Mutagenetix > Incidental Mutation

Incidental Mutation 'R8373:Nckap5'

646526

Institutional Source

Beutler Lab

Gene Symbol

Nckap5

Ensembl Gene

ENSMUSG00000049690

Gene Name

NCK-associated protein 5

Synonyms

E030049G20Rik, LOC380609, D130011D22Rik

MMRRC Submission

067741-MU

Accession Numbers

Genbank: NM_001081756, NM_172484, NM_176957

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8373 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

125913620-126830799 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 126026295 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 840 (V840A)

Ref Sequence

ENSEMBL: ENSMUSP00000125624 (fasta)

Gene Model

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

AlphaFold

E9QAE1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000057846
AA Change: V776A

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000062229
Gene: ENSMUSG00000049690
AA Change: V776A

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: V908A

PolyPhen 2 Score 0.108 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000108202
Gene: ENSMUSG00000049690
AA Change: V908A

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: V840A

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000125624
Gene: ENSMUSG00000049690
AA Change: V840A

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: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

Allele List at MGI

All alleles(1) : Gene trapped(1)

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210010C04Rik	T	G	6: 41,031,688	T231P	possibly damaging	Het
Adgrg6	T	C	10: 14,467,334	T290A	probably benign	Het
Aff4	C	T	11: 53,400,267	Q685*	probably null	Het
Ankmy1	A	G	1: 92,896,094	M150T	probably damaging	Het
Armc1	T	C	3: 19,149,567	Y65C	probably damaging	Het
Armc8	A	G	9: 99,527,099	V222A	probably benign	Het
Bcar1	A	T	8: 111,715,738	Y228*	probably null	Het
Cct2	T	C	10: 117,060,824	D158G	possibly damaging	Het
Cul1	T	A	6: 47,515,063	C426S	possibly damaging	Het
Deup1	G	T	9: 15,592,375	L297M	possibly damaging	Het
Dpp10	A	G	1: 123,854,229	S74P	possibly damaging	Het
Epha4	A	G	1: 77,507,079	Y98H	possibly damaging	Het
Epn3	T	G	11: 94,492,936	D296A	probably damaging	Het
Eri2	A	C	7: 119,772,597	I252S	probably benign	Het
Gm14025	T	A	2: 129,038,171	I612F		Het
Gp9	C	T	6: 87,779,012	T3I	probably benign	Het
H2-Q5	T	A	17: 35,394,456	V55E		Het
Kif3c	G	T	12: 3,366,089	V37L	probably benign	Het
Lct	A	T	1: 128,303,840	N757K	probably damaging	Het
Lhx8	A	C	3: 154,324,658	N112K	probably damaging	Het
Loxl3	T	A	6: 83,048,891	S373R	possibly damaging	Het
Mettl4	G	A	17: 94,733,649	T359I	probably damaging	Het
Mpp7	A	G	18: 7,444,096	S109P	probably damaging	Het
Ncoa4	T	A	14: 32,176,936	L571Q	probably damaging	Het
Olfr453	T	C	6: 42,744,346	F103S	probably damaging	Het
Olfr46	A	T	7: 140,610,295	Y35F	possibly damaging	Het
Phgdh	G	A	3: 98,321,245	T204I	probably damaging	Het
Pla2g4d	C	T	2: 120,277,499	V310M	probably null	Het
Psmd12	C	T	11: 107,497,624	P421L	probably damaging	Het
Ptch1	A	G	13: 63,541,168	Y432H	probably damaging	Het
Rapgef1	G	A	2: 29,710,231	G655S	probably damaging	Het
Rilpl2	C	A	5: 124,478,034	A18S	probably damaging	Het
Srsf7	T	C	17: 80,205,386	R88G	probably benign	Het
St6galnac1	T	C	11: 116,769,233	K85E	possibly damaging	Het
Trip12	A	T	1: 84,795,767	S49R	probably damaging	Het
Wdr48	A	G	9: 119,905,494	T160A	probably damaging	Het
Zfp704	G	A	3: 9,609,442	T93M	unknown	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
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
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
R9464:Nckap5	UTSW	1	126024757	missense	probably benign	0.00
R9572:Nckap5	UTSW	1	126027717	missense	probably benign	0.41
R9721:Nckap5	UTSW	1	126027280	missense	probably damaging	0.98
R9748:Nckap5	UTSW	1	126026202	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'- ACTTTCTGGAGGCCACAGATG -3'
(R):5'- TGATGTACAGCCAGAATCACAC -3'

Sequencing Primer
(F):5'- CAGATGGTTTCTTCTGTATTTCTGAC -3'
(R):5'- TTCCAATAAGAAGAACTGGGTTCAG -3'

Posted On

2020-09-02