Mutagenetix > Incidental Mutation

Incidental Mutation 'R2403:Nckap5'

248790

Institutional Source

Beutler Lab

Gene Symbol

Nckap5

Ensembl Gene

ENSMUSG00000049690

Gene Name

NCK-associated protein 5

Synonyms

LOC380609, D130011D22Rik, E030049G20Rik

MMRRC Submission

040369-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2403 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

125841373-126758529 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 125955146 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 405 (H405Y)

Ref Sequence

ENSEMBL: ENSMUSP00000062229 (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: H405Y

PolyPhen 2 Score 0.178 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000062229
Gene: ENSMUSG00000049690
AA Change: H405Y

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: H537Y

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000108202
Gene: ENSMUSG00000049690
AA Change: H537Y

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

noncoding transcript
Transcript: ENSMUST00000159934

Predicted Effect

probably benign
Transcript: ENSMUST00000161954
AA Change: H469Y

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

SMART Domains

Protein: ENSMUSP00000125624
Gene: ENSMUSG00000049690
AA Change: H469Y

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: 99.1%
3x: 98.4%
10x: 96.9%
20x: 93.8%

Validation Efficiency

Allele List at MGI

All alleles(1) : Gene trapped(1)

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	A	G	3: 121,964,592 (GRCm39)	E925G	probably damaging	Het
Abca9	T	G	11: 110,006,280 (GRCm39)	Q1275P	probably benign	Het
Adgrl1	T	A	8: 84,657,870 (GRCm39)	M492K	probably benign	Het
Ankrd50	T	A	3: 38,537,234 (GRCm39)	K3*	probably null	Het
Arl5b	T	C	2: 15,079,848 (GRCm39)	S140P	probably damaging	Het
Armc1	T	C	3: 19,211,840 (GRCm39)		probably benign	Het
Ascc1	T	C	10: 59,840,663 (GRCm39)	I8T	probably benign	Het
Bche	A	G	3: 73,608,805 (GRCm39)	V207A	probably damaging	Het
Cacna2d3	A	G	14: 28,627,259 (GRCm39)	L1080P	probably benign	Het
Ceacam3	C	A	7: 16,895,779 (GRCm39)	A583D	probably damaging	Het
Cep290	C	T	10: 100,373,299 (GRCm39)	A1193V	probably benign	Het
Clcn1	T	C	6: 42,290,046 (GRCm39)	I827T	probably damaging	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Col28a1	T	C	6: 8,175,641 (GRCm39)	D69G	possibly damaging	Het
Cts3	A	G	13: 61,712,806 (GRCm39)	W305R	probably damaging	Het
Dmwd	T	C	7: 18,815,084 (GRCm39)	I578T	possibly damaging	Het
Dnmt3a	G	A	12: 3,949,883 (GRCm39)	V559M	probably damaging	Het
Dysf	T	C	6: 84,016,549 (GRCm39)	V70A	possibly damaging	Het
Eml6	A	G	11: 29,752,434 (GRCm39)	V993A	probably benign	Het
Etl4	T	A	2: 20,812,117 (GRCm39)	L1768*	probably null	Het
F11	A	G	8: 45,701,675 (GRCm39)	S353P	probably damaging	Het
Fat3	T	G	9: 15,881,167 (GRCm39)	D3235A	probably damaging	Het
Fbxo36	T	A	1: 84,877,823 (GRCm39)	F162I	probably damaging	Het
Fgfrl1	T	C	5: 108,852,897 (GRCm39)	W200R	probably damaging	Het
Fsip2	T	C	2: 82,811,064 (GRCm39)	M2461T	possibly damaging	Het
Fut1	A	G	7: 45,268,643 (GRCm39)	Y144C	probably benign	Het
Gprin3	G	A	6: 59,331,134 (GRCm39)	A391V	probably benign	Het
H2-Q4	A	G	17: 35,598,973 (GRCm39)	E81G	probably damaging	Het
Hacd3	A	G	9: 64,908,311 (GRCm39)	S162P	probably damaging	Het
Itga1	A	T	13: 115,114,150 (GRCm39)	H918Q	probably benign	Het
Lrp5	C	A	19: 3,647,430 (GRCm39)	D1271Y	probably damaging	Het
Lsm8	C	T	6: 18,849,643 (GRCm39)	T17I	probably benign	Het
Mup4	T	A	4: 59,958,145 (GRCm39)	D141V	probably damaging	Het
Obscn	T	C	11: 59,022,472 (GRCm39)	R758G	possibly damaging	Het
Or12k8	T	C	2: 36,974,986 (GRCm39)	Y258C	probably benign	Het
Ostf1	T	C	19: 18,562,026 (GRCm39)	K190R	probably benign	Het
Pnldc1	A	T	17: 13,118,777 (GRCm39)	V197E	probably damaging	Het
Ptprc	A	G	1: 138,016,270 (GRCm39)	S531P	probably damaging	Het
Ryr3	C	T	2: 112,516,973 (GRCm39)	E3318K	probably damaging	Het
Scamp2	T	C	9: 57,484,995 (GRCm39)	V67A	possibly damaging	Het
Serpina3g	C	A	12: 104,207,421 (GRCm39)	L195M	probably damaging	Het
Siglec1	G	T	2: 130,916,395 (GRCm39)	T1185N	possibly damaging	Het
Sycp2	G	A	2: 178,045,528 (GRCm39)	Q31*	probably null	Het
Tmprss15	T	G	16: 78,854,578 (GRCm39)	T277P	probably damaging	Het
Trim34b	C	T	7: 103,978,876 (GRCm39)	S41L	probably benign	Het
Ttn	T	C	2: 76,557,705 (GRCm39)	T21507A	possibly damaging	Het
Umad1	T	C	6: 8,427,161 (GRCm39)	V138A	possibly damaging	Het
Zfp523	A	G	17: 28,414,183 (GRCm39)	I72M	probably damaging	Het
Zfp655	C	T	5: 145,181,356 (GRCm39)	R405C	probably benign	Het
Zfp715	G	A	7: 42,948,692 (GRCm39)	R423C	possibly damaging	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
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
R7813:Nckap5	UTSW	1	125,953,163 (GRCm39)	missense	probably benign	0.10
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'- CTAGTCTCTAAGTGGGTGGGAC -3'
(R):5'- GTCTGTTTAACTGGGAGCCAC -3'

Sequencing Primer
(F):5'- GAGAGCCACCTTCAGACTTTC -3'
(R):5'- CTGTTTAACTGGGAGCCACATAGG -3'

Posted On

2014-11-11