Mutagenetix > Incidental Mutation

Incidental Mutation 'R7361:Nckap1l'

571378

Institutional Source

Beutler Lab

Gene Symbol

Nckap1l

Ensembl Gene

ENSMUSG00000022488

Gene Name

NCK associated protein 1 like

Synonyms

Hem1, 4930568P13Rik

MMRRC Submission

045447-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.835) question?

Stock #

R7361 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

103362221-103407237 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 103379709 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Threonine at position 332 (N332T)

Ref Sequence

ENSEMBL: ENSMUSP00000035400 (fasta)

Gene Model

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

AlphaFold

Q8K1X4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000047405
AA Change: N332T

PolyPhen 2 Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000035400
Gene: ENSMUSG00000022488
AA Change: N332T

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

Predicted Effect

probably benign
Transcript: ENSMUST00000229127

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

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: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630073D07Rik	C	T	6: 132,604,434 (GRCm39)	V4I	unknown	Het
Actn1	A	T	12: 80,240,489 (GRCm39)	D199E	probably benign	Het
Adam17	T	C	12: 21,375,602 (GRCm39)	D739G	probably damaging	Het
Agmat	T	C	4: 141,474,163 (GRCm39)	S15P	probably benign	Het
Ahsa2	A	G	11: 23,441,099 (GRCm39)	S229P	probably damaging	Het
Arhgef3	A	G	14: 26,987,535 (GRCm39)	D36G	possibly damaging	Het
C6	C	A	15: 4,826,404 (GRCm39)	Y662*	probably null	Het
Ccs	T	C	19: 4,883,378 (GRCm39)	D140G	probably benign	Het
Cdc42bpb	A	G	12: 111,312,039 (GRCm39)	L65P	probably damaging	Het
Cdh24	A	T	14: 54,876,378 (GRCm39)	V149E	possibly damaging	Het
Cdk12	C	A	11: 98,101,294 (GRCm39)	S384*	probably null	Het
Cep350	G	A	1: 155,777,237 (GRCm39)	A1701V	probably damaging	Het
Ces1g	T	C	8: 94,060,307 (GRCm39)	Q104R	not run	Het
Chd5	A	G	4: 152,447,745 (GRCm39)	H537R	probably damaging	Het
Cln5	T	A	14: 103,313,339 (GRCm39)	V197D	probably damaging	Het
Coq7	A	G	7: 118,128,798 (GRCm39)	V79A	probably benign	Het
Cp	A	T	3: 20,018,470 (GRCm39)	N58I	probably benign	Het
Cplx2	A	T	13: 54,526,639 (GRCm39)	M16L	probably benign	Het
Crot	A	G	5: 9,027,534 (GRCm39)	L266S	probably damaging	Het
Ctbs	T	A	3: 146,164,509 (GRCm39)	Y221N	probably damaging	Het
Cul7	T	A	17: 46,967,933 (GRCm39)	L707Q	probably damaging	Het
D430041D05Rik	G	A	2: 104,085,363 (GRCm39)	T378I	possibly damaging	Het
Dixdc1	T	C	9: 50,599,953 (GRCm39)	I364V	probably damaging	Het
Dnah11	T	A	12: 117,982,477 (GRCm39)	H2564L	probably damaging	Het
Dnajc3	T	C	14: 119,175,576 (GRCm39)	Y26H	probably benign	Het
Dpysl2	G	A	14: 67,071,664 (GRCm39)	H159Y	possibly damaging	Het
Ehmt1	T	A	2: 24,746,713 (GRCm39)	K423I	possibly damaging	Het
Eif1ad4	A	G	12: 87,862,170 (GRCm39)	N11D	unknown	Het
Enpp7	A	G	11: 118,882,985 (GRCm39)	N353S	probably benign	Het
Ext1	G	A	15: 53,208,119 (GRCm39)	A214V	probably damaging	Het
Fbh1	A	T	2: 11,751,887 (GRCm39)	I937N	probably damaging	Het
Fbxo39	T	C	11: 72,207,800 (GRCm39)	Y51H	possibly damaging	Het
Firrm	A	T	1: 163,813,602 (GRCm39)	D207E	possibly damaging	Het
Fry	A	G	5: 150,360,312 (GRCm39)	H1986R	possibly damaging	Het
Grem2	T	C	1: 174,664,514 (GRCm39)	K112E	probably benign	Het
Gucy1a1	A	G	3: 82,005,027 (GRCm39)	V586A	probably damaging	Het
Il12rb2	G	T	6: 67,280,450 (GRCm39)	L586I	possibly damaging	Het
Il18	T	C	9: 50,490,614 (GRCm39)	I83T	probably damaging	Het
Irs1	A	T	1: 82,266,835 (GRCm39)	Y460*	probably null	Het
Jak1	G	T	4: 101,041,536 (GRCm39)	Q161K	possibly damaging	Het
Jakmip1	T	A	5: 37,276,148 (GRCm39)	L486Q	probably damaging	Het
Jmjd1c	C	A	10: 67,054,143 (GRCm39)	Q16K	probably benign	Het
