Mutagenetix > Incidental Mutation

Incidental Mutation 'R7120:Nae1'

551937

Institutional Source

Beutler Lab

Gene Symbol

Nae1

Ensembl Gene

ENSMUSG00000031878

Gene Name

NEDD8 activating enzyme E1 subunit 1

Synonyms

Appbp1

MMRRC Submission

045209-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7120 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

105237660-105261269 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 105252910 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000125456 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034349] [ENSMUST00000162466]

AlphaFold

Q8VBW6

Predicted Effect

probably null
Transcript: ENSMUST00000034349

SMART Domains

Protein: ENSMUSP00000034349
Gene: ENSMUSG00000031878

Domain	Start	End	E-Value	Type
Pfam:ThiF	13	533	1.7e-23	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159393

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159696

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159702

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160913

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161462

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161474

Predicted Effect

probably null
Transcript: ENSMUST00000162466

SMART Domains

Protein: ENSMUSP00000125456
Gene: ENSMUSG00000031878

Domain	Start	End	E-Value	Type
PDB:3GZN\|C	1	510	N/A	PDB
SCOP:d1jw9b_	9	145	5e-23	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212514

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213067

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene binds to the beta-amyloid precursor protein. Beta-amyloid precursor protein is a cell surface protein with signal-transducing properties, and it is thought to play a role in the pathogenesis of Alzheimer's disease. In addition, the encoded protein can form a heterodimer with UBE1C and bind and activate NEDD8, a ubiquitin-like protein. This protein is required for cell cycle progression through the S/M checkpoint. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810062G17Rik	A	T	3: 36,536,016 (GRCm39)	Q94L	unknown	Het
4933411K16Rik	C	T	19: 42,041,112 (GRCm39)	A81V	probably benign	Het
Actr3	A	C	1: 125,331,169 (GRCm39)	Y273*	probably null	Het
Aoc1	T	A	6: 48,883,531 (GRCm39)	I469N	probably damaging	Het
Arhgef28	A	T	13: 98,081,047 (GRCm39)	L1270Q	probably damaging	Het
Atp2c1	G	A	9: 105,297,385 (GRCm39)	Q780*	probably null	Het
Bbs10	T	C	10: 111,135,310 (GRCm39)	V141A	possibly damaging	Het
Bivm	A	T	1: 44,165,606 (GRCm39)	T19S	probably benign	Het
Cacna1h	T	G	17: 25,610,481 (GRCm39)	H675P	probably benign	Het
Cadps	T	A	14: 12,439,919 (GRCm38)	L1204F	probably damaging	Het
Cald1	T	C	6: 34,663,011 (GRCm39)		probably null	Het
Calr	A	G	8: 85,569,457 (GRCm39)	M357T	probably damaging	Het
Ccni	A	T	5: 93,331,190 (GRCm39)	Y260*	probably null	Het
Csrnp3	C	A	2: 65,853,354 (GRCm39)	T594K	probably damaging	Het
Dek	A	T	13: 47,253,659 (GRCm39)	M152K	unknown	Het
Depdc1b	T	C	13: 108,498,781 (GRCm39)	W155R	probably benign	Het
Ehd1	A	G	19: 6,347,591 (GRCm39)	K315R	probably benign	Het
Epn3	C	A	11: 94,383,254 (GRCm39)	R323S	probably benign	Het
Fan1	T	A	7: 64,022,234 (GRCm39)	N340Y	probably damaging	Het
Fbxo10	T	A	4: 45,040,533 (GRCm39)	K891*	probably null	Het
Fras1	G	T	5: 96,900,819 (GRCm39)	G3013*	probably null	Het
