Mutagenetix > Incidental Mutations

Incidental Mutation 'R7018:Nckap5'

545426

Institutional Source

Beutler Lab

Gene Symbol

Nckap5

Ensembl Gene

ENSMUSG00000049690

Gene Name

NCK-associated protein 5

Synonyms

E030049G20Rik, LOC380609, D130011D22Rik

MMRRC Submission

Accession Numbers

Genbank: NM_001081756, NM_172484, NM_176957

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7018 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

125913620-126830799 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 126025048 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 1256 (S1256P)

Ref Sequence

ENSEMBL: ENSMUSP00000125624 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000057846
AA Change: S1192P

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000062229
Gene: ENSMUSG00000049690
AA Change: S1192P

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 damaging
Transcript: ENSMUST00000112583
AA Change: S1324P

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000108202
Gene: ENSMUSG00000049690
AA Change: S1324P

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

probably damaging
Transcript: ENSMUST00000161954
AA Change: S1256P

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000125624
Gene: ENSMUSG00000049690
AA Change: S1256P

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

0.6467

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (64/64)

Allele List at MGI

All alleles(1) : Gene trapped(1)

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apcdd1	G	T	18: 62,937,049	R129L	probably damaging	Het
Arhgef28	C	T	13: 97,965,435	V844I	probably damaging	Het
Arhgef5	T	C	6: 43,288,731	V1569A	probably damaging	Het
Atr	T	A	9: 95,866,694	S431T	probably benign	Het
Cdh11	T	C	8: 102,634,321	D795G	possibly damaging	Het
Crygf	T	C	1: 65,927,971	S85P	probably benign	Het
Diexf	A	G	1: 193,114,855	I563T	probably benign	Het
Dip2c	T	A	13: 9,659,278	Y1385N	probably damaging	Het
Dnah14	G	A	1: 181,626,944	V840I	possibly damaging	Het
Dsg1a	T	C	18: 20,328,738	F299L	possibly damaging	Het
Fgfr4	A	T	13: 55,166,200	S576C	probably damaging	Het
Frmd8	T	C	19: 5,869,518	D167G	probably damaging	Het
Gm5105	G	A	3: 138,049,558	T89I	unknown	Het
Grhl1	C	T	12: 24,575,997	S35L	possibly damaging	Het
Gsn	A	G	2: 35,293,506	E242G	probably benign	Het
Hcrtr1	A	G	4: 130,135,868	I140T	probably damaging	Het
Ifnlr1	T	C	4: 135,703,824	Y208H	possibly damaging	Het
Ighv1-58	T	C	12: 115,312,365	Y51C	probably damaging	Het
Iqcj	T	A	3: 68,041,247	Y21*	probably null	Het
Kcnc4	T	C	3: 107,458,862	Y10C	probably benign	Het
Kcnk7	G	T	19: 5,706,132	G129W	probably damaging	Het
Kcnq2	T	A	2: 181,081,724	R620*	probably null	Het
Klk13	C	A	7: 43,726,702	P267Q	probably benign	Het
Krt1	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	15: 101,850,378		probably benign	Het
L3mbtl4	G	A	17: 68,486,943	R314H	probably damaging	Het
Lamc2	T	A	1: 153,136,742	M729L	probably benign	Het
Lyst	T	G	13: 13,743,459		probably null	Het
Med13l	G	A	5: 118,751,986	R1909H	probably damaging	Het
Mstn	T	A	1: 53,064,084	L193Q	possibly damaging	Het
Mylk	T	C	16: 35,000,426	V125A	possibly damaging	Het
Nalcn	T	A	14: 123,409,821	M547L	probably damaging	Het
Nkain1	T	C	4: 130,532,118	Y189C	probably damaging	Het
Olfr1164	T	A	2: 88,093,256	I227F	probably benign	Het
Olfr193	A	G	16: 59,110,607	M1T	probably null	Het
Olfr490	T	G	7: 108,286,344	I261L	probably benign	Het
Olfr761	A	T	17: 37,952,502	I174N	probably damaging	Het
Oosp3	T	A	19: 11,699,419	D47E	probably benign	Het
Pcdh15	G	T	10: 74,466,354	G942W	probably damaging	Het
Pcyox1l	C	A	18: 61,707,554		probably benign	Het
Peg3	T	C	7: 6,708,839	E1128G	possibly damaging	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 109,624,195		probably benign	Het
Plscr1	T	A	9: 92,264,662	V119D	probably damaging	Het
Prss56	A	T	1: 87,185,948	D258V	possibly damaging	Het
Ptpn23	T	G	9: 110,385,816	K85Q	possibly damaging	Het
Ranbp3l	C	A	15: 9,007,285	S7Y	probably benign	Het
Rnf31	T	C	14: 55,592,233	L85P	probably damaging	Het
Rptn	T	C	3: 93,397,900	C847R	possibly damaging	Het
Six4	T	A	12: 73,108,953	E413D	probably benign	Het
Slc30a2	G	A	4: 134,347,415	R161Q	probably damaging	Het
Sned1	T	C	1: 93,284,421	V1115A	probably damaging	Het
Spen	T	C	4: 141,493,444	K401E	unknown	Het
Srbd1	T	A	17: 86,136,415	R128W	possibly damaging	Het
Strc	A	T	2: 121,369,058	I1300N	probably damaging	Het
Susd1	T	G	4: 59,390,627	T230P	probably benign	Het
Thumpd2	G	T	17: 81,055,897	S47*	probably null	Het
Tmprss11a	C	T	5: 86,428,570	V141I	probably damaging	Het
Tmprss15	T	C	16: 79,024,853	Y438C	possibly damaging	Het
Tnfrsf1a	T	C	6: 125,356,951	S56P	probably damaging	Het
Ttc39d	T	C	17: 80,216,181	W90R	probably benign	Het
Vmn2r111	T	C	17: 22,559,051	N549S	possibly damaging	Het
Wdr20rt	A	T	12: 65,225,762		probably null	Het
Zfp646	C	A	7: 127,882,322	Q1224K	probably benign	Het

