Mutagenetix > Incidental Mutation

Incidental Mutation 'R9230:Nme8'

700190

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: 0.112) question?

Stock #

R9230 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

19829248-19881964 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 19874384 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 139 (I139L)

Ref Sequence

ENSEMBL: ENSMUSP00000089358 (fasta)

Gene Model

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

AlphaFold

Q715T0

Predicted Effect

probably benign
Transcript: ENSMUST00000039340
AA Change: I139L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000047052
Gene: ENSMUSG00000041138
AA Change: I139L

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: I139L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000089358
Gene: ENSMUSG00000041138
AA Change: I139L

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (68/68)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adarb1	A	T	10: 77,157,626 (GRCm39)	F274I	probably damaging	Het
Aen	T	A	7: 78,552,107 (GRCm39)	D22E	probably damaging	Het
Appl1	T	C	14: 26,645,692 (GRCm39)	E706G	unknown	Het
Arhgap21	T	C	2: 20,860,469 (GRCm39)	T1313A	possibly damaging	Het
Armc2	T	C	10: 41,823,935 (GRCm39)	Y511C	probably damaging	Het
Bsn	T	C	9: 107,989,459 (GRCm39)	T2098A	probably damaging	Het
Cacna1h	T	C	17: 25,599,856 (GRCm39)	Y1659C	probably damaging	Het
Catsperb	T	C	12: 101,516,053 (GRCm39)	I563T	probably benign	Het
Cblif	G	A	19: 11,737,748 (GRCm39)	W386*	probably null	Het
Cd180	TA	TAA	13: 102,841,514 (GRCm39)		probably null	Het
Cd55b	A	T	1: 130,350,619 (GRCm39)	L26*	probably null	Het
Cdc42bpa	A	G	1: 179,933,638 (GRCm39)	N759S	probably benign	Het
Chrm3	C	A	13: 9,928,479 (GRCm39)	V186L	probably benign	Het
Clrn2	A	G	5: 45,621,283 (GRCm39)	T226A	probably damaging	Het
Col3a1	C	T	1: 45,383,138 (GRCm39)	P1071S	unknown	Het
Csgalnact2	A	G	6: 118,103,212 (GRCm39)	L250P	probably damaging	Het
Cyp4a31	G	T	4: 115,428,281 (GRCm39)	E326*	probably null	Het
Def8	A	G	8: 124,186,317 (GRCm39)	E352G	probably benign	Het
Dmbt1	A	G	7: 130,639,642 (GRCm39)	D60G	probably benign	Het
Dock3	A	G	9: 106,807,223 (GRCm39)	L1368P	probably damaging	Het
Dytn	A	T	1: 63,686,611 (GRCm39)	V353D	probably benign	Het
Egfem1	G	A	3: 29,411,317 (GRCm39)	E155K	probably benign	Het
Eif3m	A	T	2: 104,831,705 (GRCm39)	M285K	probably damaging	Het
Fam135b	T	C	15: 71,335,856 (GRCm39)	K446R	probably benign	Het
Fbxo22	T	C	9: 55,116,442 (GRCm39)	L36P	probably damaging	Het
Frmd4a	T	C	2: 4,612,844 (GRCm39)	S1025P	possibly damaging	Het
