Mutagenetix > Incidental Mutation

Incidental Mutation 'R5186:Naf1'

397887

Institutional Source

Beutler Lab

Gene Symbol

Naf1

Ensembl Gene

ENSMUSG00000014907

Gene Name

nuclear assembly factor 1 ribonucleoprotein

Synonyms

LOC234344

MMRRC Submission

042765-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.923) question?

Stock #

R5186 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

67312869-67343216 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 67332298 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 329 (V329I)

Ref Sequence

ENSEMBL: ENSMUSP00000112640 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000118009]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000118009
AA Change: V329I

PolyPhen 2 Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000112640
Gene: ENSMUSG00000014907
AA Change: V329I

Domain	Start	End	E-Value	Type
low complexity region	35	180	N/A	INTRINSIC
low complexity region	192	200	N/A	INTRINSIC
low complexity region	218	246	N/A	INTRINSIC
Pfam:Gar1	280	431	2.3e-48	PFAM
low complexity region	517	532	N/A	INTRINSIC
low complexity region	535	548	N/A	INTRINSIC
low complexity region	570	585	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000212916

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.0%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit complete embryonic lethality between implantation and placentation while heterozygotes show no evident ribosomal pathology. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	T	C	11: 109,982,425 (GRCm39)	I6V	probably null	Het
Aox1	A	G	1: 58,107,529 (GRCm39)	D601G	probably damaging	Het
Asic1	GCACC	GCACCACC	15: 99,596,684 (GRCm39)		probably benign	Het
Cacna1g	T	G	11: 94,333,674 (GRCm39)	N931T	probably damaging	Het
Ccdc14	T	C	16: 34,541,955 (GRCm39)	F511L	probably damaging	Het
Cd177	T	A	7: 24,444,348 (GRCm39)	E710V	probably benign	Het
Cep112	T	C	11: 108,643,386 (GRCm39)	C49R	probably benign	Het
Clip2	G	A	5: 134,551,645 (GRCm39)	T159M	possibly damaging	Het
Dnah2	T	C	11: 69,326,710 (GRCm39)	N3575S	probably damaging	Het
Dnah6	T	A	6: 73,044,410 (GRCm39)	I3234F	probably damaging	Het
Eci3	G	T	13: 35,130,961 (GRCm39)	A302E	possibly damaging	Het
Fam204a	T	C	19: 60,188,421 (GRCm39)	K214E	probably damaging	Het
Fam78a	T	C	2: 31,972,666 (GRCm39)	T85A	possibly damaging	Het
Flnb	T	C	14: 7,909,748 (GRCm38)	Y1401H	probably damaging	Het
Foxl2	A	T	9: 98,838,108 (GRCm39)	D132V	probably damaging	Het
Frs2	C	A	10: 116,914,747 (GRCm39)	W57C	probably damaging	Het
Gm26558	G	T	2: 70,491,761 (GRCm39)		probably benign	Het
Gpr139	A	G	7: 118,744,063 (GRCm39)	V174A	probably benign	Het
Grik5	T	C	7: 24,715,244 (GRCm39)	T676A	probably damaging	Het
H60c	T	C	10: 3,209,273 (GRCm39)		probably null	Het
Hspa1l	A	G	17: 35,197,445 (GRCm39)	K495E	probably damaging	Het
Irgm1	C	T	11: 48,757,044 (GRCm39)	V256I	probably benign	Het
Kat7	T	A	11: 95,177,242 (GRCm39)	T293S	probably benign	Het
Lipg	C	T	18: 75,094,009 (GRCm39)	V13I	probably benign	Het