Other mutations in Nckap5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00833:Nckap5	APN	1	126027152	missense	probably damaging	0.99
IGL00956:Nckap5	APN	1	126025018	missense	probably damaging	0.98
IGL01414:Nckap5	APN	1	126528713	missense	probably damaging	1.00
IGL01482:Nckap5	APN	1	126023160	missense	probably damaging	1.00
IGL01508:Nckap5	APN	1	126025572	missense	probably damaging	0.96
IGL02071:Nckap5	APN	1	125981568	missense	probably damaging	0.97
IGL02129:Nckap5	APN	1	126027695	nonsense	probably null
IGL02821:Nckap5	APN	1	126027816	missense	probably damaging	1.00
IGL03174:Nckap5	APN	1	125981646	missense	probably damaging	1.00
F5493:Nckap5	UTSW	1	126025827	missense	probably benign
G5030:Nckap5	UTSW	1	126025854	missense	probably damaging	0.96
R0033:Nckap5	UTSW	1	125940242	intron	probably benign
R0164:Nckap5	UTSW	1	126024407	missense	possibly damaging	0.84
R0164:Nckap5	UTSW	1	126024407	missense	possibly damaging	0.84
R0349:Nckap5	UTSW	1	126026434	missense	probably benign
R0482:Nckap5	UTSW	1	126026365	missense	possibly damaging	0.92
R0508:Nckap5	UTSW	1	125981384	splice site	probably null
R0541:Nckap5	UTSW	1	126695722	missense	possibly damaging	0.82
R0609:Nckap5	UTSW	1	126027288	nonsense	probably null
R0701:Nckap5	UTSW	1	126025357	missense	probably benign	0.06
R0782:Nckap5	UTSW	1	125981541	missense	probably damaging	1.00
R1389:Nckap5	UTSW	1	126026710	missense	probably damaging	0.99
R1401:Nckap5	UTSW	1	126014661	splice site	probably benign
R1436:Nckap5	UTSW	1	126026061	missense	possibly damaging	0.96
R1506:Nckap5	UTSW	1	126025913	nonsense	probably null
R1528:Nckap5	UTSW	1	126024922	missense	possibly damaging	0.68
R1942:Nckap5	UTSW	1	126024302	missense	probably damaging	1.00
R1968:Nckap5	UTSW	1	126014630	missense	probably damaging	0.99
R2055:Nckap5	UTSW	1	126026898	missense	probably damaging	1.00
R2105:Nckap5	UTSW	1	126026518	missense	probably damaging	1.00
R2214:Nckap5	UTSW	1	126025750	missense	possibly damaging	0.77
R2311:Nckap5	UTSW	1	126528752	missense	probably damaging	1.00
R2403:Nckap5	UTSW	1	126027409	missense	probably benign	0.18
R2430:Nckap5	UTSW	1	125914757	missense	probably damaging	0.99
R2914:Nckap5	UTSW	1	126026537	unclassified	probably null
R3782:Nckap5	UTSW	1	126025074	missense	possibly damaging	0.93
R4133:Nckap5	UTSW	1	126222706	missense	probably benign	0.13
R4249:Nckap5	UTSW	1	126027639	missense	probably benign	0.01
