Mutagenetix > Incidental Mutation

Incidental Mutation 'R5277:Nckap5'

403983

Institutional Source

Beutler Lab

Gene Symbol

Nckap5

Ensembl Gene

ENSMUSG00000049690

Gene Name

NCK-associated protein 5

Synonyms

LOC380609, D130011D22Rik, E030049G20Rik

MMRRC Submission

042864-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5277 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

125841373-126758529 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 125954277 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 758 (C758*)

Ref Sequence

ENSEMBL: ENSMUSP00000125624 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057846] [ENSMUST00000094609] [ENSMUST00000094610] [ENSMUST00000112583] [ENSMUST00000161954] [ENSMUST00000162877]

AlphaFold

E9QAE1

Predicted Effect

probably null
Transcript: ENSMUST00000057846
AA Change: C694*

SMART Domains

Protein: ENSMUSP00000062229
Gene: ENSMUSG00000049690
AA Change: C694*

Domain	Start	End	E-Value	Type
low complexity region	2	25	N/A	INTRINSIC
coiled coil region	108	186	N/A	INTRINSIC
low complexity region	321	332	N/A	INTRINSIC
low complexity region	755	771	N/A	INTRINSIC
low complexity region	950	971	N/A	INTRINSIC
low complexity region	1070	1085	N/A	INTRINSIC
low complexity region	1181	1200	N/A	INTRINSIC
Pfam:NCKAP5	1298	1602	1.8e-120	PFAM
low complexity region	1728	1742	N/A	INTRINSIC
low complexity region	1757	1771	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000094609

SMART Domains

Protein: ENSMUSP00000092192
Gene: ENSMUSG00000049690

Domain	Start	End	E-Value	Type
low complexity region	70	93	N/A	INTRINSIC
Pfam:NCKAP5	113	364	3.6e-36	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000094610

SMART Domains

Protein: ENSMUSP00000092193
Gene: ENSMUSG00000049690

Domain	Start	End	E-Value	Type
Pfam:NCKAP5	1	101	8.8e-42	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000112583
AA Change: C826*

SMART Domains

Protein: ENSMUSP00000108202
Gene: ENSMUSG00000049690
AA Change: C826*

Domain	Start	End	E-Value	Type
low complexity region	70	93	N/A	INTRINSIC
coiled coil region	176	254	N/A	INTRINSIC
low complexity region	301	324	N/A	INTRINSIC
low complexity region	453	464	N/A	INTRINSIC
low complexity region	887	903	N/A	INTRINSIC
low complexity region	1082	1103	N/A	INTRINSIC
low complexity region	1202	1217	N/A	INTRINSIC
low complexity region	1313	1332	N/A	INTRINSIC
Pfam:NCKAP5	1431	1733	5.3e-119	PFAM
low complexity region	1860	1874	N/A	INTRINSIC
low complexity region	1889	1903	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159934

Predicted Effect

probably null
Transcript: ENSMUST00000161954
AA Change: C758*

SMART Domains

Protein: ENSMUSP00000125624
Gene: ENSMUSG00000049690
AA Change: C758*

Domain	Start	End	E-Value	Type
low complexity region	2	25	N/A	INTRINSIC
coiled coil region	108	186	N/A	INTRINSIC
low complexity region	233	256	N/A	INTRINSIC
low complexity region	385	396	N/A	INTRINSIC
low complexity region	819	835	N/A	INTRINSIC
low complexity region	1014	1035	N/A	INTRINSIC
low complexity region	1134	1149	N/A	INTRINSIC
low complexity region	1245	1264	N/A	INTRINSIC
Pfam:NCKAP5	1362	1666	2.1e-120	PFAM
low complexity region	1792	1806	N/A	INTRINSIC
low complexity region	1821	1835	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000162877

SMART Domains

Protein: ENSMUSP00000124748
Gene: ENSMUSG00000049690

Domain	Start	End	E-Value	Type
Pfam:NCKAP5	9	296	6e-36	PFAM

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

98% (52/53)

Allele List at MGI

All alleles(1) : Gene trapped(1)