Gbp2b	A	G	3: 142,312,507 (GRCm39)	T297A	probably benign	Het
Gbp7	T	C	3: 142,249,734 (GRCm39)	S402P	probably damaging	Het
Gclc	T	C	9: 77,694,032 (GRCm39)	Y329H	probably damaging	Het
Gfpt1	A	G	6: 87,064,375 (GRCm39)	H655R	probably benign	Het
Gm4787	C	A	12: 81,425,260 (GRCm39)	M299I	probably benign	Het
Grb7	C	A	11: 98,345,817 (GRCm39)	R532S	probably benign	Het
Hmcn1	A	T	1: 150,576,292 (GRCm39)	I2066N	probably damaging	Het
Hnrnpll	T	C	17: 80,341,486 (GRCm39)	T518A	probably benign	Het
Hps3	G	A	3: 20,065,705 (GRCm39)	R712W	probably damaging	Het
Hspd1	A	G	1: 55,118,388 (GRCm39)	V406A	probably benign	Het
Igkv2-112	T	C	6: 68,197,510 (GRCm39)	F61L	probably benign	Het
Iqcf5	G	A	9: 106,392,995 (GRCm39)	R84H	probably damaging	Het
Itgad	T	A	7: 127,773,146 (GRCm39)	M1K	probably null	Het
Kmt2d	A	G	15: 98,758,946 (GRCm39)	S1292P	unknown	Het
Macc1	C	A	12: 119,409,480 (GRCm39)	Q83K	possibly damaging	Het
Map3k4	G	T	17: 12,490,354 (GRCm39)	A359E	probably damaging	Het
Mfap3	T	A	11: 57,419,043 (GRCm39)	C68S	probably damaging	Het
Mipep	C	T	14: 61,112,696 (GRCm39)	R660C	possibly damaging	Het
Morc2b	A	T	17: 33,354,787 (GRCm39)	L995Q	probably damaging	Het
Mrc1	A	G	2: 14,313,508 (GRCm39)	N913S	probably damaging	Het
N4bp1	C	A	8: 87,587,495 (GRCm39)	C481F	probably benign	Het
Nup214	T	A	2: 31,941,054 (GRCm39)	V29E	probably benign	Het
Or1e30	A	T	11: 73,677,940 (GRCm39)	M59L	probably damaging	Het
Or8c11	T	C	9: 38,289,945 (GRCm39)	L250P	probably damaging	Het
Orai1	A	G	5: 123,167,535 (GRCm39)	E236G	possibly damaging	Het
P2rx7	A	G	5: 122,819,357 (GRCm39)	Y593C	probably benign	Het
Pcbp2	A	G	15: 102,383,113 (GRCm39)	D77G	possibly damaging	Het
Pcdha8	G	A	18: 37,126,840 (GRCm39)	V441M	possibly damaging	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398 (GRCm39)		probably benign	Het
Plaa	A	G	4: 94,470,919 (GRCm39)	S406P	possibly damaging	Het
Plekhh1	C	A	12: 79,117,713 (GRCm39)	P903Q	probably benign	Het
Plekhh3	T	C	11: 101,059,064 (GRCm39)	E92G	probably damaging	Het
Ptpn9	T	C	9: 56,967,166 (GRCm39)	F463S	probably damaging	Het
Ptprn2	A	C	12: 116,835,676 (GRCm39)	E337A	probably benign	Het
Rubcn	C	T	16: 32,656,839 (GRCm39)	R527Q	probably damaging	Het
Samd3	C	T	10: 26,106,864 (GRCm39)	T73M	possibly damaging	Het
Sfxn4	T	A	19: 60,840,477 (GRCm39)	K173*	probably null	Het
Son	CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC	CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC	16: 91,453,579 (GRCm39)		probably benign	Het
Son	T	G	16: 91,467,414 (GRCm39)	N2258K	unknown	Het
Sspo	A	T	6: 48,442,505 (GRCm39)	H2000L	probably benign	Het
Syne1	C	T	10: 5,243,971 (GRCm39)	S2731N	probably benign	Het
Syt6	T	C	3: 103,494,673 (GRCm39)	Y213H	probably damaging	Het
Tkt	A	G	14: 30,281,779 (GRCm39)	N99S	probably benign	Het
Tlcd3b	T	C	7: 126,428,505 (GRCm39)	L221P	probably damaging	Het
Tmem258	G	A	19: 10,181,602 (GRCm39)		probably benign	Het
Tnks1bp1	T	C	2: 84,902,441 (GRCm39)	S1702P	probably damaging	Het
Tpte	A	G	8: 22,817,689 (GRCm39)	D225G	probably damaging	Het
Trak1	T	A	9: 121,289,564 (GRCm39)	F625L	probably benign	Het
Ttc33	G	T	15: 5,241,488 (GRCm39)	C77F	probably benign	Het
Ugt1a2	A	G	1: 88,128,522 (GRCm39)	H55R	probably damaging	Het
Vmn1r169	G	T	7: 23,277,444 (GRCm39)	V279L	probably benign	Het
Vmn2r25	T	C	6: 123,805,394 (GRCm39)	K488E	possibly damaging	Het
Vmn2r8	A	T	5: 108,956,504 (GRCm39)	D39E	possibly damaging	Het

