Mutagenetix > Incidental Mutation

Incidental Mutation 'R7463:Nudc'

578549

Institutional Source

Beutler Lab

Gene Symbol

Nudc

Ensembl Gene

ENSMUSG00000028851

Gene Name

nudC nuclear distribution protein

Synonyms

NudC, Silg92

MMRRC Submission

045537-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.960) question?

Stock #

R7463 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

133259853-133273307 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 133261714 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 190 (V190G)

Ref Sequence

ENSEMBL: ENSMUSP00000030665 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030665] [ENSMUST00000042919] [ENSMUST00000105901] [ENSMUST00000121797]

AlphaFold

O35685

PDB Structure

Nuclear move domain of nuclear distribution gene C homolog [SOLUTION NMR]
Solution structure of nuclear move domain of nuclear distribution gene C [SOLUTION NMR]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000030665
AA Change: V190G

PolyPhen 2 Score 0.902 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000030665
Gene: ENSMUSG00000028851
AA Change: V190G

Domain	Start	End	E-Value	Type
Pfam:Nudc_N	9	60	3.7e-16	PFAM
Pfam:NuDC	96	157	9.5e-23	PFAM
Pfam:CS	171	248	3.1e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000042919

SMART Domains

Protein: ENSMUSP00000048768
Gene: ENSMUSG00000037600

Domain	Start	End	E-Value	Type
low complexity region	2	18	N/A	INTRINSIC
Pfam:DUF4656	34	397	5.4e-182	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000105901

SMART Domains

Protein: ENSMUSP00000101521
Gene: ENSMUSG00000037600

Domain	Start	End	E-Value	Type
low complexity region	2	18	N/A	INTRINSIC
Pfam:DUF4656	29	397	4e-216	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000121797

SMART Domains

Protein: ENSMUSP00000113590
Gene: ENSMUSG00000037600

Domain	Start	End	E-Value	Type
low complexity region	2	18	N/A	INTRINSIC
Pfam:DUF4656	29	375	1.4e-199	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.7%

