Mutagenetix > Incidental Mutation

Incidental Mutation 'R6045:Nedd1'

483793

Institutional Source

Beutler Lab

Gene Symbol

Nedd1

Ensembl Gene

ENSMUSG00000019988

Gene Name

neural precursor cell expressed, developmentally down-regulated gene 1

Synonyms

MMRRC Submission

044213-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.963) question?

Stock #

R6045 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

92684746-92722420 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 92695100 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 376 (R376*)

Ref Sequence

ENSEMBL: ENSMUSP00000020163 (fasta)

Gene Model

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

AlphaFold

P33215

Predicted Effect

probably null
Transcript: ENSMUST00000020163
AA Change: R376*

SMART Domains

Protein: ENSMUSP00000020163
Gene: ENSMUSG00000019988
AA Change: R376*

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: 98.1%
20x: 94.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011L22Rik	T	C	8: 79,229,367 (GRCm38)	Y87C	probably benign	Het
5530401A14Rik	A	G	11: 81,893,868 (GRCm38)		probably benign	Het
Adamts5	T	C	16: 85,899,300 (GRCm38)	D323G	probably damaging	Het
Albfm1	A	T	5: 90,584,989 (GRCm38)	Q553L	possibly damaging	Het
Bicc1	G	A	10: 70,957,081 (GRCm38)	R248*	probably null	Het
Bivm	T	G	1: 44,119,073 (GRCm38)		probably benign	Het
Btnl12	G	T	16: 37,856,022 (GRCm38)	Q128K	probably benign	Het
Ccdc8	A	C	7: 16,996,031 (GRCm38)	T482P	unknown	Het
Ccnb2	T	C	9: 70,419,093 (GRCm38)	I21V	probably benign	Het
Cfap73	A	T	5: 120,631,712 (GRCm38)	I82N	probably damaging	Het
Chd3	A	C	11: 69,352,118 (GRCm38)	F1426V	possibly damaging	Het
Clcn2	A	T	16: 20,711,688 (GRCm38)		probably null	Het
Col6a5	T	C	9: 105,925,918 (GRCm38)	N1283D	unknown	Het
Cyp39a1	G	T	17: 43,731,991 (GRCm38)	G411W	probably damaging	Het
D130052B06Rik	A	T	11: 33,624,008 (GRCm38)	I202L	unknown	Het
Defa38	A	T	8: 21,095,232 (GRCm38)	C65S	possibly damaging	Het
Dlgap1	T	C	17: 70,818,098 (GRCm38)	L948P	probably damaging	Het
Dnah3	C	T	7: 119,967,522 (GRCm38)	V2494M	probably damaging	Het
Dysf	T	A	6: 84,114,072 (GRCm38)	V1076D	probably damaging	Het
Eif2ak4	C	A	2: 118,388,815 (GRCm38)	S36*	probably null	Het
Elmod3	C	T	6: 72,568,868 (GRCm38)	R297H	probably benign	Het
Epas1	C	A	17: 86,809,399 (GRCm38)	R166S	probably damaging	Het
Erv3	A	G	2: 131,856,022 (GRCm38)	L139P	probably damaging	Het
Fryl	A	G	5: 73,118,551 (GRCm38)	V90A	probably damaging	Het
Fxr2	A	G	11: 69,651,051 (GRCm38)	R439G	possibly damaging	Het
Gabrd	A	T	4: 155,386,474 (GRCm38)	V259D	possibly damaging	Het
Galnt10	A	G	11: 57,783,793 (GRCm38)	Y536C	probably damaging	Het
Gbp10	A	T	5: 105,218,403 (GRCm38)	L545Q	probably damaging	Het
Gfpt1	A	T	6: 87,085,257 (GRCm38)	I517F	probably damaging	Het
Glb1	T	C	9: 114,437,942 (GRCm38)	Y225H	probably damaging	Het
Gm1110	C	T	9: 26,883,209 (GRCm38)		probably null	Het
Gmps	C	T	3: 63,980,137 (GRCm38)	P10L	probably benign	Het
