Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01983:Nus1'

183517

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nus1

Ensembl Gene

ENSMUSG00000023068

Gene Name

NUS1 dehydrodolichyl diphosphate synthase subunit

Synonyms

NgBR, D10Ertd438e, 1600027K07Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01983

Quality Score

Status

Chromosome

Chromosomal Location

52293643-52316279 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 52312753 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 295 (L295Q)

Ref Sequence

ENSEMBL: ENSMUSP00000023830 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023830]

AlphaFold

Q99LJ8

Predicted Effect

probably damaging
Transcript: ENSMUST00000023830
AA Change: L295Q

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000023830
Gene: ENSMUSG00000023068
AA Change: L295Q

Domain	Start	End	E-Value	Type
low complexity region	12	26	N/A	INTRINSIC
low complexity region	63	88	N/A	INTRINSIC
Pfam:Prenyltransf	105	296	2.7e-9	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218983

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele die prior to E6.5. MEFs homozygous for a conditionally activated knock-out allele exhibit impaired glycosylation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadl	G	A	1: 66,880,783 (GRCm39)	Q328*	probably null	Het
Alpk2	T	C	18: 65,483,753 (GRCm39)	Y85C	probably damaging	Het
Arhgap31	C	T	16: 38,422,127 (GRCm39)	R1313Q	probably damaging	Het
Chrnb1	G	T	11: 69,686,555 (GRCm39)	R22S	probably benign	Het
Clec7a	G	A	6: 129,442,539 (GRCm39)		probably benign	Het
Cyrib	A	G	15: 63,809,236 (GRCm39)	S251P	probably benign	Het
Epb41l5	A	G	1: 119,506,814 (GRCm39)		probably benign	Het
Hdac1-ps	T	A	17: 78,800,282 (GRCm39)	D424E	probably benign	Het
Hydin	A	C	8: 111,241,527 (GRCm39)	I2106L	probably benign	Het
Igkv3-5	T	A	6: 70,640,670 (GRCm39)	D50E	probably benign	Het
Irf2bp1	G	T	7: 18,739,220 (GRCm39)	A287S	possibly damaging	Het
Ldb3	G	A	14: 34,299,156 (GRCm39)	S156L	probably benign	Het
Lnpep	A	T	17: 17,751,440 (GRCm39)	W942R	probably damaging	Het
Mst1r	T	A	9: 107,794,475 (GRCm39)	V1218D	probably damaging	Het
Naxd	G	T	8: 11,560,218 (GRCm39)		probably benign	Het
Nol9	T	C	4: 152,130,494 (GRCm39)		probably null	Het
Nxph2	A	G	2: 23,289,946 (GRCm39)	I99M	probably benign	Het
Plekhg1	T	A	10: 3,895,904 (GRCm39)	I432N	probably damaging	Het
Pon3	A	G	6: 5,240,974 (GRCm39)	L69S	probably damaging	Het
Pram1	C	A	17: 33,859,835 (GRCm39)	A134D	probably damaging	Het
Serpinb6c	T	A	13: 34,081,317 (GRCm39)		probably benign	Het
Stk10	A	T	11: 32,539,460 (GRCm39)	E280V	probably benign	Het
Tbc1d10c	T	A	19: 4,240,708 (GRCm39)	Q34L	possibly damaging	Het
Tnr	G	A	1: 159,691,349 (GRCm39)	V500I	probably benign	Het
Trim66	G	A	7: 109,057,458 (GRCm39)	R992*	probably null	Het
Unc45b	A	G	11: 82,827,687 (GRCm39)	D728G	probably benign	Het
Usp13	A	G	3: 32,971,608 (GRCm39)	D696G	probably damaging	Het
Utrn	C	T	10: 12,545,525 (GRCm39)	V1707I	probably benign	Het
Vmn2r96	A	T	17: 18,817,527 (GRCm39)	H368L	probably damaging	Het
Xrn1	T	C	9: 95,855,421 (GRCm39)		probably null	Het
Zfhx3	C	A	8: 109,673,866 (GRCm39)	L1639M	probably damaging	Het
Znfx1	A	T	2: 166,898,270 (GRCm39)	V218E	probably damaging	Het

Other mutations in Nus1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01898:Nus1	APN	10	52,306,163 (GRCm39)	missense	probably benign
IGL02195:Nus1	APN	10	52,309,465 (GRCm39)	missense	probably damaging	1.00
R0173:Nus1	UTSW	10	52,294,094 (GRCm39)	missense	possibly damaging	0.53
R0455:Nus1	UTSW	10	52,306,190 (GRCm39)	missense	probably damaging	1.00
R5377:Nus1	UTSW	10	52,305,309 (GRCm39)	missense	possibly damaging	0.73
R5792:Nus1	UTSW	10	52,305,352 (GRCm39)	nonsense	probably null
R6009:Nus1	UTSW	10	52,309,539 (GRCm39)	missense	probably benign
R8147:Nus1	UTSW	10	52,305,416 (GRCm39)	critical splice donor site	probably null
R9100:Nus1	UTSW	10	52,305,287 (GRCm39)	critical splice acceptor site	probably null
R9477:Nus1	UTSW	10	52,294,001 (GRCm39)	missense	possibly damaging	0.79
R9654:Nus1	UTSW	10	52,294,130 (GRCm39)	missense	possibly damaging	0.96

Posted On

2014-05-07