Other mutations in Nae1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00476:Nae1	APN	8	105,253,013 (GRCm39)	missense	possibly damaging	0.70
IGL00585:Nae1	APN	8	105,252,910 (GRCm39)	critical splice donor site	probably null
IGL00765:Nae1	APN	8	105,244,582 (GRCm39)	splice site	probably benign
IGL01420:Nae1	APN	8	105,249,797 (GRCm39)	missense	probably benign	0.00
IGL02314:Nae1	APN	8	105,252,938 (GRCm39)	missense	probably damaging	0.99
IGL02565:Nae1	APN	8	105,237,841 (GRCm39)	missense	probably damaging	1.00
IGL03202:Nae1	APN	8	105,244,811 (GRCm39)	splice site	probably benign
IGL03266:Nae1	APN	8	105,239,828 (GRCm39)	splice site	probably benign
Hangul	UTSW	8	105,246,267 (GRCm39)	missense	probably damaging	0.99
pixy_stix	UTSW	8	105,246,416 (GRCm39)	missense	probably damaging	1.00
taebaeksan	UTSW	8	105,257,023 (GRCm39)	critical splice donor site	probably null
R0436:Nae1	UTSW	8	105,249,868 (GRCm39)	splice site	probably benign
R0687:Nae1	UTSW	8	105,239,876 (GRCm39)	missense	probably damaging	1.00
R1500:Nae1	UTSW	8	105,250,216 (GRCm39)	missense	probably benign	0.06
R1746:Nae1	UTSW	8	105,254,017 (GRCm39)	missense	possibly damaging	0.74
R2241:Nae1	UTSW	8	105,246,420 (GRCm39)	missense	probably benign	0.00
R2255:Nae1	UTSW	8	105,256,700 (GRCm39)	missense	probably damaging	1.00
R4821:Nae1	UTSW	8	105,246,416 (GRCm39)	missense	probably damaging	1.00
R4928:Nae1	UTSW	8	105,242,774 (GRCm39)	missense	possibly damaging	0.76
R5062:Nae1	UTSW	8	105,243,334 (GRCm39)	missense	possibly damaging	0.60
R5240:Nae1	UTSW	8	105,249,776 (GRCm39)	intron	probably benign
R5250:Nae1	UTSW	8	105,257,023 (GRCm39)	critical splice donor site	probably null
R6052:Nae1	UTSW	8	105,261,176 (GRCm39)	missense	probably benign	0.01
R6075:Nae1	UTSW	8	105,251,001 (GRCm39)	missense	possibly damaging	0.77
R6108:Nae1	UTSW	8	105,254,034 (GRCm39)	missense	probably benign	0.07
R6318:Nae1	UTSW	8	105,250,269 (GRCm39)	missense	probably benign	0.40
R7202:Nae1	UTSW	8	105,250,215 (GRCm39)	missense	possibly damaging	0.77
R7491:Nae1	UTSW	8	105,244,871 (GRCm39)	missense	probably benign	0.13
R7659:Nae1	UTSW	8	105,242,796 (GRCm39)	missense	probably benign	0.26
R8120:Nae1	UTSW	8	105,246,267 (GRCm39)	missense	probably damaging	0.99
R9381:Nae1	UTSW	8	105,250,239 (GRCm39)	missense	probably benign	0.00
R9402:Nae1	UTSW	8	105,254,817 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- CTGGCCTGCATCCATTTATAAAG -3'
(R):5'- AGTTCCCGTGTCTGGCATATAC -3'

Sequencing Primer
(F):5'- CTTGGTACACAGTCATACATGCAGG -3'
(R):5'- TCTGGCATATACTTGCTGGC -3'

Posted On

2019-05-15