Mutagenetix > Incidental Mutation

Incidental Mutation 'R5642:Nckap1l'

440788

Institutional Source

Beutler Lab

Gene Symbol

Nckap1l

Ensembl Gene

ENSMUSG00000022488

Gene Name

NCK associated protein 1 like

Synonyms

Hem1, 4930568P13Rik

MMRRC Submission

043290-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.852) question?

Stock #

R5642 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

103362221-103407237 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 103363452 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 53 (S53P)

Ref Sequence

ENSEMBL: ENSMUSP00000035400 (fasta)

Gene Model

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

AlphaFold

Q8K1X4

Predicted Effect

probably benign
Transcript: ENSMUST00000047405
AA Change: S53P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000035400
Gene: ENSMUSG00000022488
AA Change: S53P

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

Predicted Effect

probably benign
Transcript: ENSMUST00000229127
AA Change: S53P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229468

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 94.8%

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc1	A	G	16: 14,261,319 (GRCm39)	E699G	probably damaging	Het
Ap4e1	T	A	2: 126,906,899 (GRCm39)	V1053D	possibly damaging	Het
Apobec1	T	A	6: 122,558,456 (GRCm39)	I100F	probably damaging	Het
Atp6v1g3	G	T	1: 138,211,480 (GRCm39)	K53N	probably damaging	Het
Bag3	C	T	7: 128,147,830 (GRCm39)	R482W	probably damaging	Het
Brme1	C	T	8: 84,894,114 (GRCm39)	T427I	probably damaging	Het
Cacna1i	A	G	15: 80,279,279 (GRCm39)	T2007A	possibly damaging	Het
Cd44	T	C	2: 102,731,687 (GRCm39)	D2G	probably damaging	Het
Cdadc1	T	A	14: 59,827,372 (GRCm39)	I100F	possibly damaging	Het
Cdh16	A	G	8: 105,344,677 (GRCm39)	F485L	probably damaging	Het
Cdhr5	T	A	7: 140,849,110 (GRCm39)	K817*	probably null	Het
Cfap46	G	T	7: 139,258,493 (GRCm39)	P260Q	probably damaging	Het
Clec11a	C	T	7: 43,955,832 (GRCm39)	E72K	possibly damaging	Het
Cnr2	C	A	4: 135,644,076 (GRCm39)	N51K	probably damaging	Het
Col3a1	T	A	1: 45,370,872 (GRCm39)		probably benign	Het
Cxcr1	G	A	1: 74,230,987 (GRCm39)	T345M	probably damaging	Het
Cyp2s1	T	C	7: 25,515,744 (GRCm39)		probably null	Het
Dalrd3	C	T	9: 108,449,489 (GRCm39)	T474M	probably damaging	Het
Ddit4	C	T	10: 59,787,327 (GRCm39)	S3N	probably benign	Het
Ddx41	T	C	13: 55,683,708 (GRCm39)	K108E	possibly damaging	Het
Dnaaf10	A	G	11: 17,177,263 (GRCm39)	N207S	possibly damaging	Het
Ece2	A	T	16: 20,462,477 (GRCm39)	H732L	probably benign	Het
Etv3	T	G	3: 87,443,322 (GRCm39)	L302R	possibly damaging	Het
Fam135b	A	G	15: 71,333,985 (GRCm39)	S1070P	probably damaging	Het
Fhip1b	A	T	7: 105,039,089 (GRCm39)	I50N	probably damaging	Het
Gm11567	T	A	11: 99,770,437 (GRCm39)	I125N	unknown	Het
Grm3	A	G	5: 9,620,536 (GRCm39)	L236P	probably benign	Het
Hip1	T	A	5: 135,461,939 (GRCm39)	R97*	probably null	Het
Hoxa5	T	C	6: 52,181,197 (GRCm39)	Y45C	probably damaging	Het
Ighg1	T	A	12: 113,292,654 (GRCm39)	H305L	probably damaging	Het
Inpp5b	T	A	4: 124,676,229 (GRCm39)	C362S	probably benign	Het
Kif1c	A	G	11: 70,599,273 (GRCm39)	K391E	probably benign	Het
Klf9	T	C	19: 23,119,246 (GRCm39)	V43A	probably benign	Het
Krt28	T	A	11: 99,265,320 (GRCm39)	I116F	probably damaging	Het
Lct	A	T	1: 128,222,969 (GRCm39)	D1439E	probably damaging	Het
Liph	G	A	16: 21,784,745 (GRCm39)	T284M	possibly damaging	Het
Lrrc75b	T	C	10: 75,393,055 (GRCm39)	K98R	possibly damaging	Het
