Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02821:Nckap5'

361005

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nckap5

Ensembl Gene

ENSMUSG00000049690

Gene Name

NCK-associated protein 5

Synonyms

LOC380609, D130011D22Rik, E030049G20Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02821

Quality Score

Status

Chromosome

Chromosomal Location

125841373-126758529 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 125955553 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 401 (M401T)

Ref Sequence

ENSEMBL: ENSMUSP00000108202 (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: M269T

PolyPhen 2 Score 0.863 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000062229
Gene: ENSMUSG00000049690
AA Change: M269T

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 damaging
Transcript: ENSMUST00000112583
AA Change: M401T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000108202
Gene: ENSMUSG00000049690
AA Change: M401T

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 damaging
Transcript: ENSMUST00000161954
AA Change: M333T

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000125624
Gene: ENSMUSG00000049690
AA Change: M333T

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

Validation Efficiency

Allele List at MGI

All alleles(1) : Gene trapped(1)

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930474N05Rik	T	C	14: 35,818,473 (GRCm39)	L157S	probably benign	Het
Adam15	A	G	3: 89,252,663 (GRCm39)	S309P	probably damaging	Het
Agtpbp1	A	T	13: 59,630,415 (GRCm39)	M772K	possibly damaging	Het
Ankfn1	T	C	11: 89,282,442 (GRCm39)	M402V	probably benign	Het
Anln	G	A	9: 22,269,418 (GRCm39)	T822I	possibly damaging	Het
Atp13a4	A	G	16: 29,260,125 (GRCm39)	V589A	probably benign	Het
Ccm2l	C	T	2: 152,909,779 (GRCm39)	L44F	probably damaging	Het
Cd177	A	T	7: 24,443,818 (GRCm39)	L760Q	probably damaging	Het
Cd177	G	T	7: 24,443,819 (GRCm39)	L760M	probably damaging	Het
Cfap69	T	C	5: 5,714,017 (GRCm39)	E5G	probably benign	Het
Col4a1	G	A	8: 11,271,375 (GRCm39)	T753I	probably benign	Het
Col6a3	T	A	1: 90,731,600 (GRCm39)	D1551V	probably damaging	Het
Ddx20	A	G	3: 105,586,593 (GRCm39)	V584A	probably benign	Het
Dop1a	C	A	9: 86,402,209 (GRCm39)	H1136Q	probably benign	Het
Egf	T	C	3: 129,496,128 (GRCm39)	E329G	probably damaging	Het
Eif3c	A	G	7: 126,157,831 (GRCm39)	V337A	probably benign	Het
Eif3f	G	T	7: 108,533,881 (GRCm39)		probably benign	Het
Eif3f	C	T	7: 108,533,882 (GRCm39)		probably benign	Het
Evc	T	A	5: 37,483,740 (GRCm39)	I187F	probably benign	Het
Fam117a	T	G	11: 95,254,815 (GRCm39)		probably benign	Het
H2-M10.4	A	T	17: 36,771,323 (GRCm39)	V285E	probably damaging	Het
Hps4	G	T	5: 112,523,307 (GRCm39)	M608I	probably benign	Het
Idh3b	T	A	2: 130,126,321 (GRCm39)	N6I	probably benign	Het
Itgam	A	T	7: 127,675,281 (GRCm39)	M169L	probably damaging	Het
Kcnn3	G	A	3: 89,570,029 (GRCm39)	G614D	possibly damaging	Het
Kcnn3	A	G	3: 89,428,281 (GRCm39)	N169S	possibly damaging	Het
Mn1	A	T	5: 111,569,717 (GRCm39)	K1229M	probably damaging	Het
Ms4a19	A	G	19: 11,118,897 (GRCm39)	*71Q	probably null	Het
Or1af1	T	C	2: 37,110,112 (GRCm39)	S204P	probably damaging	Het
Or8c13	T	C	9: 38,091,964 (GRCm39)	N52D	possibly damaging	Het
Or8d4	T	G	9: 40,038,561 (GRCm39)	E232A	probably benign	Het
Pttg1ip2	G	A	5: 5,502,039 (GRCm39)	Q138*	probably null	Het
Sim2	G	A	16: 93,898,047 (GRCm39)	V94M	probably damaging	Het
Slc46a3	G	A	5: 147,822,822 (GRCm39)	T340M	probably benign	Het
Ssc4d	A	G	5: 135,994,923 (GRCm39)		probably benign	Het
Trav12-1	A	G	14: 53,775,916 (GRCm39)	D22G	probably damaging	Het
Trgv4	T	A	13: 19,369,422 (GRCm39)	D55E	possibly damaging	Het
Trps1	G	A	15: 50,524,273 (GRCm39)	T969M	probably damaging	Het
Ttn	T	A	2: 76,719,894 (GRCm39)		probably benign	Het
Ubqln4	A	G	3: 88,470,458 (GRCm39)	N310S	probably benign	Het
Vapa	T	C	17: 65,889,756 (GRCm39)		probably benign	Het
Vmn1r65	T	C	7: 6,011,893 (GRCm39)	T114A	possibly damaging	Het
Vps13d	T	C	4: 144,875,332 (GRCm39)	E1725G	probably damaging	Het
Vps53	A	G	11: 76,027,143 (GRCm39)		probably benign	Het
Xkr9	T	C	1: 13,742,799 (GRCm39)	L28P	probably 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
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
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

Posted On

2015-12-18