Mutagenetix > Incidental Mutation

Incidental Mutation 'R7813:Nckap5'

601269

Institutional Source

Beutler Lab

Gene Symbol

Nckap5

Ensembl Gene

ENSMUSG00000049690

Gene Name

NCK-associated protein 5

Synonyms

LOC380609, D130011D22Rik, E030049G20Rik

MMRRC Submission

045868-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7813 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

125841373-126758529 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 125953163 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 1130 (S1130P)

Ref Sequence

ENSEMBL: ENSMUSP00000125624 (fasta)

Gene Model

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

AlphaFold

E9QAE1

Predicted Effect

probably benign
Transcript: ENSMUST00000057846
AA Change: S1066P

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000062229
Gene: ENSMUSG00000049690
AA Change: S1066P

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: S1198P

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000108202
Gene: ENSMUSG00000049690
AA Change: S1198P

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: S1130P

PolyPhen 2 Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000125624
Gene: ENSMUSG00000049690
AA Change: S1130P

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: 99.8%
20x: 99.4%

Validation Efficiency

100% (60/60)

Allele List at MGI

All alleles(1) : Gene trapped(1)

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330159F19Rik	G	A	10: 29,100,896 (GRCm39)	R423K	probably benign	Het
Acot7	T	C	4: 152,307,575 (GRCm39)	S170P	probably damaging	Het
Arhgap40	A	G	2: 158,380,620 (GRCm39)	Q341R	probably benign	Het
Arhgef28	T	C	13: 98,082,189 (GRCm39)	E1206G	possibly damaging	Het
Arpp21	T	A	9: 112,008,133 (GRCm39)	K122N	probably damaging	Het
Arsi	T	C	18: 61,049,726 (GRCm39)	L203P	possibly damaging	Het
C1rb	A	T	6: 124,557,488 (GRCm39)	I542F	probably benign	Het
Cadm3	C	A	1: 173,171,956 (GRCm39)	V206L	probably benign	Het
Card11	T	C	5: 140,885,419 (GRCm39)	D380G	probably damaging	Het
Ccdc42	A	T	11: 68,488,534 (GRCm39)	Q164L	probably benign	Het
Ccnd1	A	G	7: 144,491,622 (GRCm39)		probably null	Het
Cep120	T	C	18: 53,871,578 (GRCm39)	D98G	probably damaging	Het
Chrd	A	G	16: 20,554,155 (GRCm39)	T336A	probably benign	Het
Clca3a2	C	A	3: 144,790,726 (GRCm39)	A449S	probably benign	Het
Dnah7a	A	G	1: 53,657,245 (GRCm39)	F844L	probably benign	Het
Fbxo11	T	A	17: 88,308,245 (GRCm39)	I480F		Het
