Mutagenetix > Incidental Mutation

Incidental Mutation 'R6521:Nckap5'

521243

Institutional Source

Beutler Lab

Gene Symbol

Nckap5

Ensembl Gene

ENSMUSG00000049690

Gene Name

NCK-associated protein 5

Synonyms

LOC380609, D130011D22Rik, E030049G20Rik

MMRRC Submission

044647-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6521 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

125841373-126758529 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 126309909 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 74 (I74K)

Ref Sequence

ENSEMBL: ENSMUSP00000108202 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057846] [ENSMUST00000094609] [ENSMUST00000112583] [ENSMUST00000160693] [ENSMUST00000161954] [ENSMUST00000162646] [ENSMUST00000162877]

AlphaFold

E9QAE1

Predicted Effect

unknown
Transcript: ENSMUST00000057846
AA Change: I6K

SMART Domains

Protein: ENSMUSP00000062229
Gene: ENSMUSG00000049690
AA Change: I6K

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 damaging
Transcript: ENSMUST00000094609
AA Change: I74K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000092192
Gene: ENSMUSG00000049690
AA Change: I74K

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 damaging
Transcript: ENSMUST00000112583
AA Change: I74K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000108202
Gene: ENSMUSG00000049690
AA Change: I74K

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

possibly damaging
Transcript: ENSMUST00000160693
AA Change: I74K

PolyPhen 2 Score 0.563 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000123975
Gene: ENSMUSG00000049690
AA Change: I74K

Domain	Start	End	E-Value	Type
low complexity region	70	93	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000161954
AA Change: I6K

SMART Domains

Protein: ENSMUSP00000125624
Gene: ENSMUSG00000049690
AA Change: I6K

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

possibly damaging
Transcript: ENSMUST00000162646
AA Change: I74K

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000123936
Gene: ENSMUSG00000049690
AA Change: I74K

Domain	Start	End	E-Value	Type
low complexity region	70	93	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000162877
AA Change: I6K

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000124748
Gene: ENSMUSG00000049690
AA Change: I6K

Domain	Start	End	E-Value	Type
Pfam:NCKAP5	9	296	6e-36	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.5%
20x: 92.0%

Validation Efficiency

100% (48/48)

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
Aars1	T	A	8: 111,769,968 (GRCm39)	S356T	probably benign	Het
Acsbg2	T	C	17: 57,168,565 (GRCm39)	M185V	probably benign	Het
Adgrv1	A	T	13: 81,581,771 (GRCm39)	F4758I	probably damaging	Het
Ank3	A	G	10: 69,828,596 (GRCm39)		probably benign	Het
Ankfy1	G	A	11: 72,621,308 (GRCm39)	R198Q	possibly damaging	Het
Ano4	A	G	10: 88,819,640 (GRCm39)	V537A	probably damaging	Het
Catsper2	A	G	2: 121,237,288 (GRCm39)	L204P	probably damaging	Het
Cdh20	A	C	1: 104,869,859 (GRCm39)	D193A	probably damaging	Het
Ceacam5	T	C	7: 17,484,756 (GRCm39)		probably null	Het
Celf4	T	A	18: 25,612,531 (GRCm39)		probably null	Het
Cfap91	A	G	16: 38,127,121 (GRCm39)	V545A	probably benign	Het
Crebbp	A	T	16: 3,936,992 (GRCm39)	F754I	probably damaging	Het
Cyfip2	A	T	11: 46,145,415 (GRCm39)	I635N	probably damaging	Het
Erbb4	T	A	1: 68,081,689 (GRCm39)	D1131V	probably damaging	Het
Fsip2	A	G	2: 82,820,430 (GRCm39)	T5388A	possibly damaging	Het
Hoxc8	G	A	15: 102,901,135 (GRCm39)	V193M	probably benign	Het
Klhdc3	A	G	17: 46,988,687 (GRCm39)	V124A	probably benign	Het
Klhl18	A	G	9: 110,257,703 (GRCm39)	I509T	possibly damaging	Het
Mdfic	T	A	6: 15,729,027 (GRCm39)		probably benign	Het
Mkln1	T	A	6: 31,467,479 (GRCm39)	D64E	probably damaging	Het
Mmd2	A	G	5: 142,560,585 (GRCm39)	I112T	probably damaging	Het
Mpl	C	T	4: 118,312,314 (GRCm39)		probably null	Het
Mtmr4	A	G	11: 87,504,353 (GRCm39)	T1044A	possibly damaging	Het
Muc5b	C	A	7: 141,412,908 (GRCm39)	Y1951*	probably null	Het
Myo15a	C	T	11: 60,393,195 (GRCm39)	H2240Y	probably damaging	Het
Nfxl1	A	T	5: 72,697,651 (GRCm39)		probably null	Het
Or11j4	T	C	14: 50,631,005 (GRCm39)	V264A	possibly damaging	Het
Or2ah1	A	T	2: 85,653,794 (GRCm39)	I160F	probably benign	Het
Or4c11c	A	G	2: 88,661,700 (GRCm39)	I80V	probably benign	Het
Or8d2	C	T	9: 38,759,893 (GRCm39)	T161I	probably benign	Het
Piezo2	T	C	18: 63,154,399 (GRCm39)	Y2460C	probably damaging	Het
Pigx	A	G	16: 31,906,129 (GRCm39)	L64P	probably damaging	Het
Prss1	C	T	6: 41,440,615 (GRCm39)	T230I	probably damaging	Het
Ptma	A	G	1: 86,455,569 (GRCm39)		probably null	Het
Rab39	T	C	9: 53,617,331 (GRCm39)	T29A	probably benign	Het
Rem2	C	T	14: 54,715,144 (GRCm39)	A107V	possibly damaging	Het
Senp1	A	G	15: 97,946,152 (GRCm39)	V531A	probably damaging	Het
Serhl	A	G	15: 82,985,843 (GRCm39)		probably null	Het
Sirpa	T	G	2: 129,472,075 (GRCm39)	Y164D	probably damaging	Het
Slc12a3	T	C	8: 95,069,741 (GRCm39)	I550T	possibly damaging	Het
Slc22a14	T	C	9: 119,049,835 (GRCm39)		probably null	Het
Slfn5	A	G	11: 82,851,241 (GRCm39)	N513D	probably damaging	Het
Sptan1	T	C	2: 29,910,467 (GRCm39)	S1831P	possibly damaging	Het
Swap70	T	C	7: 109,855,027 (GRCm39)	L109P	probably benign	Het
Tas2r119	G	A	15: 32,178,319 (GRCm39)	C295Y	probably damaging	Het
Tcaf3	T	A	6: 42,570,172 (GRCm39)	I527L	probably damaging	Het
Traj31	A	G	14: 54,425,387 (GRCm39)		probably benign	Het
Unc5a	T	A	13: 55,152,748 (GRCm39)	D887E	probably benign	Het
Zfp407	T	A	18: 84,450,536 (GRCm39)	H1600L	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
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
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'- CTCCCAGAAAGTCAAGAGGG -3'
(R):5'- TTATGCTTGCTCACAGGGG -3'

Sequencing Primer
(F):5'- TCAAGAGGGGGCAGACTTC -3'
(R):5'- TGGCACACATACACCTTC -3'

Posted On

2018-06-06