Mutagenetix > Incidental Mutation

Incidental Mutation 'R6943:Nedd1'

540669

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

Essential gene?

Probably essential (E-score: 0.952) question?

Stock #

R6943 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

92684746-92722420 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 92711306 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 118 (H118Q)

Ref Sequence

ENSEMBL: ENSMUSP00000020163 (fasta)

Gene Model

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

AlphaFold

P33215

Predicted Effect

probably damaging
Transcript: ENSMUST00000020163
AA Change: H118Q

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

SMART Domains

Protein: ENSMUSP00000020163
Gene: ENSMUSG00000019988
AA Change: H118Q

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: 99.8%
10x: 98.9%
20x: 96.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aacs	T	A	5: 125,506,298		probably null	Het
Arhgef1	A	G	7: 24,923,731	I423V	probably benign	Het
Aspm	T	C	1: 139,480,542	L2389P	probably damaging	Het
B4galt1	T	C	4: 40,812,860	M222V	probably benign	Het
Bsn	C	A	9: 108,107,817	G3013C	unknown	Het
Camsap2	T	C	1: 136,304,449	H136R	probably damaging	Het
Ccar1	A	G	10: 62,746,936	V1047A	unknown	Het
Ccdc80	A	G	16: 45,095,082	E67G	probably benign	Het
Ces3b	G	T	8: 105,093,078	G511V	probably damaging	Het
Cops6	T	A	5: 138,163,528	H224Q	probably benign	Het
Dnah5	A	T	15: 28,235,720	D331V	probably damaging	Het
Dupd1	T	C	14: 21,677,067	D171G	probably damaging	Het
Echs1	G	A	7: 140,108,094	T266I	probably damaging	Het
Ehmt2	G	A	17: 34,911,430	C1017Y	probably damaging	Het
Epb41l5	C	T	1: 119,609,129	R344Q	probably damaging	Het
Fcgbp	G	A	7: 28,092,052	V913I	probably benign	Het
Foxd4	A	G	19: 24,899,876	F320S	probably damaging	Het
Frmpd4	C	T	X: 167,604,583	R133K	probably damaging	Het
Glmp	A	G	3: 88,326,610	Y258C	probably damaging	Het
Gm4070	G	A	7: 105,901,980	Q622*	probably null	Het
Gphn	C	G	12: 78,492,181	S200R	possibly damaging	Het
H2-Q7	T	G	17: 35,439,584	M66R	probably benign	Het
Hivep2	T	A	10: 14,128,314	C219S	probably damaging	Het
Hlcs	A	T	16: 94,141,402	M90K	possibly damaging	Het
Itga8	C	A	2: 12,155,371		probably null	Het
Klrk1	T	A	6: 129,621,240	M1L	possibly damaging	Het
Kmo	T	A	1: 175,658,375	F385I	probably benign	Het
Lrit1	G	C	14: 37,060,095	V242L	probably damaging	Het
Lrrc3c	A	G	11: 98,599,249	D144G	probably damaging	Het
Lyzl4	C	T	9: 121,582,981	W123*	probably null	Het
Map3k1	A	G	13: 111,772,712	S77P	probably benign	Het
Mark1	T	C	1: 184,898,787	T709A	probably damaging	Het
Nbr1	A	T	11: 101,577,951	I878F	probably damaging	Het
Nfatc1	C	T	18: 80,635,555	G873S	probably damaging	Het
Ngly1	T	G	14: 16,283,467	N415K	probably damaging	Het
Nol6	C	A	4: 41,118,962	R677L	probably damaging	Het
Nop9	T	C	14: 55,752,813	V471A	probably benign	Het
Notch4	A	G	17: 34,583,603	N1333D	probably benign	Het
Nsun2	G	A	13: 69,630,033	G478R	probably damaging	Het
Olfr1036	T	C	2: 86,074,920	F60S	probably damaging	Het
Olfr248	T	A	1: 174,391,841	Y257*	probably null	Het
Olfr51	T	A	11: 51,007,326	M118K	probably damaging	Het
Olfr954	A	T	9: 39,461,863	Y144F	probably benign	Het
Pcp4l1	T	C	1: 171,174,453	E46G	possibly damaging	Het
Plek2	T	C	12: 78,889,309		probably null	Het
Rbl1	T	G	2: 157,188,286	I434L	probably benign	Het
Ryr2	A	G	13: 11,566,948	V4777A	possibly damaging	Het
Sgk1	T	C	10: 21,882,694	F19S	probably damaging	Het
Stard9	C	T	2: 120,702,196	A2978V	probably benign	Het
Syne1	T	C	10: 5,083,940	T7711A	probably benign	Het
Taf10	G	A	7: 105,744,176	T48I	probably benign	Het
Tgfbi	T	G	13: 56,637,176	S649A	possibly damaging	Het
Thbs3	T	C	3: 89,224,864	V749A	probably benign	Het
Tmem241	G	T	18: 12,047,584	H218N	possibly damaging	Het
Tmem266	C	T	9: 55,377,567		probably benign	Het
Tnc	T	C	4: 63,982,745	I1586M	probably damaging	Het
Ubr4	T	A	4: 139,437,131	C2676*	probably null	Het
Unc13a	A	T	8: 71,652,377	I747N	probably damaging	Het
Vangl1	A	T	3: 102,165,781		probably benign	Het
Vmn1r184	C	T	7: 26,267,138	T103I	possibly damaging	Het
Vmn1r204	T	C	13: 22,556,304	V35A	probably benign	Het
Vps13b	A	G	15: 35,448,689	H603R	possibly damaging	Het
Zfp105	A	G	9: 122,925,238	D44G	probably benign	Het
Zfp11	T	C	5: 129,658,088	H103R	probably damaging	Het
Zfp335	A	G	2: 164,894,875	F947L	possibly 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
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
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'- TGGCCAATACAGGTTGAAGG -3'
(R):5'- ACTCTGTGGACATGTAAGATGGTTC -3'

Sequencing Primer
(F):5'- CAGGTTGAAGGTTGCAATACTTC -3'
(R):5'- GAAACTCTTAGCCCAGGT -3'

Posted On

2018-11-06