Mutagenetix > Incidental Mutation

Incidental Mutation 'R8794:Nme1'

671131

Institutional Source

Beutler Lab

Gene Symbol

Nme1

Ensembl Gene

ENSMUSG00000037601

Gene Name

NME/NM23 nucleoside diphosphate kinase 1

Synonyms

NM23-M1, NDPK-A, non-metastatic cells 1, protein (NM23A) expressed in

MMRRC Submission

068723-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8794 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

93849751-93859341 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 93851658 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 78 (F78I)

Ref Sequence

ENSEMBL: ENSMUSP00000103475 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021217] [ENSMUST00000021220] [ENSMUST00000107844] [ENSMUST00000135884] [ENSMUST00000170303]

AlphaFold

P15532

Predicted Effect

probably benign
Transcript: ENSMUST00000021217

SMART Domains

Protein: ENSMUSP00000021217
Gene: ENSMUSG00000020857

Domain	Start	End	E-Value	Type
NDK	4	141	2.8e-90	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000021220

SMART Domains

Protein: ENSMUSP00000021220
Gene: ENSMUSG00000037601

Domain	Start	End	E-Value	Type
NDK	4	127	8.86e-70	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000107844
AA Change: F78I

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000103475
Gene: ENSMUSG00000037601
AA Change: F78I

Domain	Start	End	E-Value	Type
NDK	4	102	4.83e-21	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000135884

SMART Domains

Protein: ENSMUSP00000117022
Gene: ENSMUSG00000037601

Domain	Start	End	E-Value	Type
NDK	4	141	5.74e-87	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000170303

SMART Domains

Protein: ENSMUSP00000132590
Gene: ENSMUSG00000091228

Domain	Start	End	E-Value	Type
NDK	4	118	7.56e-55	SMART
NDK	119	256	2.8e-90	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.9%
20x: 99.6%