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi1	T	C	2: 22,884,660 (GRCm39)	T54A	probably damaging	Het
Ablim1	T	C	19: 57,143,693 (GRCm39)	R89G	probably damaging	Het
Bco1	T	A	8: 117,844,128 (GRCm39)		probably null	Het
Bhmt	A	T	13: 93,761,393 (GRCm39)	M185K	possibly damaging	Het
Camk2d	T	C	3: 126,478,390 (GRCm39)		probably benign	Het
Cmtm1	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	8: 105,036,102 (GRCm39)		probably benign	Het
Dcaf6	A	G	1: 165,251,915 (GRCm39)	S70P	probably benign	Het
Dclre1a	C	T	19: 56,533,164 (GRCm39)	V477I	possibly damaging	Het
Dnah10	C	T	5: 124,905,201 (GRCm39)	P4021L	probably damaging	Het
Dusp10	A	G	1: 183,769,204 (GRCm39)	N57D	possibly damaging	Het
Fam13b	G	A	18: 34,595,243 (GRCm39)	R374C	probably benign	Het
Fyb2	G	A	4: 104,872,876 (GRCm39)	D686N	probably damaging	Het
Glra3	G	A	8: 56,444,242 (GRCm39)	M67I	possibly damaging	Het
Gm14325	G	A	2: 177,474,777 (GRCm39)	H102Y	possibly damaging	Het
Gm6180	A	G	8: 42,700,177 (GRCm39)		noncoding transcript	Het
Grin2c	A	G	11: 115,144,639 (GRCm39)	V629A	probably damaging	Het
Kif4-ps	A	T	12: 101,112,186 (GRCm39)		noncoding transcript	Het
Mc3r	T	C	2: 172,091,707 (GRCm39)	F310L	probably damaging	Het
Myh4	A	G	11: 67,143,180 (GRCm39)	D1036G	probably damaging	Het
Myh6	A	G	14: 55,194,019 (GRCm39)	I790T	probably benign	Het
Myo15a	C	A	11: 60,367,940 (GRCm39)	Y233*	probably null	Het
Neurog3	T	A	10: 61,969,632 (GRCm39)	Y36N	probably damaging	Het
Nlrp4e	T	C	7: 23,020,863 (GRCm39)	L450P	probably benign	Het
Or52d13	A	T	7: 103,110,148 (GRCm39)	L84H	probably damaging	Het
Otog	A	G	7: 45,896,045 (GRCm39)	E170G	possibly damaging	Het
Ppp2r2b	G	T	18: 42,874,207 (GRCm39)	T41K	probably damaging	Het
Prmt5	A	T	14: 54,747,399 (GRCm39)	D459E	probably benign	Het
Ric8b	G	A	10: 84,783,516 (GRCm39)	V125M	probably damaging	Het
Rptor	A	G	11: 119,713,782 (GRCm39)	S4G	probably damaging	Het
Rslcan18	T	G	13: 67,246,498 (GRCm39)	E371D	probably benign	Het
Scaf11	A	T	15: 96,317,107 (GRCm39)	F819Y	probably damaging	Het
Sema6a	A	T	18: 47,409,611 (GRCm39)		probably benign	Het
Snx29	C	T	16: 11,217,688 (GRCm39)	T163I	possibly damaging	Het
Sphkap	T	C	1: 83,253,885 (GRCm39)	N1288S	probably benign	Het
Tmbim7	G	A	5: 3,723,192 (GRCm39)		probably null	Het
Tmem63c	T	A	12: 87,104,531 (GRCm39)		probably null	Het
Tmem69	A	G	4: 116,410,458 (GRCm39)	F171L	probably benign	Het
Urod	A	T	4: 116,847,482 (GRCm39)		probably benign	Het
Vmn1r37	A	T	6: 66,708,460 (GRCm39)	I29L	probably benign	Het
Vmn2r102	A	G	17: 19,914,393 (GRCm39)	T653A	possibly damaging	Het
Vmn2r75	A	C	7: 85,815,500 (GRCm39)	S121R	probably benign	Het
Vwde	T	C	6: 13,186,995 (GRCm39)	T831A	probably benign	Het
Wdr70	C	T	15: 8,006,465 (GRCm39)	W362*	probably null	Het
Zfat	A	G	15: 68,037,758 (GRCm39)	C906R	probably damaging	Het
Zfp7	T	C	15: 76,765,403 (GRCm39)	V32A	probably damaging	Het