R4448:Nckap5	UTSW	1	126025726	nonsense	probably null
R4456:Nckap5	UTSW	1	125914735	unclassified	probably benign
R4682:Nckap5	UTSW	1	126102542	critical splice donor site	probably null
R4817:Nckap5	UTSW	1	126027215	missense	possibly damaging	0.68
R4907:Nckap5	UTSW	1	126026152	missense	possibly damaging	0.92
R4908:Nckap5	UTSW	1	126027587	missense	probably damaging	1.00
R4924:Nckap5	UTSW	1	126027028	nonsense	probably null
R4926:Nckap5	UTSW	1	126528641	intron	probably benign
R5032:Nckap5	UTSW	1	125977049	missense	possibly damaging	0.62
R5133:Nckap5	UTSW	1	126033960	missense	probably benign	0.01
R5197:Nckap5	UTSW	1	126222673	missense	possibly damaging	0.79
R5238:Nckap5	UTSW	1	126027724	missense	probably damaging	0.96
R5257:Nckap5	UTSW	1	126024508	missense	probably damaging	0.99
R5277:Nckap5	UTSW	1	126026540	nonsense	probably null
R5512:Nckap5	UTSW	1	126027744	missense	possibly damaging	0.63
R5700:Nckap5	UTSW	1	125976925	critical splice donor site	probably null
R5789:Nckap5	UTSW	1	126027702	missense	probably damaging	1.00
R6029:Nckap5	UTSW	1	126025786	missense	possibly damaging	0.89
R6249:Nckap5	UTSW	1	126024930	missense	probably benign
R6292:Nckap5	UTSW	1	125915015	missense	probably damaging	0.99
R6521:Nckap5	UTSW	1	126382172	missense	probably damaging	1.00
R6875:Nckap5	UTSW	1	126023194	missense	probably benign	0.03
R7017:Nckap5	UTSW	1	126102661	missense	probably damaging	1.00
R7054:Nckap5	UTSW	1	126258712	intron	probably null
R7204:Nckap5	UTSW	1	126026367	missense	probably benign
R7336:Nckap5	UTSW	1	126026049	missense	probably benign	0.00
R7544:Nckap5	UTSW	1	126026211	missense	possibly damaging	0.92
R7590:Nckap5	UTSW	1	126026533	missense	probably benign	0.00
R7684:Nckap5	UTSW	1	126026857	missense	probably benign	0.00
R7749:Nckap5	UTSW	1	126024646	missense	probably damaging	1.00
R7773:Nckap5	UTSW	1	126026844	missense	probably benign	0.00
R7813:Nckap5	UTSW	1	126025426	missense	probably benign	0.10
Z1088:Nckap5	UTSW	1	126024832	missense	possibly damaging	0.76
Z1176:Nckap5	UTSW	1	126528681	critical splice donor site	probably null
Z1177:Nckap5	UTSW	1	126222659	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TGCCTTCCAGAAGTTTCTAGC -3'
(R):5'- GCCAGGCAAGATTCGAACTC -3'

Sequencing Primer
(F):5'- CCAGAAGTTTCTAGCTTAGATATCCC -3'
(R):5'- CAGGCAAGATTCGAACTCAGATTATC -3'

Posted On

2019-05-13