Mutagenetix > Incidental Mutation

Incidental Mutation 'R1942:Nme8'

216315

Institutional Source

Beutler Lab

Gene Symbol

Nme8

Ensembl Gene

ENSMUSG00000041138

Gene Name

NME/NM23 family member 8

Synonyms

Sptrx-2, 1700056P15Rik, Txndc3

MMRRC Submission

039960-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.112) question?

Stock #

R1942 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

19829248-19881964 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 19859978 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 214 (V214A)

Ref Sequence

ENSEMBL: ENSMUSP00000089358 (fasta)

Gene Model

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

AlphaFold

Q715T0

Predicted Effect

probably damaging
Transcript: ENSMUST00000039340
AA Change: V214A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000047052
Gene: ENSMUSG00000041138
AA Change: V214A

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 damaging
Transcript: ENSMUST00000091763
AA Change: V214A

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

SMART Domains

Protein: ENSMUSP00000089358
Gene: ENSMUSG00000041138
AA Change: V214A

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

Meta Mutation Damage Score

0.4005

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.7%

Validation Efficiency

100% (75/75)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	A	T	15: 81,949,625 (GRCm39)	Y1174F	probably damaging	Het
Ahnak	A	G	19: 8,992,447 (GRCm39)	E4577G	probably damaging	Het
Anapc4	T	C	5: 53,004,056 (GRCm39)	V291A	probably benign	Het
Apba2	A	G	7: 64,345,218 (GRCm39)	E136G	possibly damaging	Het
Arhgap20	C	A	9: 51,742,998 (GRCm39)	Q279K	probably benign	Het
B3galnt1	A	T	3: 69,483,258 (GRCm39)	M1K	probably null	Het
C4bp	C	A	1: 130,583,804 (GRCm39)		probably benign	Het
Catsperg1	G	A	7: 28,906,232 (GRCm39)	T157I	possibly damaging	Het
Cfap90	A	C	13: 68,761,090 (GRCm39)	I171L	probably benign	Het
Chrm1	T	A	19: 8,655,637 (GRCm39)	M114K	probably damaging	Het
Clasp1	A	G	1: 118,429,078 (GRCm39)	E329G	possibly damaging	Het
Clrn2	A	C	5: 45,611,337 (GRCm39)	Y62S	probably benign	Het
Col12a1	T	G	9: 79,542,748 (GRCm39)	D2339A	probably damaging	Het
Copa	T	A	1: 171,939,455 (GRCm39)	L564Q	probably damaging	Het
Cpeb2	C	A	5: 43,392,596 (GRCm39)		probably benign	Het
Dhx57	A	T	17: 80,572,573 (GRCm39)	M647K	probably damaging	Het
Diaph3	C	T	14: 87,378,556 (GRCm39)		probably benign	Het
Eomes	A	G	9: 118,313,716 (GRCm39)	D587G	probably benign	Het
Gm5142	T	A	14: 59,416,156 (GRCm39)	M1L	probably benign	Het
Gnl2	A	G	4: 124,923,957 (GRCm39)	I12V	probably benign	Het
Gprin1	C	T	13: 54,887,752 (GRCm39)	C174Y	probably benign	Het
Grin2b	A	T	6: 135,709,730 (GRCm39)	V1272E	possibly damaging	Het
Hdac9	A	G	12: 34,479,544 (GRCm39)	L227S	probably damaging	Het
Helz	T	A	11: 107,493,318 (GRCm39)	L247Q	probably benign	Het
Hs6st1	T	C	1: 36,107,803 (GRCm39)	V22A	probably benign	Het
Hspg2	C	A	4: 137,269,863 (GRCm39)	A2304E	possibly damaging	Het
Htr3a	T	C	9: 48,819,911 (GRCm39)	Y73C	probably damaging	Het
