Mutagenetix > Incidental Mutation

Incidental Mutation 'R9422:Nme8'

712401

Institutional Source

Beutler Lab

Gene Symbol

Nme8

Ensembl Gene

ENSMUSG00000041138

Gene Name

NME/NM23 family member 8

Synonyms

Sptrx-2, 1700056P15Rik, Txndc3

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.127) question?

Stock #

R9422 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

19645078-19697794 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 19675748 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 234 (V234A)

Ref Sequence

ENSEMBL: ENSMUSP00000089358 (fasta)

Gene Model

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

AlphaFold

Q715T0

Predicted Effect

probably benign
Transcript: ENSMUST00000039340
AA Change: V234A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000047052
Gene: ENSMUSG00000041138
AA Change: V234A

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
AA Change: V234A

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000089358
Gene: ENSMUSG00000041138
AA Change: V234A

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

probably benign
Transcript: ENSMUST00000223466

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

96% (55/57)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	G	A	16: 4,849,289	V209I		Het
Adamts18	T	A	8: 113,775,278	Y317F	probably damaging	Het
Adgrg6	C	T	10: 14,426,996	R863H	probably damaging	Het
Aipl1	C	T	11: 72,037,427	G11D	probably damaging	Het
Ank2	C	A	3: 127,096,856	K55N	unknown	Het
B3galnt2	A	G	13: 13,975,551	T160A	probably benign	Het
Becn1	C	A	11: 101,302,006		probably benign	Het
Ccdc151	T	A	9: 22,002,332	H48L	possibly damaging	Het
Ccdc57	T	C	11: 120,873,618	N777S	possibly damaging	Het
Cd302	T	C	2: 60,252,353	Y209C	probably damaging	Het
Cfap69	A	G	5: 5,649,851	V63A	probably benign	Het
Clasp1	T	A	1: 118,462,527	I147N	possibly damaging	Het
Cmtm3	A	T	8: 104,340,726		probably benign	Het
Cmtm3	G	T	8: 104,340,727		probably benign	Het
Col15a1	A	T	4: 47,293,364		probably null	Het
Csn3	A	G	5: 87,930,013	N126S	probably benign	Het
Dcp2	C	T	18: 44,405,294	R173C	probably damaging	Het
Dctn1	T	A	6: 83,193,709	H729Q	possibly damaging	Het
Dopey1	C	T	9: 86,543,040	H2138Y	probably damaging	Het
Fbxo2	T	C	4: 148,164,159	L36P	unknown	Het
Gm13088	T	A	4: 143,656,412	K79M	probably damaging	Het
Gzmg	T	A	14: 56,158,355	Y49F	probably benign	Het
Hist1h2bb	A	G	13: 23,746,957	I55V	possibly damaging	Het
Hivep1	A	G	13: 42,159,737	T1818A	probably benign	Het
Ipmk	T	C	10: 71,376,720	S171P	possibly damaging	Het
Milr1	T	A	11: 106,766,979	Y239N	probably damaging	Het
Muc16	T	C	9: 18,641,806	N4397S	probably benign	Het
Nell1	C	A	7: 50,062,639	S69*	probably null	Het
Notch2	A	G	3: 98,147,352	S2444G	probably damaging	Het
Olfr501-ps1	A	T	7: 108,508,948	K297N	unknown	Het
Olfr855	T	A	9: 19,584,672	I45K	probably damaging	Het
Pex5l	T	C	3: 33,082,252		probably benign	Het
Pgm3	A	T	9: 86,561,885	L322H	probably damaging	Het
Plxna2	T	A	1: 194,644,422	F221L	probably damaging	Het
Prkaa2	A	G	4: 105,051,998	I83T	probably benign	Het
R3hdml	A	G	2: 163,492,606	T39A	probably benign	Het
Ralgds	A	G	2: 28,545,172	M447V	probably benign	Het
Rgs2	T	C	1: 144,003,045	D40G	probably damaging	Het
Robo3	T	C	9: 37,418,493	M1176V	probably benign	Het
Rpap1	G	A	2: 119,783,038		probably benign	Het
Slc26a8	T	C	17: 28,638,586	D861G	possibly damaging	Het
Slc4a8	A	T	15: 100,800,588	I705F	probably benign	Het
Slco3a1	C	T	7: 74,297,248	V576I	probably damaging	Het
Socs7	A	G	11: 97,363,147	D169G	possibly damaging	Het
Tanc1	T	C	2: 59,807,589	V878A	probably benign	Het
Thop1	C	T	10: 81,080,167	R395W	probably damaging	Het
Tpp2	T	A	1: 43,978,737	H765Q	probably benign	Het
Ttc37	A	T	13: 76,130,328		probably benign	Het
Vipr1	G	A	9: 121,642,927		probably null	Het
Vmn1r233	T	A	17: 20,993,807	M294L	possibly damaging	Het
Vmn1r27	T	C	6: 58,215,882	T46A	probably benign	Het
Vmn2r28	A	G	7: 5,480,748	S818P	probably damaging	Het
Vmn2r97	T	A	17: 18,929,071	N240K	probably benign	Het
Zfhx3	C	T	8: 108,704,218		probably benign	Het
Zfp667	A	G	7: 6,305,322	M330V	probably benign	Het
Zhx1	T	C	15: 58,052,675	Y725C	probably damaging	Het
Zhx3	C	T	2: 160,782,100	S49N	probably benign	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
IGL02807:Nme8	APN	13	19675831	unclassified	probably benign
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
Z1088:Nme8	UTSW	13	19688957	missense	possibly damaging	0.82

Predicted Primers

PCR Primer
(F):5'- ACATTAGGTTTTGAGACATCTGAGC -3'
(R):5'- CATGTGCTGATGACTACAAAAGGG -3'

Sequencing Primer
(F):5'- CATCTGAGCATCATATGTCATCAC -3'
(R):5'- CTACAAAAGGGGAGATTTCACTG -3'

Posted On

2022-05-16