Mutagenetix > Incidental Mutations

Incidental Mutation 'R5534:Nedd1'

434721

Institutional Source

Beutler Lab

Gene Symbol

Nedd1

Ensembl Gene

ENSMUSG00000019988

Gene Name

neural precursor cell expressed, developmentally down-regulated gene 1

Synonyms

MMRRC Submission

043092-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.967) question?

Stock #

R5534 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

92684746-92722420 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 92695032 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 398 (F398L)

Ref Sequence

ENSEMBL: ENSMUSP00000020163 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000020163
AA Change: F398L

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000020163
Gene: ENSMUSG00000019988
AA Change: F398L

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 94.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	C	A	15: 8,228,835	F2188L	probably benign	Het
Adam18	T	A	8: 24,665,514	D163V	probably benign	Het
Ank2	A	T	3: 126,947,298		probably benign	Het
Ankmy1	T	C	1: 92,886,720	E355G	probably damaging	Het
Ankmy2	A	G	12: 36,182,492	N172S	probably damaging	Het
Ankrd50	A	G	3: 38,456,082	M712T	probably damaging	Het
Apcdd1	T	C	18: 62,937,034	I124T	probably benign	Het
Carmil3	A	G	14: 55,494,890	K256R	probably damaging	Het
Cass4	G	T	2: 172,426,768	V259L	probably benign	Het
Ccdc141	A	G	2: 77,057,897	V508A	probably benign	Het
Ccdc33	A	G	9: 58,117,167	S226P	possibly damaging	Het
Cep72	T	C	13: 74,062,216	E9G	probably benign	Het
Clca4b	A	T	3: 144,915,466	Y616N	probably damaging	Het
Cnot4	A	G	6: 35,078,004	S117P	possibly damaging	Het
Col11a2	C	T	17: 34,051,024	A429V	probably damaging	Het
Col4a4	T	C	1: 82,487,517	E979G	unknown	Het
Coq10b	T	C	1: 55,064,200	Y46H	possibly damaging	Het
Dnah17	T	C	11: 118,052,770	T3169A	possibly damaging	Het
Dock6	G	A	9: 21,803,076	R1824*	probably null	Het
Dsp	A	C	13: 38,195,842	I1589L	probably benign	Het
Edil3	A	G	13: 89,199,474	T383A	probably benign	Het
Efemp1	T	C	11: 28,867,758	V79A	probably damaging	Het
Esyt1	C	T	10: 128,519,460	V471I	probably benign	Het
Fbxo30	T	C	10: 11,289,665	S44P	possibly damaging	Het
Fdx1l	G	T	9: 21,073,266	D57E	probably benign	Het
Gbp11	A	T	5: 105,331,038	V178D	probably damaging	Het
Gm13084	G	T	4: 143,812,599	S108*	probably null	Het
Gna11	A	T	10: 81,531,133	I283N	probably damaging	Het
Grid2	A	T	6: 63,503,361	Q53L	probably benign	Het
Jmjd6	A	G	11: 116,840,426	S266P	probably damaging	Het
Kdelc1	C	T	1: 44,112,677	V351M	probably damaging	Het
Kirrel	G	A	3: 87,090,518	R233C	probably damaging	Het
Kmt2d	A	G	15: 98,837,357		probably benign	Het
Lama3	A	T	18: 12,553,210	T1171S	probably benign	Het
Ltbr	G	A	6: 125,312,794	R146W	probably damaging	Het
Med13	A	T	11: 86,319,365	S650R	probably benign	Het
Meltf	T	A	16: 31,890,814		probably null	Het
Mgat1	T	C	11: 49,261,149	V153A	probably benign	Het
Mmp16	A	T	4: 18,110,452	D416V	probably damaging	Het
Myh3	A	T	11: 67,097,044	R1448W	probably damaging	Het
Olfr1009	T	C	2: 85,721,987	I194T	probably benign	Het
Olfr1295	T	C	2: 111,565,004	T147A	probably benign	Het
Olfr199	T	C	16: 59,216,040	D191G	probably benign	Het
Olfr237-ps1	A	G	6: 43,153,633	I109M	probably benign	Het
Otud3	A	G	4: 138,897,583	L269P	probably damaging	Het
Otx1	A	G	11: 21,996,296		probably benign	Het
Pcdhga7	A	C	18: 37,716,278	D446A	probably damaging	Het
Pcnx2	T	G	8: 125,838,015	K1046N	possibly damaging	Het
Pfkp	C	A	13: 6,648,583	G33W	probably damaging	Het
Pold1	A	G	7: 44,538,619	I585T	probably damaging	Het
Pole4	A	G	6: 82,652,134	Y84H	possibly damaging	Het
Ptpn23	A	G	9: 110,392,741	S126P	possibly damaging	Het
R3hdm4	C	T	10: 79,912,458	E162K	possibly damaging	Het
Rin3	T	C	12: 102,387,632	L766P	probably damaging	Het
Rnd2	C	T	11: 101,468,999	L57F	probably damaging	Het
Rras2	G	A	7: 114,050,415	T138I	possibly damaging	Het
Scrn2	A	G	11: 97,030,925	I74V	probably benign	Het
Sema6d	T	C	2: 124,659,815	I526T	possibly damaging	Het
Shd	G	T	17: 55,971,577	E47*	probably null	Het
Slc22a27	T	C	19: 7,926,631	H47R	probably damaging	Het
Slc36a3	C	G	11: 55,142,769	W141S	possibly damaging	Het
Slc9c1	T	A	16: 45,556,614	V429E	probably benign	Het
Smg8	A	T	11: 87,085,470	D428E	probably benign	Het
Snrpe	A	T	1: 133,606,473	F84Y	probably benign	Het
Tbc1d2b	C	T	9: 90,227,506	D306N	possibly damaging	Het
Trav9n-4	A	G	14: 53,294,899	Y70C	probably damaging	Het
Ush1c	A	G	7: 46,221,423	I330T	probably damaging	Het
Wnt11	T	C	7: 98,839,142	L12P	probably damaging	Het
Zan	A	G	5: 137,438,451	S2047P	unknown	Het
Zcchc6	A	G	13: 59,788,553	F843L	probably damaging	Het
Zfp763	A	C	17: 33,021,794	S20R	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
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
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

Predicted Primers

PCR Primer
(F):5'- CGGGGATTGGAACCATGTAC -3'
(R):5'- TAAACTTGCACCAGGGTGG -3'

Sequencing Primer
(F):5'- CCATGTACAGTGACTAGCATTTGC -3'
(R):5'- ACCAGGGTGGGTAATGTCCATTTTAC -3'

Posted On

2016-10-24