Mutagenetix > Incidental Mutation

Incidental Mutation 'R0701:Nckap5'

62989

Institutional Source

Beutler Lab

Gene Symbol

Nckap5

Ensembl Gene

ENSMUSG00000049690

Gene Name

NCK-associated protein 5

Synonyms

LOC380609, D130011D22Rik, E030049G20Rik

MMRRC Submission

038884-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0701 (G1)

Quality Score

126

Status

Not validated

Chromosome

Chromosomal Location

125841373-126758529 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 125953094 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 1089 (F1089L)

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: F1089L

PolyPhen 2 Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000062229
Gene: ENSMUSG00000049690
AA Change: F1089L

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: F1221L

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

SMART Domains

Protein: ENSMUSP00000108202
Gene: ENSMUSG00000049690
AA Change: F1221L

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: F1153L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000125624
Gene: ENSMUSG00000049690
AA Change: F1153L

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: 96.5%
20x: 91.3%

Validation Efficiency

Allele List at MGI

All alleles(1) : Gene trapped(1)

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ada	A	G	2: 163,571,995 (GRCm39)	V261A	probably benign	Het
Arhgef10	T	A	8: 15,012,636 (GRCm39)	V320E	probably damaging	Het
Arhgef11	G	T	3: 87,640,766 (GRCm39)	A1308S	probably benign	Het
Bach1	G	A	16: 87,516,877 (GRCm39)	E473K	probably damaging	Het
Bsph1	G	T	7: 13,206,181 (GRCm39)	C72F	probably damaging	Het
C2cd2l	A	G	9: 44,227,499 (GRCm39)	L186P	probably damaging	Het
C9	A	C	15: 6,496,902 (GRCm39)	T200P	probably damaging	Het
Cald1	AAGAGAGAGAGAGAG	AAGAGAGAGAGAG	6: 34,723,108 (GRCm39)		probably null	Het
Chd1	C	A	17: 15,945,693 (GRCm39)	N72K	probably benign	Het
Copg1	T	A	6: 87,871,089 (GRCm39)	Y268*	probably null	Het
Csad	A	G	15: 102,087,571 (GRCm39)	S331P	probably benign	Het
Ddx31	G	T	2: 28,748,789 (GRCm39)	R239L	probably null	Het
Fat1	G	T	8: 45,479,590 (GRCm39)	A2879S	probably benign	Het
Fig4	T	A	10: 41,116,508 (GRCm39)	R628*	probably null	Het
Fmnl3	T	C	15: 99,219,188 (GRCm39)	N778S	probably damaging	Het
Gm10912	T	C	2: 103,896,875 (GRCm39)	S5P	probably benign	Het
Haus3	G	A	5: 34,323,359 (GRCm39)	T417M	probably benign	Het
Herc1	T	G	9: 66,395,232 (GRCm39)	V4189G	probably damaging	Het
Hoxb3	C	A	11: 96,237,074 (GRCm39)	S384*	probably null	Het
Ifnar2	A	G	16: 91,201,117 (GRCm39)	T453A	possibly damaging	Het
Ift140	A	G	17: 25,309,907 (GRCm39)	T1105A	probably benign	Het
Kmt2e	T	C	5: 23,678,581 (GRCm39)	V220A	probably benign	Het
Lrriq1	A	T	10: 103,069,905 (GRCm39)	V37E	probably benign	Het
Lrrn4	G	A	2: 132,712,080 (GRCm39)	T581M	probably benign	Het
Mcur1	T	C	13: 43,699,216 (GRCm39)	Y267C	probably damaging	Het
Mdn1	T	A	4: 32,699,263 (GRCm39)	D1313E	probably benign	Het
Med13	T	A	11: 86,197,864 (GRCm39)	T736S	probably benign	Het
Mlh3	A	T	12: 85,314,677 (GRCm39)	I503K	probably benign	Het
Or1e35	A	T	11: 73,797,655 (GRCm39)	I221N	probably damaging	Het
Or4c10	A	G	2: 89,760,545 (GRCm39)	T131A	probably benign	Het
Or4k48	C	T	2: 111,476,136 (GRCm39)	V69I	probably benign	Het
Pdgfd	A	T	9: 6,359,706 (GRCm39)	D259V	probably damaging	Het
Pramel22	C	T	4: 143,383,010 (GRCm39)	E70K	possibly damaging	Het
R3hdm1	A	G	1: 128,109,476 (GRCm39)	Y309C	probably damaging	Het
Rab27b	A	T	18: 70,118,270 (GRCm39)	C216S	probably damaging	Het
Robo2	A	G	16: 73,843,762 (GRCm39)	I151T	probably damaging	Het
Sh2d4a	A	G	8: 68,783,747 (GRCm39)	D227G	probably damaging	Het
Sis	G	T	3: 72,848,378 (GRCm39)	T632K	probably damaging	Het
Smcr8	T	C	11: 60,668,941 (GRCm39)	Y30H	probably damaging	Het
Stap1	T	C	5: 86,242,667 (GRCm39)		probably null	Het
Syt16	G	A	12: 74,281,886 (GRCm39)	V337I	probably benign	Het
Taf1c	A	T	8: 120,326,722 (GRCm39)	I438N	probably damaging	Het
Ttn	A	G	2: 76,728,412 (GRCm39)		probably benign	Het
Unc45b	T	A	11: 82,831,031 (GRCm39)	L797Q	possibly damaging	Het
Usp6nl	A	G	2: 6,419,829 (GRCm39)	E144G	possibly damaging	Het
Wiz	A	T	17: 32,575,415 (GRCm39)	I907N	probably damaging	Het
Zap70	G	A	1: 36,820,258 (GRCm39)	R513Q	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
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

Predicted Primers

PCR Primer
(F):5'- TTGCTTGGGGACCCTTCCATTG -3'
(R):5'- GACTCCAAAGACCCTGCAAGTCTG -3'

Sequencing Primer
(F):5'- GGGGACCCTTCCATTGAGATATTC -3'
(R):5'- CTGCAAGTCTGGAGACCTCAAG -3'

Posted On

2013-07-30