Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02439:Nme6'

293388

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nme6

Ensembl Gene

ENSMUSG00000032478

Gene Name

NME/NM23 nucleoside diphosphate kinase 6

Synonyms

non-metastatic cells 6, protein expressed in (nucleoside-diphosphate kinase), nm23-M6

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02439

Quality Score

Status

Chromosome

Chromosomal Location

109661830-109672042 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 109670999 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Threonine at position 80 (P80T)

Ref Sequence

ENSEMBL: ENSMUSP00000143021 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035053] [ENSMUST00000197627] [ENSMUST00000200345] [ENSMUST00000200005] [ENSMUST00000200468] [ENSMUST00000199758]

AlphaFold

O88425

Predicted Effect

probably damaging
Transcript: ENSMUST00000035053
AA Change: P80T

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000035053
Gene: ENSMUSG00000032478
AA Change: P80T

Domain	Start	End	E-Value	Type
NDK	11	152	5.9e-66	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196312

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196425

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196797

Predicted Effect

probably benign
Transcript: ENSMUST00000197627

SMART Domains

Protein: ENSMUSP00000142778
Gene: ENSMUSG00000032478

Domain	Start	End	E-Value	Type
Pfam:NDK	12	91	2.2e-17	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198201

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199181

Predicted Effect

probably damaging
Transcript: ENSMUST00000200345
AA Change: P80T

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000142392
Gene: ENSMUSG00000032478
AA Change: P80T

Domain	Start	End	E-Value	Type
NDK	11	115	1.9e-28	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000200005
AA Change: P80T

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000142609
Gene: ENSMUSG00000032478
AA Change: P80T

Domain	Start	End	E-Value	Type
NDK	11	152	5.9e-66	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000200468
AA Change: P80T

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000143021
Gene: ENSMUSG00000032478
AA Change: P80T

Domain	Start	End	E-Value	Type
NDK	11	152	5.9e-66	SMART

Predicted Effect

silent
Transcript: ENSMUST00000199758

SMART Domains

Protein: ENSMUSP00000143591
Gene: ENSMUSG00000032478

Domain	Start	End	E-Value	Type
NDK	11	79	2.9e-4	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200091

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200660

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Nucleoside diphosphate (NDP) kinases (EC 2.7.4.6), such as NME6, are ubiquitous enzymes that catalyze transfer of gamma-phosphates, via a phosphohistidine intermediate, between nucleoside and dioxynucleoside tri- and diphosphates (Mehus et al., 1999 [PubMed 10453732]).[supplied by OMIM, Jul 2010]

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610042L04Rik	A	T	14: 4,348,890 (GRCm38)	Y17F	probably benign	Het
Ablim2	A	C	5: 36,015,206 (GRCm39)	T507P	possibly damaging	Het
Arhgef28	T	C	13: 98,067,647 (GRCm39)	Y1426C	possibly damaging	Het
Cftr	T	A	6: 18,258,237 (GRCm39)	Y592*	probably null	Het
Eogt	C	T	6: 97,120,934 (GRCm39)	G93D	possibly damaging	Het
Exosc9	A	G	3: 36,607,180 (GRCm39)		probably benign	Het
Frem1	T	C	4: 82,874,582 (GRCm39)	I1329V	probably benign	Het
Gal3st1	T	C	11: 3,948,110 (GRCm39)	F106L	possibly damaging	Het
Gulp1	A	T	1: 44,820,164 (GRCm39)	I216F	probably damaging	Het
Ints13	A	T	6: 146,455,721 (GRCm39)		probably benign	Het
Kars1	G	A	8: 112,724,268 (GRCm39)	T453I	probably benign	Het
Kif14	A	G	1: 136,417,999 (GRCm39)	D844G	probably damaging	Het
Lgals3bp	A	T	11: 118,289,046 (GRCm39)	C93S	probably damaging	Het
Lst1	T	C	17: 35,405,958 (GRCm39)	I32V	probably benign	Het
Malsu1	T	A	6: 49,052,121 (GRCm39)	Y114N	probably damaging	Het
Ndufa5	A	T	6: 24,519,201 (GRCm39)	V41E	probably damaging	Het
Odad2	T	A	18: 7,268,444 (GRCm39)	R358S	probably benign	Het
Or5ac20	A	G	16: 59,104,818 (GRCm39)	L14P	probably damaging	Het
Padi4	T	C	4: 140,473,532 (GRCm39)	D635G	probably damaging	Het
Pcf11	C	T	7: 92,311,049 (GRCm39)	S313N	possibly damaging	Het
Pdik1l	T	C	4: 134,006,015 (GRCm39)	H309R	probably benign	Het
Pdk2	A	T	11: 94,930,323 (GRCm39)		probably benign	Het
Pprc1	A	G	19: 46,060,758 (GRCm39)	S1606G	possibly damaging	Het
Ptch1	A	G	13: 63,692,910 (GRCm39)	I230T	probably damaging	Het
Scn10a	C	T	9: 119,447,914 (GRCm39)	R1381Q	probably benign	Het
Sestd1	T	C	2: 77,027,174 (GRCm39)	K479E	possibly damaging	Het
Sez6l2	C	T	7: 126,567,361 (GRCm39)	S892L	probably damaging	Het
Slc39a9	G	T	12: 80,713,350 (GRCm39)	A83S	probably benign	Het
Slc6a6	A	G	6: 91,726,808 (GRCm39)	Y483C	probably damaging	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
Tas2r131	A	G	6: 132,934,732 (GRCm39)	S26P	probably damaging	Het
Timd2	A	G	11: 46,569,063 (GRCm39)		probably benign	Het
Tmem126a	T	C	7: 90,104,641 (GRCm39)	E27G	probably damaging	Het
Tns2	G	A	15: 102,022,978 (GRCm39)	G1256E	probably damaging	Het
Trpv6	T	A	6: 41,602,421 (GRCm39)	I322F	probably damaging	Het
Tshr	G	A	12: 91,504,321 (GRCm39)	V420M	probably damaging	Het
Ttn	C	A	2: 76,596,431 (GRCm39)	A20161S	probably damaging	Het
Vmn2r66	A	T	7: 84,654,455 (GRCm39)		probably benign	Het
Zfp438	T	A	18: 5,213,216 (GRCm39)	S581C	probably damaging	Het

Other mutations in Nme6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03196:Nme6	APN	9	109,670,561 (GRCm39)	missense	probably damaging	1.00
PIT4585001:Nme6	UTSW	9	109,671,104 (GRCm39)	missense	possibly damaging	0.89
R1977:Nme6	UTSW	9	109,664,409 (GRCm39)	missense	probably damaging	1.00
R2971:Nme6	UTSW	9	109,671,159 (GRCm39)	splice site	probably benign
R4494:Nme6	UTSW	9	109,671,122 (GRCm39)	missense	probably damaging	1.00
R5183:Nme6	UTSW	9	109,670,557 (GRCm39)	nonsense	probably null
R7909:Nme6	UTSW	9	109,671,036 (GRCm39)	missense	probably damaging	1.00
R8090:Nme6	UTSW	9	109,671,019 (GRCm39)	nonsense	probably null
R8394:Nme6	UTSW	9	109,664,394 (GRCm39)	start codon destroyed	probably null	1.00
R8889:Nme6	UTSW	9	109,668,706 (GRCm39)	missense	probably damaging	0.99
R8892:Nme6	UTSW	9	109,668,706 (GRCm39)	missense	probably damaging	0.99

Posted On

2015-04-16