Mutagenetix > Incidental Mutation

Incidental Mutation 'R5974:Nup42'

471607

Institutional Source

Beutler Lab

Gene Symbol

Nup42

Ensembl Gene

ENSMUSG00000048439

Gene Name

nucleoporin 42

Synonyms

Nupl2, CG1

MMRRC Submission

044157-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.907) question?

Stock #

R5974 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

24369961-24389011 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 24372400 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 63 (S63P)

Ref Sequence

ENSEMBL: ENSMUSP00000110753 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000049887
AA Change: S63P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000062766
Gene: ENSMUSG00000048439
AA Change: S63P

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 damaging
Transcript: ENSMUST00000115101
AA Change: S63P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000110753
Gene: ENSMUSG00000048439
AA Change: S63P

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: ENSMUST00000147392

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afg3l2	G	T	18: 67,554,329 (GRCm39)	L458M	probably damaging	Het
Anapc4	T	C	5: 53,002,742 (GRCm39)	L261P	probably damaging	Het
Aqp6	A	G	15: 99,499,317 (GRCm39)	Y10C	probably benign	Het
Ccnb1ip1	A	T	14: 51,029,662 (GRCm39)	N133K	probably benign	Het
Clip4	A	T	17: 72,138,242 (GRCm39)	H433L	probably damaging	Het
Cntnap5c	T	A	17: 58,183,480 (GRCm39)	M62K	probably benign	Het
Col12a1	A	G	9: 79,589,409 (GRCm39)	S1049P	probably damaging	Het
Col15a1	C	T	4: 47,258,683 (GRCm39)	T358I	probably benign	Het
Coro7	A	T	16: 4,449,753 (GRCm39)	D645E	possibly damaging	Het
Ctnnal1	C	A	4: 56,817,067 (GRCm39)	W585L	probably damaging	Het
Ctnnd1	C	A	2: 84,451,259 (GRCm39)	E114*	probably null	Het
Daam2	T	A	17: 49,771,501 (GRCm39)	S882C	probably damaging	Het
Des	T	A	1: 75,339,628 (GRCm39)	S329T	probably benign	Het
Dido1	T	C	2: 180,313,290 (GRCm39)	D994G	probably benign	Het
Dock3	A	G	9: 106,871,261 (GRCm39)	V547A	probably damaging	Het
Ebf4	G	A	2: 130,207,484 (GRCm39)	A643T	probably damaging	Het
Ect2	C	A	3: 27,199,112 (GRCm39)	E194*	probably null	Het
Epb41l2	A	G	10: 25,317,713 (GRCm39)	I77V	possibly damaging	Het
Fat3	A	T	9: 15,917,824 (GRCm39)		probably null	Het
Fbn2	T	G	18: 58,181,992 (GRCm39)	D1803A	probably damaging	Het
Fbxo10	T	C	4: 45,040,631 (GRCm39)	E858G	probably benign	Het
Fbxo24	C	T	5: 137,617,912 (GRCm39)	R284Q	probably benign	Het
Fsip2	T	A	2: 82,793,657 (GRCm39)	I425N	possibly damaging	Het
Fut9	A	C	4: 25,620,090 (GRCm39)	Y241*	probably null	Het
Galr2	A	G	11: 116,173,852 (GRCm39)	S161G	possibly damaging	Het
Gcc2	T	A	10: 58,094,065 (GRCm39)	L14I	probably damaging	Het
H2-T15	A	T	17: 36,367,677 (GRCm39)	D220E	probably benign	Het
Hdac11	G	A	6: 91,150,196 (GRCm39)	V332I	probably benign	Het
