Mutagenetix > Incidental Mutation

Incidental Mutation 'R9381:Nae1'

710025

Institutional Source

Beutler Lab

Gene Symbol

Nae1

Ensembl Gene

ENSMUSG00000031878

Gene Name

NEDD8 activating enzyme E1 subunit 1

Synonyms

Appbp1

MMRRC Submission

068992-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9381 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

105237660-105261269 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 105250239 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 218 (I218K)

Ref Sequence

ENSEMBL: ENSMUSP00000034349 (fasta)

Gene Model

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

AlphaFold

Q8VBW6

Predicted Effect

probably benign
Transcript: ENSMUST00000034349
AA Change: I218K

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000034349
Gene: ENSMUSG00000031878
AA Change: I218K

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

Predicted Effect

probably benign
Transcript: ENSMUST00000162466
AA Change: I194K

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000125456
Gene: ENSMUSG00000031878
AA Change: I194K

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2200002D01Rik	CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	7: 28,947,048 (GRCm39)		probably benign	Het
9930111J21Rik1	T	A	11: 48,839,204 (GRCm39)	K461M	probably damaging	Het
Abhd16b	A	G	2: 181,135,881 (GRCm39)	Y261C	probably damaging	Het
Acadl	T	C	1: 66,893,805 (GRCm39)	T117A	probably benign	Het
Adamts15	A	G	9: 30,813,816 (GRCm39)	V783A	probably damaging	Het
Aff1	A	T	5: 103,981,733 (GRCm39)	Q624L	possibly damaging	Het
Afg3l2	T	G	18: 67,575,451 (GRCm39)	E74A	probably damaging	Het
Aig1	T	C	10: 13,523,417 (GRCm39)	E238G	probably benign	Het
Ankrd17	C	T	5: 90,416,508 (GRCm39)	R1108Q	probably damaging	Het
Anks1	A	T	17: 28,272,979 (GRCm39)	Y958F	probably damaging	Het
Arhgef28	C	A	13: 98,036,269 (GRCm39)	Q1663H	possibly damaging	Het
Asb3	T	C	11: 31,051,088 (GRCm39)	L475P	probably damaging	Het
Atg9a	T	A	1: 75,162,726 (GRCm39)	M430L	probably benign	Het
Bco1	T	A	8: 117,837,631 (GRCm39)	V164E	probably benign	Het
Bhlhe40	T	C	6: 108,642,244 (GRCm39)	L396P	probably damaging	Het
C5ar2	A	T	7: 15,970,887 (GRCm39)	S347T	probably damaging	Het
Cdc42bpa	T	C	1: 179,969,048 (GRCm39)	S1212P	probably damaging	Het
Ceacam3	C	G	7: 16,893,715 (GRCm39)	Q409E		Het
Ces3b	T	C	8: 105,811,670 (GRCm39)	V62A	probably benign	Het
Dalrd3	A	G	9: 108,448,242 (GRCm39)		probably null	Het
Ddhd2	G	T	8: 26,239,849 (GRCm39)	A288E	probably benign	Het
Dnah17	T	A	11: 117,914,219 (GRCm39)	M4435L	probably benign	Het
Dok1	T	C	6: 83,009,972 (GRCm39)	K46E	probably damaging	Het
E030025P04Rik	A	G	11: 109,030,384 (GRCm39)	Y168H	unknown	Het
Elavl2	T	C	4: 91,197,009 (GRCm39)	N23S	probably benign	Het
Elfn1	T	C	5: 139,959,462 (GRCm39)	V822A	probably damaging	Het
Emb	G	T	13: 117,357,096 (GRCm39)		probably benign	Het
Exoc5	C	T	14: 49,275,194 (GRCm39)	S202N	probably benign	Het
Fryl	T	C	5: 73,240,637 (GRCm39)	D1321G	probably benign	Het
Gm12258	C	T	11: 58,750,007 (GRCm39)	T394I	unknown	Het
Gm28363	T	A	1: 117,654,615 (GRCm39)	S85T	probably damaging	Het
H2-Q1	A	G	17: 35,542,138 (GRCm39)	T237A	probably damaging	Het
Hectd4	A	T	5: 121,472,492 (GRCm39)	I2743F	possibly damaging	Het
Hs3st3b1	C	T	11: 63,812,692 (GRCm39)	G8S	probably benign	Het
Ighv1-16	T	C	12: 114,629,598 (GRCm39)	N63S	probably benign	Het
Il20rb	A	G	9: 100,343,541 (GRCm39)	F238L	possibly damaging	Het
Il31ra	A	T	13: 112,668,253 (GRCm39)	F439I	possibly damaging	Het