Validation Efficiency

100% (62/62)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nuclear distribution protein that plays an essential role in mitosis and cytokinesis. The encoded protein is involved in spindle formation during mitosis and in microtubule organization during cytokinesis. Pseudogenes of this gene are found on chromosome 2. [provided by RefSeq, Feb 2012]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc10	A	T	17: 46,634,698 (GRCm39)	V435E	probably damaging	Het
Acta2	G	A	19: 34,229,931 (GRCm39)	T8I	probably benign	Het
Adcy2	T	C	13: 68,878,399 (GRCm39)	D413G	probably damaging	Het
Adgrg6	T	A	10: 14,310,140 (GRCm39)	D727V	possibly damaging	Het
Aebp2	C	T	6: 140,583,452 (GRCm39)	Q309*	probably null	Het
Amy1	A	T	3: 113,363,533 (GRCm39)	C43*	probably null	Het
Bpifc	T	C	10: 85,815,198 (GRCm39)	E256G	probably benign	Het
Bysl	A	T	17: 47,913,396 (GRCm39)	S296T	probably benign	Het
Carmil3	C	T	14: 55,739,853 (GRCm39)	P980L	probably damaging	Het
Coch	T	A	12: 51,640,408 (GRCm39)	M1K	probably null	Het
Cpt2	A	T	4: 107,765,354 (GRCm39)	F137I	probably damaging	Het
Crem	T	C	18: 3,295,094 (GRCm39)	I112V	probably benign	Het
Cul9	A	G	17: 46,831,402 (GRCm39)		probably null	Het
Cyp3a41a	T	A	5: 145,650,374 (GRCm39)	I90F	probably damaging	Het
Cyp4f16	C	T	17: 32,769,761 (GRCm39)	A457V	possibly damaging	Het
Ddx6	A	G	9: 44,540,026 (GRCm39)	E318G	probably damaging	Het
Dip2b	A	G	15: 100,052,038 (GRCm39)	E213G	probably benign	Het
Dlx5	T	C	6: 6,878,316 (GRCm39)	H238R	probably damaging	Het
Dnai2	A	C	11: 114,645,232 (GRCm39)	I556L	probably benign	Het
Dnmt1	C	T	9: 20,823,521 (GRCm39)	V1147M	possibly damaging	Het
Egf	G	T	3: 129,533,664 (GRCm39)	Q59K	probably benign	Het
Ermp1	A	T	19: 29,623,662 (GRCm39)	Y109*	probably null	Het
Fer1l6	T	A	15: 58,445,450 (GRCm39)	Y573*	probably null	Het
Fmnl1	T	C	11: 103,083,954 (GRCm39)	L503P	probably damaging	Het
Gnptab	T	G	10: 88,267,251 (GRCm39)	I447M	probably damaging	Het
Hgf	G	A	5: 16,783,448 (GRCm39)	D253N	probably benign	Het
Hjurp	CTCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCT	C	1: 88,193,999 (GRCm39)		probably benign	Het
Igf2r	T	C	17: 12,929,532 (GRCm39)	T958A	probably benign	Het
Kcnd2	T	A	6: 21,216,497 (GRCm39)	L67Q	probably damaging	Het
Kif5a	A	G	10: 127,079,593 (GRCm39)	V248A	probably damaging	Het
Krt33b	A	G	11: 99,920,389 (GRCm39)	I88T	probably damaging	Het
Lhx2	G	A	2: 38,241,858 (GRCm39)	E25K	possibly damaging	Het
Mex3d	C	T	10: 80,217,532 (GRCm39)	G562R		Het
Myom2	A	T	8: 15,167,679 (GRCm39)	Y1088F	probably null	Het
Ncapg	T	A	5: 45,851,434 (GRCm39)		probably null	Het
Obscn	G	T	11: 59,013,686 (GRCm39)	R1054S	probably benign	Het
Or10g1	A	G	14: 52,648,168 (GRCm39)	W54R	probably benign	Het
Or10g9	A	G	9: 39,911,860 (GRCm39)	V221A	probably benign	Het
Or2d4	A	T	7: 106,543,380 (GRCm39)	V276E	probably damaging	Het
Or52h9	T	C	7: 104,202,689 (GRCm39)	S188P	possibly damaging	Het
Or56a5	T	A	7: 104,793,144 (GRCm39)	M119L	probably benign	Het
Or8j3	T	C	2: 86,028,182 (GRCm39)	M305V	probably benign	Het
Pcdh10	A	T	3: 45,338,007 (GRCm39)	R891S	possibly damaging	Het
Pcdh15	C	T	10: 74,467,602 (GRCm39)	S1873L	possibly damaging	Het
Pcdh7	A	G	5: 57,878,340 (GRCm39)	K632E	probably benign	Het
Pcdhgb8	G	A	18: 37,896,480 (GRCm39)	A517T	probably damaging	Het
Ptgr2	A	T	12: 84,339,072 (GRCm39)		probably benign	Het
Ptpn18	G	A	1: 34,512,445 (GRCm39)	D417N	possibly damaging	Het
Racgap1	T	A	15: 99,540,839 (GRCm39)	T4S	probably benign	Het
Rb1cc1	A	G	1: 6,319,404 (GRCm39)	H941R	probably benign	Het
Reln	T	C	5: 22,308,433 (GRCm39)	H312R	probably damaging	Het
Rnf166	T	A	8: 123,194,726 (GRCm39)	H208L	probably damaging	Het
Spmap2	T	C	10: 79,412,549 (GRCm39)	E314G	probably damaging	Het
Timeless	T	C	10: 128,086,295 (GRCm39)	S999P	probably benign	Het
Tmem94	G	T	11: 115,677,082 (GRCm39)	R118L	possibly damaging	Het
Tor1aip1	A	T	1: 155,883,355 (GRCm39)	H349Q	possibly damaging	Het
Ttn	T	A	2: 76,750,804 (GRCm39)	E3415V	probably benign	Het
Vmn2r102	A	T	17: 19,896,886 (GRCm39)	N78Y	probably damaging	Het
Wdr11	A	T	7: 129,208,810 (GRCm39)	D427V	probably damaging	Het
Zer1	A	T	2: 30,003,449 (GRCm39)		probably benign	Het
Zfp516	T	A	18: 82,975,233 (GRCm39)	M477K	probably benign	Het

Other mutations in Nudc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R3427:Nudc	UTSW	4	133,261,568 (GRCm39)	missense	probably benign	0.00
R4719:Nudc	UTSW	4	133,260,576 (GRCm39)	missense	probably damaging	0.99
R4852:Nudc	UTSW	4	133,261,660 (GRCm39)	missense	probably damaging	1.00
R7182:Nudc	UTSW	4	133,261,776 (GRCm39)	missense	possibly damaging	0.56
R9166:Nudc	UTSW	4	133,273,165 (GRCm39)	missense	probably damaging	0.99
R9558:Nudc	UTSW	4	133,260,776 (GRCm39)	missense	probably benign	0.05
R9576:Nudc	UTSW	4	133,262,989 (GRCm39)	missense	probably benign	0.23

Predicted Primers

PCR Primer
(F):5'- GATGCACTGTCACCACCTTG -3'
(R):5'- GATTTGTAGGCCTGCCATGC -3'

Sequencing Primer
(F):5'- ACCTTGCCATCCTCGATGAG -3'
(R):5'- AAGTCCCGTCTGTCAGGTAAGTC -3'

Posted On

2019-10-07