Gja8	C	T	3: 96,826,664 (GRCm39)	V333M	possibly damaging	Het
Glis1	T	C	4: 107,425,327 (GRCm39)	S313P	probably benign	Het
Grid2ip	G	A	5: 143,359,194 (GRCm39)	R270Q	probably damaging	Het
Hps4	G	A	5: 112,525,905 (GRCm39)	S642N	possibly damaging	Het
Hspa4	T	C	11: 53,171,466 (GRCm39)	E246G	probably benign	Het
Ibtk	A	G	9: 85,585,702 (GRCm39)		probably null	Het
Ifit1	A	G	19: 34,625,236 (GRCm39)	E124G	possibly damaging	Het
Ifna14	T	C	4: 88,489,752 (GRCm39)	D95G	probably benign	Het
Igsf10	G	A	3: 59,243,843 (GRCm39)	R164W	probably damaging	Het
Ilkap	A	C	1: 91,314,937 (GRCm39)	I142S	probably benign	Het
Insyn2a	A	T	7: 134,520,439 (GRCm39)	Y30*	probably null	Het
Kctd14	C	G	7: 97,104,104 (GRCm39)	P53R	unknown	Het
Kndc1	A	T	7: 139,500,600 (GRCm39)	D655V	probably damaging	Het
Krt1c	A	C	15: 101,725,948 (GRCm39)	S197A	probably benign	Het
Lpin1	A	T	12: 16,588,483 (GRCm39)	S902R	unknown	Het
Mapk13	T	C	17: 28,994,532 (GRCm39)	I141T	probably damaging	Het
Micall2	A	G	5: 139,701,827 (GRCm39)	V472A	unknown	Het
Mmp15	T	C	8: 96,092,959 (GRCm39)	F113L	probably benign	Het
Msantd5f6	C	T	4: 73,319,685 (GRCm39)	A264T	probably benign	Het
Msh2	T	G	17: 88,026,717 (GRCm39)	S738A	probably benign	Het
Muc20	T	G	16: 32,613,584 (GRCm39)	T598P	probably damaging	Het
Myo1f	T	C	17: 33,795,424 (GRCm39)	V53A	probably damaging	Het
Ncf1	A	T	5: 134,250,718 (GRCm39)	N367K	probably benign	Het
Odam	T	C	5: 88,034,457 (GRCm39)	F46L	probably benign	Het
Or51a25	C	A	7: 102,372,795 (GRCm39)	V301F	possibly damaging	Het
Or7a42	G	A	10: 78,791,929 (GRCm39)	D297N	possibly damaging	Het
Pcare	A	G	17: 72,057,217 (GRCm39)	L820P	probably damaging	Het
Pi4ka	A	G	16: 17,099,788 (GRCm39)	I1945T		Het
Rbmyf9	T	G	Y: 3,774,819 (GRCm39)	D5E	probably damaging	Het
Rell1	T	C	5: 64,097,105 (GRCm39)		probably benign	Het
Ripk3	A	G	14: 56,023,303 (GRCm39)	F134S	probably benign	Het
Sclt1	A	T	3: 41,665,631 (GRCm39)	W146R	probably benign	Het
Slc18a2	T	C	19: 59,261,647 (GRCm39)	M178T	probably benign	Het
Slc24a5	G	T	2: 124,922,568 (GRCm39)	G110V	probably damaging	Het
Slc38a10	T	A	11: 119,996,781 (GRCm39)	D772V	probably benign	Het
Slc9c1	T	C	16: 45,398,275 (GRCm39)	L680P	possibly damaging	Het
Tll2	T	A	19: 41,093,436 (GRCm39)	Y477F	probably benign	Het
Tmco1	C	T	1: 167,136,132 (GRCm39)		probably benign	Het
Tnrc18	G	T	5: 142,773,392 (GRCm39)	A479D		Het
Topaz1	T	A	9: 122,596,097 (GRCm39)	M956K	probably benign	Het
Vmn2r56	T	A	7: 12,444,237 (GRCm39)	D465V	possibly damaging	Het
Xndc1	T	A	7: 101,722,476 (GRCm39)	V47E	probably damaging	Het

