Mutagenetix > Incidental Mutation

Incidental Mutation 'R4830:Nedd1'

372748

Institutional Source

Beutler Lab

Gene Symbol

Nedd1

Ensembl Gene

ENSMUSG00000019988

Gene Name

neural precursor cell expressed, developmentally down-regulated gene 1

Synonyms

MMRRC Submission

042446-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.962) question?

Stock #

R4830 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

92684746-92722420 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 92686258 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 639 (N639I)

Ref Sequence

ENSEMBL: ENSMUSP00000020163 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020163]

AlphaFold

P33215

Predicted Effect

probably damaging
Transcript: ENSMUST00000020163
AA Change: N639I

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

SMART Domains

Protein: ENSMUSP00000020163
Gene: ENSMUSG00000019988
AA Change: N639I

Domain	Start	End	E-Value	Type
WD40	21	63	5.97e-1	SMART
WD40	67	105	9.75e-3	SMART
WD40	108	147	6.19e-5	SMART
WD40	149	191	6.42e-1	SMART
WD40	194	235	9.1e-3	SMART
WD40	238	276	2.24e-2	SMART
low complexity region	555	568	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000157787

Meta Mutation Damage Score

0.1857

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.5%

Validation Efficiency

97% (71/73)

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd3	C	A	3: 121,760,284	G643V	probably damaging	Het
Adamtsl1	A	G	4: 86,356,382	E1225G	probably damaging	Het
Agbl5	G	A	5: 30,890,715	R111H	probably damaging	Het
Ankle2	A	C	5: 110,242,013	K446Q	probably damaging	Het
Boc	A	C	16: 44,490,157	M800R	probably damaging	Het
Ccnt1	A	T	15: 98,543,451	N645K	probably damaging	Het
Cd93	G	A	2: 148,443,379	Q16*	probably null	Het
Cpsf4l	G	T	11: 113,709,502		probably benign	Het
Cuzd1	T	A	7: 131,318,054	D111V	probably damaging	Het
Dab2	T	C	15: 6,427,527	C232R	probably benign	Het
Dmpk	A	T	7: 19,087,528	Y237F	probably damaging	Het
Dnah6	T	A	6: 73,044,762	T3526S	possibly damaging	Het
Dock2	T	C	11: 34,273,767		probably null	Het
Dsp	G	A	13: 38,192,864	V1542I	probably benign	Het
Dst	T	A	1: 34,198,505		probably null	Het
Esd	T	C	14: 74,741,160	L54S	probably damaging	Het
Exd1	C	T	2: 119,520,326	A485T	probably benign	Het
Gm3604	A	T	13: 62,369,043	N500K	probably damaging	Het
Gm7102	C	T	19: 61,175,926	G24R	unknown	Het
Grhl2	T	A	15: 37,335,659		probably null	Het
Gsto1	C	T	19: 47,864,391	R222C	probably benign	Het
H2afy2	C	T	10: 61,739,353	D355N	possibly damaging	Het
Inpp4a	T	A	1: 37,371,780	M343K	probably damaging	Het
Itpripl2	T	C	7: 118,491,057	Q93R	probably benign	Het
Jakmip2	G	A	18: 43,567,143	T450I	probably benign	Het
Kdm6b	A	T	11: 69,403,794	I1186N	unknown	Het
Kif1a	T	C	1: 93,021,209		probably null	Het
Klhl20	T	C	1: 161,098,376	K434R	probably benign	Het
Lemd3	T	C	10: 120,931,948	D697G	probably damaging	Het
Lipo1	A	G	19: 33,776,587	S383P	probably damaging	Het
Ltn1	C	A	16: 87,379,694	K1741N	probably damaging	Het
Lvrn	A	T	18: 46,905,351	T991S	probably damaging	Het
Mast3	C	A	8: 70,788,915	R151L	possibly damaging	Het
Muc4	G	C	16: 32,753,919	R1265P	probably benign	Het
Myoz1	T	C	14: 20,655,309	K14E	probably damaging	Het
Neb	G	T	2: 52,192,520	Q5450K	probably damaging	Het
Nlrp4e	A	T	7: 23,336,740	N673Y	probably benign	Het
Nop53	C	T	7: 15,942,204	R190Q	probably damaging	Het
Notch4	T	C	17: 34,570,118	Y468H	probably damaging	Het
Obscn	T	C	11: 59,067,607	T3507A	probably damaging	Het
Olfr724	T	C	14: 49,960,224	N283D	probably damaging	Het
Opn5	T	C	17: 42,611,296	H5R	probably benign	Het
Patl1	T	C	19: 11,925,151	M349T	probably benign	Het
Phactr3	A	G	2: 178,284,018	N362S	probably damaging	Het
Pirb	C	T	7: 3,717,603	G299S	probably benign	Het
Rapgef5	G	A	12: 117,756,074	R579Q	probably damaging	Het
Rgl1	T	C	1: 152,554,330	D234G	probably benign	Het
Serpinb3a	C	T	1: 107,048,586	E122K	probably benign	Het
Slc22a15	T	C	3: 101,875,603		probably benign	Het
Slc25a12	A	T	2: 71,296,805	V344E	probably damaging	Het
Slc43a2	T	C	11: 75,543,293	L99P	probably damaging	Het
Smim27	G	T	4: 40,269,719		probably null	Het
Smtn	A	G	11: 3,520,736		probably benign	Het
Szt2	A	T	4: 118,369,248	Y3001N	unknown	Het
Tgfbr3	G	T	5: 107,109,719	P825T	probably damaging	Het
Tnpo3	T	C	6: 29,568,938	T472A	probably benign	Het
Trf	T	A	9: 103,227,915	D66V	probably damaging	Het
Vmn1r124	A	G	7: 21,259,699	C307R	probably damaging	Het
Vps13b	T	A	15: 35,452,224	F656Y	possibly damaging	Het
Zic1	G	T	9: 91,362,531	S358R	probably damaging	Het