Lrrn1	A	T	6: 107,546,185 (GRCm39)	Y661F	probably damaging	Het
Mllt3	A	G	4: 87,759,232 (GRCm39)	V272A	probably benign	Het
Mx1	G	A	16: 97,256,694 (GRCm39)	R162C	probably benign	Het
Myo18b	T	A	5: 113,019,336 (GRCm39)	D647V	probably damaging	Het
Or4k40	A	T	2: 111,251,119 (GRCm39)	M59K	probably damaging	Het
Or52u1	A	T	7: 104,237,418 (GRCm39)	I153F	probably damaging	Het
Or8g22	A	T	9: 38,958,265 (GRCm39)	C194*	probably null	Het
P2rx5	G	A	11: 73,062,616 (GRCm39)	V442M	possibly damaging	Het
Pcdhb9	A	G	18: 37,534,285 (GRCm39)	E93G	probably damaging	Het
Pcdhga4	A	T	18: 37,820,479 (GRCm39)	N676I	probably benign	Het
Pgm5	A	G	19: 24,797,492 (GRCm39)	M230T	probably damaging	Het
Pik3c2g	T	C	6: 139,599,016 (GRCm39)	V44A	probably damaging	Het
Pp2d1	T	C	17: 53,815,168 (GRCm39)	M519V	probably benign	Het
Ppp1r10	A	G	17: 36,239,403 (GRCm39)	E404G	probably damaging	Het
Prpf8	A	T	11: 75,380,609 (GRCm39)	E104V	possibly damaging	Het
Ptpra	T	C	2: 30,328,367 (GRCm39)		probably null	Het
Pygl	A	C	12: 70,248,118 (GRCm39)	N248K	probably damaging	Het
Rbm8a	A	G	3: 96,538,248 (GRCm39)	D102G	probably damaging	Het
Sema3d	A	G	5: 12,634,875 (GRCm39)	D647G	probably benign	Het
Serpinb11	A	T	1: 107,307,484 (GRCm39)	D305V	probably damaging	Het
Slc12a8	T	C	16: 33,437,578 (GRCm39)	I337T	probably damaging	Het
Slc29a2	G	A	19: 5,078,995 (GRCm39)	R286Q	probably benign	Het
Slc2a3	T	A	6: 122,712,542 (GRCm39)	D234V	probably damaging	Het
Slco4a1	T	C	2: 180,114,901 (GRCm39)	V608A	probably damaging	Het
Spata31d1e	A	T	13: 59,891,553 (GRCm39)	L89H	probably damaging	Het
Srrm2	C	T	17: 24,035,561 (GRCm39)	T831I	probably benign	Het
St18	T	A	1: 6,872,541 (GRCm39)		probably null	Het
Tesk2	G	C	4: 116,599,093 (GRCm39)	G67A	probably damaging	Het
Tlr1	A	T	5: 65,082,564 (GRCm39)	L671H	probably damaging	Het
Tmem63b	A	T	17: 45,972,403 (GRCm39)	Y735N	possibly damaging	Het
Tmprss11a	C	T	5: 86,567,938 (GRCm39)	C263Y	probably damaging	Het
Trio	A	T	15: 27,898,077 (GRCm39)	V345E	probably damaging	Het
Tut7	A	G	13: 59,964,470 (GRCm39)		probably null	Het
Ubr5	A	G	15: 37,998,160 (GRCm39)	S1674P	probably damaging	Het
Uchl3	T	A	14: 101,933,353 (GRCm39)	C209S	probably damaging	Het
Uhmk1	T	C	1: 170,038,736 (GRCm39)	N206S	probably damaging	Het
Uhrf1	C	T	17: 56,625,340 (GRCm39)	R588W	probably damaging	Het
Usp28	T	C	9: 48,921,550 (GRCm39)	V256A	probably damaging	Het
Utrn	C	A	10: 12,604,521 (GRCm39)	L552F	probably damaging	Het
Vmn1r55	A	T	7: 5,149,985 (GRCm39)	M146K	probably damaging	Het
Vmn1r57	A	C	7: 5,224,107 (GRCm39)	I211L	probably benign	Het
Zar1	C	T	5: 72,734,742 (GRCm39)	C316Y	probably damaging	Het
Zc3h11a	A	T	1: 133,549,412 (GRCm39)	S750T	probably damaging	Het
Zfp366	G	A	13: 99,382,676 (GRCm39)	C613Y	probably benign	Het
Zfp37	A	T	4: 62,109,493 (GRCm39)	C524S	probably damaging	Het
Zfp516	T	C	18: 82,975,218 (GRCm39)	V472A	probably benign	Het
Zhx1	A	T	15: 57,915,819 (GRCm39)	M809K	probably damaging	Het
Zic1	T	C	9: 91,246,424 (GRCm39)	Y216C	probably damaging	Het

