Mutagenetix > Incidental Mutation

Incidental Mutation 'R4291:Nom1'

323054

Institutional Source

Beutler Lab

Gene Symbol

Nom1

Ensembl Gene

ENSMUSG00000001569

Gene Name

nucleolar protein with MIF4G domain 1

Synonyms

LOC381627, D5Kng1, Gm1040

MMRRC Submission

041081-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4291 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

29637338-29658504 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to A at 29651370 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000001611 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001611]

AlphaFold

Q3UFM5

Predicted Effect

probably null
Transcript: ENSMUST00000001611

SMART Domains

Protein: ENSMUSP00000001611
Gene: ENSMUSG00000001569

Domain	Start	End	E-Value	Type
low complexity region	79	98	N/A	INTRINSIC
low complexity region	102	114	N/A	INTRINSIC
low complexity region	119	147	N/A	INTRINSIC
coiled coil region	170	197	N/A	INTRINSIC
low complexity region	227	250	N/A	INTRINSIC
low complexity region	311	326	N/A	INTRINSIC
MIF4G	356	553	1.1e-21	SMART
MA3	649	755	1.59e-22	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146347

Meta Mutation Damage Score

0.9596

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.6%
20x: 96.0%

Validation Efficiency

100% (62/62)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Proteins that contain MIF4G (middle of eIF4G (MIM 600495)) and/or MA3 domains, such as NOM1, function in protein translation. These domains include binding sites for members of the EIF4A family of ATP-dependent DEAD box RNA helicases (see EIF4A1; MIM 602641) (Simmons et al., 2005 [PubMed 15715967]).[supplied by OMIM, Mar 2008]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad9	T	C	3: 36,120,337 (GRCm39)	F27S	probably benign	Het
AK157302	T	A	13: 21,679,715 (GRCm39)	D80E	probably damaging	Het
Amz2	T	C	11: 109,324,881 (GRCm39)		probably null	Het
Angel1	A	G	12: 86,767,057 (GRCm39)	Y440H	probably damaging	Het
Ankrd34c	T	A	9: 89,611,817 (GRCm39)	K175*	probably null	Het
Arid1b	C	A	17: 5,090,938 (GRCm39)	S546R	probably damaging	Het
Atf6b	T	A	17: 34,871,648 (GRCm39)	M428K	probably benign	Het
Brpf3	G	A	17: 29,042,949 (GRCm39)	V997M	probably benign	Het
Cckar	A	G	5: 53,863,839 (GRCm39)	S41P	probably benign	Het
Cd96	T	A	16: 45,892,112 (GRCm39)	Q292L	probably damaging	Het
Cdh18	C	A	15: 22,714,637 (GRCm39)		probably benign	Het
Cfb	T	G	17: 35,080,114 (GRCm39)	D122A	possibly damaging	Het
Copa	G	T	1: 171,919,964 (GRCm39)		probably benign	Het
Ctnna2	T	A	6: 76,859,728 (GRCm39)	K854N	probably damaging	Het
Cwh43	G	A	5: 73,569,275 (GRCm39)	V106M	probably benign	Het
Dact2	C	T	17: 14,416,833 (GRCm39)	E456K	probably benign	Het
Dnah8	T	C	17: 30,967,533 (GRCm39)	S2582P	probably benign	Het
Eef2	A	G	10: 81,015,414 (GRCm39)	T312A	probably benign	Het
Enpep	T	A	3: 129,063,966 (GRCm39)	R934*	probably null	Het
Fam240b	A	T	13: 64,629,627 (GRCm39)	M63K	possibly damaging	Het
Fhdc1	C	A	3: 84,352,133 (GRCm39)	V1031F	probably benign	Het
Gm6124	A	T	7: 38,872,195 (GRCm39)		noncoding transcript	Het
Gsn	G	A	2: 35,180,432 (GRCm39)	V147I	probably benign	Het
Gucy1a1	A	T	3: 82,002,066 (GRCm39)	F671Y	possibly damaging	Het
Hectd3	A	G	4: 116,852,889 (GRCm39)	E97G	probably damaging	Het
Kcnv1	G	A	15: 44,977,840 (GRCm39)	T66M	probably damaging	Het
Krba1	C	T	6: 48,392,599 (GRCm39)	P802S	possibly damaging	Het
Lca5l	C	T	16: 95,979,974 (GRCm39)	S52N	probably damaging	Het
Lmf1	T	C	17: 25,873,455 (GRCm39)	L320P	probably damaging	Het
Map3k4	G	T	17: 12,474,147 (GRCm39)	Q845K	probably benign	Het
Mapkapk3	T	C	9: 107,136,131 (GRCm39)		probably benign	Het
Mccc1	A	G	3: 36,044,217 (GRCm39)	V203A	probably damaging	Het
Mcm9	C	A	10: 53,423,668 (GRCm39)	M677I	probably benign	Het
Mkrn2	A	G	6: 115,594,395 (GRCm39)	T369A	possibly damaging	Het
Mthfr	C	A	4: 148,139,949 (GRCm39)	N623K	probably damaging	Het
Myh2	T	C	11: 67,071,985 (GRCm39)	V571A	probably benign	Het
Nucb1	T	A	7: 45,144,704 (GRCm39)	D283V	probably damaging	Het
Or12e8	G	A	2: 87,188,419 (GRCm39)	M210I	probably benign	Het
Or14c46	A	T	7: 85,918,968 (GRCm39)	F10I	probably damaging	Het
Or2v2	T	A	11: 49,004,254 (GRCm39)	I100L	probably benign	Het
Pcdhb1	A	C	18: 37,398,470 (GRCm39)	L140F	probably damaging	Het
Ptgs2	G	A	1: 149,976,002 (GRCm39)	A10T	probably benign	Het
Rfx3	C	T	19: 27,777,632 (GRCm39)	R497Q	probably damaging	Het
Rps6kb1	A	T	11: 86,410,702 (GRCm39)		probably benign	Het
Slc22a21	T	C	11: 53,860,329 (GRCm39)	D34G	probably damaging	Het
Spata13	T	A	14: 60,947,004 (GRCm39)	M684K	probably damaging	Het
Tet3	T	C	6: 83,350,181 (GRCm39)	T961A	probably damaging	Het
Ttc27	T	C	17: 75,163,474 (GRCm39)	L694P	probably damaging	Het
Vmn1r238	G	A	18: 3,123,214 (GRCm39)	Q67*	probably null	Het
Vmn2r101	A	T	17: 19,832,303 (GRCm39)	R766S	probably damaging	Het
Vwf	A	T	6: 125,619,285 (GRCm39)	Y1321F	probably damaging	Het
Wfdc1	C	A	8: 120,406,194 (GRCm39)	P103Q	probably damaging	Het
Zfp488	C	A	14: 33,692,851 (GRCm39)	C104F	possibly damaging	Het

