Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02807:Nme8'

360473

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nme8

Ensembl Gene

ENSMUSG00000041138

Gene Name

NME/NM23 family member 8

Synonyms

Sptrx-2, 1700056P15Rik, Txndc3

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.129) question?

Stock #

IGL02807

Quality Score

Status

Chromosome

Chromosomal Location

19645078-19697794 bp(-) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

C to A at 19675831 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000152780 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039340] [ENSMUST00000091763] [ENSMUST00000223466]

AlphaFold

Q715T0

Predicted Effect

probably benign
Transcript: ENSMUST00000039340

SMART Domains

Protein: ENSMUSP00000047052
Gene: ENSMUSG00000041138

Domain	Start	End	E-Value	Type
Pfam:Thioredoxin	11	112	3.7e-12	PFAM
Pfam:NDK	155	283	2.3e-14	PFAM
NDK	312	452	3.8e-28	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000091763

SMART Domains

Protein: ENSMUSP00000089358
Gene: ENSMUSG00000041138

Domain	Start	End	E-Value	Type
Pfam:Thioredoxin	11	112	6.9e-12	PFAM
Pfam:NDK	155	284	1.1e-13	PFAM
NDK	312	449	2.75e-25	SMART
NDK	450	586	1.45e-33	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144820

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220524

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221343

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223286

Predicted Effect

probably benign
Transcript: ENSMUST00000223466

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with an N-terminal thioredoxin domain and three C-terminal nucleoside diphosphate kinase (NDK) domains, but the NDK domains are thought to be catalytically inactive. The sea urchin ortholog of this gene encodes a component of sperm outer dynein arms, and the protein is implicated in ciliary function. Mutations in this gene are implicated in primary ciliary dyskinesia type 6.[provided by RefSeq, Nov 2009]
PHENOTYPE: Homozygous mutant displays normal reproductive system phenotype [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts16	C	A	13: 70,738,778		probably null	Het
Ankra2	T	C	13: 98,271,742	L73P	probably damaging	Het
Ankrd63	G	T	2: 118,703,308		probably benign	Het
Cars	A	T	7: 143,569,472	I469N	possibly damaging	Het
Chn2	A	G	6: 54,295,913	E183G	possibly damaging	Het
Fstl4	A	T	11: 53,186,674	T753S	probably benign	Het
Igf2r	G	T	17: 12,719,883	N511K	probably damaging	Het
Il12rb2	A	T	6: 67,351,316	I310N	probably damaging	Het
Kcnc3	C	A	7: 44,595,957	P557Q	probably damaging	Het
Mrps36	A	G	13: 100,741,166		probably null	Het
Mug1	A	G	6: 121,886,572	T1410A	probably damaging	Het
Olfr1423	A	G	19: 12,036,284	F153L	probably benign	Het
Olfr365	A	C	2: 37,201,574	N111T	probably damaging	Het
Olfr620	A	T	7: 103,611,991	S121T	probably benign	Het
Olfr883	C	T	9: 38,026,189	P128S	probably damaging	Het
Pcm1	A	G	8: 41,330,882	E2005G	probably damaging	Het
Phtf1	T	G	3: 103,997,553	S506A	probably benign	Het
Plpp5	G	T	8: 25,721,165		probably benign	Het
Rapgef4	G	T	2: 72,205,649		probably benign	Het
Syt15	G	A	14: 34,222,913	G139D	probably benign	Het
Trpm8	T	C	1: 88,348,108	L476P	probably damaging	Het
Virma	G	A	4: 11,507,079		probably benign	Het
Vmn1r170	T	A	7: 23,606,335	I54N	probably damaging	Het
Vmn2r98	G	A	17: 19,081,021	A762T	probably damaging	Het

Other mutations in Nme8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01984:Nme8	APN	13	19688980	missense	probably damaging	1.00
IGL02272:Nme8	APN	13	19658826	missense	probably damaging	0.99
IGL02344:Nme8	APN	13	19674404	missense	possibly damaging	0.94
IGL02395:Nme8	APN	13	19677908	missense	possibly damaging	0.64
IGL02621:Nme8	APN	13	19675648	missense	probably damaging	1.00
IGL02645:Nme8	APN	13	19660585	missense	probably damaging	1.00
IGL03059:Nme8	APN	13	19652244	missense	possibly damaging	0.92
IGL03288:Nme8	APN	13	19696606	missense	possibly damaging	0.94
IGL03323:Nme8	APN	13	19688950	missense	probably benign	0.06
R0139:Nme8	UTSW	13	19677848	missense	probably benign	0.19
R0616:Nme8	UTSW	13	19690859	missense	probably benign	0.00
R0632:Nme8	UTSW	13	19658036	missense	probably damaging	0.96
R1233:Nme8	UTSW	13	19660512	missense	possibly damaging	0.71
R1288:Nme8	UTSW	13	19674449	missense	possibly damaging	0.87
R1305:Nme8	UTSW	13	19696907	missense	possibly damaging	0.90
R1773:Nme8	UTSW	13	19697036	start codon destroyed	probably damaging	1.00
R1942:Nme8	UTSW	13	19675808	missense	probably damaging	1.00
R1970:Nme8	UTSW	13	19652322	missense	probably damaging	1.00
R2012:Nme8	UTSW	13	19696883	missense	probably damaging	1.00
R2093:Nme8	UTSW	13	19650872	missense	probably damaging	1.00
R2392:Nme8	UTSW	13	19688943	critical splice donor site	probably null
R2436:Nme8	UTSW	13	19677859	missense	probably damaging	1.00
R2901:Nme8	UTSW	13	19675664	missense	probably benign	0.02
R2902:Nme8	UTSW	13	19675664	missense	probably benign	0.02
R4665:Nme8	UTSW	13	19674435	missense	probably damaging	1.00
R4751:Nme8	UTSW	13	19675638	critical splice donor site	probably null
R4785:Nme8	UTSW	13	19657930	missense	probably damaging	0.96
R5101:Nme8	UTSW	13	19690847	critical splice donor site	probably null
R5217:Nme8	UTSW	13	19696691	missense	probably damaging	1.00
R5251:Nme8	UTSW	13	19660625	missense	probably benign	0.33
R5356:Nme8	UTSW	13	19652299	missense	probably damaging	1.00
R5397:Nme8	UTSW	13	19694379	missense	probably damaging	1.00
R5624:Nme8	UTSW	13	19677868	missense	possibly damaging	0.94
R6679:Nme8	UTSW	13	19690970	splice site	probably null
R7040:Nme8	UTSW	13	19694328	missense	probably damaging	1.00
R7111:Nme8	UTSW	13	19675647	missense	probably benign	0.06
R7185:Nme8	UTSW	13	19677883	missense	probably damaging	1.00
R7670:Nme8	UTSW	13	19658829	missense	probably benign	0.01
R7685:Nme8	UTSW	13	19650975	missense	probably benign	0.00
R8108:Nme8	UTSW	13	19650960	missense	probably benign	0.00
R8331:Nme8	UTSW	13	19658866	missense	probably damaging	1.00
R8413:Nme8	UTSW	13	19674519	missense	probably benign	0.01
R8808:Nme8	UTSW	13	19675808	missense	probably damaging	1.00
R9227:Nme8	UTSW	13	19690214	missense	probably benign
R9230:Nme8	UTSW	13	19690214	missense	probably benign
R9422:Nme8	UTSW	13	19675748	missense	probably benign	0.01
Z1088:Nme8	UTSW	13	19688957	missense	possibly damaging	0.82

Posted On

2015-12-18