Mutagenetix > Incidental Mutations

Incidental Mutation 'R7590:Nckap5'

587334

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 #

R7590 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

125913620-126830799 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 126026533 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 761 (Q761K)

Ref Sequence

ENSEMBL: ENSMUSP00000125624 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000057846
AA Change: Q697K

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

SMART Domains

Protein: ENSMUSP00000062229
Gene: ENSMUSG00000049690
AA Change: Q697K

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 benign
Transcript: ENSMUST00000112583
AA Change: Q829K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000108202
Gene: ENSMUSG00000049690
AA Change: Q829K

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: Q761K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000125624
Gene: ENSMUSG00000049690
AA Change: Q761K

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (48/49)

Allele List at MGI

All alleles(1) : Gene trapped(1)

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	T	A	11: 109,938,515	T1373S	probably damaging	Het
Bbox1	A	T	2: 110,268,232	N333K	probably benign	Het
Bcl11b	T	A	12: 108,003,143	M1L	probably benign	Het
C1s2	T	A	6: 124,632,128	I157F	probably damaging	Het
Casp1	T	A	9: 5,306,710	M384K	probably damaging	Het
Chpt1	A	G	10: 88,480,826	S257P	probably damaging	Het
Dennd4a	G	A	9: 64,888,587	G731D	probably benign	Het
Dlk2	A	T	17: 46,298,683	S21C	probably benign	Het
Ell2	T	C	13: 75,770,735	L620P	probably damaging	Het
Enpp5	G	A	17: 44,085,264	G356S	probably damaging	Het
Fip1l1	T	C	5: 74,591,774	V414A	probably benign	Het
Fmo1	T	A	1: 162,859,682		probably benign	Het
Fyb2	A	G	4: 104,945,246	N115S	probably benign	Het
Gdi2	A	G	13: 3,564,611	T319A	probably benign	Het
Gm10471	G	T	5: 26,085,766	H136N	possibly damaging	Het
Hecw1	A	G	13: 14,264,083	V905A	probably damaging	Het
Ireb2	T	A	9: 54,896,495	V490D	probably benign	Het
Lbr	A	G	1: 181,821,511	S348P	probably damaging	Het
Loxhd1	T	A	18: 77,321,634	D191E	possibly damaging	Het
Mlip	A	T	9: 77,230,043	D527E	probably benign	Het
Myom2	A	G	8: 15,117,679	Y1088C	probably damaging	Het
Naip5	T	C	13: 100,219,696	Q1137R	probably benign	Het
Naip5	G	T	13: 100,219,697	Q1137K	not run	Het
Neb	A	T	2: 52,243,842	D3376E	probably damaging	Het
Nek10	A	G	14: 15,006,693	*1116W	probably null	Het
Olfr224	T	C	11: 58,567,259	I29V	probably benign	Het
Olfr491	A	T	7: 108,317,179	H95L	probably benign	Het
Olfr653	T	C	7: 104,579,942	S99P	probably damaging	Het
Pak2	A	T	16: 32,052,196	I56K	probably benign	Het
Pgm5	T	C	19: 24,709,265	Y526C	probably damaging	Het
Phc2	T	A	4: 128,748,027	L714H	probably damaging	Het
Phf13	A	T	4: 151,991,775	D223E	probably damaging	Het
Pkd1l2	T	C	8: 117,080,786	D171G	probably benign	Het
Psmd6	GCAGAGCGGGCAGGGCATCTCACTGACCCTGTCACCTACCCAGAGCGGGCAGGGCATCTCACTGACCCTGTCACCTACCCAGAGCGGGCAGGGCATCTCACTGACC	GCAGAGCGGGCAGGGCATCTCACTGACCCTGTCACCTACCCAGAGCGGGCAGGGCATCTCACTGACC	14: 14,119,882		probably null	Het
Rbm6	A	T	9: 107,791,750		probably null	Het
Scn10a	A	G	9: 119,666,400	M352T	probably damaging	Het
Sh3d19	G	A	3: 86,114,906	V548I	possibly damaging	Het
Slc13a4	T	A	6: 35,279,463	I321F	possibly damaging	Het
Spata9	T	C	13: 75,977,652	S85P	possibly damaging	Het
Ssb	G	A	2: 69,867,290	A122T	probably benign	Het
Ssfa2	G	T	2: 79,658,110	V846F	possibly damaging	Het
St3gal1	A	G	15: 67,111,346	V187A	possibly damaging	Het
Ten1	T	C	11: 116,205,640	L40P	possibly damaging	Het
Tex10	A	C	4: 48,467,725	V358G	probably damaging	Het
Tmprss11c	A	T	5: 86,239,473	H195Q	probably benign	Het
Tor4a	A	G	2: 25,195,798	V31A	possibly damaging	Het
Trim29	G	A	9: 43,311,491	A206T	probably damaging	Het
Trim71	A	C	9: 114,562,825	V98G	probably benign	Het
Trpm6	C	G	19: 18,832,581	L1114V	probably benign	Het
Usp1	A	G	4: 98,934,252	D601G	possibly damaging	Het
Vmn2r18	T	A	5: 151,561,729	I767F	probably damaging	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
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
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
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
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'- AGTGACACTGATCTCCCTGGAG -3'
(R):5'- CCTTCCAGAGGCAAGTCTTCAC -3'

Sequencing Primer
(F):5'- GAGACCTCATTCTTGTCTGTGGC -3'
(R):5'- GAGGCAAGTCTTCACCTCAG -3'

Posted On

2019-10-24