Mutagenetix > Incidental Mutation

Incidental Mutation 'R7454:Nme7'

577957

Institutional Source

Beutler Lab

Gene Symbol

Nme7

Ensembl Gene

ENSMUSG00000026575

Gene Name

NME/NM23 family member 7

Synonyms

Nm23-M7, D530024H21Rik, nucleoside-diphosphate kinase, non-metastatic cells 7, protein expressed in (nucleoside-diphosphate kinase)

MMRRC Submission

045528-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.230) question?

Stock #

R7454 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

164135091-164264870 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 164208217 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 295 (L295*)

Ref Sequence

ENSEMBL: ENSMUSP00000141431 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000191947] [ENSMUST00000193683] [ENSMUST00000193808]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000191947
AA Change: L295*

SMART Domains

Protein: ENSMUSP00000141431
Gene: ENSMUSG00000026575
AA Change: L295*

Domain	Start	End	E-Value	Type
DM10	22	110	1.9e-37	SMART
NDK	110	248	1.75e-68	SMART
NDK	256	394	1.11e-43	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000193683
AA Change: L295*

SMART Domains

Protein: ENSMUSP00000141963
Gene: ENSMUSG00000026575
AA Change: L295*

Domain	Start	End	E-Value	Type
DM10	22	110	1.9e-37	SMART
NDK	110	248	1.75e-68	SMART
NDK	256	394	1.11e-43	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000193808
AA Change: L295*

SMART Domains

Protein: ENSMUSP00000141771
Gene: ENSMUSG00000026575
AA Change: L295*

Domain	Start	End	E-Value	Type
DM10	22	110	1.9e-37	SMART
NDK	110	248	1.75e-68	SMART
NDK	256	394	1.11e-43	SMART

Coding Region Coverage

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

Validation Efficiency

100% (90/90)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the non-metastatic expressed family of nucleoside diphosphate kinases. Members of this family are enzymes that catalyzes phosphate transfer from nucleoside triphosphates to nucleoside diphosphates. This protein contains two kinase domains, one of which is involved in autophosphorylation and the other may be inactive. This protein localizes to the centrosome and functions as a component of the gamma-tubulin ring complex which plays a role in microtubule organization. Mutations in this gene may be associated with venous thromboembolism. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]
PHENOTYPE: Homozygous mice exhibit hydrocephaly, domed skulls and 50% exhibit situs inversus. [provided by MGI curators]

Allele List at MGI

All alleles(30) : Gene trapped(30)