Other mutations in Nckap5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00833:Nckap5	APN	1	125,954,889 (GRCm39)	missense	probably damaging	0.99
IGL00956:Nckap5	APN	1	125,952,755 (GRCm39)	missense	probably damaging	0.98
IGL01414:Nckap5	APN	1	126,456,450 (GRCm39)	missense	probably damaging	1.00
IGL01482:Nckap5	APN	1	125,950,897 (GRCm39)	missense	probably damaging	1.00
IGL01508:Nckap5	APN	1	125,953,309 (GRCm39)	missense	probably damaging	0.96
IGL02071:Nckap5	APN	1	125,909,305 (GRCm39)	missense	probably damaging	0.97
IGL02129:Nckap5	APN	1	125,955,432 (GRCm39)	nonsense	probably null
IGL02821:Nckap5	APN	1	125,955,553 (GRCm39)	missense	probably damaging	1.00
IGL03174:Nckap5	APN	1	125,909,383 (GRCm39)	missense	probably damaging	1.00
F5493:Nckap5	UTSW	1	125,953,564 (GRCm39)	missense	probably benign
G5030:Nckap5	UTSW	1	125,953,591 (GRCm39)	missense	probably damaging	0.96
R0033:Nckap5	UTSW	1	125,867,979 (GRCm39)	intron	probably benign
R0164:Nckap5	UTSW	1	125,952,144 (GRCm39)	missense	possibly damaging	0.84
R0164:Nckap5	UTSW	1	125,952,144 (GRCm39)	missense	possibly damaging	0.84
R0349:Nckap5	UTSW	1	125,954,171 (GRCm39)	missense	probably benign
R0482:Nckap5	UTSW	1	125,954,102 (GRCm39)	missense	possibly damaging	0.92
R0508:Nckap5	UTSW	1	125,909,121 (GRCm39)	splice site	probably null
R0541:Nckap5	UTSW	1	126,623,459 (GRCm39)	missense	possibly damaging	0.82
R0609:Nckap5	UTSW	1	125,955,025 (GRCm39)	nonsense	probably null
R0701:Nckap5	UTSW	1	125,953,094 (GRCm39)	missense	probably benign	0.06
R0782:Nckap5	UTSW	1	125,909,278 (GRCm39)	missense	probably damaging	1.00
R1389:Nckap5	UTSW	1	125,954,447 (GRCm39)	missense	probably damaging	0.99
R1401:Nckap5	UTSW	1	125,942,398 (GRCm39)	splice site	probably benign
R1436:Nckap5	UTSW	1	125,953,798 (GRCm39)	missense	possibly damaging	0.96
R1506:Nckap5	UTSW	1	125,953,650 (GRCm39)	nonsense	probably null
R1528:Nckap5	UTSW	1	125,952,659 (GRCm39)	missense	possibly damaging	0.68
R1942:Nckap5	UTSW	1	125,952,039 (GRCm39)	missense	probably damaging	1.00
R1968:Nckap5	UTSW	1	125,942,367 (GRCm39)	missense	probably damaging	0.99
R2055:Nckap5	UTSW	1	125,954,635 (GRCm39)	missense	probably damaging	1.00
R2105:Nckap5	UTSW	1	125,954,255 (GRCm39)	missense	probably damaging	1.00
R2214:Nckap5	UTSW	1	125,953,487 (GRCm39)	missense	possibly damaging	0.77
R2311:Nckap5	UTSW	1	126,456,489 (GRCm39)	missense	probably damaging	1.00
R2403:Nckap5	UTSW	1	125,955,146 (GRCm39)	missense	probably benign	0.18
R2430:Nckap5	UTSW	1	125,842,494 (GRCm39)	missense	probably damaging	0.99
R2914:Nckap5	UTSW	1	125,954,274 (GRCm39)	splice site	probably null
R3782:Nckap5	UTSW	1	125,952,811 (GRCm39)	missense	possibly damaging	0.93
R4133:Nckap5	UTSW	1	126,150,443 (GRCm39)	missense	probably benign	0.13
R4249:Nckap5	UTSW	1	125,955,376 (GRCm39)	missense	probably benign	0.01
R4448:Nckap5	UTSW	1	125,953,463 (GRCm39)	nonsense	probably null
R4456:Nckap5	UTSW	1	125,842,472 (GRCm39)	unclassified	probably benign
R4682:Nckap5	UTSW	1	126,030,279 (GRCm39)	critical splice donor site	probably null
R4817:Nckap5	UTSW	1	125,954,952 (GRCm39)	missense	possibly damaging	0.68
R4907:Nckap5	UTSW	1	125,953,889 (GRCm39)	missense	possibly damaging	0.92
R4908:Nckap5	UTSW	1	125,955,324 (GRCm39)	missense	probably damaging	1.00
R4924:Nckap5	UTSW	1	125,954,765 (GRCm39)	nonsense	probably null