Validation Efficiency

100% (86/86)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene (NME1) was identified because of its reduced mRNA transcript levels in highly metastatic cells. Nucleoside diphosphate kinase (NDK) exists as a hexamer composed of 'A' (encoded by this gene) and 'B' (encoded by NME2) isoforms. Mutations in this gene have been identified in aggressive neuroblastomas. Two transcript variants encoding different isoforms have been found for this gene. Co-transcription of this gene and the neighboring downstream gene (NME2) generates naturally-occurring transcripts (NME1-NME2), which encodes a fusion protein comprised of sequence sharing identity with each individual gene product. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mice for a targeted mutation of this gene are born normally, but exhibited high perinatal mortality of all genotypes on congenic backgrounds. This appears to be a maternal effect because the presence of a single functioning allele in females can prevent this mortality. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	T	A	17: 9,226,939 (GRCm39)	V498D	unknown	Het
Actn1	C	T	12: 80,245,754 (GRCm39)		probably benign	Het
Actrt2	T	C	4: 154,751,176 (GRCm39)	E320G	probably damaging	Het
Adamts7	C	T	9: 90,076,239 (GRCm39)	Q1265*	probably null	Het
Adra1a	A	G	14: 66,875,064 (GRCm39)	N13S	probably benign	Het
Alpk3	G	T	7: 80,707,403 (GRCm39)	R9L	unknown	Het
Ankrd42	A	G	7: 92,263,674 (GRCm39)	F225L	probably benign	Het
C3	T	C	17: 57,528,011 (GRCm39)	E736G	probably benign	Het
Ccng1	A	G	11: 40,644,826 (GRCm39)	S24P	probably benign	Het
Cdc42bpa	A	T	1: 179,894,816 (GRCm39)	N332I	probably damaging	Het
Cep131	G	A	11: 119,972,074 (GRCm39)	P90S	probably benign	Het
Chd8	A	G	14: 52,441,904 (GRCm39)	S2154P	probably damaging	Het
Cilp	A	G	9: 65,186,535 (GRCm39)	S877G	probably benign	Het
Clic6	T	A	16: 92,324,987 (GRCm39)	S382T	possibly damaging	Het
Coq8a	G	T	1: 180,006,773 (GRCm39)	P85Q	probably benign	Het
Creb3l4	A	G	3: 90,145,225 (GRCm39)	I309T	probably benign	Het
Cux2	T	C	5: 122,007,306 (GRCm39)	E785G	probably benign	Het
Cyfip2	A	G	11: 46,144,800 (GRCm39)	F685L	possibly damaging	Het
Epha6	T	C	16: 60,026,035 (GRCm39)	D469G	probably benign	Het
Erc1	A	T	6: 119,607,616 (GRCm39)	V962E	probably damaging	Het
Esrrb	A	T	12: 86,517,038 (GRCm39)	S57C	probably damaging	Het
Fam169a	A	G	13: 97,250,628 (GRCm39)	T320A	possibly damaging	Het
Farsb	C	T	1: 78,401,678 (GRCm39)		probably benign	Het
Frem3	T	C	8: 81,338,907 (GRCm39)	V400A	probably damaging	Het
Frem3	A	T	8: 81,342,851 (GRCm39)	M1715L	probably benign	Het
Frmpd1	A	G	4: 45,279,632 (GRCm39)	T786A	probably benign	Het
Gapvd1	A	T	2: 34,594,330 (GRCm39)	S886T	possibly damaging	Het
Gba2	A	G	4: 43,568,077 (GRCm39)	S737P	probably damaging	Het
Gm525	A	G	11: 88,979,479 (GRCm39)	N85S	probably damaging	Het
Gnpda1	T	A	18: 38,465,091 (GRCm39)	D175V	probably benign	Het
Heatr5b	T	C	17: 79,123,015 (GRCm39)	I655V	probably benign	Het
Hmcn1	G	A	1: 150,591,469 (GRCm39)	T1910I	probably benign	Het
Idh1	CA	CAA	1: 65,204,347 (GRCm39)		probably null	Het
Ier2	A	T	8: 85,389,096 (GRCm39)	D95E	probably damaging	Het
Ifi208	A	G	1: 173,523,370 (GRCm39)	R547G	possibly damaging	Het
Itih3	T	A	14: 30,634,854 (GRCm39)	S639C	possibly damaging	Het
Kif19b	A	G	5: 140,461,785 (GRCm39)	E529G	probably damaging	Het
Marchf7	G	A	2: 60,074,015 (GRCm39)		probably null	Het
Mep1b	A	C	18: 21,224,325 (GRCm39)	T373P	probably damaging	Het
Mlh3	G	A	12: 85,282,497 (GRCm39)	P1379S	probably damaging	Het
Nav3	T	A	10: 109,605,032 (GRCm39)	K1014*	probably null	Het