Lypd4	T	C	7: 24,564,604 (GRCm39)	Q178R	probably benign	Het
Map1a	T	A	2: 121,136,524 (GRCm39)	S2209T	probably damaging	Het
Map3k21	C	T	8: 126,665,563 (GRCm39)	T584I	probably benign	Het
Map3k6	T	C	4: 132,972,855 (GRCm39)	V338A	probably damaging	Het
Mapk8ip3	A	T	17: 25,122,285 (GRCm39)	V699E	possibly damaging	Het
Mtarc1	A	C	1: 184,543,116 (GRCm39)	S71A	probably damaging	Het
Nt5e	T	C	9: 88,209,740 (GRCm39)	M1T	probably null	Het
Nudt22	T	C	19: 6,972,896 (GRCm39)	H64R	probably damaging	Het
Or1o11	A	T	17: 37,756,663 (GRCm39)	T84S	probably damaging	Het
Or2t44	A	T	11: 58,677,654 (GRCm39)	Y198F	probably damaging	Het
Or2w3	T	C	11: 58,557,225 (GRCm39)	I280T	possibly damaging	Het
Or52b1	A	T	7: 104,978,772 (GRCm39)	V209D	probably damaging	Het
Or5ac16	A	G	16: 59,022,369 (GRCm39)	L140P	probably damaging	Het
Or8k17	T	C	2: 86,066,276 (GRCm39)	N294S	probably damaging	Het
Otogl	T	C	10: 107,722,413 (GRCm39)	I314V	probably benign	Het
Pan2	G	T	10: 128,143,969 (GRCm39)	E106D	probably benign	Het
Papss1	T	A	3: 131,337,565 (GRCm39)	Y554*	probably null	Het
Pcnx1	T	C	12: 81,941,803 (GRCm39)	V67A	possibly damaging	Het
Pdpk1	A	C	17: 24,325,829 (GRCm39)	Y122*	probably null	Het
Pkd1l1	A	T	11: 8,829,202 (GRCm39)	N1463K	probably damaging	Het
Ptgfrn	C	A	3: 100,950,678 (GRCm39)	M878I	probably damaging	Het
Ranbp3	G	A	17: 57,017,703 (GRCm39)	G453E	probably benign	Het
Rapgef2	T	C	3: 79,002,157 (GRCm39)	D261G	probably damaging	Het
Reep2	A	G	18: 34,979,271 (GRCm39)	S199G	probably benign	Het
Rnpep	G	A	1: 135,205,259 (GRCm39)	T202I	probably damaging	Het
Sass6	T	A	3: 116,401,145 (GRCm39)		probably null	Het
Sema3e	A	G	5: 14,212,257 (GRCm39)	D111G	probably damaging	Het
Slc29a4	A	G	5: 142,697,727 (GRCm39)	E60G	probably damaging	Het
Spata31g1	T	C	4: 42,971,831 (GRCm39)	L388P	possibly damaging	Het
Spata31h1	T	A	10: 82,120,317 (GRCm39)	Q4231L	probably damaging	Het
Sptlc3	T	C	2: 139,388,328 (GRCm39)	Y107H	probably damaging	Het
Stx6	T	C	1: 155,073,925 (GRCm39)	I245T	probably benign	Het
Syne2	T	C	12: 75,965,306 (GRCm39)	S774P	probably damaging	Het
Tbc1d16	T	A	11: 119,049,617 (GRCm39)	Q293L	probably damaging	Het
Tbc1d30	T	C	10: 121,132,692 (GRCm39)	D224G	probably damaging	Het
Tbc1d32	T	A	10: 56,026,973 (GRCm39)	N759Y	possibly damaging	Het
Tdrd12	G	T	7: 35,210,725 (GRCm39)	A166E	probably damaging	Het
Tex14	A	G	11: 87,405,046 (GRCm39)	R653G	probably benign	Het
Them6	A	T	15: 74,593,654 (GRCm39)	R171W	probably null	Het
Tln2	T	C	9: 67,203,640 (GRCm39)	T489A	probably benign	Het
Tmem87a	A	G	2: 120,234,427 (GRCm39)	F39L	probably benign	Het
Toporsl	T	A	4: 52,611,515 (GRCm39)	C469*	probably null	Het
Tpr	T	C	1: 150,299,569 (GRCm39)	S1147P	probably damaging	Het
Trp53bp1	T	C	2: 121,067,143 (GRCm39)	M528V	probably benign	Het
Trpm6	T	A	19: 18,807,571 (GRCm39)	C1039S	probably damaging	Het
Ttc16	T	A	2: 32,665,348 (GRCm39)	S5C	probably damaging	Het
Ttn	T	C	2: 76,617,412 (GRCm39)	Y14607C	probably damaging	Het
Usp6nl	T	C	2: 6,435,275 (GRCm39)	F345L	probably damaging	Het
Vmn1r205	C	T	13: 22,776,206 (GRCm39)	G299R	probably benign	Het
Vmn2r74	G	A	7: 85,606,588 (GRCm39)	H253Y	probably benign	Het
Vps13d	A	T	4: 144,896,872 (GRCm39)	D343E	possibly damaging	Het
Vwf	A	G	6: 125,580,381 (GRCm39)	E543G		Het
Zfat	A	T	15: 68,052,765 (GRCm39)	V343E	probably damaging	Het
Zfp316	T	C	5: 143,249,846 (GRCm39)	E139G	unknown	Het
Zfp943	T	A	17: 22,211,813 (GRCm39)	C300S	probably damaging	Het
Zkscan16	A	G	4: 58,957,748 (GRCm39)	K677E	probably benign	Het