R4926:Nckap5	UTSW	1	126,456,378 (GRCm39)	intron	probably benign
R5032:Nckap5	UTSW	1	125,904,786 (GRCm39)	missense	possibly damaging	0.62
R5133:Nckap5	UTSW	1	125,961,697 (GRCm39)	missense	probably benign	0.01
R5197:Nckap5	UTSW	1	126,150,410 (GRCm39)	missense	possibly damaging	0.79
R5238:Nckap5	UTSW	1	125,955,461 (GRCm39)	missense	probably damaging	0.96
R5257:Nckap5	UTSW	1	125,952,245 (GRCm39)	missense	probably damaging	0.99
R5512:Nckap5	UTSW	1	125,955,481 (GRCm39)	missense	possibly damaging	0.63
R5700:Nckap5	UTSW	1	125,904,662 (GRCm39)	critical splice donor site	probably null
R5789:Nckap5	UTSW	1	125,955,439 (GRCm39)	missense	probably damaging	1.00
R6029:Nckap5	UTSW	1	125,953,523 (GRCm39)	missense	possibly damaging	0.89
R6249:Nckap5	UTSW	1	125,952,667 (GRCm39)	missense	probably benign
R6292:Nckap5	UTSW	1	125,842,752 (GRCm39)	missense	probably damaging	0.99
R6521:Nckap5	UTSW	1	126,309,909 (GRCm39)	missense	probably damaging	1.00
R6875:Nckap5	UTSW	1	125,950,931 (GRCm39)	missense	probably benign	0.03
R7017:Nckap5	UTSW	1	126,030,398 (GRCm39)	missense	probably damaging	1.00
R7018:Nckap5	UTSW	1	125,952,785 (GRCm39)	missense	probably damaging	0.99
R7054:Nckap5	UTSW	1	126,186,449 (GRCm39)	splice site	probably null
R7204:Nckap5	UTSW	1	125,954,104 (GRCm39)	missense	probably benign
R7336:Nckap5	UTSW	1	125,953,786 (GRCm39)	missense	probably benign	0.00
R7544:Nckap5	UTSW	1	125,953,948 (GRCm39)	missense	possibly damaging	0.92
R7590:Nckap5	UTSW	1	125,954,270 (GRCm39)	missense	probably benign	0.00
R7684:Nckap5	UTSW	1	125,954,594 (GRCm39)	missense	probably benign	0.00
R7749:Nckap5	UTSW	1	125,952,383 (GRCm39)	missense	probably damaging	1.00
R7773:Nckap5	UTSW	1	125,954,581 (GRCm39)	missense	probably benign	0.00
R7813:Nckap5	UTSW	1	125,953,163 (GRCm39)	missense	probably benign	0.10
R7970:Nckap5	UTSW	1	125,952,758 (GRCm39)	nonsense	probably null
R7992:Nckap5	UTSW	1	125,954,547 (GRCm39)	missense	probably damaging	0.99
R8278:Nckap5	UTSW	1	125,955,509 (GRCm39)	missense	probably damaging	1.00
R8373:Nckap5	UTSW	1	125,954,032 (GRCm39)	missense	probably benign	0.02
R8414:Nckap5	UTSW	1	125,942,357 (GRCm39)	missense	probably damaging	1.00
R8755:Nckap5	UTSW	1	125,954,279 (GRCm39)	missense	possibly damaging	0.89
R8845:Nckap5	UTSW	1	125,909,423 (GRCm39)	missense	possibly damaging	0.80
R9016:Nckap5	UTSW	1	126,623,491 (GRCm39)	start codon destroyed	probably null	0.01
R9209:Nckap5	UTSW	1	125,867,928 (GRCm39)	missense	unknown
R9214:Nckap5	UTSW	1	125,942,376 (GRCm39)	missense	probably benign	0.01
R9300:Nckap5	UTSW	1	125,909,423 (GRCm39)	nonsense	probably null
R9464:Nckap5	UTSW	1	125,952,494 (GRCm39)	missense	probably benign	0.00
R9572:Nckap5	UTSW	1	125,955,454 (GRCm39)	missense	probably benign	0.41
R9721:Nckap5	UTSW	1	125,955,017 (GRCm39)	missense	probably damaging	0.98
R9748:Nckap5	UTSW	1	125,953,939 (GRCm39)	missense	probably damaging	1.00
Z1088:Nckap5	UTSW	1	125,952,569 (GRCm39)	missense	possibly damaging	0.76
Z1176:Nckap5	UTSW	1	126,456,418 (GRCm39)	critical splice donor site	probably null
Z1177:Nckap5	UTSW	1	126,150,396 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- AGACCTCATTCTTGTCTGTGG -3'
(R):5'- ACATGGGTGTCTACACAAAGC -3'

Sequencing Primer
(F):5'- GCGCAGAGACACAGCCATTG -3'
(R):5'- TGTCTACACAAAGCAAGGTCTG -3'

Posted On

2016-07-22