Mutagenetix > Incidental Mutation

Incidental Mutation 'R8989:Naf1'

684297

Institutional Source

Beutler Lab

Gene Symbol

Naf1

Ensembl Gene

ENSMUSG00000014907

Gene Name

nuclear assembly factor 1 ribonucleoprotein

Synonyms

LOC234344

MMRRC Submission

068821-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.923) question?

Stock #

R8989 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

67312869-67343216 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 67313628 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 204 (T204A)

Ref Sequence

ENSEMBL: ENSMUSP00000112640 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000118009
AA Change: T204A

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000112640
Gene: ENSMUSG00000014907
AA Change: T204A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

100% (62/62)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	A	G	13: 77,760,724 (GRCm39)	I1260M	probably benign	Het
A1cf	T	A	19: 31,904,556 (GRCm39)	F273Y	possibly damaging	Het
A3galt2	T	C	4: 128,655,231 (GRCm39)	W45R	probably damaging	Het
Adam23	A	G	1: 63,588,948 (GRCm39)	E460G	probably damaging	Het
Ago1	T	A	4: 126,357,583 (GRCm39)	T31S	probably benign	Het
Ago3	T	A	4: 126,298,191 (GRCm39)	T110S	probably damaging	Het
Akap6	T	C	12: 52,927,654 (GRCm39)	F188S	probably damaging	Het
Asic2	G	A	11: 81,043,180 (GRCm39)	P38S	probably benign	Het
Astn2	A	T	4: 65,499,890 (GRCm39)	C1000S	possibly damaging	Het
Atp10b	T	A	11: 43,136,269 (GRCm39)	C1132*	probably null	Het
Atp7b	A	T	8: 22,510,911 (GRCm39)	S527T	probably benign	Het
Bod1l	G	A	5: 41,979,025 (GRCm39)	T763I	probably benign	Het
Capn11	A	G	17: 45,954,783 (GRCm39)	L118P	probably damaging	Het
Col13a1	T	C	10: 61,696,250 (GRCm39)	E589G	unknown	Het
Col6a2	T	C	10: 76,440,015 (GRCm39)	D630G	probably damaging	Het
Ctnnd2	G	A	15: 30,669,660 (GRCm39)	R423H	probably damaging	Het
Dld	G	A	12: 31,383,458 (GRCm39)	T447I	probably damaging	Het
Eif4g3	T	C	4: 137,912,059 (GRCm39)	L1227S	probably damaging	Het
Elac1	C	A	18: 73,880,310 (GRCm39)	E29*	probably null	Het
Entrep1	T	A	19: 23,962,196 (GRCm39)	Q269L	probably damaging	Het
Ephb6	C	T	6: 41,590,293 (GRCm39)	A15V	probably benign	Het
Fancc	G	T	13: 63,548,090 (GRCm39)	L70M	possibly damaging	Het
Fgd6	T	A	10: 93,959,425 (GRCm39)	M1041K	probably damaging	Het
Fn1	A	G	1: 71,663,446 (GRCm39)	V1014A	possibly damaging	Het
Galnt1	C	T	18: 24,402,567 (GRCm39)	T308I	possibly damaging	Het
Garre1	T	C	7: 33,956,869 (GRCm39)	Q332R	probably damaging	Het
Gpr63	T	A	4: 25,007,357 (GRCm39)	V27D	possibly damaging	Het
Hcfc2	T	C	10: 82,536,822 (GRCm39)	V78A	probably damaging	Het
Hexd	T	A	11: 121,109,136 (GRCm39)		probably benign	Het
Hipk1	T	C	3: 103,668,960 (GRCm39)	T479A	possibly damaging	Het
Hkdc1	T	C	10: 62,229,544 (GRCm39)	D711G	probably damaging	Het
Ifna16	A	T	4: 88,594,912 (GRCm39)	F61Y	probably damaging	Het
Insrr	T	A	3: 87,722,664 (GRCm39)	N1295K	probably damaging	Het
Kif5b	T	A	18: 6,209,021 (GRCm39)	R914W	probably damaging	Het
Lpo	T	C	11: 87,708,660 (GRCm39)	T113A	probably benign	Het
Mmp21	T	C	7: 133,276,746 (GRCm39)	D419G	probably damaging	Het
Nsmce4a	T	C	7: 130,141,587 (GRCm39)	T201A	probably benign	Het
Nup160	T	A	2: 90,548,208 (GRCm39)	N980K	probably damaging	Het
Odad2	T	C	18: 7,268,464 (GRCm39)	K352E	probably benign	Het
Or13c7d	T	C	4: 43,770,346 (GRCm39)	I222V	possibly damaging	Het
Or14j2	A	T	17: 37,885,542 (GRCm39)	F257L	probably benign	Het
Or2d3c	T	A	7: 106,526,366 (GRCm39)	Q100L	probably damaging	Het
Pcdhb19	A	G	18: 37,631,476 (GRCm39)	T424A	probably benign	Het
Pclo	C	T	5: 14,719,325 (GRCm39)	A1154V	unknown	Het
Pramel28	C	A	4: 143,691,770 (GRCm39)	A318S	probably benign	Het
Psma8	T	A	18: 14,890,404 (GRCm39)	D181E	probably benign	Het
Rhpn2	C	A	7: 35,053,446 (GRCm39)		probably benign	Het
Serpinb6e	G	T	13: 34,022,967 (GRCm39)	H139N	possibly damaging	Het
Slc26a7	T	A	4: 14,533,642 (GRCm39)	I394F	probably damaging	Het
Spmip5	T	C	19: 58,776,153 (GRCm39)	E100G	probably damaging	Het
Stxbp5l	ATTTT	ATTTTT	16: 37,036,414 (GRCm39)		probably null	Het
Taok3	T	C	5: 117,379,227 (GRCm39)	S421P	probably benign	Het
Tas2r143	T	G	6: 42,377,828 (GRCm39)	D219E	probably damaging	Het
Tcaf1	G	A	6: 42,663,707 (GRCm39)	R58C	probably damaging	Het
Tenm3	A	T	8: 48,688,383 (GRCm39)	Y2401*	probably null	Het
Tut1	T	C	19: 8,937,116 (GRCm39)	V200A	possibly damaging	Het
Unc5c	T	A	3: 141,509,467 (GRCm39)		probably benign	Het
Vmn2r28	T	G	7: 5,493,473 (GRCm39)	I158L	probably benign	Het
Vmn2r72	T	A	7: 85,404,134 (GRCm39)	H19L	probably benign	Het
Xpo4	A	G	14: 57,828,475 (GRCm39)	M795T	probably benign	Het
Zc3h12a	C	A	4: 125,014,743 (GRCm39)	R247L	probably damaging	Het
Zfp521	C	A	18: 13,979,137 (GRCm39)	L425F	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
R5186:Naf1	UTSW	8	67,332,298 (GRCm39)	missense	probably benign	0.10
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
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'- ATCCCGGCGGAAGACCAC -3'
(R):5'- GTAGCTGGGACCATGGGAAG -3'

Sequencing Primer
(F):5'- AACTCGGATCCCGGCGGAAGACCGA -3'
(R):5'- TGGGACCATGGGAAGCACTC -3'

Posted On

2021-10-11