Mutagenetix > Incidental Mutation

Incidental Mutation 'R4547:Nup42'

333814

Institutional Source

Beutler Lab

Gene Symbol

Nup42

Ensembl Gene

ENSMUSG00000048439

Gene Name

nucleoporin 42

Synonyms

Nupl2, CG1

MMRRC Submission

041781-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.892) question?

Stock #

R4547 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

24369961-24389011 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

T to C at 24382968 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000110753 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049887] [ENSMUST00000115101]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000049887

SMART Domains

Protein: ENSMUSP00000062766
Gene: ENSMUSG00000048439

Domain	Start	End	E-Value	Type
Blast:ZnF_C3H1	1	22	2e-10	BLAST
low complexity region	23	41	N/A	INTRINSIC
coiled coil region	174	195	N/A	INTRINSIC
low complexity region	266	287	N/A	INTRINSIC
low complexity region	305	322	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000115101

SMART Domains

Protein: ENSMUSP00000110753
Gene: ENSMUSG00000048439

Domain	Start	End	E-Value	Type
Blast:ZnF_C3H1	1	22	3e-9	BLAST
low complexity region	23	41	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124150

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

Validation Efficiency

96% (55/57)

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acin1	G	T	14: 54,883,124 (GRCm39)	A909E	probably benign	Het
Ankrd13a	A	G	5: 114,913,357 (GRCm39)	E23G	probably benign	Het
Ano4	T	C	10: 88,817,032 (GRCm39)	R148G	probably null	Het
Arl6ip1	AAAATAAATAAATAAATAAATAAATA	AAAATAAATAAATAAATAAATAAATAAATA	7: 117,721,122 (GRCm39)		probably benign	Het
Aspm	T	C	1: 139,405,925 (GRCm39)	V1604A	possibly damaging	Het
Cdh1	C	A	8: 107,390,535 (GRCm39)	T625K	probably damaging	Het
Cfap65	G	A	1: 74,946,771 (GRCm39)	T1313I	probably damaging	Het
Cfhr3	T	G	1: 139,512,651 (GRCm39)		noncoding transcript	Het
Csmd1	T	C	8: 16,441,811 (GRCm39)	D351G	possibly damaging	Het
Dis3l2	A	T	1: 86,977,393 (GRCm39)	T861S	probably benign	Het
Dnah6	A	T	6: 73,169,388 (GRCm39)	D404E	probably benign	Het
Dpm1	A	G	2: 168,065,073 (GRCm39)	L88P	probably damaging	Het
Fabp3	C	T	4: 130,206,245 (GRCm39)		probably null	Het
Fat4	T	C	3: 39,005,432 (GRCm39)	F1944L	probably damaging	Het
Frmd4a	C	A	2: 4,477,956 (GRCm39)	L46I	probably damaging	Het
Gpr39	G	A	1: 125,605,728 (GRCm39)	V219I	probably benign	Het
Hace1	T	A	10: 45,548,651 (GRCm39)		probably null	Het
Kdm1b	C	T	13: 47,216,553 (GRCm39)	R308W	probably damaging	Het
Klb	T	A	5: 65,537,271 (GRCm39)	V867E	probably benign	Het
Lnpk	C	G	2: 74,352,630 (GRCm39)	E351Q	probably benign	Het
Mettl25	T	C	10: 105,661,878 (GRCm39)	D364G	probably damaging	Het
Mrc2	G	A	11: 105,227,467 (GRCm39)	V567I	probably benign	Het
Mrm2	T	C	5: 140,314,251 (GRCm39)	T195A	probably benign	Het
Naaa	C	T	5: 92,411,445 (GRCm39)		probably null	Het
Ncdn	A	G	4: 126,640,467 (GRCm39)	F542S	probably damaging	Het
Nlrp4e	A	G	7: 23,036,291 (GRCm39)	N715D	probably benign	Het
Or10ag57	G	A	2: 87,218,504 (GRCm39)	V152I	probably benign	Het
Or2t6	A	T	14: 14,175,854 (GRCm38)	I76N	probably damaging	Het
Psg25	A	G	7: 18,258,629 (GRCm39)	L349P	probably damaging	Het
Rnf213	G	T	11: 119,370,496 (GRCm39)		probably null	Het
Scara5	A	C	14: 65,908,023 (GRCm39)	K4N	possibly damaging	Het
Slc35f5	T	C	1: 125,500,119 (GRCm39)	L211S	probably benign	Het
Slc44a4	T	A	17: 35,146,731 (GRCm39)	F285I	probably damaging	Het
Slc8a3	A	G	12: 81,361,625 (GRCm39)	V398A	possibly damaging	Het
Smc2	T	C	4: 52,467,866 (GRCm39)	S737P	probably benign	Het
Speer2	T	C	16: 69,655,737 (GRCm39)	K30E	probably damaging	Het
Synj1	T	C	16: 90,785,170 (GRCm39)	I229V	possibly damaging	Het
Tac1	A	G	6: 7,557,216 (GRCm39)	D74G	probably damaging	Het
Tbc1d17	A	G	7: 44,490,771 (GRCm39)	V607A	probably benign	Het
Tmem132a	A	G	19: 10,837,564 (GRCm39)	V582A	possibly damaging	Het
Traf4	A	G	11: 78,051,863 (GRCm39)	I207T	possibly damaging	Het
Trio	T	C	15: 27,819,068 (GRCm39)	R449G	possibly damaging	Het
Ubn1	G	A	16: 4,889,956 (GRCm39)	R407H	probably damaging	Het
Vmn1r19	C	T	6: 57,381,774 (GRCm39)	T109I	possibly damaging	Het
Vmn2r60	A	G	7: 41,785,087 (GRCm39)	T100A	probably null	Het
Vsig8	A	T	1: 172,388,163 (GRCm39)	M44L	probably benign	Het
Zbed5	T	A	5: 129,931,692 (GRCm39)	L547*	probably null	Het

Other mutations in Nup42

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00684:Nup42	APN	5	24,387,041 (GRCm39)	missense	possibly damaging	0.92
IGL01992:Nup42	APN	5	24,386,101 (GRCm39)	missense	probably benign	0.01
IGL02638:Nup42	APN	5	24,380,505 (GRCm39)	missense	probably benign	0.03
IGL03197:Nup42	APN	5	24,372,463 (GRCm39)	missense	probably damaging	0.98
R1484:Nup42	UTSW	5	24,383,075 (GRCm39)	missense	probably benign	0.08
R2004:Nup42	UTSW	5	24,386,989 (GRCm39)	nonsense	probably null
R3617:Nup42	UTSW	5	24,387,325 (GRCm39)	missense	probably benign	0.04
R4004:Nup42	UTSW	5	24,387,434 (GRCm39)	missense	probably damaging	0.96
R4669:Nup42	UTSW	5	24,387,415 (GRCm39)	missense	probably benign	0.21
R5974:Nup42	UTSW	5	24,372,400 (GRCm39)	missense	probably damaging	1.00
R6189:Nup42	UTSW	5	24,380,452 (GRCm39)	missense	probably damaging	1.00
R6315:Nup42	UTSW	5	24,372,502 (GRCm39)	missense	probably damaging	0.97
R6914:Nup42	UTSW	5	24,386,082 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GCTGGGTGCCTGAAGGAA -3'
(R):5'- AGACTTTACTTTGCCCTTCAAGTT -3'

Sequencing Primer
(F):5'- CTGGGTGCCTGAAGGAAATAATTTC -3'
(R):5'- CATCAGGTACATACTTGGTGCACAG -3'

Posted On

2015-08-18