Kidins220	T	C	12: 25,106,999 (GRCm39)	L1393P	probably benign	Het
Klhl24	A	C	16: 19,936,750 (GRCm39)	I453L	probably benign	Het
Krtap2-4	C	T	11: 99,505,420 (GRCm39)	D64N	probably damaging	Het
Man1a	T	A	10: 53,784,105 (GRCm39)	D592V	probably damaging	Het
Mepe	T	A	5: 104,485,009 (GRCm39)	Y50N	probably benign	Het
Mier3	G	A	13: 111,841,783 (GRCm39)	G115S	possibly damaging	Het
Muc4	T	A	16: 32,754,670 (GRCm38)	S1515T	probably benign	Het
Nalcn	T	C	14: 123,529,251 (GRCm39)	D1408G	probably benign	Het
Nav1	T	C	1: 135,380,591 (GRCm39)	M1443V	unknown	Het
Neurl4	T	A	11: 69,802,905 (GRCm39)	L1467Q	probably benign	Het
Notch2	A	G	3: 98,038,718 (GRCm39)	N1287S	probably benign	Het
Nr4a3	C	T	4: 48,083,203 (GRCm39)	P579S	probably benign	Het
Nrxn2	A	T	19: 6,567,112 (GRCm39)	H1329L	probably benign	Het
Nynrin	A	T	14: 56,107,857 (GRCm39)	H988L	possibly damaging	Het
Or1e34	T	A	11: 73,778,827 (GRCm39)	I124F	probably damaging	Het
Or4c31	A	G	2: 88,291,836 (GRCm39)	T70A	probably benign	Het
Or4c3d	A	G	2: 89,882,089 (GRCm39)	I193T	probably benign	Het
Or52e3	G	T	7: 102,869,830 (GRCm39)	D302Y	possibly damaging	Het
Or7g35	T	A	9: 19,495,856 (GRCm39)	F8I	probably benign	Het
Pclo	G	A	5: 14,843,882 (GRCm39)	S1534N	probably damaging	Het
Pign	A	G	1: 105,512,778 (GRCm39)	V635A	probably benign	Het
Pkhd1	T	C	1: 20,664,177 (GRCm39)	T134A	probably damaging	Het
Plcb4	A	T	2: 135,818,068 (GRCm39)	N790I	possibly damaging	Het
Plxna2	G	T	1: 194,482,087 (GRCm39)	C1453F	probably damaging	Het
Plxna4	A	G	6: 32,173,057 (GRCm39)		probably null	Het
Pnpla2	A	G	7: 141,037,344 (GRCm39)	I116V	possibly damaging	Het
Polq	A	G	16: 36,880,790 (GRCm39)	T985A	probably benign	Het
Pramel11	T	C	4: 143,622,456 (GRCm39)	T300A	possibly damaging	Het
Prex1	T	C	2: 166,555,490 (GRCm39)	N50S	probably benign	Het
Ptgfrn	G	A	3: 100,984,760 (GRCm39)	A144V	probably benign	Het
Rad54b	G	A	4: 11,599,782 (GRCm39)	G329S	probably damaging	Het
Rrbp1	A	G	2: 143,809,364 (GRCm39)	L931S	probably benign	Het
Saxo4	T	G	19: 10,456,943 (GRCm39)	D134A	probably damaging	Het
Sipa1l2	A	G	8: 126,180,071 (GRCm39)	S1109P	probably damaging	Het
Slc26a7	G	T	4: 14,546,305 (GRCm39)	N341K	probably damaging	Het
Smg1	A	C	7: 117,784,200 (GRCm39)	D958E	unknown	Het
Smg6	T	A	11: 74,820,979 (GRCm39)	S417T	probably benign	Het
Srgap3	A	G	6: 112,723,882 (GRCm39)	V550A	probably damaging	Het
Terb1	T	A	8: 105,195,431 (GRCm39)	D570V	probably damaging	Het
Tet3	A	G	6: 83,345,076 (GRCm39)	V1787A	probably benign	Het
Tor1a	A	T	2: 30,853,753 (GRCm39)	D192E	probably benign	Het
Tpr	T	C	1: 150,323,372 (GRCm39)	S2379P	possibly damaging	Het
Trip12	A	T	1: 84,728,163 (GRCm39)	F1138L	probably damaging	Het
Trpv1	T	C	11: 73,151,203 (GRCm39)	L797P	probably damaging	Het
Tut1	T	C	19: 8,942,698 (GRCm39)	L595P	probably damaging	Het
Ubl7	T	C	9: 57,821,905 (GRCm39)	S85P	probably damaging	Het
Urb1	C	A	16: 90,571,656 (GRCm39)	S1051I	probably damaging	Het
Usp17le	A	G	7: 104,418,084 (GRCm39)	W353R	probably damaging	Het
Usp44	T	C	10: 93,682,330 (GRCm39)	L260S	probably benign	Het
Wsb1	T	A	11: 79,131,623 (GRCm39)		probably null	Het
Xrcc2	A	T	5: 25,897,755 (GRCm39)	C65S	probably damaging	Het
Zfp316	T	A	5: 143,240,430 (GRCm39)	M530L	probably benign	Het
Zfp473	T	C	7: 44,382,563 (GRCm39)	H590R	probably damaging	Het
Zfp983	T	A	17: 21,880,850 (GRCm39)	H259Q	probably damaging	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
R5642:Nckap1l	UTSW	15	103,363,452 (GRCm39)	missense	probably benign	0.00
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
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'- AGAGCACAGTGGCCTCTAAG -3'
(R):5'- CCCCTGAAGTAGTGCAGAAG -3'

Sequencing Primer
(F):5'- TGGCCTCTAAGTCACAAGATGGC -3'
(R):5'- TGCAGAAGAGAGCAGCACTTG -3'

Posted On

2019-09-13