Mutagenetix > Incidental Mutation

Incidental Mutation 'R6693:Nedd1'

528177

Institutional Source

Beutler Lab

Gene Symbol

Nedd1

Ensembl Gene

ENSMUSG00000019988

Gene Name

neural precursor cell expressed, developmentally down-regulated gene 1

Synonyms

MMRRC Submission

044811-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.962) question?

Stock #

R6693 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

92684746-92722420 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 92698337 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 317 (K317R)

Ref Sequence

ENSEMBL: ENSMUSP00000020163 (fasta)

Gene Model

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

AlphaFold

P33215

Predicted Effect

possibly damaging
Transcript: ENSMUST00000020163
AA Change: K317R

PolyPhen 2 Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000020163
Gene: ENSMUSG00000019988
AA Change: K317R

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: ENSMUST00000214417

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215970

Meta Mutation Damage Score

0.0594

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.8%
20x: 93.3%

Validation Efficiency

100% (37/37)

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	C	3: 138,069,154	V1368A	probably benign	Het
Aak1	C	T	6: 86,965,515	S680L	unknown	Het
Adam25	A	T	8: 40,754,531	N278I	probably damaging	Het
Adamtsl1	C	A	4: 86,342,886	H1111Q	probably benign	Het
Adgrg7	T	A	16: 56,770,224	N195Y	probably damaging	Het
Arhgap23	A	G	11: 97,466,517	N436S	probably damaging	Het
Cfap65	T	C	1: 74,917,286	I1045V	probably benign	Het
Chrm3	T	C	13: 9,877,422	N526S	probably benign	Het
Cpeb2	A	T	5: 43,285,912	D982V	probably damaging	Het
Fbxw27	T	C	9: 109,788,044	I130V	probably benign	Het
Glb1l	T	C	1: 75,209,101	D61G	probably damaging	Het
Herc1	G	A	9: 66,478,976	C3737Y	probably damaging	Het
Kcnt2	A	T	1: 140,351,227	M39L	probably benign	Het
Kif17	C	A	4: 138,286,480	Q236K	probably benign	Het
Klhl25	T	C	7: 75,866,813	V184A	possibly damaging	Het
Lmf1	A	T	17: 25,645,278	M287L	probably benign	Het
Macf1	T	C	4: 123,473,808	T822A	possibly damaging	Het
Mmp13	A	T	9: 7,280,245	T392S	probably benign	Het
Myo6	T	A	9: 80,245,731	N215K	probably damaging	Het
Olfr1154	A	G	2: 87,903,308	Y123H	probably damaging	Het
Olfr146	C	T	9: 39,018,801	A247T	probably damaging	Het
Pax9	T	A	12: 56,709,731	S285T	probably benign	Het
Pcdhb15	A	T	18: 37,474,341	T209S	probably benign	Het
Pdpk1	A	T	17: 24,111,126		probably null	Het
Rbak	T	C	5: 143,174,111	K396E	probably damaging	Het
Rps6ka5	A	G	12: 100,573,829	V545A	probably benign	Het
Scg2	G	T	1: 79,436,020	Q329K	probably benign	Het
Shroom3	G	A	5: 92,940,758	A456T	possibly damaging	Het
Slc12a7	G	T	13: 73,797,537	A489S	probably benign	Het
Slc16a4	T	C	3: 107,303,064	I350T	probably damaging	Het
Slc25a45	T	C	19: 5,880,134	V44A	possibly damaging	Het
Sucla2	T	A	14: 73,568,667	L102*	probably null	Het
Tgif1	T	A	17: 70,850,890		probably benign	Het
Tmem8b	A	G	4: 43,669,837	E111G	probably benign	Het
Zfp971	G	T	2: 178,033,431	K274N	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
R6512:Nedd1	UTSW	10	92691875	missense	probably benign
R6692: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'- AGAGTTCCGTAACAAGGCAG -3'
(R):5'- TAGAGCAAAGTTCAGATATAGCAGC -3'

Sequencing Primer
(F):5'- TCTCTGACATAAGCAACATTACCTG -3'
(R):5'- GTTCAGATATAGCAGCAATCTTCAG -3'

Posted On

2018-07-24