Mutagenetix > Incidental Mutation

Incidental Mutation 'R7182:Nudc'

559037

Institutional Source

Beutler Lab

Gene Symbol

Nudc

Ensembl Gene

ENSMUSG00000028851

Gene Name

nudC nuclear distribution protein

Synonyms

NudC, Silg92

MMRRC Submission

045234-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.957) question?

Stock #

R7182 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

133259853-133273307 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 133261776 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 169 (D169E)

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: D169E

PolyPhen 2 Score 0.559 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000030665
Gene: ENSMUSG00000028851
AA Change: D169E

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: 99.6%
20x: 98.8%

Validation Efficiency

96% (70/73)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	T	C	16: 4,667,578 (GRCm39)	V323A	unknown	Het
AC117241.1	A	G	17: 7,620,087 (GRCm39)	V158A	unknown	Het
Acadm	A	G	3: 153,647,518 (GRCm39)		probably null	Het
Adcy10	T	G	1: 165,371,039 (GRCm39)		probably null	Het
Aldh6a1	C	T	12: 84,488,605 (GRCm39)	A94T	probably benign	Het
Ano2	T	A	6: 125,767,256 (GRCm39)	L229Q	probably damaging	Het
Cacna1h	C	T	17: 25,596,629 (GRCm39)	R1828H	probably damaging	Het
Ccdc33	A	T	9: 57,941,456 (GRCm39)		probably null	Het
Cep112	A	C	11: 108,573,670 (GRCm39)	D6A	probably benign	Het
Chd9	T	C	8: 91,733,250 (GRCm39)	F1373S	unknown	Het
Cog5	T	C	12: 31,735,707 (GRCm39)	L158P	probably damaging	Het
Col6a3	G	A	1: 90,731,400 (GRCm39)	Q1618*	probably null	Het
Dlg5	A	G	14: 24,294,924 (GRCm39)	V3A		Het
Dnah7a	T	A	1: 53,659,620 (GRCm39)		probably null	Het
Dpp10	A	T	1: 123,268,880 (GRCm39)	H716Q	probably benign	Het
Epor	A	G	9: 21,874,625 (GRCm39)	F35L	probably benign	Het
Ergic1	A	T	17: 26,873,856 (GRCm39)	Y92F		Het
Fam98a	G	A	17: 75,846,013 (GRCm39)	Q273*	probably null	Het
Fhdc1	G	A	3: 84,356,157 (GRCm39)	T429I	probably damaging	Het
Fmnl2	T	A	2: 52,997,453 (GRCm39)	L468Q	unknown	Het
Fmnl3	C	T	15: 99,219,663 (GRCm39)	R695Q	probably damaging	Het
Gabrg2	T	C	11: 41,811,333 (GRCm39)	M271V	probably damaging	Het
Garin4	C	T	1: 190,895,548 (GRCm39)	R365H	probably damaging	Het
Gk5	G	T	9: 96,001,579 (GRCm39)	V26L	possibly damaging	Het
Gm14412	A	C	2: 177,007,408 (GRCm39)	N162K	probably benign	Het
Gm3604	T	C	13: 62,519,689 (GRCm39)	D22G	probably damaging	Het
Gm5565	G	T	5: 146,094,865 (GRCm39)	H294N	probably benign	Het
Hsf2	T	A	10: 57,381,272 (GRCm39)	D287E	possibly damaging	Het
Ift70b	A	T	2: 75,768,293 (GRCm39)	Y153*	probably null	Het
Impdh2	G	A	9: 108,440,407 (GRCm39)	R231H	possibly damaging	Het
Irak3	T	C	10: 120,002,416 (GRCm39)	H234R	probably damaging	Het
Lrba	GTTCCCTTC	GTTC	3: 86,648,765 (GRCm39)		probably null	Het