Other mutations in this stock

Total: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510002D24Rik	A	G	16: 18,655,601 (GRCm39)	E57G	possibly damaging	Het
4932414N04Rik	C	A	2: 68,518,648 (GRCm39)	T159K	unknown	Het
Adamts10	T	A	17: 33,763,979 (GRCm39)	F616L	possibly damaging	Het
Adtrp	G	A	13: 41,981,791 (GRCm39)	S26L	unknown	Het
Alpk3	A	C	7: 80,728,310 (GRCm39)	E480A	probably benign	Het
Anks6	T	C	4: 47,038,919 (GRCm39)	T529A	unknown	Het
Arl4d	A	G	11: 101,557,486 (GRCm39)	H4R	probably benign	Het
Ash1l	A	G	3: 88,891,172 (GRCm39)	H1017R	probably benign	Het
Bbs12	T	C	3: 37,375,102 (GRCm39)	S517P	possibly damaging	Het
Bcl11b	C	A	12: 107,882,467 (GRCm39)	R616L	possibly damaging	Het
Bean1	G	A	8: 104,937,658 (GRCm39)	G79D	probably damaging	Het
Bicra	C	G	7: 15,706,059 (GRCm39)	G1461R	probably benign	Het
Bptf	T	C	11: 106,935,466 (GRCm39)	T124A	probably benign	Het
Btnl4	A	T	17: 34,691,348 (GRCm39)	V312E	probably benign	Het
Ccdc7a	A	G	8: 129,670,997 (GRCm39)	M503T	unknown	Het
Celf5	T	C	10: 81,318,357 (GRCm39)	E28G	probably damaging	Het
Cilp2	G	A	8: 70,336,040 (GRCm39)	L350F	probably damaging	Het
Clec4a2	T	C	6: 123,119,411 (GRCm39)	I245T	probably damaging	Het
Ctnnal1	A	T	4: 56,844,544 (GRCm39)	V140D	probably damaging	Het
Dennd4a	A	C	9: 64,759,852 (GRCm39)	H319P	probably damaging	Het
Dlgap3	G	T	4: 127,128,852 (GRCm39)	L857F	probably null	Het
Dnah6	T	A	6: 73,189,475 (GRCm39)	T58S	probably damaging	Het
Dnah7a	T	A	1: 53,557,923 (GRCm39)	M2164L	probably benign	Het
Dspp	T	A	5: 104,323,476 (GRCm39)	H206Q	probably benign	Het
Dzip1l	G	A	9: 99,541,727 (GRCm39)	V443M	possibly damaging	Het
Erc2	A	G	14: 28,024,948 (GRCm39)	H939R	possibly damaging	Het
Fam149a	G	T	8: 45,801,583 (GRCm39)	H513N	probably benign	Het
Fam171a2	T	C	11: 102,330,543 (GRCm39)	T280A	possibly damaging	Het
Fkbp5	A	C	17: 28,634,999 (GRCm39)	V170G	probably damaging	Het
Fnbp4	ACCACCTCCACCTCCACCTCC	ACCACCTCCACCTCCACCTCCACCTCC	2: 90,608,159 (GRCm39)		probably benign	Het
Fzd2	T	C	11: 102,495,955 (GRCm39)	F133S	probably damaging	Het
Galm	A	G	17: 80,445,550 (GRCm39)	N100S	possibly damaging	Het
Gbp2b	T	A	3: 142,303,920 (GRCm39)	I5N	possibly damaging	Het
Gga2	T	C	7: 121,601,369 (GRCm39)	R245G	probably benign	Het
Gm10053	A	G	19: 24,853,264 (GRCm39)	T50A	probably benign	Het
Gm1110	T	C	9: 26,831,945 (GRCm39)	T69A	probably benign	Het
Heatr5a	T	C	12: 52,008,326 (GRCm39)	S6G	probably benign	Het
Hmcn1	A	G	1: 150,439,355 (GRCm39)	S5610P	probably damaging	Het
Hmgb4	A	G	4: 128,154,199 (GRCm39)	V123A	probably damaging	Het
Itgal	C	A	7: 126,926,936 (GRCm39)	Q943K	probably benign	Het
Jakmip1	C	A	5: 37,332,498 (GRCm39)	D1059E	probably damaging	Het
Jazf1	T	C	6: 52,870,929 (GRCm39)		probably null	Het
Kat6a	A	G	8: 23,425,788 (GRCm39)	E1111G	possibly damaging	Het
Kdm4b	C	A	17: 56,696,639 (GRCm39)	P452T	probably benign	Het
Krit1	T	C	5: 3,862,474 (GRCm39)	Y210H	probably damaging	Het
Krtap6-2	A	T	16: 89,216,800 (GRCm39)	Y56N	unknown	Het
Lig1	A	T	7: 13,022,647 (GRCm39)	D158V	probably damaging	Het
Lmo1	A	T	7: 108,739,873 (GRCm39)	L94Q	probably benign	Het
Lrrc30	A	T	17: 67,939,238 (GRCm39)	L114H	probably damaging	Het
Ltn1	T	C	16: 87,194,700 (GRCm39)	I1400V	probably benign	Het
Mark3	T	C	12: 111,570,961 (GRCm39)	I87T	probably damaging	Het
Mfrp	G	T	9: 44,016,480 (GRCm39)	V392F	possibly damaging	Het
Mrgprg	A	G	7: 143,318,872 (GRCm39)	L80P	probably damaging	Het
Ndufaf3	A	T	9: 108,444,125 (GRCm39)	M1K	probably null	Het
Noct	G	T	3: 51,157,151 (GRCm39)	C163F	probably damaging	Het
Or11h4b	T	A	14: 50,918,281 (GRCm39)	Q270L	possibly damaging	Het
Or13a26	A	T	7: 140,284,547 (GRCm39)	I128F	probably damaging	Het
Or4b1	T	A	2: 89,979,763 (GRCm39)	I196F	possibly damaging	Het
Or5ak22	T	A	2: 85,229,955 (GRCm39)	K307N	probably damaging	Het
Or6c203	T	A	10: 129,010,324 (GRCm39)	T189S	probably damaging	Het
Or8g2	A	G	9: 39,821,200 (GRCm39)	I34V	probably benign	Het
Patz1	C	T	11: 3,248,297 (GRCm39)		probably benign	Het
Per3	A	G	4: 151,097,185 (GRCm39)	L780P	probably benign	Het
Pira1	T	G	7: 3,738,509 (GRCm39)	E622D	probably benign	Het
Pla2g4a	T	C	1: 149,748,441 (GRCm39)	M256V	possibly damaging	Het
Pnliprp1	A	G	19: 58,729,532 (GRCm39)	K395R	probably benign	Het
Poc5	G	T	13: 96,537,340 (GRCm39)	G242V	possibly damaging	Het
Ppfia4	A	G	1: 134,251,873 (GRCm39)	S434P	possibly damaging	Het
Prss42	A	G	9: 110,627,897 (GRCm39)	N110S	probably benign	Het
Ralgapb	T	A	2: 158,274,822 (GRCm39)	I241N	possibly damaging	Het
Rbak	A	C	5: 143,159,528 (GRCm39)	Y508*	probably null	Het
S1pr2	G	T	9: 20,878,845 (GRCm39)	R328S	possibly damaging	Het
Sap130	T	C	18: 31,783,565 (GRCm39)	M214T	probably benign	Het
Slc46a1	T	A	11: 78,357,337 (GRCm39)	V130E	probably damaging	Het
Smc4	A	T	3: 68,925,457 (GRCm39)	H343L	probably benign	Het
Tarbp1	C	A	8: 127,184,416 (GRCm39)	R500L	probably benign	Het
Tasor2	A	G	13: 3,635,332 (GRCm39)	S492P	probably benign	Het
Tgfbr3	A	T	5: 107,362,894 (GRCm39)	H39Q	probably damaging	Het
Tpp2	T	C	1: 43,993,819 (GRCm39)	S235P	probably benign	Het
Trbc2	G	T	6: 41,523,763 (GRCm39)	R33M		Het
Trim3	C	T	7: 105,268,765 (GRCm39)	R63Q	probably damaging	Het
Ttc28	T	C	5: 111,433,350 (GRCm39)	V2128A	probably benign	Het
Ttn	C	T	2: 76,556,162 (GRCm39)	R30281H	probably damaging	Het
Ttn	T	A	2: 76,774,483 (GRCm39)	Q2187L	unknown	Het
Ttyh3	T	C	5: 140,615,180 (GRCm39)	S403G	possibly damaging	Het
Vmn2r112	A	T	17: 22,822,288 (GRCm39)	D322V	probably benign	Het
Wdr38	C	T	2: 38,888,352 (GRCm39)		probably benign	Het
Xrn1	T	A	9: 95,930,411 (GRCm39)	S1543R	probably benign	Het
Zbtb8b	G	A	4: 129,326,562 (GRCm39)	T201I	possibly damaging	Het