Other mutations in Nedd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00764:Nedd1	APN	10	92694974	splice site	probably benign
IGL00988:Nedd1	APN	10	92689686	missense	possibly damaging	0.71
IGL01563:Nedd1	APN	10	92698169	critical splice donor site	probably null
IGL01588:Nedd1	APN	10	92686262	missense	probably benign	0.12
IGL01988:Nedd1	APN	10	92714159	missense	probably benign	0.39
IGL02706:Nedd1	APN	10	92686285	missense	possibly damaging	0.88
IGL02938:Nedd1	APN	10	92689657	nonsense	probably null
IGL03011:Nedd1	APN	10	92689641	missense	possibly damaging	0.92
Brainless	UTSW	10	92690773	missense	probably benign	0.01
R0125:Nedd1	UTSW	10	92691929	missense	possibly damaging	0.93
R0173:Nedd1	UTSW	10	92698883	missense	probably benign	0.30
R0244:Nedd1	UTSW	10	92716265	intron	probably benign
R0645:Nedd1	UTSW	10	92691831	splice site	probably null
R0791:Nedd1	UTSW	10	92719614	missense	probably damaging	1.00
R1490:Nedd1	UTSW	10	92700798	missense	probably damaging	1.00
R1522:Nedd1	UTSW	10	92719614	missense	probably damaging	1.00
R1797:Nedd1	UTSW	10	92698739	missense	possibly damaging	0.46
R1984:Nedd1	UTSW	10	92714160	missense	possibly damaging	0.63
R2474:Nedd1	UTSW	10	92719603	missense	probably damaging	0.99
R2877:Nedd1	UTSW	10	92714126	missense	possibly damaging	0.89
R2883:Nedd1	UTSW	10	92694998	missense	probably damaging	0.98
R4694:Nedd1	UTSW	10	92719582	missense	probably benign	0.00
R4798:Nedd1	UTSW	10	92698910	missense	probably benign	0.00
R4963:Nedd1	UTSW	10	92695031	missense	probably damaging	1.00
R5174:Nedd1	UTSW	10	92711212	missense	possibly damaging	0.77
R5329:Nedd1	UTSW	10	92686240	missense	probably damaging	1.00
R5404:Nedd1	UTSW	10	92716192	missense	probably benign	0.04
R5534:Nedd1	UTSW	10	92695032	missense	probably benign	0.01
R6045:Nedd1	UTSW	10	92695100	nonsense	probably null
R6154:Nedd1	UTSW	10	92698242	missense	possibly damaging	0.65
R6512:Nedd1	UTSW	10	92691875	missense	probably benign
R6692:Nedd1	UTSW	10	92698337	missense	possibly damaging	0.88
R6693:Nedd1	UTSW	10	92698337	missense	possibly damaging	0.88
R6943:Nedd1	UTSW	10	92711306	missense	probably damaging	1.00
R7011:Nedd1	UTSW	10	92690773	missense	probably benign	0.01
R7406:Nedd1	UTSW	10	92711323	splice site	probably null
R7455:Nedd1	UTSW	10	92700925	missense	probably benign	0.01
R7587:Nedd1	UTSW	10	92698730	missense	probably benign	0.01
R7745:Nedd1	UTSW	10	92714172	missense	probably benign
R8104:Nedd1	UTSW	10	92691916	missense	probably damaging	1.00
R8209:Nedd1	UTSW	10	92691935	missense	probably benign
R8226:Nedd1	UTSW	10	92691935	missense	probably benign
R8925:Nedd1	UTSW	10	92722396	start gained	probably benign
R8927:Nedd1	UTSW	10	92722396	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- GATGGAATAGTGCGTGCTGC -3'
(R):5'- CAAAAGTATGACTGTAGATCTCCCCG -3'

Sequencing Primer
(F):5'- GTGCTGCAAAATCCACTTTCAAGG -3'
(R):5'- TCTCATGCAATCTTCCTGGTTAGG -3'

Posted On

2016-03-01