Mutagenetix > Incidental Mutation

Incidental Mutation 'R6512:Nedd1'

519955

Institutional Source

Beutler Lab

Gene Symbol

Nedd1

Ensembl Gene

ENSMUSG00000019988

Gene Name

neural precursor cell expressed, developmentally down-regulated gene 1

Synonyms

MMRRC Submission

045017-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.962) question?

Stock #

R6512 (G1)

Quality Score

113.008

Status

Validated

Chromosome

Chromosomal Location

92684746-92722420 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 92691875 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 486 (A486T)

Ref Sequence

ENSEMBL: ENSMUSP00000020163 (fasta)

Gene Model

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

AlphaFold

P33215

Predicted Effect

probably benign
Transcript: ENSMUST00000020163
AA Change: A486T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000020163
Gene: ENSMUSG00000019988
AA Change: A486T

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214417

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 93.9%

Validation Efficiency

100% (39/39)

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700122O11Rik	A	G	17: 48,036,863	S211P	possibly damaging	Het
Abcb11	T	C	2: 69,282,652	T674A	probably benign	Het
Acad11	G	T	9: 104,095,559	E484*	probably null	Het
Ankhd1	A	T	18: 36,591,456	D389V	probably damaging	Het
Asic4	T	A	1: 75,473,043	L439*	probably null	Het
Atp13a2	A	G	4: 141,003,218	T808A	probably damaging	Het
Capn13	C	A	17: 73,382,990	V9L	probably benign	Het
Chst11	A	G	10: 83,191,468	Y243C	probably damaging	Het
Ctdp1	A	T	18: 80,451,263	W308R	probably damaging	Het
Dnttip2	A	G	3: 122,275,523	E129G	possibly damaging	Het
Dock5	A	G	14: 67,824,648	S424P	possibly damaging	Het
Ebf1	C	T	11: 44,992,341	H469Y	probably damaging	Het
Efhc1	A	T	1: 20,960,349	N169Y	probably damaging	Het
Elmo1	T	C	13: 20,373,161	L424P	probably damaging	Het
Ighv1-59	A	G	12: 115,335,383	V16A	probably damaging	Het
Kcnc1	T	G	7: 46,427,397	C208G	probably damaging	Het
Kif13b	A	T	14: 64,744,874		probably null	Het
Lilra6	T	A	7: 3,914,388	N203Y	probably benign	Het
Mkl1	T	C	15: 81,013,716	T787A	probably benign	Het
Myh8	A	T	11: 67,289,662	K575*	probably null	Het
Olfr170	A	T	16: 19,606,359	L103H	probably damaging	Het
Phrf1	T	C	7: 141,260,396	I1168T	possibly damaging	Het
Pla2g12a	T	A	3: 129,888,957	H59Q	probably benign	Het
Ralbp1	A	G	17: 65,861,275	V345A	probably damaging	Het
Ryr3	C	T	2: 112,867,378	V894M	possibly damaging	Het
Sec24b	T	A	3: 130,041,297	Y84F	probably damaging	Het
Slc22a26	T	C	19: 7,802,500		probably benign	Het
Smc1b	C	T	15: 85,092,031	R825Q	probably benign	Het
Spats1	C	T	17: 45,452,673		probably null	Het
Tbk1	T	A	10: 121,578,621	N63Y	probably damaging	Het
Tbl1xr1	C	T	3: 22,140,534		probably benign	Het
Top2b	T	A	14: 16,409,854	D840E	possibly damaging	Het
Trpc3	T	A	3: 36,662,758	Y377F	possibly damaging	Het
Uba6	C	T	5: 86,124,403	R778K	probably benign	Het
Vmn2r101	A	T	17: 19,588,884	I92F	probably damaging	Het
Vmn2r106	C	T	17: 20,268,463	C558Y	probably damaging	Het
Vmn2r70	G	T	7: 85,566,097	F76L	probably benign	Het
Vwa3b	A	G	1: 37,063,642		probably benign	Het
Zfp407	T	A	18: 84,560,349	T880S	probably damaging	Het
Zfp64	C	A	2: 168,894,077	G560V	probably benign	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
R4830:Nedd1	UTSW	10	92686258	missense	probably damaging	1.00
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
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'- TGACAGGCTCCAGAAGTGTTC -3'
(R):5'- TTGGGAGACATCTTAAGCATATGGC -3'

Sequencing Primer
(F):5'- GTGTTCTTCAGTGATTAAAAACTGGC -3'
(R):5'- ATATGGCGTTTCCTTTCTTTCCCAG -3'

Posted On

2018-06-06