Nos3	T	A	5: 24,576,745 (GRCm39)	V458D	probably damaging	Het
Noxa1	A	G	2: 24,984,852 (GRCm39)	F29L	probably benign	Het
Nrcam	G	A	12: 44,624,958 (GRCm39)	G1055D	probably benign	Het
Nutf2	A	T	8: 106,602,171 (GRCm39)		probably benign	Het
Oog3	A	G	4: 143,884,556 (GRCm39)	I460T	probably benign	Het
Or4b1b	A	T	2: 90,112,150 (GRCm39)	Y256*	probably null	Het
Or4c113	T	C	2: 88,885,477 (GRCm39)	M98V	probably benign	Het
Or5p78	A	T	7: 108,211,580 (GRCm39)	D22V	probably benign	Het
Or7e175	A	T	9: 20,048,630 (GRCm39)	M73L	possibly damaging	Het
Pde2a	A	T	7: 101,155,136 (GRCm39)	Y559F	possibly damaging	Het
Pde6d	G	A	1: 86,475,209 (GRCm39)	Q61*	probably null	Het
Pdpr	A	G	8: 111,852,240 (GRCm39)	T536A	possibly damaging	Het
Pias4	T	A	10: 80,999,846 (GRCm39)	K69M	probably damaging	Het
Pigo	A	T	4: 43,023,787 (GRCm39)	D188E	possibly damaging	Het
Pik3r2	A	G	8: 71,224,007 (GRCm39)	V270A	probably benign	Het
Plod2	T	A	9: 92,482,801 (GRCm39)	W456R	probably damaging	Het
Pmpcb	T	C	5: 21,961,832 (GRCm39)	V450A	probably benign	Het
Poln	G	A	5: 34,286,871 (GRCm39)	T99I	possibly damaging	Het
Prg2	A	G	2: 84,812,404 (GRCm39)	D38G	possibly damaging	Het
Psmd7	A	C	8: 108,310,831 (GRCm39)	Y138D	probably damaging	Het
Ptprk	T	A	10: 28,139,504 (GRCm39)	Y76*	probably null	Het
Ranbp2	T	A	10: 58,328,414 (GRCm39)	V2810E	probably damaging	Het
Rgma	A	T	7: 73,067,648 (GRCm39)	H411L	probably damaging	Het
Sapcd1	T	C	17: 35,246,814 (GRCm39)	T25A	probably damaging	Het
Serpinb6e	T	C	13: 34,024,977 (GRCm39)	I105V	possibly damaging	Het
Serpinb9f	A	T	13: 33,513,396 (GRCm39)	T158S	probably benign	Het
Sirpb1b	T	A	3: 15,613,843 (GRCm39)	T80S	probably benign	Het
Skint6	A	T	4: 113,049,869 (GRCm39)	S265R	possibly damaging	Het
Slc23a2	A	T	2: 131,902,629 (GRCm39)	F524L	probably benign	Het
Slc2a13	C	A	15: 91,234,302 (GRCm39)	G345C	probably damaging	Het
Sp110	A	G	1: 85,511,231 (GRCm39)		probably null	Het
Srcin1	A	G	11: 97,439,803 (GRCm39)	V109A	probably benign	Het
Tfcp2l1	A	G	1: 118,560,118 (GRCm39)	N70S	probably damaging	Het
Tmem30c	T	A	16: 57,090,553 (GRCm39)	H218L	probably benign	Het
Tmprss11d	G	A	5: 86,486,680 (GRCm39)	T70I	probably damaging	Het
Tnpo2	A	T	8: 85,765,114 (GRCm39)	Q32L	probably benign	Het
Trav16n	A	C	14: 53,588,867 (GRCm39)	T48P	probably damaging	Het
Ufc1	A	G	1: 171,117,095 (GRCm39)	Y110H	probably damaging	Het
Wars2	A	G	3: 99,123,888 (GRCm39)	K250E	probably damaging	Het
Wdfy4	G	T	14: 32,869,049 (GRCm39)	N326K	probably benign	Het
Xirp2	A	T	2: 67,341,557 (GRCm39)	E1266V	probably damaging	Het
Zfp423	A	C	8: 88,507,857 (GRCm39)	L829R	probably damaging	Het
Zfp735	A	G	11: 73,603,029 (GRCm39)	K658E	possibly damaging	Het
Zscan12	T	A	13: 21,547,847 (GRCm39)	C10S	possibly damaging	Het
Zswim3	T	A	2: 164,662,687 (GRCm39)	M389K	probably damaging	Het

Other mutations in Nme1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01357:Nme1	APN	11	93,850,317 (GRCm39)	missense	possibly damaging	0.58
IGL02533:Nme1	APN	11	93,850,257 (GRCm39)	missense	possibly damaging	0.89
R1695:Nme1	UTSW	11	93,851,593 (GRCm39)	missense	probably benign	0.37
R2512:Nme1	UTSW	11	93,851,513 (GRCm39)	missense	possibly damaging	0.73
R4182:Nme1	UTSW	11	93,851,630 (GRCm39)	missense	probably benign	0.00
R4701:Nme1	UTSW	11	93,856,734 (GRCm39)	missense	probably damaging	1.00
R6928:Nme1	UTSW	11	93,850,229 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- GAGGCTCAAATTCCTGTGGC -3'
(R):5'- CAAAAGATTGCTGGAAGCCAC -3'

Sequencing Primer
(F):5'- GCTCAAATTCCTGTGGCAAGTAGC -3'
(R):5'- CACACGGATGGGTCTGAATTGATC -3'

Posted On

2021-04-30