Fcrl5	A	G	3: 87,350,930 (GRCm39)	T147A	probably benign	Het
Gm15130	T	A	2: 110,969,320 (GRCm39)	I133F		Het
Gpr155	C	T	2: 73,212,329 (GRCm39)	W98*	probably null	Het
Hspa4	A	G	11: 53,162,863 (GRCm39)	S408P	probably damaging	Het
Il12rb2	G	A	6: 67,333,635 (GRCm39)	R215C	possibly damaging	Het
Itga5	T	A	15: 103,265,741 (GRCm39)		probably null	Het
Kcnip3	T	A	2: 127,323,703 (GRCm39)		probably null	Het
Krt12	A	G	11: 99,309,309 (GRCm39)		probably null	Het
Marchf3	A	T	18: 56,916,163 (GRCm39)	S177R	probably benign	Het
Minpp1	T	G	19: 32,468,803 (GRCm39)	F229V	probably damaging	Het
Muc2	G	A	7: 141,282,543 (GRCm39)		probably null	Het
Myh10	A	G	11: 68,676,735 (GRCm39)	T906A	probably benign	Het
Myh13	A	G	11: 67,218,056 (GRCm39)	D43G	probably benign	Het
Nacad	C	T	11: 6,549,071 (GRCm39)	D1327N	probably benign	Het
Nbeal1	A	T	1: 60,331,048 (GRCm39)	Y2219F	probably damaging	Het
Pfkfb3	T	C	2: 11,486,719 (GRCm39)	N415S	probably benign	Het
Plxdc2	A	G	2: 16,665,678 (GRCm39)	I293V	possibly damaging	Het
Prpf38a	A	T	4: 108,436,277 (GRCm39)	I12N	probably damaging	Het
Ptprt	C	T	2: 161,372,413 (GRCm39)	V1420M	probably damaging	Het
Qars1	A	G	9: 108,386,670 (GRCm39)	D161G	probably damaging	Het
Scaf8	T	A	17: 3,247,549 (GRCm39)	D957E	probably damaging	Het
Scn7a	T	C	2: 66,506,689 (GRCm39)	Y1400C	probably damaging	Het
Sis	T	C	3: 72,832,801 (GRCm39)	I999V	probably benign	Het
Sorcs2	A	T	5: 36,181,958 (GRCm39)	L1054H	probably damaging	Het
Sptbn1	C	T	11: 30,088,455 (GRCm39)	A906T	probably damaging	Het
Srd5a2	A	G	17: 74,331,541 (GRCm39)	F152S	probably benign	Het
Stkld1	T	A	2: 26,835,888 (GRCm39)	L241*	probably null	Het
Strip2	A	T	6: 29,923,912 (GRCm39)		probably null	Het
Tcaf1	A	C	6: 42,650,363 (GRCm39)	Y905*	probably null	Het
Tet2	T	C	3: 133,179,404 (GRCm39)	I1254V	probably benign	Het
Tiam2	A	T	17: 3,487,522 (GRCm39)	N681I	probably damaging	Het
Trappc6a	A	G	7: 19,248,124 (GRCm39)		probably null	Het
Trav12-2	A	T	14: 53,854,223 (GRCm39)	K66*	probably null	Het
Ttn	T	A	2: 76,597,841 (GRCm39)	I19691F	probably damaging	Het
Tubgcp5	A	T	7: 55,450,444 (GRCm39)	Q185L	possibly damaging	Het
Vmn1r44	A	T	6: 89,869,192 (GRCm39)		probably benign	Het
Vps13a	T	C	19: 16,628,820 (GRCm39)	D2717G	possibly damaging	Het
Vps13d	A	T	4: 144,904,633 (GRCm39)	Y133*	probably null	Het
Zer1	T	C	2: 30,000,385 (GRCm39)	D265G	probably damaging	Het
Zfp710	A	G	7: 79,730,859 (GRCm39)	D12G	possibly damaging	Het
Zfp819	T	C	7: 43,266,191 (GRCm39)	S225P	probably benign	Het

