Mutagenetix > Incidental Mutation

Incidental Mutation 'R5700:Nckap5'

450825

Institutional Source

Beutler Lab

Gene Symbol

Nckap5

Ensembl Gene

ENSMUSG00000049690

Gene Name

NCK-associated protein 5

Synonyms

E030049G20Rik, LOC380609, D130011D22Rik

MMRRC Submission

043328-MU

Accession Numbers

Genbank: NM_001081756, NM_172484, NM_176957

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5700 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

125913620-126830799 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to T at 125976925 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

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

SMART Domains

Protein: ENSMUSP00000062229
Gene: ENSMUSG00000049690

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 null
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

SMART Domains

Protein: ENSMUSP00000108202
Gene: ENSMUSG00000049690

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 null
Transcript: ENSMUST00000161954

SMART Domains

Protein: ENSMUSP00000125624
Gene: ENSMUSG00000049690

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

0.9480

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

98% (50/51)

Allele List at MGI

All alleles(1) : Gene trapped(1)

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	A	T	19: 43,798,194	Q155L	probably benign	Het
Acadvl	A	C	11: 70,013,203	Y242D	probably damaging	Het
Armc8	A	G	9: 99,496,149		probably null	Het
Barx2	A	T	9: 31,858,765	F156I	probably damaging	Het
Best1	T	C	19: 9,997,199		probably benign	Het
Btbd8	T	C	5: 107,503,648	S136P	possibly damaging	Het
Btla	T	A	16: 45,250,573	Y298*	probably null	Het
Casr	T	A	16: 36,509,617	I452F	probably damaging	Het
Ccser1	C	A	6: 61,311,276	P141H	probably benign	Het
Cr2	A	G	1: 195,159,757	V296A	probably damaging	Het
Csl	T	A	10: 99,759,015	I63F	probably damaging	Het
Dbt	G	A	3: 116,520,303	V40M	probably damaging	Het
Fam53b	A	T	7: 132,760,020	L93Q	probably damaging	Het
Fdps	T	C	3: 89,095,649	I105V	probably damaging	Het
Gm4884	A	G	7: 41,043,219	D204G	probably benign	Het
Gm5592	A	G	7: 41,158,579		probably benign	Het
Gm7367	A	T	7: 60,155,762		noncoding transcript	Het
Grid2	T	A	6: 64,094,432	V413D	possibly damaging	Het
Hgf	C	T	5: 16,610,124	P471L	probably damaging	Het
Hoxc9	T	C	15: 102,981,881	Y77H	possibly damaging	Het
Hs6st3	C	T	14: 119,138,787	R125*	probably null	Het
Kdm4b	T	C	17: 56,351,700	I15T	possibly damaging	Het
Klhl1	T	C	14: 96,518,040	N93S	probably benign	Het
Klhl6	G	A	16: 19,957,218	Q197*	probably null	Het
Medag	T	C	5: 149,422,217	V7A	probably benign	Het
Mptx2	G	A	1: 173,274,847	L92F	probably benign	Het
Obscn	T	C	11: 59,133,194	K550R	probably benign	Het
Olfr1369-ps1	T	A	13: 21,116,001	V103E	probably damaging	Het
Olfr193	T	A	16: 59,109,993	I206F	probably damaging	Het
Olfr716	A	G	7: 107,147,541	N75S	probably benign	Het
Olfr8	T	C	10: 78,955,484	I93T	probably damaging	Het
Parp6	T	C	9: 59,624,727	S101P	probably damaging	Het
Plcd3	T	C	11: 103,073,763	N594S	probably benign	Het
Plscr5	A	T	9: 92,205,511	K178*	probably null	Het
Ppp2r1b	T	C	9: 50,878,157	Y443H	probably damaging	Het
Pqlc2	C	T	4: 139,300,254	S259N	probably damaging	Het
Prnd	G	A	2: 131,953,343	V128I	probably benign	Het
Rftn1	G	T	17: 50,002,669	P156Q	probably damaging	Het
Scmh1	T	C	4: 120,516,946	V445A	probably benign	Het
Serpinb6c	A	T	13: 33,899,308	M41K	probably damaging	Het
Spns1	A	G	7: 126,372,469	V303A	possibly damaging	Het
Ston1	T	A	17: 88,644,339	S639R	probably damaging	Het
Thbs4	T	C	13: 92,776,953	D153G	probably benign	Het
Timm44	T	C	8: 4,274,171	Y36C	probably damaging	Het
Trim34b	G	T	7: 104,336,411	V418F	probably damaging	Het
Vmn1r72	C	T	7: 11,670,423	V33M	probably damaging	Het
Zcchc7	T	C	4: 44,931,084	V412A	probably benign	Het
Zfand1	T	A	3: 10,341,019	N210I	probably damaging	Het
Zfhx3	A	G	8: 108,933,867	H1251R	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
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
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'- TGCCACAGAAATTGAAATGAAAACAC -3'
(R):5'- TTTCCCTAAATTTGTTAAAGGTTGGT -3'

Sequencing Primer
(F):5'- ACTGTGGACTGAAATCCCTTG -3'
(R):5'- AAAGGTTGGTAAATCTTGGTTTTGG -3'

Posted On

2017-01-03