Mutagenetix > Incidental Mutation

Incidental Mutation 'R5828:Nom1'

450254

Institutional Source

Beutler Lab

Gene Symbol

Nom1

Ensembl Gene

ENSMUSG00000001569

Gene Name

nucleolar protein with MIF4G domain 1

Synonyms

LOC381627, D5Kng1, Gm1040

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5828 (G1)

Quality Score

133

Status

Validated

Chromosome

Chromosomal Location

29637338-29658504 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 29640124 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 150 (K150R)

Ref Sequence

ENSEMBL: ENSMUSP00000001611 (fasta)

Gene Model

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

AlphaFold

Q3UFM5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000001611
AA Change: K150R

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

SMART Domains

Protein: ENSMUSP00000001611
Gene: ENSMUSG00000001569
AA Change: K150R

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

Meta Mutation Damage Score

0.1121

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.8%

Validation Efficiency

100% (63/63)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933409G03Rik	A	G	2: 68,432,144 (GRCm39)	D95G	unknown	Het
Arl10	T	A	13: 54,726,768 (GRCm39)	V182E	probably damaging	Het
Cacna1g	T	G	11: 94,347,980 (GRCm39)	S703R	probably damaging	Het
Ces2a	C	A	8: 105,465,956 (GRCm39)	T363N	probably benign	Het
Col14a1	G	A	15: 55,300,372 (GRCm39)	V967I	unknown	Het
Col22a1	A	T	15: 71,881,340 (GRCm39)	F4I	probably benign	Het
D630045J12Rik	A	G	6: 38,173,302 (GRCm39)	W289R	possibly damaging	Het
Disc1	A	G	8: 125,977,763 (GRCm39)	Q793R	probably damaging	Het
Dnhd1	C	T	7: 105,369,388 (GRCm39)	T4337I	probably benign	Het
Eif2b5	T	A	16: 20,321,536 (GRCm39)	V363D	possibly damaging	Het
Emsy	T	C	7: 98,242,699 (GRCm39)	T1147A	probably benign	Het
Epg5	T	A	18: 78,064,066 (GRCm39)	Y2048N	probably damaging	Het
Fchsd1	C	T	18: 38,092,926 (GRCm39)		probably benign	Het
Foxred1	A	G	9: 35,121,492 (GRCm39)		probably benign	Het
Gpaa1	T	C	15: 76,216,471 (GRCm39)		probably benign	Het
Gria4	A	C	9: 4,432,832 (GRCm39)	L784V	probably damaging	Het
Homer3	A	G	8: 70,738,956 (GRCm39)	Y105C	probably benign	Het
Hpgd	T	C	8: 56,772,106 (GRCm39)	S193P	probably benign	Het
Irf1	T	A	11: 53,666,762 (GRCm39)	W247R	probably benign	Het
Lpgat1	A	G	1: 191,508,494 (GRCm39)	Q344R	possibly damaging	Het
Luzp1	T	C	4: 136,267,993 (GRCm39)	V72A	probably damaging	Het
Malrd1	G	A	2: 15,531,464 (GRCm39)	V8M	probably benign	Het
Msmo1	T	C	8: 65,172,144 (GRCm39)	H253R	probably damaging	Het
Onecut1	A	G	9: 74,770,042 (GRCm39)	E155G	probably benign	Het
Or12k7	A	G	2: 36,959,001 (GRCm39)	H228R	probably benign	Het
Or14c46	T	A	7: 85,918,728 (GRCm39)	M90L	probably benign	Het
Or5p59	T	C	7: 107,703,005 (GRCm39)	V163A	possibly damaging	Het
Osbpl10	G	A	9: 114,890,944 (GRCm39)	V111M	probably damaging	Het
Pcdhgb6	T	C	18: 37,877,457 (GRCm39)	S722P	probably benign	Het
Plin4	T	A	17: 56,414,064 (GRCm39)	D187V	probably damaging	Het
Pmf1	T	C	3: 88,303,294 (GRCm39)	E89G	possibly damaging	Het
Polr1d	A	T	5: 147,014,408 (GRCm39)		probably benign	Het
Ppp1r9a	T	C	6: 5,158,200 (GRCm39)	Y1006H	probably damaging	Het
Ppp2r5c	A	G	12: 110,537,134 (GRCm39)	K420E	probably benign	Het
Prdx1	T	C	4: 116,551,006 (GRCm39)	L159P	probably damaging	Het
Psmd6	G	T	14: 14,119,990 (GRCm38)	D39E	probably benign	Het
Rffl	T	C	11: 82,709,244 (GRCm39)	K60E	probably damaging	Het
Rspo2	A	T	15: 42,939,283 (GRCm39)	L169Q	probably damaging	Het
Sbf1	T	A	15: 89,172,837 (GRCm39)	D1892V	probably damaging	Het
Sbno2	G	A	10: 79,902,424 (GRCm39)	S475F	possibly damaging	Het
Serpina3i	T	A	12: 104,231,474 (GRCm39)	V37E	probably benign	Het
Siglecf	G	A	7: 43,001,137 (GRCm39)	C35Y	probably damaging	Het
Slc22a27	G	T	19: 7,903,767 (GRCm39)	D123E	probably damaging	Het
Smim23	T	A	11: 32,770,592 (GRCm39)	K105*	probably null	Het
Soat1	C	T	1: 156,265,318 (GRCm39)	S348N	probably benign	Het
Sp2	C	T	11: 96,851,811 (GRCm39)		probably benign	Het
St14	T	A	9: 31,002,803 (GRCm39)	H700L	probably damaging	Het
St3gal1	T	A	15: 66,985,634 (GRCm39)	K7*	probably null	Het
Tgm1	T	C	14: 55,943,011 (GRCm39)	K610E	probably benign	Het
Tob1	T	A	11: 94,104,583 (GRCm39)	Y40N	probably damaging	Het
Tob1	T	A	11: 94,104,585 (GRCm39)	Y40*	probably null	Het
Trpc4ap	A	G	2: 155,477,130 (GRCm39)		probably benign	Het
Ttc9	C	T	12: 81,678,450 (GRCm39)	P91L	probably benign	Het
Zbtb18	T	C	1: 177,275,446 (GRCm39)	S269P	probably damaging	Het
Zfp703	C	T	8: 27,469,233 (GRCm39)	P299L	probably damaging	Het
Zfyve16	A	T	13: 92,650,410 (GRCm39)	V858E	probably 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
R4291:Nom1	UTSW	5	29,651,370 (GRCm39)	critical splice donor site	probably null
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
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'- TTCGTAAGGAGAAGCGACACC -3'
(R):5'- CTCCAAGACTGTCTGTCCAG -3'

Sequencing Primer
(F):5'- CGACACCTGAGGAAAGCGC -3'
(R):5'- ATGTAGTCCAGACCGTCGC -3'

Posted On

2016-12-20