Other mutations in Nckap5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00833:Nckap5	APN	1	125,954,889 (GRCm39)	missense	probably damaging	0.99
IGL00956:Nckap5	APN	1	125,952,755 (GRCm39)	missense	probably damaging	0.98
IGL01414:Nckap5	APN	1	126,456,450 (GRCm39)	missense	probably damaging	1.00
IGL01482:Nckap5	APN	1	125,950,897 (GRCm39)	missense	probably damaging	1.00
IGL01508:Nckap5	APN	1	125,953,309 (GRCm39)	missense	probably damaging	0.96
IGL02071:Nckap5	APN	1	125,909,305 (GRCm39)	missense	probably damaging	0.97
IGL02129:Nckap5	APN	1	125,955,432 (GRCm39)	nonsense	probably null
IGL02821:Nckap5	APN	1	125,955,553 (GRCm39)	missense	probably damaging	1.00
IGL03174:Nckap5	APN	1	125,909,383 (GRCm39)	missense	probably damaging	1.00
F5493:Nckap5	UTSW	1	125,953,564 (GRCm39)	missense	probably benign
G5030:Nckap5	UTSW	1	125,953,591 (GRCm39)	missense	probably damaging	0.96
R0033:Nckap5	UTSW	1	125,867,979 (GRCm39)	intron	probably benign
R0164:Nckap5	UTSW	1	125,952,144 (GRCm39)	missense	possibly damaging	0.84
R0164:Nckap5	UTSW	1	125,952,144 (GRCm39)	missense	possibly damaging	0.84
R0349:Nckap5	UTSW	1	125,954,171 (GRCm39)	missense	probably benign
R0482:Nckap5	UTSW	1	125,954,102 (GRCm39)	missense	possibly damaging	0.92
R0508:Nckap5	UTSW	1	125,909,121 (GRCm39)	splice site	probably null
R0541:Nckap5	UTSW	1	126,623,459 (GRCm39)	missense	possibly damaging	0.82
R0609:Nckap5	UTSW	1	125,955,025 (GRCm39)	nonsense	probably null
R0701:Nckap5	UTSW	1	125,953,094 (GRCm39)	missense	probably benign	0.06
R0782:Nckap5	UTSW	1	125,909,278 (GRCm39)	missense	probably damaging	1.00
R1389:Nckap5	UTSW	1	125,954,447 (GRCm39)	missense	probably damaging	0.99
R1401:Nckap5	UTSW	1	125,942,398 (GRCm39)	splice site	probably benign
R1436:Nckap5	UTSW	1	125,953,798 (GRCm39)	missense	possibly damaging	0.96
R1506:Nckap5	UTSW	1	125,953,650 (GRCm39)	nonsense	probably null
R1528:Nckap5	UTSW	1	125,952,659 (GRCm39)	missense	possibly damaging	0.68
R1942:Nckap5	UTSW	1	125,952,039 (GRCm39)	missense	probably damaging	1.00
R1968:Nckap5	UTSW	1	125,942,367 (GRCm39)	missense	probably damaging	0.99
R2055:Nckap5	UTSW	1	125,954,635 (GRCm39)	missense	probably damaging	1.00
R2105:Nckap5	UTSW	1	125,954,255 (GRCm39)	missense	probably damaging	1.00
R2214:Nckap5	UTSW	1	125,953,487 (GRCm39)	missense	possibly damaging	0.77
R2311:Nckap5	UTSW	1	126,456,489 (GRCm39)	missense	probably damaging	1.00
R2403:Nckap5	UTSW	1	125,955,146 (GRCm39)	missense	probably benign	0.18
R2430:Nckap5	UTSW	1	125,842,494 (GRCm39)	missense	probably damaging	0.99
R2914:Nckap5	UTSW	1	125,954,274 (GRCm39)	splice site	probably null
R3782:Nckap5	UTSW	1	125,952,811 (GRCm39)	missense	possibly damaging	0.93
R4133:Nckap5	UTSW	1	126,150,443 (GRCm39)	missense	probably benign	0.13
R4249:Nckap5	UTSW	1	125,955,376 (GRCm39)	missense	probably benign	0.01
R4448:Nckap5	UTSW	1	125,953,463 (GRCm39)	nonsense	probably null
R4456:Nckap5	UTSW	1	125,842,472 (GRCm39)	unclassified	probably benign
R4682:Nckap5	UTSW	1	126,030,279 (GRCm39)	critical splice donor site	probably null
R4817:Nckap5	UTSW	1	125,954,952 (GRCm39)	missense	possibly damaging	0.68
R4907:Nckap5	UTSW	1	125,953,889 (GRCm39)	missense	possibly damaging	0.92
R4908:Nckap5	UTSW	1	125,955,324 (GRCm39)	missense	probably damaging	1.00
R4924:Nckap5	UTSW	1	125,954,765 (GRCm39)	nonsense	probably null
