Mutagenetix > Incidental Mutation

Incidental Mutation 'R0137:Nckap1l'

22065

Institutional Source

Beutler Lab

Gene Symbol

Nckap1l

Ensembl Gene

ENSMUSG00000022488

Gene Name

NCK associated protein 1 like

Synonyms

Hem1, 4930568P13Rik

MMRRC Submission

038422-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.852) question?

Stock #

R0137 (G1)

Quality Score

191

Status

Validated (trace)

Chromosome

Chromosomal Location

103362221-103407237 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 103390391 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 721 (I721F)

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: I721F

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000035400
Gene: ENSMUSG00000022488
AA Change: I721F

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

Meta Mutation Damage Score

0.1018

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.1%
20x: 91.8%

Validation Efficiency

95% (94/99)

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430548M08Rik	A	T	8: 120,878,115 (GRCm39)	H190L	possibly damaging	Het
Adap1	A	G	5: 139,278,976 (GRCm39)		probably benign	Het
Adgra3	C	T	5: 50,121,182 (GRCm39)		probably benign	Het
Adgre5	A	T	8: 84,451,527 (GRCm39)	V527E	probably damaging	Het
Anapc5	A	T	5: 122,938,695 (GRCm39)	Y360N	probably damaging	Het
Angptl6	C	A	9: 20,789,683 (GRCm39)	A70S	probably benign	Het
Ankdd1a	C	A	9: 65,417,610 (GRCm39)	K137N	probably null	Het
Ccdc170	T	C	10: 4,496,950 (GRCm39)		probably benign	Het
Ccdc51	A	G	9: 108,920,698 (GRCm39)	E195G	probably damaging	Het
Cdc37	A	T	9: 21,053,426 (GRCm39)	C204S	possibly damaging	Het
Cfap36	T	C	11: 29,172,431 (GRCm39)		probably benign	Het
Col6a2	C	A	10: 76,432,259 (GRCm39)	G965C	probably damaging	Het
Csn1s2a	G	A	5: 87,926,826 (GRCm39)	S53N	possibly damaging	Het
Dab2ip	T	C	2: 35,582,388 (GRCm39)		probably null	Het
Dhx58	A	G	11: 100,587,823 (GRCm39)	V578A	probably damaging	Het
Diaph1	G	T	18: 38,024,902 (GRCm39)	Q520K	unknown	Het
Eefsec	C	A	6: 88,274,631 (GRCm39)	K444N	probably benign	Het
Eftud2	A	T	11: 102,759,443 (GRCm39)	H153Q	possibly damaging	Het
Eif5b	T	G	1: 38,058,324 (GRCm39)	S209A	probably benign	Het
Exosc2	T	A	2: 31,562,497 (GRCm39)	Y46N	probably damaging	Het
F2	C	T	2: 91,456,075 (GRCm39)	G562D	probably damaging	Het
Fgf23	G	A	6: 127,057,128 (GRCm39)	G148D	probably damaging	Het
Fmnl3	G	C	15: 99,220,619 (GRCm39)		probably benign	Het
Fstl5	G	A	3: 76,614,786 (GRCm39)	G179R	probably damaging	Het
Garre1	A	T	7: 33,938,644 (GRCm39)	W246R	probably damaging	Het
Gart	T	A	16: 91,422,282 (GRCm39)	Q745L	probably benign	Het
Gmeb1	T	A	4: 131,959,419 (GRCm39)	M212L	probably benign	Het
Gpaa1	T	C	15: 76,218,981 (GRCm39)	Y548H	probably damaging	Het
Gpatch1	T	C	7: 34,986,667 (GRCm39)	E763G	probably damaging	Het
Grm8	T	A	6: 27,762,389 (GRCm39)	I279F	probably damaging	Het
Hcls1	T	A	16: 36,771,536 (GRCm39)	H147Q	probably damaging	Het
Hpcal1	A	C	12: 17,836,389 (GRCm39)	D73A	probably damaging	Het
Il22ra1	T	C	4: 135,478,317 (GRCm39)	S463P	probably benign	Het
Itgbl1	G	A	14: 124,078,098 (GRCm39)		probably null	Het
Izumo3	G	T	4: 92,035,437 (GRCm39)		probably benign	Het
Kcna5	A	T	6: 126,510,346 (GRCm39)	L594Q	probably damaging	Het
Kif13a	A	T	13: 46,918,079 (GRCm39)	D409E	probably benign	Het
Kif9	A	T	9: 110,314,106 (GRCm39)	I39F	probably damaging	Het
Klri2	C	T	6: 129,709,171 (GRCm39)	R227H	possibly damaging	Het
Lamc3	G	A	2: 31,798,628 (GRCm39)	G445S	probably damaging	Het
