Mutagenetix > Incidental Mutation

Incidental Mutation 'R8832:Nckap1l'

673949

Institutional Source

Beutler Lab

Gene Symbol

Nckap1l

Ensembl Gene

ENSMUSG00000022488

Gene Name

NCK associated protein 1 like

Synonyms

Hem1, 4930568P13Rik

MMRRC Submission

068660-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.835) question?

Stock #

R8832 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

103362221-103407237 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 103387242 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 706 (S706T)

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: S706T

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

SMART Domains

Protein: ENSMUSP00000035400
Gene: ENSMUSG00000022488
AA Change: S706T

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: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

99% (81/82)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330159F19Rik	A	T	10: 29,100,341 (GRCm39)	E238V	probably damaging	Het
Adh6b	T	C	3: 138,055,463 (GRCm39)	V71A	probably benign	Het
Agmat	G	A	4: 141,474,320 (GRCm39)	R67H	probably benign	Het
AI182371	T	C	2: 34,985,909 (GRCm39)	D49G	unknown	Het
Ak7	A	G	12: 105,708,598 (GRCm39)	N351S	possibly damaging	Het
Aldh3b1	G	T	19: 3,964,025 (GRCm39)	R426S	probably damaging	Het
Aldh4a1	A	G	4: 139,371,466 (GRCm39)	D460G	probably benign	Het
Aox4	A	T	1: 58,294,649 (GRCm39)	M953L	probably benign	Het
Arhgap32	C	T	9: 32,172,115 (GRCm39)	P1632S	possibly damaging	Het
Armh1	A	G	4: 117,094,867 (GRCm39)	F58L	probably damaging	Het
Baz1b	C	T	5: 135,246,230 (GRCm39)	R560W	possibly damaging	Het
Bbs10	C	T	10: 111,136,266 (GRCm39)	Q460*	probably null	Het
BC034090	A	C	1: 155,102,034 (GRCm39)	S77A	probably damaging	Het
Bltp2	A	G	11: 78,158,064 (GRCm39)	K409E	probably benign	Het
Brca2	A	G	5: 150,465,611 (GRCm39)	K1792E	possibly damaging	Het
Cadps2	A	T	6: 23,587,536 (GRCm39)	L318Q	possibly damaging	Het
Catsperg2	A	G	7: 29,397,269 (GRCm39)	V1078A	probably benign	Het
Ccno	A	G	13: 113,126,239 (GRCm39)	N236S	probably benign	Het
Chct1	A	G	11: 85,062,037 (GRCm39)	D12G	probably damaging	Het
Cobll1	A	T	2: 64,929,602 (GRCm39)	S575T	probably damaging	Het
Col6a4	A	G	9: 105,949,353 (GRCm39)	Y761H	probably benign	Het
Cyp2j9	G	T	4: 96,474,121 (GRCm39)	H106Q	probably benign	Het
Dennd2c	T	A	3: 103,059,720 (GRCm39)		probably null	Het
Drd5	G	A	5: 38,477,078 (GRCm39)	V24M	probably benign	Het
Dthd1	T	C	5: 62,971,608 (GRCm39)	S144P	probably benign	Het
Fcna	C	A	2: 25,516,145 (GRCm39)	R124L	possibly damaging	Het
Fmnl2	A	G	2: 52,944,584 (GRCm39)	S188G		Het
Ggt1	A	T	10: 75,410,173 (GRCm39)	H35L	possibly damaging	Het
Gphn	A	T	12: 78,459,174 (GRCm39)		silent	Het
Hic1	G	A	11: 75,057,728 (GRCm39)	A387V	possibly damaging	Het
Hycc2	A	T	1: 58,587,832 (GRCm39)	I127N	possibly damaging	Het
Igf1r	T	A	7: 67,875,769 (GRCm39)	F1244I	probably damaging	Het
Kcnk7	T	C	19: 5,754,736 (GRCm39)	V78A	probably damaging	Het
Kit	A	G	5: 75,799,791 (GRCm39)	N508D	probably benign	Het
Klk1b22	A	T	7: 43,764,277 (GRCm39)	E68D	probably benign	Het
Klra4	C	T	6: 130,021,019 (GRCm39)	D259N	probably benign	Het