R4926:Nckap5	UTSW	1	126,456,378 (GRCm39)	intron	probably benign
R5032:Nckap5	UTSW	1	125,904,786 (GRCm39)	missense	possibly damaging	0.62
R5133:Nckap5	UTSW	1	125,961,697 (GRCm39)	missense	probably benign	0.01
R5197:Nckap5	UTSW	1	126,150,410 (GRCm39)	missense	possibly damaging	0.79
R5238:Nckap5	UTSW	1	125,955,461 (GRCm39)	missense	probably damaging	0.96
R5257:Nckap5	UTSW	1	125,952,245 (GRCm39)	missense	probably damaging	0.99
R5277:Nckap5	UTSW	1	125,954,277 (GRCm39)	nonsense	probably null
R5512:Nckap5	UTSW	1	125,955,481 (GRCm39)	missense	possibly damaging	0.63
R5700:Nckap5	UTSW	1	125,904,662 (GRCm39)	critical splice donor site	probably null
R5789:Nckap5	UTSW	1	125,955,439 (GRCm39)	missense	probably damaging	1.00
R6029:Nckap5	UTSW	1	125,953,523 (GRCm39)	missense	possibly damaging	0.89
R6249:Nckap5	UTSW	1	125,952,667 (GRCm39)	missense	probably benign
R6292:Nckap5	UTSW	1	125,842,752 (GRCm39)	missense	probably damaging	0.99
R6521:Nckap5	UTSW	1	126,309,909 (GRCm39)	missense	probably damaging	1.00
R6875:Nckap5	UTSW	1	125,950,931 (GRCm39)	missense	probably benign	0.03
R7017:Nckap5	UTSW	1	126,030,398 (GRCm39)	missense	probably damaging	1.00
R7018:Nckap5	UTSW	1	125,952,785 (GRCm39)	missense	probably damaging	0.99
R7054:Nckap5	UTSW	1	126,186,449 (GRCm39)	splice site	probably null
R7204:Nckap5	UTSW	1	125,954,104 (GRCm39)	missense	probably benign
R7336:Nckap5	UTSW	1	125,953,786 (GRCm39)	missense	probably benign	0.00
R7544:Nckap5	UTSW	1	125,953,948 (GRCm39)	missense	possibly damaging	0.92
R7590:Nckap5	UTSW	1	125,954,270 (GRCm39)	missense	probably benign	0.00
R7684:Nckap5	UTSW	1	125,954,594 (GRCm39)	missense	probably benign	0.00
R7749:Nckap5	UTSW	1	125,952,383 (GRCm39)	missense	probably damaging	1.00
R7773:Nckap5	UTSW	1	125,954,581 (GRCm39)	missense	probably benign	0.00
R7970:Nckap5	UTSW	1	125,952,758 (GRCm39)	nonsense	probably null
R7992:Nckap5	UTSW	1	125,954,547 (GRCm39)	missense	probably damaging	0.99
R8278:Nckap5	UTSW	1	125,955,509 (GRCm39)	missense	probably damaging	1.00
R8373:Nckap5	UTSW	1	125,954,032 (GRCm39)	missense	probably benign	0.02
R8414:Nckap5	UTSW	1	125,942,357 (GRCm39)	missense	probably damaging	1.00
R8755:Nckap5	UTSW	1	125,954,279 (GRCm39)	missense	possibly damaging	0.89
R8845:Nckap5	UTSW	1	125,909,423 (GRCm39)	missense	possibly damaging	0.80
R9016:Nckap5	UTSW	1	126,623,491 (GRCm39)	start codon destroyed	probably null	0.01
R9209:Nckap5	UTSW	1	125,867,928 (GRCm39)	missense	unknown
R9214:Nckap5	UTSW	1	125,942,376 (GRCm39)	missense	probably benign	0.01
R9300:Nckap5	UTSW	1	125,909,423 (GRCm39)	nonsense	probably null
R9464:Nckap5	UTSW	1	125,952,494 (GRCm39)	missense	probably benign	0.00
R9572:Nckap5	UTSW	1	125,955,454 (GRCm39)	missense	probably benign	0.41
R9721:Nckap5	UTSW	1	125,955,017 (GRCm39)	missense	probably damaging	0.98
R9748:Nckap5	UTSW	1	125,953,939 (GRCm39)	missense	probably damaging	1.00
Z1088:Nckap5	UTSW	1	125,952,569 (GRCm39)	missense	possibly damaging	0.76
Z1176:Nckap5	UTSW	1	126,456,418 (GRCm39)	critical splice donor site	probably null
Z1177:Nckap5	UTSW	1	126,150,396 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TGGAAGGCTTCTCTCCCAAG -3'
(R):5'- CTCATGAAGTCTCCTCAGTTGC -3'

Sequencing Primer
(F):5'- TCTCTCCCAAGTGGATGCTGAAG -3'
(R):5'- AAACTTCCTTGGTACCAGGG -3'

Posted On

2019-11-26