Mutagenetix > Incidental Mutation

Incidental Mutation 'R7083:Naf1'

549684

Institutional Source

Beutler Lab

Gene Symbol

Naf1

Ensembl Gene

ENSMUSG00000014907

Gene Name

nuclear assembly factor 1 ribonucleoprotein

Synonyms

LOC234344

MMRRC Submission

045177-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.937) question?

Stock #

R7083 (G1)

Quality Score

213.468

Status

Not validated

Chromosome

Chromosomal Location

67312869-67343216 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

GCCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGA to GCCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGA at 67313138 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000118009

SMART Domains

Protein: ENSMUSP00000112640
Gene: ENSMUSG00000014907

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam21	A	T	12: 81,607,015 (GRCm39)	M249K	possibly damaging	Het
Arhgef38	T	A	3: 132,838,197 (GRCm39)	Q613L	unknown	Het
Arpp21	A	G	9: 112,012,612 (GRCm39)	V70A	probably benign	Het
AW551984	T	C	9: 39,508,943 (GRCm39)	N327S	probably damaging	Het
Bnc1	T	C	7: 81,623,058 (GRCm39)	K723R	probably damaging	Het
Btbd7	A	G	12: 102,754,594 (GRCm39)	L724P	probably damaging	Het
Btnl10	G	T	11: 58,809,963 (GRCm39)	V35F	probably damaging	Het
Cd22	T	A	7: 30,567,473 (GRCm39)	T704S	probably damaging	Het
Cd4	T	G	6: 124,847,535 (GRCm39)	S210R	probably benign	Het
Cped1	A	G	6: 22,123,579 (GRCm39)	Q444R	probably benign	Het
Dusp26	A	G	8: 31,581,747 (GRCm39)		probably benign	Het
Dync1i1	C	T	6: 5,969,429 (GRCm39)	A418V	probably damaging	Het
Fibp	A	G	19: 5,513,659 (GRCm39)	D232G	probably damaging	Het
Frem2	T	A	3: 53,444,914 (GRCm39)	T2406S	probably damaging	Het
Gm40460	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 141,794,450 (GRCm39)		probably benign	Het
Gpr39	T	A	1: 125,605,155 (GRCm39)	W28R	probably damaging	Het
Greb1	A	G	12: 16,773,315 (GRCm39)	V253A	probably benign	Het
Hexim1	T	G	11: 103,007,992 (GRCm39)	L82W	possibly damaging	Het
Hmga1	G	T	17: 27,779,945 (GRCm39)	R49L	possibly damaging	Het
Irag2	A	T	6: 145,115,509 (GRCm39)	N349I	probably damaging	Het
Itch	A	T	2: 155,052,364 (GRCm39)	N655Y	probably damaging	Het
Izumo2	A	G	7: 44,359,757 (GRCm39)	E129G	probably damaging	Het
Klk1b24	G	A	7: 43,841,225 (GRCm39)	C186Y	probably damaging	Het
Lnx1	G	A	5: 74,788,846 (GRCm39)	S31F	possibly damaging	Het
Lrrc37a	T	C	11: 103,394,166 (GRCm39)	I420V	probably benign	Het
Ltk	A	C	2: 119,582,555 (GRCm39)	C776G	probably damaging	Het
Mast4	A	C	13: 102,874,223 (GRCm39)	L1715R	probably damaging	Het
Med28	T	C	5: 45,680,878 (GRCm39)		probably null	Het
Nckap1l	C	A	15: 103,390,551 (GRCm39)	T774K	probably damaging	Het
Nfkbiz	T	C	16: 55,638,663 (GRCm39)	K266E	possibly damaging	Het
Ntrk3	T	A	7: 77,900,587 (GRCm39)	D584V	probably damaging	Het
Or1o1	T	C	17: 37,717,063 (GRCm39)	V208A	probably benign	Het
Or2h15	T	A	17: 38,441,601 (GRCm39)	T161S	probably benign	Het
Or4c126	A	G	2: 89,824,201 (GRCm39)	I155V	probably benign	Het
Or4n4b	G	A	14: 50,536,736 (GRCm39)	T10I	possibly damaging	Het
Or5h25	T	C	16: 58,930,400 (GRCm39)	D191G	probably damaging	Het
Picalm	T	A	7: 89,825,976 (GRCm39)	I376K	probably benign	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Prps1l3	A	T	12: 57,286,034 (GRCm39)	I275L	probably benign	Het
Psg26	G	A	7: 18,213,934 (GRCm39)	R243*	probably null	Het
Ranbp2	A	G	10: 58,315,052 (GRCm39)	H1924R	probably damaging	Het
Rasef	T	C	4: 73,709,221 (GRCm39)	D4G	probably benign	Het
Rttn	T	C	18: 89,108,722 (GRCm39)	L1642P	probably damaging	Het
Shroom3	T	C	5: 93,112,384 (GRCm39)	L1915P	probably damaging	Het
Slc26a10	A	G	10: 127,013,037 (GRCm39)	V319A	probably damaging	Het
Slc4a10	A	G	2: 62,064,839 (GRCm39)	N231S	probably benign	Het
Sox18	T	C	2: 181,312,165 (GRCm39)	Q322R	possibly damaging	Het
Sting1	T	C	18: 35,867,703 (GRCm39)	H331R	probably damaging	Het
Syde1	G	T	10: 78,422,903 (GRCm39)	P490T	probably benign	Het
Syne2	A	G	12: 75,990,662 (GRCm39)	I1881M	probably damaging	Het
Taf1c	T	C	8: 120,327,407 (GRCm39)	D387G	probably damaging	Het
Tenm4	T	A	7: 96,544,556 (GRCm39)	Y2228N	probably damaging	Het
Tubgcp5	C	T	7: 55,450,443 (GRCm39)	Q185*	probably null	Het
Vmn2r44	T	A	7: 8,381,369 (GRCm39)	I175F	probably benign	Het
Zdhhc7	C	A	8: 120,812,166 (GRCm39)	C152F	probably damaging	Het
Zfp52	T	A	17: 21,780,392 (GRCm39)	M80K	possibly damaging	Het
Zfp612	T	C	8: 110,815,768 (GRCm39)	I325T	probably damaging	Het
Zmiz1	T	G	14: 25,652,372 (GRCm39)	F597V	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
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'- CTAGCTTGGCTTCTGAGGAGA -3'
(R):5'- TGGTCTTCCGCCGGGATC -3'

Sequencing Primer
(F):5'- AGACCCTCGCGCTGCTC -3'
(R):5'- TGGTCTTCCGCCGGGATC -3'

Posted On

2019-05-15