Other mutations in Nckap1l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01548:Nckap1l	APN	15	103,371,147 (GRCm39)	missense	probably benign	0.42
IGL01818:Nckap1l	APN	15	103,386,709 (GRCm39)	missense	probably damaging	1.00
IGL01912:Nckap1l	APN	15	103,382,573 (GRCm39)	missense	probably benign	0.15
IGL01945:Nckap1l	APN	15	103,370,069 (GRCm39)	missense	probably damaging	1.00
IGL01947:Nckap1l	APN	15	103,399,442 (GRCm39)	missense	probably benign	0.32
IGL02218:Nckap1l	APN	15	103,391,954 (GRCm39)	missense	possibly damaging	0.47
IGL02317:Nckap1l	APN	15	103,370,005 (GRCm39)	missense	probably benign	0.05
IGL02376:Nckap1l	APN	15	103,379,658 (GRCm39)	missense	possibly damaging	0.95
IGL03263:Nckap1l	APN	15	103,372,832 (GRCm39)	missense	probably damaging	1.00
hem-haw	UTSW	15	103,379,659 (GRCm39)	nonsense	probably null
Sinstral	UTSW	15	103,392,040 (GRCm39)	missense	probably benign
stammer	UTSW	15	103,382,248 (GRCm39)	missense	possibly damaging	0.79
stutter	UTSW	15	103,384,526 (GRCm39)	critical splice donor site	probably null
tentative	UTSW	15	103,382,586 (GRCm39)	missense	probably damaging	0.98
IGL02802:Nckap1l	UTSW	15	103,372,963 (GRCm39)	missense	probably benign	0.03
R0016:Nckap1l	UTSW	15	103,384,063 (GRCm39)	missense	probably benign
R0016:Nckap1l	UTSW	15	103,384,063 (GRCm39)	missense	probably benign
R0114:Nckap1l	UTSW	15	103,363,455 (GRCm39)	missense	probably benign
R0137:Nckap1l	UTSW	15	103,390,391 (GRCm39)	missense	probably benign	0.01
R0375:Nckap1l	UTSW	15	103,382,586 (GRCm39)	missense	probably damaging	0.98
R0390:Nckap1l	UTSW	15	103,362,310 (GRCm39)	missense	probably damaging	1.00
R0412:Nckap1l	UTSW	15	103,373,079 (GRCm39)	missense	probably benign	0.01
R0467:Nckap1l	UTSW	15	103,405,854 (GRCm39)	missense	probably benign	0.02
R1245:Nckap1l	UTSW	15	103,364,352 (GRCm39)	missense	probably damaging	1.00
R1592:Nckap1l	UTSW	15	103,390,607 (GRCm39)	critical splice donor site	probably null
R1593:Nckap1l	UTSW	15	103,387,281 (GRCm39)	missense	probably null	0.00
R1879:Nckap1l	UTSW	15	103,373,028 (GRCm39)	missense	probably benign
R2081:Nckap1l	UTSW	15	103,405,881 (GRCm39)	missense	probably damaging	0.98
R2144:Nckap1l	UTSW	15	103,384,103 (GRCm39)	missense	probably damaging	0.96
R2228:Nckap1l	UTSW	15	103,364,361 (GRCm39)	critical splice donor site	probably null
R2229:Nckap1l	UTSW	15	103,364,361 (GRCm39)	critical splice donor site	probably null
R2411:Nckap1l	UTSW	15	103,391,995 (GRCm39)	missense	probably damaging	1.00
R3965:Nckap1l	UTSW	15	103,373,016 (GRCm39)	nonsense	probably null
