Mutagenetix > Incidental Mutations

Incidental Mutation 'R4133:Nckap5'

314724

Institutional Source

Beutler Lab

Gene Symbol

Nckap5

Ensembl Gene

ENSMUSG00000049690

Gene Name

NCK-associated protein 5

Synonyms

E030049G20Rik, LOC380609, D130011D22Rik

MMRRC Submission

041637-MU

Accession Numbers

Genbank: NM_001081756, NM_172484, NM_176957

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4133 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

125913620-126830799 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 126222706 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 162 (V162A)

Ref Sequence

ENSEMBL: ENSMUSP00000123936 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057846] [ENSMUST00000094609] [ENSMUST00000112583] [ENSMUST00000161954] [ENSMUST00000162646] [ENSMUST00000162877]

AlphaFold

E9QAE1

Predicted Effect

probably benign
Transcript: ENSMUST00000057846
AA Change: V94A

PolyPhen 2 Score 0.120 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000062229
Gene: ENSMUSG00000049690
AA Change: V94A

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

unknown
Transcript: ENSMUST00000094609
AA Change: V162A

SMART Domains

Protein: ENSMUSP00000092192
Gene: ENSMUSG00000049690
AA Change: V162A

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: ENSMUST00000112583
AA Change: V162A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000108202
Gene: ENSMUSG00000049690
AA Change: V162A

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 benign
Transcript: ENSMUST00000161954
AA Change: V94A

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000125624
Gene: ENSMUSG00000049690
AA Change: V94A

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: ENSMUST00000162646
AA Change: V162A

PolyPhen 2 Score 0.127 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000123936
Gene: ENSMUSG00000049690
AA Change: V162A

Domain	Start	End	E-Value	Type
low complexity region	70	93	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000162877
AA Change: V94A

SMART Domains

Protein: ENSMUSP00000124748
Gene: ENSMUSG00000049690
AA Change: V94A

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

97% (77/79)

Allele List at MGI

All alleles(1) : Gene trapped(1)

