Mutagenetix > Incidental Mutations

Incidental Mutation 'R6122:Naf1'

485773

Institutional Source

Beutler Lab

Gene Symbol

Naf1

Ensembl Gene

ENSMUSG00000014907

Gene Name

nuclear assembly factor 1 ribonucleoprotein

Synonyms

LOC234344

MMRRC Submission

044269-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.954) question?

Stock #

R6122 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

66860217-66890564 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 66883444 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 341 (I341K)

Ref Sequence

ENSEMBL: ENSMUSP00000112640 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000118009
AA Change: I341K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000112640
Gene: ENSMUSG00000014907
AA Change: I341K

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

Meta Mutation Damage Score

0.8195

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.8%

Validation Efficiency

98% (57/58)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034J05Rik	T	C	6: 146,952,252	*301W	probably null	Het
Abat	A	G	16: 8,605,550	I236V	probably benign	Het
Abca8a	T	C	11: 110,070,423	T558A	probably benign	Het
Ace3	A	C	11: 105,994,938	M57L	probably benign	Het
Adgrg1	T	C	8: 95,002,501	S18P	probably benign	Het
Ahi1	A	G	10: 21,058,165	D60G	probably benign	Het
Ap4e1	T	A	2: 127,028,160		probably null	Het
Arnt2	C	A	7: 84,361,565	K34N	probably damaging	Het
Ascc3	T	A	10: 50,617,925	M152K	probably benign	Het
AW551984	A	T	9: 39,593,755	F480L	probably benign	Het
Blvrb	G	A	7: 27,459,348	A58T	possibly damaging	Het
Bpifa1	C	T	2: 154,143,972	T69I	probably benign	Het
Cacna1g	T	A	11: 94,430,171	M1366L	probably benign	Het
Ccdc82	A	G	9: 13,266,412	I361V	probably benign	Het
Clca4b	T	A	3: 144,926,166	I193F	possibly damaging	Het
Crb1	A	T	1: 139,248,948	Y371*	probably null	Het
Cul9	T	C	17: 46,521,928	D1363G	possibly damaging	Het
Cyp2j8	C	T	4: 96,444,640	A490T	probably benign	Het
D430041D05Rik	A	T	2: 104,256,292	S780T	probably benign	Het
Fzd5	G	T	1: 64,735,656	C315*	probably null	Het
Gabrr1	T	C	4: 33,161,695	S340P	probably damaging	Het
Galnt7	T	C	8: 57,526,166	D641G	probably damaging	Het
Gm7133	A	G	1: 97,183,223		noncoding transcript	Het
Heatr5b	A	G	17: 78,813,173	L774P	possibly damaging	Het
Itch	T	A	2: 155,174,065	S157T	probably benign	Het
Itgam	A	C	7: 128,085,652	D398A	probably damaging	Het
Kalrn	G	T	16: 33,985,191	L2659M	possibly damaging	Het
Kcnj14	C	A	7: 45,819,451	R210L	possibly damaging	Het
Kmt2d	T	C	15: 98,860,692		probably benign	Het
Krt2	G	C	15: 101,815,914	T305S	probably damaging	Het
Mcm3ap	A	G	10: 76,506,607	N1645D	probably damaging	Het
Nbea	G	T	3: 56,029,896	H765N	probably damaging	Het
Ncapd3	A	G	9: 27,063,982	I776V	probably benign	Het
Neo1	A	T	9: 58,917,008	D712E	probably benign	Het
Neu1	G	A	17: 34,934,754	V385I	probably benign	Het
Olfr114	C	A	17: 37,589,926	R142S	probably benign	Het
Olfr575	C	A	7: 102,954,804	G273C	probably damaging	Het
Olfr575	A	G	7: 102,955,530	Y24H	probably benign	Het
Pgghg	A	C	7: 140,943,395	T196P	possibly damaging	Het
Pira2	A	T	7: 3,842,446	V313E	probably damaging	Het
Pkd1l2	T	C	8: 117,082,368	R28G	probably benign	Het
Pkhd1l1	T	C	15: 44,557,940	S3035P	probably damaging	Het
Ppp1r9a	T	A	6: 4,905,509	N21K	probably damaging	Het
Prune1	T	C	3: 95,262,243	D216G	probably benign	Het
Ptpn23	G	T	9: 110,387,825		probably benign	Het
Ranbp2	T	A	10: 58,465,529	M668K	probably benign	Het
Rnd2	C	T	11: 101,468,999	L57F	probably damaging	Het
Rpsa	G	T	9: 120,131,036	V222L	probably benign	Het
Sept2	A	G	1: 93,497,376	T45A	probably damaging	Het
Slc12a8	A	T	16: 33,625,014	D260V	probably damaging	Het
Srrm2	G	T	17: 23,820,356	M2087I	possibly damaging	Het
Tg	T	C	15: 66,828,457	L88P	probably damaging	Het
Tns1	A	G	1: 73,952,419		probably null	Het
Topbp1	A	T	9: 103,346,961	D1429V	probably benign	Het
Tprg	A	G	16: 25,422,401		probably null	Het
Trit1	T	C	4: 123,039,468	I66T	possibly damaging	Het
Usf3	A	T	16: 44,217,307	I717L	probably damaging	Het

Other mutations in Naf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00806:Naf1	APN	8	66885800	missense	probably damaging	1.00
IGL01861:Naf1	APN	8	66864533	splice site	probably benign
IGL02817:Naf1	APN	8	66883525	missense	probably damaging	1.00
R0016:Naf1	UTSW	8	66889055	splice site	probably benign
R0092:Naf1	UTSW	8	66889108	missense	probably benign	0.24
R2062:Naf1	UTSW	8	66887780	missense	probably damaging	1.00
R2065:Naf1	UTSW	8	66887780	missense	probably damaging	1.00
R2066:Naf1	UTSW	8	66887780	missense	probably damaging	1.00
R2068:Naf1	UTSW	8	66887780	missense	probably damaging	1.00
R2209:Naf1	UTSW	8	66860536	unclassified	probably benign
R4296:Naf1	UTSW	8	66889462	missense	possibly damaging	0.92
R5186:Naf1	UTSW	8	66879646	missense	probably benign	0.10
R5560:Naf1	UTSW	8	66883545	missense	probably damaging	1.00
R6143:Naf1	UTSW	8	66877695	missense	possibly damaging	0.95
R6389:Naf1	UTSW	8	66861028	missense	possibly damaging	0.66
R6827:Naf1	UTSW	8	66877691	missense	possibly damaging	0.65
R7083:Naf1	UTSW	8	66860486	unclassified	probably benign
R7444:Naf1	UTSW	8	66860548	unclassified	probably benign
R7727:Naf1	UTSW	8	66860548	unclassified	probably benign
R7818:Naf1	UTSW	8	66889376	missense	probably damaging	0.97
R7860:Naf1	UTSW	8	66860513	missense	unknown
R7923:Naf1	UTSW	8	66860548	unclassified	probably benign
R7977:Naf1	UTSW	8	66860494	unclassified	probably benign
R8420:Naf1	UTSW	8	66860548	unclassified	probably benign
R8462:Naf1	UTSW	8	66860548	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- TTCACTTTCCAAAATGCCAGC -3'
(R):5'- GCAACGAAGCACTTACTGTTTG -3'

Sequencing Primer
(F):5'- GCCAGCATTTTATGACAACAATG -3'
(R):5'- GAAGCACTTACTGTTTGAGCTTTTC -3'

Posted On

2017-08-16