Lctl	A	G	9: 64,024,980 (GRCm39)		probably benign	Het
Lrp4	T	C	2: 91,325,327 (GRCm39)	L1384P	probably damaging	Het
Mcm9	G	A	10: 53,439,526 (GRCm39)	S549L	possibly damaging	Het
Ms4a15	G	A	19: 10,956,697 (GRCm39)		probably benign	Het
Mtor	T	C	4: 148,555,081 (GRCm39)	V901A	possibly damaging	Het
Nemp2	T	C	1: 52,684,588 (GRCm39)	V298A	probably benign	Het
Npc1l1	T	A	11: 6,178,148 (GRCm39)	K421*	probably null	Het
Npr1	C	T	3: 90,363,244 (GRCm39)	V879M	probably damaging	Het
Odad4	A	G	11: 100,454,394 (GRCm39)	E393G	probably damaging	Het
Or2ad1	A	G	13: 21,326,336 (GRCm39)	V297A	possibly damaging	Het
Or51q1c	A	G	7: 103,652,709 (GRCm39)	T82A	probably benign	Het
Osgin1	A	T	8: 120,169,219 (GRCm39)	I39F	possibly damaging	Het
Phip	G	C	9: 82,809,244 (GRCm39)		probably null	Het
Pkdrej	G	T	15: 85,705,768 (GRCm39)	P56Q	possibly damaging	Het
Plcxd2	A	G	16: 45,800,889 (GRCm39)	Y112H	probably damaging	Het
Plekha1	C	T	7: 130,499,176 (GRCm39)	T155M	probably damaging	Het
Prkdc	T	C	16: 15,558,196 (GRCm39)		probably null	Het
Prss1	A	G	6: 41,439,495 (GRCm39)	H76R	probably damaging	Het
Psg23	T	C	7: 18,348,558 (GRCm39)	D83G	probably benign	Het
Ptprd	T	A	4: 76,055,140 (GRCm39)	Q196L	probably benign	Het
Ranbp3l	A	T	15: 9,063,067 (GRCm39)	H292L	probably damaging	Het
Ranbp6	T	C	19: 29,787,097 (GRCm39)	E1085G	probably benign	Het
Rccd1	A	G	7: 79,970,326 (GRCm39)	V97A	possibly damaging	Het
Rchy1	T	C	5: 92,105,458 (GRCm39)	S48G	probably benign	Het
Rnmt	G	A	18: 68,446,771 (GRCm39)	M265I	probably benign	Het
Robo3	A	T	9: 37,336,640 (GRCm39)	M376K	probably benign	Het
Rrp12	T	C	19: 41,862,289 (GRCm39)	D898G	probably benign	Het
Scg3	A	T	9: 75,570,462 (GRCm39)		probably benign	Het
Sec31b	A	T	19: 44,522,821 (GRCm39)	M57K	probably damaging	Het
Slc17a6	A	C	7: 51,315,892 (GRCm39)	I387L	probably benign	Het
Speer4a1	T	A	5: 26,240,982 (GRCm39)	Q170L	possibly damaging	Het
Srsf9	A	G	5: 115,470,260 (GRCm39)	D146G	possibly damaging	Het
Ss18	A	G	18: 14,788,200 (GRCm39)	M90T	probably damaging	Het
Syna	A	T	5: 134,588,314 (GRCm39)	F212I	possibly damaging	Het
Tex54	A	G	19: 8,718,221 (GRCm39)		probably benign	Het
Thsd1	A	G	8: 22,733,055 (GRCm39)	H34R	probably damaging	Het
Tmem143	T	C	7: 45,547,086 (GRCm39)	I84T	probably benign	Het
Trim50	T	C	5: 135,395,487 (GRCm39)	V281A	probably damaging	Het
Trp53i11	C	A	2: 93,029,696 (GRCm39)		probably benign	Het
Ttll4	C	T	1: 74,718,851 (GRCm39)	T234I	possibly damaging	Het
Ttyh1	A	T	7: 4,127,719 (GRCm39)	I136F	possibly damaging	Het
Ube2f	T	C	1: 91,189,976 (GRCm39)		probably benign	Het
Vcl	T	A	14: 21,037,083 (GRCm39)	L227*	probably null	Het
Vmn1r222	A	C	13: 23,416,974 (GRCm39)	C80G	probably damaging	Het
Vps13b	G	T	15: 35,926,365 (GRCm39)	A3889S	probably benign	Het
Vps8	T	C	16: 21,323,136 (GRCm39)		probably benign	Het
Zbtb44	A	G	9: 30,978,006 (GRCm39)	Y422C	probably damaging	Het
Zfp180	A	G	7: 23,805,158 (GRCm39)	S526G	possibly damaging	Het
Zfp518a	A	C	19: 40,904,310 (GRCm39)	E1413A	probably damaging	Het
Zfp629	T	A	7: 127,210,858 (GRCm39)	Y317F	probably damaging	Het
Zfp804b	T	C	5: 6,820,534 (GRCm39)	E843G	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
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
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'- TCCATTCTTGGCAGAAGTTGGGAC -3'
(R):5'- AGGAGGGCATTGCGAACGATTC -3'

Sequencing Primer
(F):5'- gaatcaaatgtcaatggacacaag -3'
(R):5'- TCTGGAAGCATCTGCACC -3'

Posted On

2013-04-12