Mutagenetix > Incidental Mutation

Incidental Mutation 'R2144:Nckap1l'

236680

Institutional Source

Beutler Lab

Gene Symbol

Nckap1l

Ensembl Gene

ENSMUSG00000022488

Gene Name

NCK associated protein 1 like

Synonyms

Hem1, 4930568P13Rik

MMRRC Submission

040147-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.811) question?

Stock #

R2144 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

103453794-103498810 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 103475676 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 567 (A567V)

Ref Sequence

ENSEMBL: ENSMUSP00000035400 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047405] [ENSMUST00000229127]

AlphaFold

Q8K1X4

Predicted Effect

probably damaging
Transcript: ENSMUST00000047405
AA Change: A567V

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000035400
Gene: ENSMUSG00000022488
AA Change: A567V

Domain	Start	End	E-Value	Type
Pfam:Nckap1	7	1123	N/A	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000229127

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229468

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229835

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230276

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the HEM family of tissue-specific transmembrane proteins which are highly conserved from invertebrates through mammals. This gene is only expressed in hematopoietic cells. The encoded protein is a part of the Scar/WAVE complex which plays an important role in regulating cell shape in both metazoans and plants. Alternatively spliced transcript variants encoding different isoforms have been found.[provided by RefSeq, May 2010]
PHENOTYPE: Mice homozygous for an ENU-induced mutation exhibit anemia, lymphopenia, neutrophilia and tissue-specific pathology, defective neutrophil migration, phagocytosis and F-actin polymerization, abnormal B and T cell development, impaired T cell activation and adhesion, and enhanced IL-17 production. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 117 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930553M12Rik	G	A	4: 88,868,174	T69I	unknown	Het
4930553M12Rik	T	A	4: 88,868,175	T69S	unknown	Het
Acsl6	A	T	11: 54,341,778	Q485L	probably damaging	Het
Adam5	C	A	8: 24,815,480	V81F	probably benign	Het
Armc4	C	T	18: 7,127,229	E995K	probably damaging	Het
Atp5s	A	G	12: 69,741,054	Q88R	probably damaging	Het
Bag2	A	G	1: 33,746,831	S137P	possibly damaging	Het
Birc6	A	T	17: 74,660,413	Q4103L	possibly damaging	Het
Camta2	A	G	11: 70,671,575	F999L	probably benign	Het
Cap2	A	T	13: 46,560,502		probably null	Het
Ccnk	T	A	12: 108,189,090	L102Q	probably null	Het
Cd52	T	C	4: 134,093,737		probably benign	Het