Hdac7	T	C	15: 97,699,953 (GRCm39)		probably null	Het
Kif16b	C	T	2: 142,699,301 (GRCm39)	G93D	probably damaging	Het
Krtap11-1	C	A	16: 89,367,656 (GRCm39)	C121F	possibly damaging	Het
Lacc1	T	C	14: 77,272,517 (GRCm39)	Q93R	probably damaging	Het
Lama1	T	C	17: 68,080,722 (GRCm39)	F1250S	probably benign	Het
Lmbrd2	A	G	15: 9,172,202 (GRCm39)	E332G	probably benign	Het
Lrp2	C	A	2: 69,289,892 (GRCm39)	C3649F	probably damaging	Het
Map1a	T	C	2: 121,134,857 (GRCm39)	V1653A	probably benign	Het
Mrpl1	T	C	5: 96,379,653 (GRCm39)		probably null	Het
Myo1b	A	G	1: 51,817,532 (GRCm39)	S577P	probably damaging	Het
Nedd4	T	A	9: 72,650,920 (GRCm39)		probably null	Het
Negr1	T	A	3: 156,774,923 (GRCm39)	V213E	probably damaging	Het
Nlk	T	G	11: 78,481,792 (GRCm39)	Q223P	probably benign	Het
Ntn5	A	G	7: 45,340,848 (GRCm39)	H162R	probably damaging	Het
Obscn	C	A	11: 58,967,373 (GRCm39)	D477Y	probably damaging	Het
Or12d12	A	T	17: 37,611,229 (GRCm39)	I28N	possibly damaging	Het
Or5an1	T	C	19: 12,261,200 (GRCm39)	S263P	probably damaging	Het
Or8u10	T	C	2: 85,915,225 (GRCm39)	S299G	probably benign	Het
Pabpn1	A	G	14: 55,134,617 (GRCm39)	T280A	probably damaging	Het
Per3	A	T	4: 151,127,194 (GRCm39)	V109E	possibly damaging	Het
Pira2	A	C	7: 3,844,576 (GRCm39)	V485G	probably benign	Het
Pknox2	A	G	9: 36,847,618 (GRCm39)	L133P	probably damaging	Het
Pros1	A	C	16: 62,721,030 (GRCm39)	N195T	probably damaging	Het
Rffl	T	C	11: 82,696,977 (GRCm39)	K289E	probably damaging	Het
Ripk1	T	A	13: 34,214,084 (GRCm39)	Y475*	probably null	Het
Ryr2	A	G	13: 11,729,397 (GRCm39)		probably null	Het
Sgk1	T	A	10: 21,872,148 (GRCm39)	N241K	probably damaging	Het
Skint1	T	A	4: 111,876,516 (GRCm39)	S146T	probably benign	Het
Sox30	G	T	11: 45,871,900 (GRCm39)	D252Y	probably damaging	Het
Syngap1	A	G	17: 27,182,012 (GRCm39)	Y1002C	probably damaging	Het
Tiam2	A	G	17: 3,465,084 (GRCm39)	D271G	possibly damaging	Het
Ticam1	T	C	17: 56,578,178 (GRCm39)	T306A	probably benign	Het
Tmem252	A	G	19: 24,651,632 (GRCm39)	E67G	probably benign	Het
Tnxb	T	G	17: 34,904,681 (GRCm39)	F1149V	probably damaging	Het
Ubr4	A	G	4: 139,148,389 (GRCm39)		probably null	Het
Unc50	A	G	1: 37,476,290 (GRCm39)	D150G	probably benign	Het
Ywhag	A	C	5: 135,940,483 (GRCm39)	L37R	probably damaging	Het
Zfp296	T	C	7: 19,311,862 (GRCm39)	L123P	probably benign	Het
Zfp418	G	T	7: 7,185,199 (GRCm39)	Q387H	possibly damaging	Het
Zfp882	T	C	8: 72,666,999 (GRCm39)	F53L	probably damaging	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
R4547:Nup42	UTSW	5	24,382,968 (GRCm39)	intron	probably benign
R4669:Nup42	UTSW	5	24,387,415 (GRCm39)	missense	probably benign	0.21
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'- GGCTTAACACTGAACTCACCG -3'
(R):5'- GCTTCTGGAAAAGCTAAGCAATTG -3'

Sequencing Primer
(F):5'- TCTGACTGACCTGGAACTTAGAGAC -3'
(R):5'- CTGGAAAAGCTAAGCAATTGATTTTC -3'

Posted On

2017-03-31