Mutagenetix > Incidental Mutation

Incidental Mutation 'R8925:Nedd1'

680198

Institutional Source

Beutler Lab

Gene Symbol

Nedd1

Ensembl Gene

ENSMUSG00000019988

Gene Name

neural precursor cell expressed, developmentally down-regulated gene 1

Synonyms

MMRRC Submission

068708-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.962) question?

Stock #

R8925 (G1)

Quality Score

169.009

Status

Validated

Chromosome

Chromosomal Location

92684746-92722420 bp(-) (GRCm38)

Type of Mutation

start gained

DNA Base Change (assembly)

T to A at 92722396 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000150817 (fasta)

Gene Model

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

AlphaFold

P33215

Predicted Effect

probably benign
Transcript: ENSMUST00000020163

SMART Domains

Protein: ENSMUSP00000020163
Gene: ENSMUSG00000019988

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: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

95% (54/57)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	G	A	9: 57,258,522	R190*	probably null	Het
4930402H24Rik	T	A	2: 130,737,380	R777*	probably null	Het
Aldh7a1	A	T	18: 56,526,988	S529T	probably benign	Het
Als2cr12	A	T	1: 58,667,723		probably null	Het
Carmil2	T	G	8: 105,688,498	Y214*	probably null	Het
Ccdc105	T	C	10: 78,752,424	Y184C	probably damaging	Het
Ccdc136	A	G	6: 29,406,110	I152V	probably damaging	Het
Ccdc88c	T	C	12: 100,966,417	D285G	possibly damaging	Het
Clec4a3	T	A	6: 122,969,369	F191I	probably damaging	Het
Dlg5	A	T	14: 24,156,479	S1222T		Het
Dnah14	T	G	1: 181,680,756	L1833W	probably damaging	Het
Dsg2	T	C	18: 20,592,478	W549R	probably damaging	Het
Ezh2	A	T	6: 47,533,779	V632E	possibly damaging	Het
Fam83a	G	A	15: 58,009,917	V381M	probably benign	Het
Fmo2	T	C	1: 162,876,829	T503A	probably benign	Het
Foxo1	T	C	3: 52,345,282	F289L	probably damaging	Het
Gckr	A	G	5: 31,299,559	E96G	probably damaging	Het
Gm18596	G	A	10: 77,742,328	A104V	unknown	Het
Gm21680	A	T	5: 25,971,349	N83K	probably damaging	Het
Gnb5	T	C	9: 75,344,954	V393A	possibly damaging	Het
Grin2b	T	G	6: 135,772,341	Q621P	probably damaging	Het
Gtsf2	T	C	15: 103,444,356	I79V	probably benign	Het
Itga1	T	C	13: 114,968,519	I1040V	probably benign	Het
Kif2b	C	T	11: 91,577,197	E87K	probably benign	Het
Klk1b8	G	A	7: 43,954,782	G225S	probably damaging	Het
L3mbtl3	A	T	10: 26,344,186	C94S	unknown	Het
Man2c1	T	G	9: 57,141,172	Y872*	probably null	Het
Mical3	T	A	6: 121,007,364	M832L	probably benign	Het
Mrc2	A	G	11: 105,325,508	D41G	probably benign	Het
Nefh	TTTGGCCTCAGCTGGTGACTTGGGCTCAGCTGGAGACTTGGCCTCACCTGGTGACTTG	TTTGGCCTCACCTGGTGACTTG	11: 4,940,530		probably benign	Het
Nicn1	C	T	9: 108,294,509	R163C	possibly damaging	Het
Notch3	C	T	17: 32,153,818	R593Q	probably benign	Het
Nxpe3	T	G	16: 55,849,634	E369D	possibly damaging	Het
Obscn	T	A	11: 59,086,869	T1802S	possibly damaging	Het
Olfr13	T	C	6: 43,174,735	F250L	probably benign	Het
Olfr1301	A	T	2: 111,754,762	H171L	probably benign	Het
Olfr1410	A	G	1: 92,608,716	N293S	probably damaging	Het
Olfr393	A	T	11: 73,847,580	F182I	probably benign	Het
Oscar	A	C	7: 3,611,748	V75G	probably benign	Het
Pcdhb17	G	A	18: 37,487,319	A721T	probably benign	Het
Pcnx2	T	C	8: 125,887,920	Y264C	probably benign	Het
Pear1	G	T	3: 87,754,583	A495D	probably damaging	Het
Peg10	GC	GCTCC	6: 4,756,452		probably benign	Het
Plekhf1	C	A	7: 38,221,574	R190L	probably damaging	Het
Plppr5	T	C	3: 117,575,883	V63A	probably benign	Het
Pyroxd1	T	A	6: 142,354,711	F189Y	probably damaging	Het
Rab13	C	T	3: 90,220,813		probably benign	Het
Rptor	C	T	11: 119,891,210	T1121I	probably benign	Het
Scgb2b7	T	C	7: 31,705,177	S33G	probably benign	Het
Slc25a36	A	G	9: 97,100,073		probably null	Het
Smc1b	A	T	15: 85,107,072		probably null	Het
Smtn	T	A	11: 3,529,477	H530L	possibly damaging	Het
Srrt	C	T	5: 137,298,808	C411Y	probably benign	Het
Stag1	C	A	9: 100,705,245	P7Q	possibly damaging	Het
Tarm1	G	A	7: 3,489,203	T248I	possibly damaging	Het
Trim6	C	T	7: 104,232,448	A328V	probably benign	Het
Vmn1r189	T	C	13: 22,102,641	I9V	probably benign	Het
Vmn2r93	A	G	17: 18,326,238	T791A	probably damaging	Het
Vsig10l	A	G	7: 43,466,596	T454A	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
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
R8927:Nedd1	UTSW	10	92722396	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- AGCTTGGCCCTTAAATCCGG -3'
(R):5'- AGAGTTGCCCGTGAATTCCC -3'

Sequencing Primer
(F):5'- TTAAATCCGGGGCCCGC -3'
(R):5'- TGGCTTAGAACTCAGCAGTC -3'

Posted On

2021-08-31