Greb1l	T	A	18: 10,547,068 (GRCm38)	V1465D	probably damaging	Het
Helz2	A	G	2: 181,240,313 (GRCm38)	V229A	probably benign	Het
Hipk1	A	T	3: 103,746,902 (GRCm38)	L924Q	probably benign	Het
Ifngr1	T	G	10: 19,609,161 (GRCm38)	L303V	possibly damaging	Het
Kif22	T	C	7: 127,031,078 (GRCm38)	N429D	probably benign	Het
Ktn1	T	C	14: 47,676,796 (GRCm38)	Y401H	probably damaging	Het
Lars2	T	G	9: 123,371,988 (GRCm38)	I39S	probably damaging	Het
Lipf	C	T	19: 33,966,844 (GRCm38)	A151V	probably damaging	Het
Lrp1	A	T	10: 127,566,600 (GRCm38)	M2234K	probably damaging	Het
Lrp1b	A	G	2: 40,701,813 (GRCm38)	V56A	unknown	Het
Lyar	T	A	5: 38,234,008 (GRCm38)	H350Q	probably benign	Het
Mill2	A	T	7: 18,856,564 (GRCm38)	M190L	probably benign	Het
Morc3	A	G	16: 93,874,845 (GRCm38)	D921G	probably damaging	Het
Mpp2	G	T	11: 102,059,354 (GRCm38)	T558K	probably benign	Het
Myh4	A	G	11: 67,244,724 (GRCm38)	D379G	probably benign	Het
Neb	A	C	2: 52,194,425 (GRCm38)		probably null	Het
Nlrc4	T	G	17: 74,446,959 (GRCm38)	D143A	probably damaging	Het
Nol10	G	T	12: 17,348,478 (GRCm38)		probably benign	Het
Opn1sw	A	G	6: 29,379,870 (GRCm38)	S122P	probably damaging	Het
Or10j3b	C	T	1: 173,216,500 (GRCm38)	T283I	possibly damaging	Het
Or4f14d	T	G	2: 112,130,536 (GRCm38)	I92L	possibly damaging	Het
Or52h7	C	T	7: 104,564,767 (GRCm38)	T182I	probably benign	Het
Or5an9	C	A	19: 12,210,295 (GRCm38)	A243D	probably damaging	Het
Or5h27	T	A	16: 59,186,091 (GRCm38)	T131S	probably benign	Het
Orm1	T	A	4: 63,344,692 (GRCm38)	I32N	possibly damaging	Het
Pcdhb5	T	A	18: 37,321,575 (GRCm38)	V336E	probably damaging	Het
Poli	C	T	18: 70,517,469 (GRCm38)	R363K	possibly damaging	Het
Rabgap1l	T	C	1: 160,645,323 (GRCm38)	E515G	probably benign	Het
Rem2	C	A	14: 54,477,768 (GRCm38)	T134N	probably damaging	Het
Rfc1	A	G	5: 65,279,549 (GRCm38)	I596T	probably damaging	Het
Ruvbl2	A	T	7: 45,425,009 (GRCm38)	I202N	probably damaging	Het
S100a6	T	A	3: 90,613,879 (GRCm38)	I38N	probably damaging	Het
Scel	T	C	14: 103,592,213 (GRCm38)	C435R	probably benign	Het
Slc6a13	T	A	6: 121,321,628 (GRCm38)	W146R	probably damaging	Het
Sorcs1	T	A	19: 50,190,117 (GRCm38)	K856*	probably null	Het
Speer4e1	T	G	5: 14,937,181 (GRCm38)	K70T	possibly damaging	Het
Sucla2	T	A	14: 73,568,964 (GRCm38)	C158*	probably null	Het
Tie1	G	A	4: 118,484,691 (GRCm38)	S187L	probably benign	Het
Tmem200a	T	C	10: 25,993,007 (GRCm38)	T455A	probably damaging	Het
Tra2a	A	G	6: 49,252,464 (GRCm38)		probably benign	Het
Tsnaxip1	A	C	8: 105,844,187 (GRCm38)	E615A	probably benign	Het
Tuba3b	T	A	6: 145,621,174 (GRCm38)	N380K	probably damaging	Het
Umod	C	T	7: 119,476,823 (GRCm38)	S240N	probably benign	Het
Vmn2r92	G	A	17: 18,168,043 (GRCm38)		probably null	Het
Vps13b	A	G	15: 35,671,316 (GRCm38)	E1655G	probably damaging	Het
Vwde	A	T	6: 13,219,936 (GRCm38)	I72N	probably damaging	Het
Wbp11	G	A	6: 136,821,535 (GRCm38)	A172V	probably damaging	Het
Zbtb41	T	A	1: 139,424,032 (GRCm38)	N294K	probably benign	Het
Zfhx4	T	A	3: 5,396,959 (GRCm38)	H1206Q	probably damaging	Het