Other mutations in Naf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00806:Naf1	APN	8	67,338,452 (GRCm39)	missense	probably damaging	1.00
IGL01861:Naf1	APN	8	67,317,185 (GRCm39)	splice site	probably benign
IGL02817:Naf1	APN	8	67,336,177 (GRCm39)	missense	probably damaging	1.00
R0016:Naf1	UTSW	8	67,341,707 (GRCm39)	splice site	probably benign
R0092:Naf1	UTSW	8	67,341,760 (GRCm39)	missense	probably benign	0.24
R2062:Naf1	UTSW	8	67,340,432 (GRCm39)	missense	probably damaging	1.00
R2065:Naf1	UTSW	8	67,340,432 (GRCm39)	missense	probably damaging	1.00
R2066:Naf1	UTSW	8	67,340,432 (GRCm39)	missense	probably damaging	1.00
R2068:Naf1	UTSW	8	67,340,432 (GRCm39)	missense	probably damaging	1.00
R2209:Naf1	UTSW	8	67,313,188 (GRCm39)	unclassified	probably benign
R4296:Naf1	UTSW	8	67,342,114 (GRCm39)	missense	possibly damaging	0.92
R5560:Naf1	UTSW	8	67,336,197 (GRCm39)	missense	probably damaging	1.00
R6122:Naf1	UTSW	8	67,336,096 (GRCm39)	missense	probably damaging	1.00
R6143:Naf1	UTSW	8	67,330,347 (GRCm39)	missense	possibly damaging	0.95
R6389:Naf1	UTSW	8	67,313,680 (GRCm39)	missense	possibly damaging	0.66
R6827:Naf1	UTSW	8	67,330,343 (GRCm39)	missense	possibly damaging	0.65
R7083:Naf1	UTSW	8	67,313,138 (GRCm39)	unclassified	probably benign
R7444:Naf1	UTSW	8	67,313,200 (GRCm39)	unclassified	probably benign
R7727:Naf1	UTSW	8	67,313,200 (GRCm39)	unclassified	probably benign
R7818:Naf1	UTSW	8	67,342,028 (GRCm39)	missense	probably damaging	0.97
R7860:Naf1	UTSW	8	67,313,165 (GRCm39)	missense	unknown
R7923:Naf1	UTSW	8	67,313,200 (GRCm39)	unclassified	probably benign
R7977:Naf1	UTSW	8	67,313,146 (GRCm39)	unclassified	probably benign
R8420:Naf1	UTSW	8	67,313,200 (GRCm39)	unclassified	probably benign
R8462:Naf1	UTSW	8	67,313,200 (GRCm39)	unclassified	probably benign
R8815:Naf1	UTSW	8	67,317,333 (GRCm39)	missense	possibly damaging	0.65
R8989:Naf1	UTSW	8	67,313,628 (GRCm39)	missense	possibly damaging	0.53
R9138:Naf1	UTSW	8	67,317,198 (GRCm39)	missense	possibly damaging	0.85
R9231:Naf1	UTSW	8	67,313,146 (GRCm39)	unclassified	probably benign
R9283:Naf1	UTSW	8	67,313,503 (GRCm39)	missense	unknown
R9445:Naf1	UTSW	8	67,336,097 (GRCm39)	missense	probably damaging	1.00
R9454:Naf1	UTSW	8	67,313,200 (GRCm39)	unclassified	probably benign
R9680:Naf1	UTSW	8	67,313,200 (GRCm39)	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- TGCACAGCTTGAATTTGTTCAGG -3'
(R):5'- ACTGGTCCATGCAGCCAAAG -3'

Sequencing Primer
(F):5'- CAGCTTGAATTTGTTCAGGACTAATG -3'
(R):5'- TGGTCCATGCAGCCAAAGAATTC -3'

Posted On

2016-07-06