Krtap2-4	A	T	11: 99,505,246 (GRCm39)	C122S	unknown	Het
Map3k1	T	G	13: 111,889,015 (GRCm39)	H1314P	possibly damaging	Het
Mast2	C	T	4: 116,168,875 (GRCm39)		probably null	Het
Mfsd2a	A	G	4: 122,843,102 (GRCm39)	V393A	probably benign	Het
Myh7b	T	A	2: 155,475,182 (GRCm39)	V1858E	probably benign	Het
Myo1c	G	A	11: 75,561,072 (GRCm39)	V793I	probably benign	Het
Myt1l	T	A	12: 29,970,351 (GRCm39)	N1145K	unknown	Het
Nos2	A	G	11: 78,846,290 (GRCm39)		probably null	Het
Odf2l	C	T	3: 144,833,820 (GRCm39)	S160L	probably benign	Het
Or10ag54	T	A	2: 87,099,743 (GRCm39)	M206K	probably benign	Het
Or2av9	T	C	11: 58,381,063 (GRCm39)	I173V	possibly damaging	Het
Or4p18	A	G	2: 88,233,137 (GRCm39)	I47T	probably damaging	Het
Or56b34	T	C	7: 104,937,435 (GRCm39)	L45P	possibly damaging	Het
Or8g53	T	C	9: 39,683,886 (GRCm39)	D70G	probably damaging	Het
Pclo	T	C	5: 14,838,464 (GRCm39)	W1424R		Het
Pde8a	A	G	7: 80,956,498 (GRCm39)	N299S	probably benign	Het
Pi4kb	C	T	3: 94,900,344 (GRCm39)	T326M	probably damaging	Het
Pip4k2c	A	T	10: 127,037,037 (GRCm39)	H177Q	probably damaging	Het
Pld1	T	A	3: 28,177,846 (GRCm39)	W686R		Het
Ppp1r3b	A	T	8: 35,851,419 (GRCm39)	D86V	probably damaging	Het
Ppp1r3g	C	T	13: 36,153,143 (GRCm39)	R188*	probably null	Het
Pramel48	G	T	5: 95,630,939 (GRCm39)	C272F	possibly damaging	Het
Ptbp1	A	G	10: 79,699,023 (GRCm39)	E527G	probably damaging	Het
Rasef	T	C	4: 73,698,558 (GRCm39)		probably benign	Het
Rce1	A	T	19: 4,675,532 (GRCm39)	C34S	unknown	Het
Rnf144a	T	C	12: 26,370,948 (GRCm39)		probably benign	Het
Rpl7	C	T	1: 16,173,485 (GRCm39)	R88H	possibly damaging	Het
Rubcnl	A	T	14: 75,269,359 (GRCm39)	T6S		Het
Samd9l	A	T	6: 3,374,990 (GRCm39)	V757D	probably damaging	Het
Sec22c	A	G	9: 121,514,638 (GRCm39)	V221A	probably benign	Het
Slc16a6	A	G	11: 109,345,932 (GRCm39)	Y444H	probably benign	Het
Slc6a15	A	T	10: 103,225,179 (GRCm39)	Y89F	probably damaging	Het
Smg1	A	G	7: 117,739,006 (GRCm39)	V3466A	probably benign	Het
Sobp	G	A	10: 43,036,824 (GRCm39)	T38I	probably damaging	Het
Sppl2b	TGTCACAGGT	TGT	10: 80,701,903 (GRCm39)		probably null	Het
Srsf5	T	A	12: 80,996,278 (GRCm39)	F151I	probably damaging	Het
Taf2	A	C	15: 54,928,001 (GRCm39)	L134R	possibly damaging	Het
Tbc1d1	A	G	5: 64,442,020 (GRCm39)		probably benign	Het
Thap1	C	T	8: 26,648,261 (GRCm39)		probably benign	Het
Tmc5	A	T	7: 118,222,332 (GRCm39)	M11L	probably benign	Het
Tnfaip8	ACACACTCTCTCTCTC	AC	18: 50,179,908 (GRCm39)		probably benign	Het
Tomm7	T	C	5: 24,049,047 (GRCm39)	K9E	possibly damaging	Het
Trem3	T	C	17: 48,556,865 (GRCm39)	V112A	probably benign	Het
Vmn1r178	G	A	7: 23,593,264 (GRCm39)	C104Y	probably damaging	Het
Zdhhc20	A	T	14: 58,080,721 (GRCm39)	S263T	possibly damaging	Het
Zdhhc20	A	G	14: 58,103,089 (GRCm39)	S87P	probably benign	Het
Zfp423	C	A	8: 88,507,827 (GRCm39)	C839F	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
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
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'- CCCAGGTGAGTTTCCTACTTTG -3'
(R):5'- CTTTCCCACAGAGGAACCAG -3'

Sequencing Primer
(F):5'- TTTCTCAAGAGTGGCAGAGCTCC -3'
(R):5'- GGAACCAGACTGTATCAGAGTCTC -3'

Posted On

2021-07-15