Cdc123	A	T	2: 5,810,806	I160K	probably benign	Het
Cep85l	T	C	10: 53,358,126	N52S	probably benign	Het
Cntnap5a	C	T	1: 116,101,710	T298I	probably benign	Het
Cpsf4	G	T	5: 145,178,762	S192I	probably benign	Het
Cpxm1	A	G	2: 130,397,410	S33P	probably benign	Het
Cyp2a12	A	T	7: 27,034,769	T376S	possibly damaging	Het
Cyp3a16	A	G	5: 145,456,084	F137S	probably damaging	Het
Des	A	G	1: 75,366,804	T444A	probably benign	Het
Dgcr8	C	T	16: 18,284,256	G54D	probably damaging	Het
Doxl2	A	G	6: 48,975,291	H50R	probably benign	Het
Dsc3	A	G	18: 19,980,686	F393S	possibly damaging	Het
Dstyk	T	A	1: 132,463,375	M838K	probably damaging	Het
Dvl1	G	A	4: 155,847,816	V28I	possibly damaging	Het
Eml5	A	C	12: 98,810,605	F1417C	probably damaging	Het
Ep400	A	T	5: 110,703,518	M1366K	unknown	Het
Epg5	G	T	18: 77,954,197	C425F	possibly damaging	Het
Epha3	C	G	16: 63,773,317	R136P	possibly damaging	Het
Extl1	C	A	4: 134,371,044	E225D	probably benign	Het
Fam186b	A	G	15: 99,280,657	Y263H	probably benign	Het
Fbn2	A	G	18: 58,052,993	V1761A	possibly damaging	Het
Fer1l6	T	A	15: 58,627,534	M1251K	probably benign	Het
Gart	A	T	16: 91,630,081	I555N	probably damaging	Het
Gm11596	A	T	11: 99,792,963	C110*	probably null	Het
Gnptab	C	T	10: 88,428,506	S262L	possibly damaging	Het
Gpr21	T	C	2: 37,518,231	V263A	probably benign	Het
Gxylt1	T	C	15: 93,254,480	I224V	probably benign	Het
H2-Aa	A	G	17: 34,283,827	S122P	probably damaging	Het
Hsph1	A	C	5: 149,630,337		probably null	Het
Hunk	G	A	16: 90,432,532	D94N	probably damaging	Het
Ikbke	C	A	1: 131,273,474	V176L	probably damaging	Het
Inpp5k	A	T	11: 75,647,191		probably null	Het
Ints10	A	G	8: 68,796,805	T96A	probably damaging	Het
Kansl2	A	T	15: 98,526,631	V306E	probably benign	Het
Kif20a	A	G	18: 34,625,604	D42G	possibly damaging	Het
Klhl7	A	T	5: 24,100,863	M37L	probably benign	Het
Krtap1-5	T	C	11: 99,580,818	I50V	probably benign	Het
Ktn1	A	G	14: 47,714,652	E983G	probably damaging	Het
Lrrk1	G	A	7: 66,296,163	S566L	probably damaging	Het
M6pr	A	G	6: 122,315,367	M174V	probably benign	Het
Man2a2	A	G	7: 80,363,516	S510P	probably damaging	Het
Mmrn1	G	A	6: 60,945,075	S172N	possibly damaging	Het
Mpv17	A	G	5: 31,154,189		probably null	Het
Mrgpra9	T	C	7: 47,235,463	E152G	probably benign	Het
Mst1r	T	C	9: 107,913,168	V660A	probably benign	Het
Myof	A	G	19: 37,981,221		probably null	Het
Myrf	G	A	19: 10,228,674	P126L	probably benign	Het
Nphs1	A	G	7: 30,460,970	E169G	probably benign	Het
Npy1r	T	A	8: 66,705,184	V382D	probably benign	Het
Nrl	A	T	14: 55,520,850	M140K	possibly damaging	Het
Olfr1305	A	G	2: 111,873,423	I144T	probably damaging	Het
Olfr199	C	T	16: 59,216,026	V196M	probably benign	Het
Olfr292	T	A	7: 86,695,280	F275I	probably damaging	Het
Olfr694	A	T	7: 106,688,957	M258K	probably damaging	Het
