Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01548:Nckap1l'

93219

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

Essential gene?

Probably essential (E-score: 0.848) question?

Stock #

IGL01548

Quality Score

Status

Chromosome

Chromosomal Location

103453794-103498810 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 103462720 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 213 (V213D)

Ref Sequence

ENSEMBL: ENSMUSP00000154960 (fasta)

Gene Model

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

AlphaFold

Q8K1X4

Predicted Effect

probably benign
Transcript: ENSMUST00000047405
AA Change: V213D

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000035400
Gene: ENSMUSG00000022488
AA Change: V213D

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

Predicted Effect

probably benign
Transcript: ENSMUST00000229127
AA Change: V213D

PolyPhen 2 Score 0.422 (Sensitivity: 0.89; Specificity: 0.90)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229468

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930402H24Rik	T	C	2: 130,814,259	N110D	probably damaging	Het
Acot3	C	T	12: 84,057,089	T224I	probably benign	Het
Adamts18	C	T	8: 113,764,299	G512E	probably damaging	Het
Atp4b	A	G	8: 13,389,679	I181T	probably damaging	Het
Bcl11a	A	G	11: 24,163,346	I230V	probably benign	Het
Cenpj	C	A	14: 56,532,319	V1138L	probably benign	Het
Cep78	A	G	19: 15,981,200		probably benign	Het
Clec2j	T	A	6: 128,655,978		noncoding transcript	Het
Col5a3	T	C	9: 20,803,000		probably benign	Het
Cpne6	A	T	14: 55,512,726	T105S	probably damaging	Het
Csmd1	A	T	8: 16,288,646	Y482*	probably null	Het
Ctrl	C	A	8: 105,933,258		probably benign	Het
Dhcr24	T	A	4: 106,573,871	C252*	probably null	Het
Dnah17	G	A	11: 118,098,612	P1261S	probably benign	Het
Dnaic2	T	C	11: 114,752,942	L466P	probably damaging	Het
Dync2h1	A	T	9: 7,071,922	F3036Y	probably damaging	Het
Eef1akmt2	A	C	7: 132,831,405	S191A	probably damaging	Het
Fam205c	T	C	4: 42,868,564	E353G	probably benign	Het
Fat4	G	A	3: 39,009,257	C4454Y	probably damaging	Het
Fat4	T	C	3: 38,887,758	S267P	probably damaging	Het
Frrs1	T	C	3: 116,885,185	C219R	probably damaging	Het
Gabra6	T	A	11: 42,317,023	Q207L	probably damaging	Het
Gm19668	A	T	10: 77,798,408	C242*	probably null	Het
Gm2840	G	A	5: 96,174,277		noncoding transcript	Het
Gm6614	A	G	6: 141,992,512	I227T	possibly damaging	Het
Gm8765	A	G	13: 50,700,378	T91A	probably benign	Het
Gmcl1p1	G	A	X: 3,078,226	G423S	probably benign	Het
Golim4	C	T	3: 75,908,125		probably null	Het
Gucy1b1	G	T	3: 82,034,862	T530K	probably damaging	Het
Hacl1	A	T	14: 31,640,596	D31E	possibly damaging	Het
Hectd4	A	G	5: 121,364,660	T4276A	possibly damaging	Het
Henmt1	T	C	3: 108,942,779	I26T	probably damaging	Het
Hspa1l	G	A	17: 34,978,391	A469T	probably damaging	Het
Htra3	T	A	5: 35,664,076		probably null	Het
Lrrc28	C	A	7: 67,628,294		probably null	Het
Mfhas1	T	C	8: 35,590,459	L696P	probably damaging	Het
Mios	A	G	6: 8,234,252	K808E	possibly damaging	Het
Mtnr1b	A	G	9: 15,863,200	Y188H	probably damaging	Het
Myom1	A	G	17: 71,101,220		probably benign	Het
Naca	A	T	10: 128,040,904		probably benign	Het
Ndufa6	C	T	15: 82,354,081	V50M	possibly damaging	Het
Olfr1000	A	G	2: 85,608,761	W50R	probably benign	Het
Olfr1055	T	A	2: 86,347,733	Y11F	possibly damaging	Het
Olfr1260	T	A	2: 89,978,539	F254I	possibly damaging	Het
Olfr1465	A	G	19: 13,313,986	F100L	possibly damaging	Het
Olfr923	A	G	9: 38,828,350	T220A	probably benign	Het
Osbpl1a	T	C	18: 12,763,575	Y311C	probably damaging	Het
Parp11	A	C	6: 127,491,599	Y204S	probably damaging	Het
Pla2g4a	A	G	1: 149,932,656		probably null	Het
Plec	T	C	15: 76,189,258	R519G	probably benign	Het
Ppp2r5c	T	A	12: 110,567,827	Y375N	probably benign	Het
Prss35	C	A	9: 86,755,274	S32R	probably benign	Het
Prss57	C	T	10: 79,785,747		probably benign	Het
Ptprc	A	C	1: 138,099,481		probably null	Het
Rims1	A	G	1: 22,538,602	C188R	probably damaging	Het
Ripk4	G	T	16: 97,751,496	Y144*	probably null	Het
Rpgrip1	A	T	14: 52,126,271		probably benign	Het
Rps6ka4	A	G	19: 6,832,323	V378A	probably benign	Het
Rtf1	A	G	2: 119,712,108	K298E	probably benign	Het
Sdk1	T	C	5: 142,085,765	F1237L	possibly damaging	Het
Slc40a1	T	C	1: 45,909,492	K543E	probably benign	Het
Sorcs3	A	T	19: 48,794,168	I1041F	possibly damaging	Het
Taok3	T	C	5: 117,272,197	M818T	probably benign	Het
Tas2r119	T	A	15: 32,177,977	F230I	probably damaging	Het
Tbc1d8	T	C	1: 39,381,304	D716G	probably damaging	Het
Tfg	A	G	16: 56,701,102	S58P	probably damaging	Het
Thnsl1	A	G	2: 21,213,132	I45V	probably damaging	Het
Tle1	A	G	4: 72,170,718	L96P	probably damaging	Het
Tmem260	A	C	14: 48,480,325	S276R	possibly damaging	Het
Utp20	A	G	10: 88,764,781	S24P	probably damaging	Het
Vcam1	T	C	3: 116,115,951	I576V	probably benign	Het
Vmn1r27	G	T	6: 58,215,553	N105K	probably benign	Het
Vmn2r12	A	C	5: 109,093,027	Y73*	probably null	Het
Vmn2r86	T	C	10: 130,446,282	I822V	probably benign	Het
Wdr6	C	T	9: 108,574,897	V596I	possibly damaging	Het
Zfp946	A	T	17: 22,454,662	K132N	possibly damaging	Het

Other mutations in Nckap1l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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
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

Posted On

2013-12-09