Il1rap	A	C	16: 26,541,205 (GRCm39)	E482A	probably damaging	Het
Itsn2	T	A	12: 4,689,670 (GRCm39)	L581*	probably null	Het
Msmb	A	G	14: 31,870,034 (GRCm39)	E2G	probably benign	Het
Muc19	T	C	15: 91,776,666 (GRCm39)		noncoding transcript	Het
Muc4	A	C	16: 32,569,460 (GRCm39)	L173F	probably damaging	Het
Muc5b	A	T	7: 141,411,421 (GRCm39)	S1456C	unknown	Het
Mylip	A	T	13: 45,560,172 (GRCm39)	I203F	probably damaging	Het
Nckap5	A	T	1: 125,952,039 (GRCm39)	D1504E	probably damaging	Het
Neil1	C	G	9: 57,053,891 (GRCm39)	R143P	probably benign	Het
Nlrp2	T	A	7: 5,325,447 (GRCm39)	T742S	probably damaging	Het
Nsun7	C	T	5: 66,441,588 (GRCm39)	T419I	probably benign	Het
Nup210l	G	A	3: 90,058,544 (GRCm39)	E648K	probably benign	Het
Or10g6	T	A	9: 39,934,031 (GRCm39)	L114H	probably damaging	Het
Or10g6	T	C	9: 39,934,048 (GRCm39)	Y120H	probably damaging	Het
Or2y1c	T	C	11: 49,360,981 (GRCm39)	M1T	probably null	Het
Or8s2	A	G	15: 98,276,445 (GRCm39)	L182P	probably damaging	Het
Parp11	A	C	6: 127,447,663 (GRCm39)		probably null	Het
Pomgnt1	G	T	4: 116,012,472 (GRCm39)		probably null	Het
Ppp1r14c	T	C	10: 3,413,417 (GRCm39)	I150T	probably damaging	Het
Psd4	A	G	2: 24,295,805 (GRCm39)	E908G	probably damaging	Het
Psmd6	A	T	14: 14,116,442 (GRCm38)	V91E	probably damaging	Het
Ptk2b	A	T	14: 66,406,830 (GRCm39)	V634D	probably damaging	Het
Rapgef6	A	G	11: 54,548,089 (GRCm39)	I753V	possibly damaging	Het
Rbm45	G	A	2: 76,205,823 (GRCm39)		probably null	Het
Ric1	A	G	19: 29,578,416 (GRCm39)		probably benign	Het
Sh3rf2	A	G	18: 42,282,689 (GRCm39)	K416E	probably damaging	Het
Six5	C	T	7: 18,830,858 (GRCm39)	A495V	possibly damaging	Het
Slc27a6	T	A	18: 58,689,870 (GRCm39)	M112K	probably damaging	Het
Slc5a4a	T	C	10: 75,983,422 (GRCm39)	S20P	unknown	Het
Smg1	A	G	7: 117,757,326 (GRCm39)		probably benign	Het
Sntb2	G	A	8: 107,737,984 (GRCm39)	A511T	probably damaging	Het
Stk31	A	T	6: 49,416,061 (GRCm39)	N622I	probably damaging	Het
Sulf1	T	C	1: 12,918,397 (GRCm39)	F38S	probably damaging	Het
Szt2	G	T	4: 118,249,817 (GRCm39)	T521K	probably benign	Het
Terf1	G	T	1: 15,876,038 (GRCm39)	R46I	probably benign	Het
Tmem245	A	G	4: 56,923,511 (GRCm39)		probably benign	Het
Tmigd1	T	C	11: 76,804,905 (GRCm39)		probably null	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Umod	A	G	7: 119,076,155 (GRCm39)	Y204H	probably damaging	Het
Vcan	T	A	13: 89,851,543 (GRCm39)	Q1139L	probably benign	Het
Vmn1r85	T	A	7: 12,818,668 (GRCm39)	T159S	possibly damaging	Het
Vmn2r103	T	A	17: 20,032,562 (GRCm39)	S779T	probably benign	Het
Vmn2r27	C	T	6: 124,200,722 (GRCm39)	A412T	probably damaging	Het
Zc3h12d	A	C	10: 7,729,077 (GRCm39)	D147A	probably damaging	Het
Zfp800	A	T	6: 28,243,272 (GRCm39)	D564E	probably benign	Het
Zfp932	A	G	5: 110,154,853 (GRCm39)	E17G	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
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
R9230: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'- AAGGGCTTGTCTTAGCTACCTG -3'
(R):5'- CCTGGATGTATATGTCTACTGTGC -3'

Sequencing Primer
(F):5'- GCTTGTCTTAGCTACCTGTCCCG -3'
(R):5'- CTGTGCAAAAATGTCCCTGG -3'

Posted On

2014-08-01