Olfr924	C	T	9: 38,848,339	T75I	probably damaging	Het
Orc5	T	A	5: 22,547,927	L36F	possibly damaging	Het
Osbpl1a	A	T	18: 12,871,173	S396T	probably benign	Het
Pappa	T	A	4: 65,180,949	Y568*	probably null	Het
Pask	C	T	1: 93,321,297	A794T	probably benign	Het
Pclo	C	T	5: 14,858,752	L5025F	unknown	Het
Pde3a	T	C	6: 141,490,111	V924A	probably benign	Het
Pdpr	A	G	8: 111,118,036	N355S	probably damaging	Het
Pepd	A	T	7: 34,921,418	K36M	probably benign	Het
Pet100	T	G	8: 3,622,355	L14R	probably damaging	Het
Pfkfb2	T	C	1: 130,698,723	T438A	probably benign	Het
Pik3r6	T	A	11: 68,543,611	L546*	probably null	Het
Pira2	A	T	7: 3,844,345	L115Q	probably damaging	Het
Plxdc1	T	C	11: 97,934,012	Y339C	probably damaging	Het
Primpol	A	T	8: 46,586,343	M414K	probably damaging	Het
Prol1	A	T	5: 88,328,395	T215S	unknown	Het
Prss22	A	G	17: 23,994,682	Y212H	probably damaging	Het
Ralgapa2	C	A	2: 146,388,604	V1014L	probably damaging	Het
Rap1gap2	G	A	11: 74,425,976	T245M	probably damaging	Het
Rbm26	T	A	14: 105,115,202	R1009*	probably null	Het
Rbm42	A	G	7: 30,641,110	*450Q	probably null	Het
Rere	T	C	4: 150,616,931	V1256A	probably damaging	Het
Rmi1	G	T	13: 58,407,983	L15F	probably damaging	Het
Rnf213	T	C	11: 119,443,690	S3242P	probably damaging	Het
Rtel1	T	A	2: 181,323,706	V167E	probably damaging	Het
Scgb1b2	G	T	7: 31,291,763		probably benign	Het
Sin3b	T	C	8: 72,731,265	L203P	probably damaging	Het
Skint6	T	C	4: 113,236,260	S229G	possibly damaging	Het
Slco1a4	T	C	6: 141,809,378	Y566C	probably damaging	Het
Smgc	T	G	15: 91,844,421	D121E	possibly damaging	Het
Sned1	T	A	1: 93,271,684	F495L	probably damaging	Het
St7	A	T	6: 17,886,007	N52I	possibly damaging	Het
Sycn	C	A	7: 28,541,069	Q54K	probably benign	Het
Syngr4	A	G	7: 45,887,040	V186A	probably benign	Het
Tarsl2	G	A	7: 65,655,791	M254I	possibly damaging	Het
Tcaf2	A	T	6: 42,642,804	H96Q	probably benign	Het
Tcp11l2	T	C	10: 84,613,499	Y443H	probably damaging	Het
Tmem200c	A	T	17: 68,842,249	Q609L	possibly damaging	Het
Tmx3	G	A	18: 90,517,490	G83R	probably damaging	Het
Tpgs2	A	C	18: 25,168,541	V23G	possibly damaging	Het
Trhr	T	C	15: 44,197,183	V33A	probably benign	Het
Trim66	A	T	7: 109,475,113	I647N	probably damaging	Het
Trnt1	A	G	6: 106,778,039	K244E	probably damaging	Het
Tsfm	G	A	10: 127,028,445	Q134*	probably null	Het
Ttll9	A	G	2: 153,003,007	T432A	probably benign	Het
Vmn2r78	C	T	7: 86,954,482	L623F	probably damaging	Het
Wdr55	A	G	18: 36,762,366	N132S	possibly damaging	Het
Wipf2	A	T	11: 98,896,214	R356S	possibly damaging	Het
Wnk1	A	G	6: 119,948,988		probably benign	Het
Zfp260	A	G	7: 30,105,340	K222E	probably damaging	Het
Zfp300	A	G	X: 21,081,951	S525P	possibly damaging	Het
Zfp592	A	G	7: 81,038,202	T959A	probably benign	Het