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700036A12Rik	T	A	9: 60,769,998		noncoding transcript	Het
Aldh3b1	A	G	19: 3,920,808	I184T	probably damaging	Het
Arhgap42	C	T	9: 9,011,299		probably benign	Het
Arhgef4	A	G	1: 34,806,104	D1463G	probably damaging	Het
Arpc5	A	G	1: 152,768,871	T52A	probably benign	Het
Asb6	A	G	2: 30,828,235		probably benign	Het
Ash1l	T	C	3: 88,982,260	V482A	probably benign	Het
Bop1	T	C	15: 76,454,335	N469S	probably benign	Het
Btaf1	T	A	19: 36,961,738	N266K	probably benign	Het
Btla	T	C	16: 45,239,298	Y122H	probably damaging	Het
Cacna1g	A	G	11: 94,432,544	M1278T	probably damaging	Het
Cdc42bpb	A	G	12: 111,321,542	S524P	probably benign	Het
Cep78	A	G	19: 15,969,155	S438P	probably damaging	Het
Clca4a	T	G	3: 144,969,352	E171D	probably benign	Het
Cldn6	A	T	17: 23,681,493	I144F	probably damaging	Het
Cpd	G	A	11: 76,814,818	Q363*	probably null	Het
Cpn1	G	A	19: 43,986,284	P2L	possibly damaging	Het
Ddx31	A	G	2: 28,858,852	D264G	probably damaging	Het
Ddx39b	C	T	17: 35,253,089	S368L	probably damaging	Het
Ddx60	A	G	8: 61,972,220	K681E	probably damaging	Het
Dennd1c	A	C	17: 57,076,980	W15G	possibly damaging	Het
Dgkd	T	G	1: 87,941,501		probably null	Het
Dnah7c	G	T	1: 46,665,990	A2388S	probably benign	Het
Etv4	C	A	11: 101,770,498	K442N	probably damaging	Het
Fam234a	T	C	17: 26,213,558	D539G	probably damaging	Het
Fam71a	A	T	1: 191,163,008	N479K	probably benign	Het
Fancm	A	G	12: 65,120,530	T1538A	probably benign	Het
Fbn2	A	T	18: 58,095,962	N725K	possibly damaging	Het
Fcer2a	T	A	8: 3,691,130	N4I	possibly damaging	Het
Fgd5	T	C	6: 92,069,437	V1229A	probably damaging	Het
Gm5471	A	T	15: 44,971,901		noncoding transcript	Het
Gm5478	T	A	15: 101,644,645	I331F	probably damaging	Het
Gm6729	C	A	10: 86,541,166		noncoding transcript	Het
Hectd4	G	T	5: 121,277,834		probably null	Het
Hspb3	A	C	13: 113,663,491	M1R	probably null	Het
Igkv10-95	T	C	6: 68,680,617	V19A	probably damaging	Het
Il1rap	A	G	16: 26,722,886	S626G	probably benign	Het
Ints9	A	G	14: 64,990,554	H103R	probably benign	Het
Itga4	T	A	2: 79,322,652	D894E	probably damaging	Het
Khsrp	T	C	17: 57,025,605	H225R	probably benign	Het
Lama1	T	C	17: 67,750,655	Y575H	probably damaging	Het
Lama1	A	T	17: 67,812,486	I2653F	probably damaging	Het
Map4k5	A	T	12: 69,845,723	L144Q	probably damaging	Het
Mcm5	A	G	8: 75,115,854	Y252C	probably damaging	Het
Mmgt2	A	G	11: 62,665,051	E75G	probably damaging	Het
Mroh2a	A	T	1: 88,254,965	N1205I	possibly damaging	Het
Nr3c2	T	C	8: 76,909,749	I493T	probably damaging	Het
Olfr1411	T	C	1: 92,596,743	F75L	probably benign	Het
Olfr325	A	T	11: 58,581,075	Y77F	probably damaging	Het
Olfr698	A	C	7: 106,753,079	L103R	probably damaging	Het
Papola	A	G	12: 105,799,658	T6A	possibly damaging	Het
Ppp1cc	G	A	5: 122,168,226	R36Q	probably benign	Het
Ptpro	G	T	6: 137,420,372	W81C	probably damaging	Het
Rasgrf2	A	G	13: 91,982,654	S162P	possibly damaging	Het
Rpusd2	T	C	2: 119,038,715	S540P	probably damaging	Het
Scn5a	T	A	9: 119,486,372	T1757S	probably damaging	Het
Setbp1	T	C	18: 78,856,991	I1154V	probably benign	Het
Sirt1	T	C	10: 63,335,659	I209V	probably null	Het
Slco6c1	T	A	1: 97,081,493	I406L	probably benign	Het
Smc2	A	G	4: 52,450,947	E255G	probably damaging	Het
Snap91	C	A	9: 86,777,049	G477V	probably damaging	Het
Speg	A	G	1: 75,427,904	Q2780R	probably benign	Het
Ssh2	A	G	11: 77,421,269	Y196C	probably damaging	Het
Ssxb9	A	T	X: 8,369,606	T18S	probably damaging	Het
Stxbp5l	T	C	16: 37,208,119	I527M	possibly damaging	Het
Tex10	T	C	4: 48,468,968	Y69C	probably damaging	Het
Theg	T	C	10: 79,580,050	T236A	probably damaging	Het
Thoc3	T	C	13: 54,468,548	D87G	probably benign	Het
Top2b	T	G	14: 16,409,189	I777M	probably damaging	Het
Trps1	T	C	15: 50,831,387	K213R	probably damaging	Het
Uggt1	A	T	1: 36,158,159	L1221Q	probably damaging	Het
Vmn2r3	T	A	3: 64,275,717	Y187F	probably damaging	Het
Washc2	G	A	6: 116,258,930	E1121K	probably damaging	Het
Zfx	T	C	X: 94,080,858	N360D	probably damaging	Het
Znhit3	A	G	11: 84,916,313	V10A	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	splice site	probably null
R3782:Nckap5	UTSW	1	126025074	missense	possibly damaging	0.93
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
R7018:Nckap5	UTSW	1	126025048	missense	probably damaging	0.99
R7054:Nckap5	UTSW	1	126258712	splice site	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
R7970:Nckap5	UTSW	1	126025021	nonsense	probably null
R7992:Nckap5	UTSW	1	126026810	missense	probably damaging	0.99
R8278:Nckap5	UTSW	1	126027772	missense	probably damaging	1.00
R8373:Nckap5	UTSW	1	126026295	missense	probably benign	0.02
R8414:Nckap5	UTSW	1	126014620	missense	probably damaging	1.00
R8755:Nckap5	UTSW	1	126026542	missense	possibly damaging	0.89
R8845:Nckap5	UTSW	1	125981686	missense	possibly damaging	0.80
R9016:Nckap5	UTSW	1	126695754	start codon destroyed	probably null	0.01
R9209:Nckap5	UTSW	1	125940191	missense	unknown
R9214:Nckap5	UTSW	1	126014639	missense	probably benign	0.01
R9300:Nckap5	UTSW	1	125981686	nonsense	probably null
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'- CCGACTGGTGACTGTATCAG -3'
(R):5'- TAAGCACTGCTCACCTTGC -3'

Sequencing Primer
(F):5'- CTGTATCAGTCTGGGAGAACTAAG -3'
(R):5'- TCAGGAAGGACTACCTGA -3'

Posted On

2015-05-14