R3971:Nckap1l	UTSW	15	103,370,987 (GRCm39)	missense	probably damaging	1.00
R4270:Nckap1l	UTSW	15	103,381,549 (GRCm39)	missense	possibly damaging	0.96
R4348:Nckap1l	UTSW	15	103,395,246 (GRCm39)	missense	probably damaging	0.99
R4351:Nckap1l	UTSW	15	103,395,246 (GRCm39)	missense	probably damaging	0.99
R4748:Nckap1l	UTSW	15	103,381,483 (GRCm39)	missense	probably damaging	1.00
R4918:Nckap1l	UTSW	15	103,392,040 (GRCm39)	missense	probably benign
R5230:Nckap1l	UTSW	15	103,392,066 (GRCm39)	missense	probably benign	0.30
R5595:Nckap1l	UTSW	15	103,384,085 (GRCm39)	missense	possibly damaging	0.57
R5701:Nckap1l	UTSW	15	103,381,195 (GRCm39)	missense	probably benign	0.34
R6000:Nckap1l	UTSW	15	103,387,242 (GRCm39)	missense	probably benign	0.07
R6229:Nckap1l	UTSW	15	103,381,549 (GRCm39)	missense	possibly damaging	0.96
R6367:Nckap1l	UTSW	15	103,384,149 (GRCm39)	missense	probably benign	0.00
R6420:Nckap1l	UTSW	15	103,399,893 (GRCm39)	missense	possibly damaging	0.89
R6440:Nckap1l	UTSW	15	103,379,659 (GRCm39)	nonsense	probably null
R6957:Nckap1l	UTSW	15	103,399,938 (GRCm39)	missense	possibly damaging	0.91
R7023:Nckap1l	UTSW	15	103,384,493 (GRCm39)	missense	probably benign	0.11
R7083:Nckap1l	UTSW	15	103,390,551 (GRCm39)	missense	probably damaging	1.00
R7360:Nckap1l	UTSW	15	103,384,526 (GRCm39)	critical splice donor site	probably null
R7361:Nckap1l	UTSW	15	103,379,709 (GRCm39)	missense	possibly damaging	0.79
R7457:Nckap1l	UTSW	15	103,362,233 (GRCm39)	start gained	probably benign
R7582:Nckap1l	UTSW	15	103,390,587 (GRCm39)	missense	probably damaging	1.00
R7662:Nckap1l	UTSW	15	103,371,012 (GRCm39)	missense	probably damaging	0.99
R7699:Nckap1l	UTSW	15	103,371,248 (GRCm39)	splice site	probably null
R7951:Nckap1l	UTSW	15	103,381,542 (GRCm39)	missense	probably damaging	1.00
R8059:Nckap1l	UTSW	15	103,401,714 (GRCm39)	missense	possibly damaging	0.87
R8124:Nckap1l	UTSW	15	103,382,248 (GRCm39)	missense	possibly damaging	0.79
R8152:Nckap1l	UTSW	15	103,386,957 (GRCm39)	splice site	probably null
R8829:Nckap1l	UTSW	15	103,387,242 (GRCm39)	missense	probably benign
R8832:Nckap1l	UTSW	15	103,387,242 (GRCm39)	missense	probably benign
R9294:Nckap1l	UTSW	15	103,381,966 (GRCm39)	missense	probably damaging	1.00
R9338:Nckap1l	UTSW	15	103,379,991 (GRCm39)	missense	probably benign	0.00
R9668:Nckap1l	UTSW	15	103,382,277 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AGTTCACTGTCTGGAACGAAC -3'
(R):5'- CCGAGTCTGAGTCTAGGAAAC -3'

Sequencing Primer
(F):5'- GGAACGAACTTGGTTTTCAACTACCC -3'
(R):5'- TCTAGGAAACTATAGGTGGCTACAC -3'

Posted On

2016-11-08