Other mutations in Nme7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01066:Nme7	APN	1	164,172,999 (GRCm39)	splice site	probably null
IGL01662:Nme7	APN	1	164,155,866 (GRCm39)	missense	probably benign	0.02
IGL01893:Nme7	APN	1	164,172,850 (GRCm39)	missense	probably damaging	0.99
2107:Nme7	UTSW	1	164,172,922 (GRCm39)	missense	possibly damaging	0.94
R0255:Nme7	UTSW	1	164,172,944 (GRCm39)	missense	probably damaging	1.00
R3545:Nme7	UTSW	1	164,213,351 (GRCm39)	missense	probably damaging	0.99
R4380:Nme7	UTSW	1	164,172,807 (GRCm39)	missense	probably benign	0.35
R5177:Nme7	UTSW	1	164,208,245 (GRCm39)	nonsense	probably null
R8267:Nme7	UTSW	1	164,168,344 (GRCm39)	missense	probably benign	0.37
R8990:Nme7	UTSW	1	164,155,902 (GRCm39)	missense	probably damaging	1.00
R9570:Nme7	UTSW	1	164,206,961 (GRCm39)	missense	probably benign	0.01
R9781:Nme7	UTSW	1	164,155,890 (GRCm39)	missense	possibly damaging	0.90

Predicted Primers

PCR Primer
(F):5'- ATGTTACTTGCCACTGTGGG -3'
(R):5'- TGTTGGCCAATCGCACTTG -3'

Sequencing Primer
(F):5'- TCTGAGGTAGAACAGCCACAAGTTC -3'
(R):5'- GGCCAATCGCACTTGTTCTTTTAAG -3'

Posted On

2019-10-07