Jup	C	T	11: 100,270,391 (GRCm39)	C372Y	probably damaging	Het
Kat2a	T	C	11: 100,602,692 (GRCm39)	Q132R	possibly damaging	Het
Kcnq2	A	G	2: 180,751,562 (GRCm39)	I278T	probably damaging	Het
Lama1	T	C	17: 68,044,479 (GRCm39)	V126A		Het
Lama2	T	A	10: 27,064,023 (GRCm39)	R1285*	probably null	Het
Larp1	A	G	11: 57,949,532 (GRCm39)	T1054A	probably benign	Het
Lrp1	A	T	10: 127,441,337 (GRCm39)	M262K	probably benign	Het
Lrrd1	A	G	5: 3,901,074 (GRCm39)	I460V	probably benign	Het
Ltbp1	A	T	17: 75,696,434 (GRCm39)	N1606I	probably damaging	Het
Mdga2	T	C	12: 66,597,304 (GRCm39)	N730S	possibly damaging	Het
Mpzl1	T	C	1: 165,429,323 (GRCm39)	H236R	probably damaging	Het
Mrps31	G	A	8: 22,904,752 (GRCm39)	R47K	probably damaging	Het
Npy2r	T	C	3: 82,448,356 (GRCm39)	T140A	probably damaging	Het
Nr2e1	T	A	10: 42,439,468 (GRCm39)	L350F	probably damaging	Het
Nup210l	C	T	3: 90,107,173 (GRCm39)	P1570L	probably benign	Het
Or51d1	A	T	7: 102,347,654 (GRCm39)	M70L	probably damaging	Het
Or5b124	G	T	19: 13,610,647 (GRCm39)	M57I	probably damaging	Het
Or5p50	A	C	7: 107,421,812 (GRCm39)	L288W	probably damaging	Het
Pabpc1l	G	T	2: 163,867,423 (GRCm39)	C8F	probably benign	Het
Pafah1b3	A	C	7: 24,994,699 (GRCm39)	F172V	probably benign	Het
Pcdhga6	A	T	18: 37,841,371 (GRCm39)	T364S	probably damaging	Het
Ppp3cc	T	A	14: 70,462,441 (GRCm39)	M399L	probably benign	Het
Prpsap2	T	C	11: 61,635,782 (GRCm39)	I173V	probably benign	Het
Rabggtb	A	T	3: 153,613,817 (GRCm39)	W252R	probably damaging	Het
Raph1	A	G	1: 60,540,959 (GRCm39)	F351L	unknown	Het
Rasd2	T	C	8: 75,948,589 (GRCm39)	S172P	probably damaging	Het
Rbm15	T	C	3: 107,238,752 (GRCm39)	T549A	probably benign	Het
Reln	A	G	5: 22,549,202 (GRCm39)	Y69H	possibly damaging	Het
Samd3	T	A	10: 26,147,643 (GRCm39)	N439K	probably benign	Het
Scap	C	A	9: 110,207,839 (GRCm39)	A516D	probably damaging	Het
Selplg	T	C	5: 113,957,917 (GRCm39)	T130A	probably benign	Het
Slc12a7	A	G	13: 73,949,063 (GRCm39)	M697V	probably benign	Het
Slc22a29	A	G	19: 8,195,841 (GRCm39)	I66T	probably benign	Het
Slco1a7	T	C	6: 141,711,490 (GRCm39)	I74V	probably benign	Het
Snrnp48	A	C	13: 38,404,667 (GRCm39)	I241L	probably damaging	Het
Sptb	C	T	12: 76,634,292 (GRCm39)	E2140K	probably benign	Het
Strip2	T	C	6: 29,927,333 (GRCm39)	S192P	probably benign	Het
Svil	A	T	18: 5,099,013 (GRCm39)	R1643S	probably benign	Het
Tbc1d2b	A	G	9: 90,101,139 (GRCm39)	V617A	possibly damaging	Het
Tmem102	T	C	11: 69,695,141 (GRCm39)	E277G	probably benign	Het
Tmtc4	T	G	14: 123,163,441 (GRCm39)	I648L	probably benign	Het
Togaram1	T	C	12: 65,014,204 (GRCm39)	V485A	probably damaging	Het
Trim43b	T	C	9: 88,969,642 (GRCm39)	I269V	probably benign	Het
Trpm2	T	A	10: 77,747,191 (GRCm39)	I1436F	possibly damaging	Het
Ube2d3	A	T	3: 135,168,722 (GRCm39)	I106F	possibly damaging	Het
Vdr	G	A	15: 97,755,333 (GRCm39)	R397C	probably damaging	Het
Vps50	T	C	6: 3,592,433 (GRCm39)	S689P	probably benign	Het
Wipf2	A	G	11: 98,787,068 (GRCm39)	T366A	probably damaging	Het
Zfp128	T	C	7: 12,624,897 (GRCm39)	Y422H	possibly damaging	Het
Zfyve28	G	A	5: 34,373,932 (GRCm39)	T694I	probably benign	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
R7120:Nae1	UTSW	8	105,252,910 (GRCm39)	critical splice donor site	probably null
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
R9402:Nae1	UTSW	8	105,254,817 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- GTGATAGCTAGACTTCAACTGAAAAGC -3'
(R):5'- ATTTTACTCACAGAGCTACTCCAC -3'

Sequencing Primer
(F):5'- TGAAAAGCTCCCACTTGCATTAC -3'
(R):5'- GAGCTACTCCACAGCCACTCAG -3'

Posted On

2022-04-18