Other mutations in Nme8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01984:Nme8	APN	13	19,873,150 (GRCm39)	missense	probably damaging	1.00
IGL02272:Nme8	APN	13	19,842,996 (GRCm39)	missense	probably damaging	0.99
IGL02344:Nme8	APN	13	19,858,574 (GRCm39)	missense	possibly damaging	0.94
IGL02395:Nme8	APN	13	19,862,078 (GRCm39)	missense	possibly damaging	0.64
IGL02621:Nme8	APN	13	19,859,818 (GRCm39)	missense	probably damaging	1.00
IGL02645:Nme8	APN	13	19,844,755 (GRCm39)	missense	probably damaging	1.00
IGL02807:Nme8	APN	13	19,860,001 (GRCm39)	unclassified	probably benign
IGL03059:Nme8	APN	13	19,836,414 (GRCm39)	missense	possibly damaging	0.92
IGL03288:Nme8	APN	13	19,880,776 (GRCm39)	missense	possibly damaging	0.94
IGL03323:Nme8	APN	13	19,873,120 (GRCm39)	missense	probably benign	0.06
R0139:Nme8	UTSW	13	19,862,018 (GRCm39)	missense	probably benign	0.19
R0616:Nme8	UTSW	13	19,875,029 (GRCm39)	missense	probably benign	0.00
R0632:Nme8	UTSW	13	19,842,206 (GRCm39)	missense	probably damaging	0.96
R1233:Nme8	UTSW	13	19,844,682 (GRCm39)	missense	possibly damaging	0.71
R1288:Nme8	UTSW	13	19,858,619 (GRCm39)	missense	possibly damaging	0.87
R1305:Nme8	UTSW	13	19,881,077 (GRCm39)	missense	possibly damaging	0.90
R1773:Nme8	UTSW	13	19,881,206 (GRCm39)	start codon destroyed	probably damaging	1.00
R1942:Nme8	UTSW	13	19,859,978 (GRCm39)	missense	probably damaging	1.00
R1970:Nme8	UTSW	13	19,836,492 (GRCm39)	missense	probably damaging	1.00
R2012:Nme8	UTSW	13	19,881,053 (GRCm39)	missense	probably damaging	1.00
R2093:Nme8	UTSW	13	19,835,042 (GRCm39)	missense	probably damaging	1.00
R2392:Nme8	UTSW	13	19,873,113 (GRCm39)	critical splice donor site	probably null
R2436:Nme8	UTSW	13	19,862,029 (GRCm39)	missense	probably damaging	1.00
R2901:Nme8	UTSW	13	19,859,834 (GRCm39)	missense	probably benign	0.02
R2902:Nme8	UTSW	13	19,859,834 (GRCm39)	missense	probably benign	0.02
R4665:Nme8	UTSW	13	19,858,605 (GRCm39)	missense	probably damaging	1.00
R4751:Nme8	UTSW	13	19,859,808 (GRCm39)	critical splice donor site	probably null
R4785:Nme8	UTSW	13	19,842,100 (GRCm39)	missense	probably damaging	0.96
R5101:Nme8	UTSW	13	19,875,017 (GRCm39)	critical splice donor site	probably null
R5217:Nme8	UTSW	13	19,880,861 (GRCm39)	missense	probably damaging	1.00
R5251:Nme8	UTSW	13	19,844,795 (GRCm39)	missense	probably benign	0.33
R5356:Nme8	UTSW	13	19,836,469 (GRCm39)	missense	probably damaging	1.00
R5397:Nme8	UTSW	13	19,878,549 (GRCm39)	missense	probably damaging	1.00
R5624:Nme8	UTSW	13	19,862,038 (GRCm39)	missense	possibly damaging	0.94
R6679:Nme8	UTSW	13	19,875,140 (GRCm39)	splice site	probably null
R7040:Nme8	UTSW	13	19,878,498 (GRCm39)	missense	probably damaging	1.00
R7111:Nme8	UTSW	13	19,859,817 (GRCm39)	missense	probably benign	0.06
R7185:Nme8	UTSW	13	19,862,053 (GRCm39)	missense	probably damaging	1.00
R7670:Nme8	UTSW	13	19,842,999 (GRCm39)	missense	probably benign	0.01
R7685:Nme8	UTSW	13	19,835,145 (GRCm39)	missense	probably benign	0.00
R8108:Nme8	UTSW	13	19,835,130 (GRCm39)	missense	probably benign	0.00
R8331:Nme8	UTSW	13	19,843,036 (GRCm39)	missense	probably damaging	1.00
R8413:Nme8	UTSW	13	19,858,689 (GRCm39)	missense	probably benign	0.01
R8808:Nme8	UTSW	13	19,859,978 (GRCm39)	missense	probably damaging	1.00
R9227:Nme8	UTSW	13	19,874,384 (GRCm39)	missense	probably benign
R9422:Nme8	UTSW	13	19,859,918 (GRCm39)	missense	probably benign	0.01
Z1088:Nme8	UTSW	13	19,873,127 (GRCm39)	missense	possibly damaging	0.82

Predicted Primers

PCR Primer
(F):5'- GCAGTGTCTGAGCCATTGTG -3'
(R):5'- TCTGACACAAGAGCCTTCGC -3'

Sequencing Primer
(F):5'- CCATTGTGAATTGGAACAGCCCTG -3'
(R):5'- ACATTCTCTAACTAGCAAGGTGC -3'

Posted On

2022-02-07