Other mutations in Nom1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01475:Nom1	APN	5	29,651,272 (GRCm39)	missense	possibly damaging	0.74
IGL01795:Nom1	APN	5	29,651,869 (GRCm39)	missense	probably benign	0.06
IGL02308:Nom1	APN	5	29,642,708 (GRCm39)	missense	probably damaging	1.00
IGL02378:Nom1	APN	5	29,656,124 (GRCm39)	nonsense	probably null
IGL02506:Nom1	APN	5	29,644,814 (GRCm39)	splice site	probably benign
R0633:Nom1	UTSW	5	29,656,098 (GRCm39)	missense	probably damaging	1.00
R0652:Nom1	UTSW	5	29,640,309 (GRCm39)	missense	probably damaging	1.00
R1571:Nom1	UTSW	5	29,647,633 (GRCm39)	nonsense	probably null
R1707:Nom1	UTSW	5	29,640,316 (GRCm39)	missense	probably damaging	0.99
R1852:Nom1	UTSW	5	29,651,876 (GRCm39)	missense	possibly damaging	0.46
R2025:Nom1	UTSW	5	29,651,849 (GRCm39)	missense	probably damaging	1.00
R2196:Nom1	UTSW	5	29,641,019 (GRCm39)	missense	probably benign	0.00
R2207:Nom1	UTSW	5	29,644,972 (GRCm39)	missense	probably damaging	1.00
R2256:Nom1	UTSW	5	29,642,750 (GRCm39)	missense	probably damaging	1.00
R2257:Nom1	UTSW	5	29,642,750 (GRCm39)	missense	probably damaging	1.00
R2680:Nom1	UTSW	5	29,648,415 (GRCm39)	missense	probably damaging	1.00
R3439:Nom1	UTSW	5	29,640,615 (GRCm39)	missense	probably benign	0.01
R4587:Nom1	UTSW	5	29,656,163 (GRCm39)	missense	possibly damaging	0.91
R5374:Nom1	UTSW	5	29,646,377 (GRCm39)	missense	probably damaging	1.00
R5761:Nom1	UTSW	5	29,642,639 (GRCm39)	missense	probably damaging	1.00
R5772:Nom1	UTSW	5	29,651,873 (GRCm39)	missense	possibly damaging	0.81
R5828:Nom1	UTSW	5	29,640,124 (GRCm39)	missense	possibly damaging	0.53
R5963:Nom1	UTSW	5	29,642,768 (GRCm39)	missense	probably damaging	1.00
R6208:Nom1	UTSW	5	29,654,617 (GRCm39)	missense	possibly damaging	0.83
R7234:Nom1	UTSW	5	29,640,451 (GRCm39)	missense	probably benign	0.01
R7476:Nom1	UTSW	5	29,647,534 (GRCm39)	missense	probably benign	0.29
R8848:Nom1	UTSW	5	29,645,137 (GRCm39)	missense	probably damaging	1.00
R9018:Nom1	UTSW	5	29,639,712 (GRCm39)	missense	possibly damaging	0.53
R9284:Nom1	UTSW	5	29,647,532 (GRCm39)	missense	probably damaging	0.99
R9390:Nom1	UTSW	5	29,639,766 (GRCm39)	missense	probably benign
R9608:Nom1	UTSW	5	29,642,750 (GRCm39)	missense	probably damaging	1.00
R9681:Nom1	UTSW	5	29,642,623 (GRCm39)	missense	probably damaging	0.99
Z1177:Nom1	UTSW	5	29,654,676 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGGGGTACATGACATGAAATTCAC -3'
(R):5'- ACAATCATTCCAGCTGTGACAG -3'

Sequencing Primer
(F):5'- ACATGACATGAAATTCACAAAGAATC -3'
(R):5'- TTCCAGCTGTGACAGACCAG -3'

Posted On

2015-06-20