Other mutations in Nckap1l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01548:Nckap1l	APN	15	103462720	missense	probably benign	0.42
IGL01818:Nckap1l	APN	15	103478282	missense	probably damaging	1.00
IGL01912:Nckap1l	APN	15	103474146	missense	probably benign	0.15
IGL01945:Nckap1l	APN	15	103461642	missense	probably damaging	1.00
IGL01947:Nckap1l	APN	15	103491015	missense	probably benign	0.32
IGL02218:Nckap1l	APN	15	103483527	missense	possibly damaging	0.47
IGL02317:Nckap1l	APN	15	103461578	missense	probably benign	0.05
IGL02376:Nckap1l	APN	15	103471231	missense	possibly damaging	0.95
IGL03263:Nckap1l	APN	15	103464405	missense	probably damaging	1.00
hem-haw	UTSW	15	103471232	nonsense	probably null
Sinstral	UTSW	15	103483613	missense	probably benign
stammer	UTSW	15	103473821	missense	possibly damaging	0.79
stutter	UTSW	15	103476099	critical splice donor site	probably null
tentative	UTSW	15	103474159	missense	probably damaging	0.98
IGL02802:Nckap1l	UTSW	15	103464536	missense	probably benign	0.03
R0016:Nckap1l	UTSW	15	103475636	missense	probably benign
R0016:Nckap1l	UTSW	15	103475636	missense	probably benign
R0114:Nckap1l	UTSW	15	103455028	missense	probably benign
R0137:Nckap1l	UTSW	15	103481964	missense	probably benign	0.01
R0375:Nckap1l	UTSW	15	103474159	missense	probably damaging	0.98
R0390:Nckap1l	UTSW	15	103453883	missense	probably damaging	1.00
R0412:Nckap1l	UTSW	15	103464652	missense	probably benign	0.01
R0467:Nckap1l	UTSW	15	103497427	missense	probably benign	0.02
R1245:Nckap1l	UTSW	15	103455925	missense	probably damaging	1.00
R1592:Nckap1l	UTSW	15	103482180	critical splice donor site	probably null
R1593:Nckap1l	UTSW	15	103478854	missense	probably null	0.00
R1879:Nckap1l	UTSW	15	103464601	missense	probably benign
R2081:Nckap1l	UTSW	15	103497454	missense	probably damaging	0.98
R2228:Nckap1l	UTSW	15	103455934	critical splice donor site	probably null
R2229:Nckap1l	UTSW	15	103455934	critical splice donor site	probably null
R2411:Nckap1l	UTSW	15	103483568	missense	probably damaging	1.00
R3965:Nckap1l	UTSW	15	103464589	nonsense	probably null
R3971:Nckap1l	UTSW	15	103462560	missense	probably damaging	1.00
R4270:Nckap1l	UTSW	15	103473122	missense	possibly damaging	0.96
R4348:Nckap1l	UTSW	15	103486819	missense	probably damaging	0.99
R4351:Nckap1l	UTSW	15	103486819	missense	probably damaging	0.99
R4748:Nckap1l	UTSW	15	103473056	missense	probably damaging	1.00
R4918:Nckap1l	UTSW	15	103483613	missense	probably benign
R5230:Nckap1l	UTSW	15	103483639	missense	probably benign	0.30
R5595:Nckap1l	UTSW	15	103475658	missense	possibly damaging	0.57
R5642:Nckap1l	UTSW	15	103455025	missense	probably benign	0.00
R5701:Nckap1l	UTSW	15	103472768	missense	probably benign	0.34
R6000:Nckap1l	UTSW	15	103478815	missense	probably benign	0.07
R6229:Nckap1l	UTSW	15	103473122	missense	possibly damaging	0.96
R6367:Nckap1l	UTSW	15	103475722	missense	probably benign	0.00
R6420:Nckap1l	UTSW	15	103491466	missense	possibly damaging	0.89
R6440:Nckap1l	UTSW	15	103471232	nonsense	probably null
R6957:Nckap1l	UTSW	15	103491511	missense	possibly damaging	0.91
R7023:Nckap1l	UTSW	15	103476066	missense	probably benign	0.11
R7083:Nckap1l	UTSW	15	103482124	missense	probably damaging	1.00
R7360:Nckap1l	UTSW	15	103476099	critical splice donor site	probably null
R7361:Nckap1l	UTSW	15	103471282	missense	possibly damaging	0.79
R7457:Nckap1l	UTSW	15	103453806	start gained	probably benign
R7582:Nckap1l	UTSW	15	103482160	missense	probably damaging	1.00
R7662:Nckap1l	UTSW	15	103462585	missense	probably damaging	0.99
R7699:Nckap1l	UTSW	15	103462821	splice site	probably null
R7951:Nckap1l	UTSW	15	103473115	missense	probably damaging	1.00
R8059:Nckap1l	UTSW	15	103493287	missense	possibly damaging	0.87
R8124:Nckap1l	UTSW	15	103473821	missense	possibly damaging	0.79
R8152:Nckap1l	UTSW	15	103478530	splice site	probably null
R8829:Nckap1l	UTSW	15	103478815	missense	probably benign
R8832:Nckap1l	UTSW	15	103478815	missense	probably benign
R9294:Nckap1l	UTSW	15	103473539	missense	probably damaging	1.00
R9338:Nckap1l	UTSW	15	103471564	missense	probably benign	0.00
R9668:Nckap1l	UTSW	15	103473850	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AGGTTAAGATTCTTTGGCTCCC -3'
(R):5'- TGAGCCACCCTCCTCTAAAG -3'

Sequencing Primer
(F):5'- CTTCTACCTCTAGGACAGAAAGAAGG -3'
(R):5'- AGATGTTTGGGACTTATTCCTGTTCC -3'

Posted On

2014-10-01