Other mutations in Nedd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00764:Nedd1	APN	10	92,694,974 (GRCm38)	splice site	probably benign
IGL00988:Nedd1	APN	10	92,689,686 (GRCm38)	missense	possibly damaging	0.71
IGL01563:Nedd1	APN	10	92,698,169 (GRCm38)	critical splice donor site	probably null
IGL01588:Nedd1	APN	10	92,686,262 (GRCm38)	missense	probably benign	0.12
IGL01988:Nedd1	APN	10	92,714,159 (GRCm38)	missense	probably benign	0.39
IGL02706:Nedd1	APN	10	92,686,285 (GRCm38)	missense	possibly damaging	0.88
IGL02938:Nedd1	APN	10	92,689,657 (GRCm38)	nonsense	probably null
IGL03011:Nedd1	APN	10	92,689,641 (GRCm38)	missense	possibly damaging	0.92
Brainless	UTSW	10	92,690,773 (GRCm38)	missense	probably benign	0.01
R0125:Nedd1	UTSW	10	92,691,929 (GRCm38)	missense	possibly damaging	0.93
R0173:Nedd1	UTSW	10	92,698,883 (GRCm38)	missense	probably benign	0.30
R0244:Nedd1	UTSW	10	92,716,265 (GRCm38)	intron	probably benign
R0645:Nedd1	UTSW	10	92,691,831 (GRCm38)	splice site	probably null
R0791:Nedd1	UTSW	10	92,719,614 (GRCm38)	missense	probably damaging	1.00
R1490:Nedd1	UTSW	10	92,700,798 (GRCm38)	missense	probably damaging	1.00
R1522:Nedd1	UTSW	10	92,719,614 (GRCm38)	missense	probably damaging	1.00
R1797:Nedd1	UTSW	10	92,698,739 (GRCm38)	missense	possibly damaging	0.46
R1984:Nedd1	UTSW	10	92,714,160 (GRCm38)	missense	possibly damaging	0.63
R2474:Nedd1	UTSW	10	92,719,603 (GRCm38)	missense	probably damaging	0.99
R2877:Nedd1	UTSW	10	92,714,126 (GRCm38)	missense	possibly damaging	0.89
R2883:Nedd1	UTSW	10	92,694,998 (GRCm38)	missense	probably damaging	0.98
R4694:Nedd1	UTSW	10	92,719,582 (GRCm38)	missense	probably benign	0.00
R4798:Nedd1	UTSW	10	92,698,910 (GRCm38)	missense	probably benign	0.00
R4830:Nedd1	UTSW	10	92,686,258 (GRCm38)	missense	probably damaging	1.00
R4963:Nedd1	UTSW	10	92,695,031 (GRCm38)	missense	probably damaging	1.00
R5174:Nedd1	UTSW	10	92,711,212 (GRCm38)	missense	possibly damaging	0.77
R5329:Nedd1	UTSW	10	92,686,240 (GRCm38)	missense	probably damaging	1.00
R5404:Nedd1	UTSW	10	92,716,192 (GRCm38)	missense	probably benign	0.04
R5534:Nedd1	UTSW	10	92,695,032 (GRCm38)	missense	probably benign	0.01
R6154:Nedd1	UTSW	10	92,698,242 (GRCm38)	missense	possibly damaging	0.65
R6512:Nedd1	UTSW	10	92,691,875 (GRCm38)	missense	probably benign
R6692:Nedd1	UTSW	10	92,698,337 (GRCm38)	missense	possibly damaging	0.88
R6693:Nedd1	UTSW	10	92,698,337 (GRCm38)	missense	possibly damaging	0.88
R6943:Nedd1	UTSW	10	92,711,306 (GRCm38)	missense	probably damaging	1.00
R7011:Nedd1	UTSW	10	92,690,773 (GRCm38)	missense	probably benign	0.01
R7406:Nedd1	UTSW	10	92,711,323 (GRCm38)	splice site	probably null
R7455:Nedd1	UTSW	10	92,700,925 (GRCm38)	missense	probably benign	0.01
R7587:Nedd1	UTSW	10	92,698,730 (GRCm38)	missense	probably benign	0.01
R7745:Nedd1	UTSW	10	92,714,172 (GRCm38)	missense	probably benign
R8104:Nedd1	UTSW	10	92,691,916 (GRCm38)	missense	probably damaging	1.00
R8209:Nedd1	UTSW	10	92,691,935 (GRCm38)	missense	probably benign
R8226:Nedd1	UTSW	10	92,691,935 (GRCm38)	missense	probably benign
R8925:Nedd1	UTSW	10	92,722,396 (GRCm38)	start gained	probably benign
R8927:Nedd1	UTSW	10	92,722,396 (GRCm38)	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- CCACTGTATGATTTAGACCCACATC -3'
(R):5'- TACACTTTAAGAGGGCAGCAG -3'

Posted On

2017-07-14