173,848	D666G	possibly damaging	Het
Hal	G	A	10: 93,514,143		probably null	Het
Htt	A	G	5: 34,821,826	D851G	probably benign	Het
Ighv14-2	A	T	12: 113,994,598	D74E	probably benign	Het
Igkv5-43	G	A	6: 69,823,442	S87L	probably damaging	Het
Klhl29	A	T	12: 5,083,995	F720I	probably damaging	Het
Klk1b8	T	A	7: 43,952,772	Y43N	probably damaging	Het
Krtap6-3	T	A	16: 89,084,101	Y7N	unknown	Het
Lama4	T	A	10: 39,075,470	F1070L	probably damaging	Het
Map4	A	G	9: 110,002,746	E98G	possibly damaging	Het
Mbtd1	C	T	11: 93,932,232	H493Y	possibly damaging	Het
Mki67	A	G	7: 135,704,590	M581T	probably benign	Het
Mtss1l	T	A	8: 110,727,328	N43K	possibly damaging	Het
Mylk3	T	A	8: 85,350,383	I475F	probably damaging	Het
Nat14	C	T	7: 4,924,074	R82*	probably null	Het
Nemp1	C	T	10: 127,694,522	T281M	possibly damaging	Het
Nrg3	A	T	14: 38,397,239	H425Q	probably benign	Het
Olfr101	T	A	17: 37,299,553	T290S	probably benign	Het
Olfr1318	A	G	2: 112,156,019	I23V	probably benign	Het
Olfr1487	T	C	19: 13,619,366	V25A	probably benign	Het
Olfr584	A	T	7: 103,085,667	I45F	probably benign	Het
Olfr622	A	G	7: 103,639,591	M183T	probably damaging	Het
Olfr95	T	C	17: 37,211,626	T76A	probably benign	Het
Omd	T	A	13: 49,589,991	N172K	probably damaging	Het
Orc1	T	C	4: 108,590,670	I38T	probably benign	Het
Oxct1	A	G	15: 4,142,822	T457A	possibly damaging	Het
Pcdh17	A	T	14: 84,477,668	K924N	probably benign	Het
Pkhd1l1	A	T	15: 44,570,028	I3435F	probably damaging	Het
Psg20	C	A	7: 18,682,679	V171F	probably damaging	Het
Rab11fip2	A	T	19: 59,937,099	S87T	probably damaging	Het
Rabgap1l	T	C	1: 160,231,849	T237A	probably benign	Het
Rasgrp1	A	T	2: 117,291,792	Y372*	probably null	Het
Rell1	G	T	5: 63,939,705		probably benign	Het
Rps14	A	G	18: 60,776,961	K61E	possibly damaging	Het
Rtl6	A	G	15: 84,557,120	V25A	possibly damaging	Het
Ryr2	G	T	13: 11,879,496	S185R	probably damaging	Het
Slc10a2	C	T	8: 5,091,621		probably null	Het
Slc14a1	T	A	18: 78,110,058		probably null	Het
Smad2	A	T	18: 76,289,162	N215I	probably benign	Het
Smchd1	A	T	17: 71,370,927	N1473K	probably benign	Het
Spag9	A	G	11: 94,093,485		probably null	Het
Stk31	A	C	6: 49,417,344	R213S	probably benign	Het
Tmod4	A	T	3: 95,128,306	Q255L	probably benign	Het
Tnpo1	T	A	13: 98,890,774	Y3F	probably benign	Het
Tom1l1	A	C	11: 90,661,761	Y206*	probably null	Het
Tulp2	A	G	7: 45,514,692	K36E	probably damaging	Het
Tulp4	C	T	17: 6,201,819	R282C	probably damaging	Het
Unc5b	A	T	10: 60,778,331	N246K	possibly damaging	Het
Ush2a	C	G	1: 188,536,370	S1674R	possibly damaging	Het
Vmn1r224	T	C	17: 20,419,821	I220T	probably benign	Het
Vmn1r7	G	C	6: 57,024,419	N285K	probably benign	Het
Vmn2r83	C	T	10: 79,477,854	P99S	probably damaging	Het
Zbtb38	A	G	9: 96,687,229	F601L	probably benign	Het
Zc3h3	A	T	15: 75,809,568	S555T	possibly 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
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
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'- AATAACTAGAGCCCTTTCAGTGGAAC -3'
(R):5'- TGCATTGAGTATCGGAAGTACTAG -3'

Sequencing Primer
(F):5'- AGAGCCCTTTCAGTGGAACTTCTTG -3'
(R):5'- TGAGATAGACATCACCCAT -3'

Posted On

2018-03-15