Mutagenetix > Incidental Mutation

Incidental Mutation 'R7745:Nedd1'

596805

Institutional Source

Beutler Lab

Gene Symbol

Nedd1

Ensembl Gene

ENSMUSG00000019988

Gene Name

neural precursor cell expressed, developmentally down-regulated gene 1

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.970) question?

Stock #

R7745 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

92684746-92722420 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 92714172 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 84 (D84N)

Ref Sequence

ENSEMBL: ENSMUSP00000020163 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020163] [ENSMUST00000216086]

AlphaFold

P33215

Predicted Effect

probably benign
Transcript: ENSMUST00000020163
AA Change: D84N

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

SMART Domains

Protein: ENSMUSP00000020163
Gene: ENSMUSG00000019988
AA Change: D84N

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

probably benign
Transcript: ENSMUST00000216086

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

96% (55/57)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadac	A	C	3: 60,038,472	S188R	probably damaging	Het
Aars	T	A	8: 111,041,657	I220N	probably damaging	Het
Abca15	A	G	7: 120,332,217	N16S	probably damaging	Het
Adck1	A	T	12: 88,456,800	M358L	probably benign	Het
Adck5	A	T	15: 76,594,548	Q345L	probably benign	Het
Adgrl2	A	G	3: 148,836,458	F876S	probably damaging	Het
Aebp2	T	A	6: 140,623,858	L55Q	unknown	Het
Ampd2	C	A	3: 108,080,116	V134L	probably benign	Het
Aox3	T	C	1: 58,176,517	V1036A	possibly damaging	Het
Aox4	A	G	1: 58,240,707	D494G	probably benign	Het
Cacna1a	C	A	8: 84,559,394	H889Q	probably benign	Het
Cacna1c	T	C	6: 119,052,626	D151G		Het
Car8	A	G	4: 8,237,939	V92A	possibly damaging	Het
Ccdc8	G	T	7: 16,995,689	A368S	unknown	Het
Ccng2	C	G	5: 93,273,343	S237R	probably benign	Het
Cfap57	C	T	4: 118,614,931	V84I	probably benign	Het
Cntnap5a	A	G	1: 116,442,283	I877V	probably benign	Het
Copa	A	T	1: 172,111,942	D582V	probably damaging	Het
Cpne2	T	G	8: 94,568,684	S466A	probably damaging	Het
Crybg2	A	G	4: 134,088,845	K1311R	possibly damaging	Het
Csmd1	A	G	8: 15,932,461		probably null	Het
Dnah2	A	T	11: 69,451,318	C2947*	probably null	Het
Exoc1	A	T	5: 76,561,512	K656*	probably null	Het
Exoc8	T	C	8: 124,895,819	N603S	probably benign	Het
Fam171a1	T	A	2: 3,225,446	C539S	possibly damaging	Het
Fastkd5	A	T	2: 130,615,068	I534K	probably damaging	Het
Fbn1	T	C	2: 125,303,195	D2708G	probably benign	Het
Fhad1	A	G	4: 141,890,939	L1392P	probably benign	Het
Fras1	A	T	5: 96,726,895	T2306S	probably benign	Het
Gdf7	G	T	12: 8,301,854	A27E	unknown	Het
Hnrnph1	A	T	11: 50,379,497	I43F	probably damaging	Het
Igkv8-27	T	A	6: 70,172,015	S52C	probably benign	Het
Jmjd1c	T	C	10: 67,217,045	F24L	probably damaging	Het
Knl1	T	G	2: 119,071,556	L1246R	probably benign	Het
Limk2	C	T	11: 3,355,896	S191N	probably damaging	Het
Mdga2	G	A	12: 66,689,350	A368V	probably damaging	Het
Mdga2	C	A	12: 66,689,351	A368S	possibly damaging	Het
Med24	A	T	11: 98,704,967	L966Q	probably damaging	Het
Mgll	T	C	6: 88,725,788	V23A	possibly damaging	Het
Obscn	A	C	11: 59,060,855	L4024R	probably damaging	Het
Olfr172	A	T	16: 58,760,419	Y252*	probably null	Het
Pcnx2	T	C	8: 125,851,107	I944V	probably benign	Het
Pecr	T	C	1: 72,266,998		probably null	Het
Phf3	A	T	1: 30,804,224	W1885R	probably damaging	Het
Pitpnm2	C	G	5: 124,128,705	A697P	probably benign	Het
Piwil2	T	A	14: 70,394,189	H602L	probably benign	Het
Pprc1	T	C	19: 46,065,342	S1104P	unknown	Het
Prkar1a	T	A	11: 109,653,847	Y21*	probably null	Het
Prl2c3	A	T	13: 12,798,297	Y9*	probably null	Het
Rhbdl3	T	A	11: 80,323,579	L172Q	possibly damaging	Het
Rsph3a	T	G	17: 7,979,243	L484W	probably damaging	Het
Sbno1	A	T	5: 124,392,899	S809T	probably benign	Het
Stmnd1	T	A	13: 46,299,601	V251E	possibly damaging	Het
Stt3a	A	T	9: 36,751,239	C241*	probably null	Het
Tas2r114	A	T	6: 131,689,438	M209K	probably damaging	Het
Tchh	G	T	3: 93,444,777	R508L	unknown	Het
Tgfbr3l	T	C	8: 4,250,622	S267P	possibly damaging	Het
Ttn	T	A	2: 76,767,800	I19590F	probably damaging	Het
Vmn1r171	A	G	7: 23,632,610	T87A	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
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
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'- CACTTTGACGCTAAAGCATCC -3'
(R):5'- TTATACCTGTGACAGCTGGC -3'

Sequencing Primer
(F):5'- CATCCAATATCGAGGACAAGGTTTG -3'
(R):5'- CTGTGACAGCTGGCATCCAATATATC -3'

Posted On

2019-11-26