Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01912:Nckap1l'

179830

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nckap1l

Ensembl Gene

ENSMUSG00000022488

Gene Name

NCK associated protein 1 like

Synonyms

Hem1, 4930568P13Rik

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.662) question?

Stock #

IGL01912

Quality Score

Status

Chromosome

Chromosomal Location

103453794-103498810 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 103474146 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Methionine at position 525 (L525M)

Ref Sequence

ENSEMBL: ENSMUSP00000035400 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000047405
AA Change: L525M

PolyPhen 2 Score 0.149 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000035400
Gene: ENSMUSG00000022488
AA Change: L525M

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

Coding Region Coverage

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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc8	A	T	7: 46,120,510	D860E	probably damaging	Het
Actl11	C	A	9: 107,929,645	P389Q	probably damaging	Het
Bsg	G	T	10: 79,710,140	G103W	probably null	Het
Camk2d	T	A	3: 126,810,632		probably null	Het
Clcn7	T	C	17: 25,153,009		probably benign	Het
Dctd	C	T	8: 48,111,662		probably benign	Het
Dpy19l1	C	T	9: 24,485,069	R117Q	probably damaging	Het
Esyt2	T	C	12: 116,339,609	I289T	probably damaging	Het
Exoc6b	A	C	6: 84,625,174	C753G	probably damaging	Het
Gm10718	A	T	9: 3,025,118	Y194F	probably benign	Het
Gm21738	G	A	14: 19,416,979	S144L	probably benign	Het
Gm3633	T	C	14: 42,640,786		probably benign	Het
Hrh3	A	T	2: 180,101,376	V153D	probably damaging	Het
Krt77	T	A	15: 101,863,851		probably benign	Het
Nat3	T	A	8: 67,547,746	C92*	probably null	Het
Nrp2	T	A	1: 62,771,737	C646S	probably damaging	Het
Olfr512	T	C	7: 108,714,258	Y290H	possibly damaging	Het
Olfr659	T	C	7: 104,671,233	I177T	possibly damaging	Het
Olfr698	T	A	7: 106,752,992	Y132F	probably damaging	Het
Orc1	T	C	4: 108,590,744	Y63H	probably damaging	Het
Otud4	T	C	8: 79,673,837	V1059A	probably benign	Het
Ptprm	A	G	17: 67,046,118	V235A	probably benign	Het
Rab3ip	G	T	10: 116,907,092	Q443K	probably benign	Het
Tnc	C	A	4: 64,008,740	D850Y	probably damaging	Het
Ubxn2b	T	A	4: 6,203,767		probably null	Het
Vmn1r233	T	A	17: 20,994,205	Y161F	probably benign	Het
Vmn1r54	T	C	6: 90,269,460	S119P	probably damaging	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
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
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
R2144:Nckap1l	UTSW	15	103475676	missense	probably damaging	0.96
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

Posted On

2014-05-07