Lrch3	T	A	16: 32,814,149 (GRCm39)	D551E	probably benign	Het
Manba	A	T	3: 135,273,274 (GRCm39)	N736I	probably benign	Het
Map2	A	G	1: 66,451,812 (GRCm39)	D234G	possibly damaging	Het
Mdk	C	A	2: 91,761,197 (GRCm39)	K121N	unknown	Het
Mfn1	T	A	3: 32,618,369 (GRCm39)	L526Q	probably damaging	Het
Mfsd2b	A	G	12: 4,916,157 (GRCm39)		probably null	Het
Mnat1	G	T	12: 73,277,452 (GRCm39)	E233*	probably null	Het
Mtmr4	T	C	11: 87,495,431 (GRCm39)		probably null	Het
Mtrf1	A	G	14: 79,660,904 (GRCm39)	E432G	possibly damaging	Het
Muc5b	C	T	7: 141,396,382 (GRCm39)	R165C	unknown	Het
Naip6	T	A	13: 100,452,657 (GRCm39)	I135F	probably benign	Het
Nod2	A	G	8: 89,390,460 (GRCm39)	T256A	probably benign	Het
Notch4	T	A	17: 34,802,473 (GRCm39)	V1298E	probably damaging	Het
Obscn	A	T	11: 58,925,927 (GRCm39)	I5602N	probably damaging	Het
Or5b114-ps1	G	A	19: 13,353,208 (GRCm39)	G294E	unknown	Het
Osbpl10	G	A	9: 114,896,319 (GRCm39)	D18N	probably damaging	Het
Pigk	G	A	3: 152,428,188 (GRCm39)	V72I	possibly damaging	Het
Prl8a6	C	T	13: 27,621,153 (GRCm39)	E26K	probably damaging	Het
Prpf8	A	G	11: 75,381,553 (GRCm39)	Y318C	possibly damaging	Het
Rab13	A	G	3: 90,132,070 (GRCm39)	D159G	possibly damaging	Het
Rgl2	T	C	17: 34,153,964 (GRCm39)	F457L	possibly damaging	Het
Ryr2	T	C	13: 11,774,643 (GRCm39)	H1171R	probably benign	Het
Scn4a	T	A	11: 106,221,134 (GRCm39)	I842F	probably benign	Het
Scnm1	A	T	3: 95,041,165 (GRCm39)	N14K	possibly damaging	Het
Serinc1	A	T	10: 57,400,457 (GRCm39)	I137N	probably benign	Het
Slc30a3	T	C	5: 31,244,169 (GRCm39)	Q371R	probably benign	Het
Slc30a3	A	C	5: 31,247,014 (GRCm39)	M103R	probably damaging	Het
Slco1a1	A	T	6: 141,857,565 (GRCm39)	C589S	probably damaging	Het
Slco1b2	A	G	6: 141,602,656 (GRCm39)	Y203C	probably damaging	Het
Spty2d1	A	T	7: 46,648,271 (GRCm39)	D219E	probably benign	Het
Svep1	A	T	4: 58,043,991 (GRCm39)	S3552T	probably benign	Het
Tmem62	A	G	2: 120,835,224 (GRCm39)	I516M	probably benign	Het
Trim61	A	T	8: 65,466,266 (GRCm39)	S332T	probably damaging	Het
Trmt10b	A	C	4: 45,308,520 (GRCm39)	T227P	probably benign	Het
Trpc3	T	C	3: 36,709,258 (GRCm39)	Q406R	probably benign	Het
Ush2a	A	T	1: 188,485,740 (GRCm39)	Y2950F	probably benign	Het
Usp32	C	T	11: 84,930,996 (GRCm39)	G478D	probably benign	Het
Wdfy3	A	G	5: 102,091,758 (GRCm39)	L527P	possibly damaging	Het
Wdr73	A	G	7: 80,543,426 (GRCm39)	V163A	possibly damaging	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
R7463:Nudc	UTSW	4	133,261,714 (GRCm39)	missense	possibly damaging	0.90
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'- CCTCCACCTTGACTTCATTGTAGAG -3'
(R):5'- ACCTTTAGTTCCCAGTGGCC -3'

Sequencing Primer
(F):5'- GTAGAGTTCTCCATCAACCACTGG -3'
(R):5'- ATTTGTAGGCCTGCCATGC -3'

Posted On

2019-06-26