Mutagenetix > Incidental Mutation

Incidental Mutation 'R3617:Nup42'

268467

Institutional Source

Beutler Lab

Gene Symbol

Nup42

Ensembl Gene

ENSMUSG00000048439

Gene Name

nucleoporin 42

Synonyms

Nupl2, CG1

MMRRC Submission

040674-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.892) question?

Stock #

R3617 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

24369961-24389011 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 24387325 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 372 (S372P)

Ref Sequence

ENSEMBL: ENSMUSP00000062766 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000049887
AA Change: S372P

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000062766
Gene: ENSMUSG00000048439
AA Change: S372P

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

0.1301

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.4%

Validation Efficiency

98% (41/42)

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	A	G	6: 142,625,015 (GRCm39)	V460A	probably damaging	Het
Aplf	T	C	6: 87,648,865 (GRCm39)	I25V	possibly damaging	Het
Ascc3	A	G	10: 50,494,281 (GRCm39)	T239A	probably benign	Het
Bahd1	G	A	2: 118,753,004 (GRCm39)	R757H	probably damaging	Het
Cbfa2t2	A	T	2: 154,278,904 (GRCm39)		probably benign	Het
Ccdc168	T	C	1: 44,100,114 (GRCm39)	D328G	probably benign	Het
Cdkn1c	C	T	7: 143,013,531 (GRCm39)		probably benign	Het
Cfap46	A	G	7: 139,219,515 (GRCm39)	S1317P	probably benign	Het
Cntln	C	T	4: 84,923,214 (GRCm39)	Q560*	probably null	Het
Cntn2	G	C	1: 132,456,361 (GRCm39)	A161G	probably benign	Het
Crybg1	A	G	10: 43,832,782 (GRCm39)	I1991T	possibly damaging	Het
Cttnbp2	T	C	6: 18,414,189 (GRCm39)	E952G	probably damaging	Het
Dhx36	T	C	3: 62,379,428 (GRCm39)	T887A	possibly damaging	Het
Dhx36	A	G	3: 62,394,481 (GRCm39)	F512L	probably benign	Het
Fthl17f	A	G	X: 8,929,862 (GRCm39)	T153A	probably benign	Het
Gad1-ps	T	A	10: 99,281,260 (GRCm39)		noncoding transcript	Het
Gba2	C	T	4: 43,573,803 (GRCm39)	R163H	probably damaging	Het
Gm10717	A	G	9: 3,025,532 (GRCm39)	Y39C	probably benign	Het
Gm17019	A	T	5: 15,081,081 (GRCm39)	M120K	possibly damaging	Het
Helz2	C	T	2: 180,874,854 (GRCm39)	R1880H	probably damaging	Het
Ifi204	T	C	1: 173,583,283 (GRCm39)	I312V	possibly damaging	Het
Kncn	T	C	4: 115,743,089 (GRCm39)	F55L	probably benign	Het
Kndc1	G	A	7: 139,481,976 (GRCm39)		probably benign	Het
Nat8f3	C	A	6: 85,738,670 (GRCm39)	A31S	probably benign	Het
Ndst4	T	C	3: 125,231,782 (GRCm39)	I117T	probably benign	Het
Ndufa9	G	T	6: 126,826,071 (GRCm39)		probably benign	Het
Pde6a	A	G	18: 61,364,575 (GRCm39)		probably benign	Het
Pigw	T	C	11: 84,769,133 (GRCm39)	I65M	probably damaging	Het
Pip	A	G	6: 41,828,871 (GRCm39)	T139A	probably benign	Het
Rel	A	T	11: 23,695,780 (GRCm39)	D202E	probably damaging	Het
Rhot2	A	G	17: 26,059,955 (GRCm39)		probably benign	Het
Sh3rf3	G	A	10: 58,922,685 (GRCm39)	R587Q	possibly damaging	Het
Sim1	T	A	10: 50,785,624 (GRCm39)	M231K	probably damaging	Het
Slc12a9	G	A	5: 137,330,759 (GRCm39)	T47M	probably damaging	Het
Slc4a4	A	G	5: 89,382,663 (GRCm39)	D1036G	probably benign	Het
Tas2r143	A	T	6: 42,377,997 (GRCm39)	I276F	probably benign	Het
Tgfbr3	A	T	5: 107,288,485 (GRCm39)	F392Y	possibly damaging	Het
Tmem266	T	C	9: 55,307,918 (GRCm39)	V148A	probably damaging	Het
Ubiad1	A	G	4: 148,520,817 (GRCm39)	I269T	probably benign	Het
Vwc2l	A	G	1: 70,768,041 (GRCm39)		probably null	Het
Zbtb49	G	A	5: 38,357,975 (GRCm39)		probably benign	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
R4004:Nup42	UTSW	5	24,387,434 (GRCm39)	missense	probably damaging	0.96
R4547:Nup42	UTSW	5	24,382,968 (GRCm39)	intron	probably benign
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'- GGTTCCAGTTTTGCATCACC -3'
(R):5'- AGACTGTAGGCATGCAGGAC -3'

Sequencing Primer
(F):5'- CATCACCTGGGTTTTCGGGATTTC -3'
(R):5'- CCTGGCTAAGGCATTCTTTCTG -3'

Posted On

2015-02-19