Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02706:Nedd1'

304323

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nedd1

Ensembl Gene

ENSMUSG00000019988

Gene Name

neural precursor cell expressed, developmentally down-regulated gene 1

Synonyms

Accession Numbers

Essential gene?

Probably essential (E-score: 0.962) question?

Stock #

IGL02706

Quality Score

Status

Chromosome

Chromosomal Location

92684746-92722420 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 92686285 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 630 (H630R)

Ref Sequence

ENSEMBL: ENSMUSP00000020163 (fasta)

Gene Model

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

AlphaFold

P33215

Predicted Effect

possibly damaging
Transcript: ENSMUST00000020163
AA Change: H630R

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

SMART Domains

Protein: ENSMUSP00000020163
Gene: ENSMUSG00000019988
AA Change: H630R

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	T	C	17: 24,298,992	E781G	probably benign	Het
Abcc8	C	T	7: 46,166,921	R265Q	probably benign	Het
Agtr1b	A	T	3: 20,315,863	I193N	probably benign	Het
Atp6v1e2	A	G	17: 86,944,934	I12T	probably damaging	Het
Cacna1g	T	C	11: 94,456,992	T757A	probably damaging	Het
Cldn15	A	G	5: 136,974,831	K200R	probably benign	Het
Dip2b	G	T	15: 100,215,311	V1302F	probably damaging	Het
Dnajb6	T	A	5: 29,752,423	Y68N	probably damaging	Het
Dok1	T	A	6: 83,032,334	E179V	probably damaging	Het
Epha4	T	C	1: 77,426,845	T342A	probably damaging	Het
Etf1	A	T	18: 34,931,637	S6R	possibly damaging	Het
Fryl	T	C	5: 73,093,163	I987V	probably benign	Het
Gba2	C	T	4: 43,567,257	G897S	probably benign	Het
Habp2	G	T	19: 56,310,138		probably null	Het
Hapln1	G	T	13: 89,605,459	S248I	possibly damaging	Het
Hydin	A	G	8: 110,410,566	D667G	probably damaging	Het
Kcnma1	T	A	14: 23,309,154	H1074L	probably damaging	Het
Kctd9	T	C	14: 67,724,681		probably null	Het
L3mbtl4	A	G	17: 68,486,919	D306G	probably damaging	Het
Lgalsl	T	C	11: 20,830,090	R49G	probably damaging	Het
Lpo	C	T	11: 87,817,773	S133N	probably benign	Het
Lrp8	A	T	4: 107,803,319	R59*	probably null	Het
Mctp1	T	C	13: 76,823,069	F629S	probably damaging	Het
Med1	A	G	11: 98,156,707		probably benign	Het
Nbea	T	C	3: 56,037,278	H555R	probably damaging	Het
Nr3c2	A	T	8: 76,908,416		probably null	Het
Nubp2	A	T	17: 24,883,197	V267E	probably benign	Het
Oacyl	A	T	18: 65,749,721	Y629F	probably damaging	Het
Olfr1475	A	T	19: 13,480,098	Y33*	probably null	Het
Olfr353	A	G	2: 36,890,719	I43T	probably damaging	Het
Olfr54	T	A	11: 51,027,264	H87Q	probably damaging	Het
Pknox2	T	C	9: 36,936,379	H114R	probably benign	Het
Ppp2r1b	A	G	9: 50,878,834	D564G	possibly damaging	Het
Ppp3ca	T	G	3: 136,905,318	N367K	possibly damaging	Het
Ptprn2	T	C	12: 116,888,898	V525A	probably damaging	Het
Reps1	T	G	10: 18,123,015		probably benign	Het
Rgs11	G	A	17: 26,207,631	V279I	probably benign	Het
Sipa1l1	A	G	12: 82,397,433	I973V	possibly damaging	Het
Ssh2	T	A	11: 77,453,406	V739D	possibly damaging	Het
Tbc1d24	A	G	17: 24,185,421	F250L	probably benign	Het
Ube3a	T	A	7: 59,272,133	H84Q	possibly damaging	Het
Usp34	T	C	11: 23,388,659		probably benign	Het
Zdhhc8	G	T	16: 18,224,894	L481I	probably damaging	Het
Zfp574	A	G	7: 25,081,365	H604R	probably damaging	Het
Zfp945	A	T	17: 22,857,282	M63K	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
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
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

Posted On

2015-04-16