Mutagenetix > Incidental Mutation

Incidental Mutation 'R4751:Nme8'

357630

Institutional Source

Beutler Lab

Gene Symbol

Nme8

Ensembl Gene

ENSMUSG00000041138

Gene Name

NME/NM23 family member 8

Synonyms

Sptrx-2, 1700056P15Rik, Txndc3

MMRRC Submission

041970-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.137) question?

Stock #

R4751 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

19829248-19881964 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to T at 19859808 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000089358 (fasta)

Gene Model

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

AlphaFold

Q715T0

Predicted Effect

probably null
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 null
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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.4%

Validation Efficiency

95% (124/131)

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: 115 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130023H24Rik	A	T	7: 127,836,258 (GRCm39)	C112S	probably benign	Het
Abca13	G	A	11: 9,227,973 (GRCm39)		probably null	Het
Abca14	A	G	7: 119,911,400 (GRCm39)	E1328G	probably benign	Het
Abca9	T	A	11: 110,021,396 (GRCm39)	I1105F	probably benign	Het
Abr	T	C	11: 76,347,434 (GRCm39)	N396D	possibly damaging	Het
Aftph	A	C	11: 20,677,074 (GRCm39)	C178W	probably damaging	Het
Akr1c14	T	C	13: 4,115,338 (GRCm39)	F89S	possibly damaging	Het
Ank3	C	T	10: 69,822,036 (GRCm39)	A1518V	probably benign	Het
Arfgap2	T	G	2: 91,097,713 (GRCm39)	S143R	probably benign	Het
Aspdh	T	A	7: 44,116,629 (GRCm39)	C107*	probably null	Het
Asphd2	C	A	5: 112,539,612 (GRCm39)	G74W	probably damaging	Het
AU040320	G	A	4: 126,748,259 (GRCm39)		probably null	Het
B3glct	T	A	5: 149,648,867 (GRCm39)		probably null	Het
Bcl9l	A	G	9: 44,418,100 (GRCm39)	K646R	probably damaging	Het
Brat1	T	G	5: 140,704,051 (GRCm39)	L768R	probably damaging	Het
Btbd18	T	A	2: 84,498,265 (GRCm39)	Y634*	probably null	Het
Bub1	T	A	2: 127,665,858 (GRCm39)		probably benign	Het
Carns1	A	T	19: 4,216,417 (GRCm39)	D588E	probably damaging	Het
Cast	T	C	13: 74,894,166 (GRCm39)	K141E	probably damaging	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,619,782 (GRCm39)		probably benign	Het
Chsy3	T	C	18: 59,308,872 (GRCm39)	S42P	possibly damaging	Het
Clca3a1	A	T	3: 144,710,609 (GRCm39)	F865I	possibly damaging	Het
Clec4f	T	A	6: 83,622,264 (GRCm39)	M526L	possibly damaging	Het
Clnk	T	C	5: 38,878,256 (GRCm39)	E301G	probably benign	Het
Colgalt2	T	A	1: 152,365,627 (GRCm39)	I309N	probably benign	Het
Cyp2e1	A	T	7: 140,354,629 (GRCm39)	K326*	probably null	Het
Dagla	T	A	19: 10,227,758 (GRCm39)	T717S	probably benign	Het
Dnajc11	G	A	4: 152,052,999 (GRCm39)	R141H	probably benign	Het
Dst	A	G	1: 34,230,965 (GRCm39)	K2853E	probably benign	Het
Eif4g1	A	G	16: 20,505,265 (GRCm39)	K1208E	possibly damaging	Het
Elane	A	G	10: 79,722,625 (GRCm39)	R48G	probably benign	Het
Fbxo30	T	A	10: 11,165,939 (GRCm39)	N220K	probably benign	Het
Fbxo33	A	T	12: 59,247,714 (GRCm39)		probably benign	Het
Fetub	G	A	16: 22,756,645 (GRCm39)	V169I	probably benign	Het
Gpx6	A	C	13: 21,501,234 (GRCm39)	Q107H	probably damaging	Het
H2bc18	A	T	3: 96,176,467 (GRCm39)		probably benign	Het
Homer3	A	T	8: 70,738,084 (GRCm39)	I19F	probably damaging	Het
Hspa4	C	T	11: 53,175,026 (GRCm39)	V144I	probably benign	Het
Icos	C	T	1: 61,032,876 (GRCm39)	S25L	probably benign	Het
Ifna4	A	G	4: 88,760,185 (GRCm39)	T30A	probably benign	Het
Ino80b	C	T	6: 83,101,731 (GRCm39)	G46D	probably damaging	Het
Kpna2	T	G	11: 106,883,490 (GRCm39)	I100L	possibly damaging	Het
Krt71	C	T	15: 101,643,901 (GRCm39)	G446R	probably damaging	Het
Krtap31-2	A	G	11: 99,827,402 (GRCm39)	N78S	possibly damaging	Het
Lman1	A	G	18: 66,131,505 (GRCm39)	S132P	probably benign	Het
Lmna	T	C	3: 88,393,840 (GRCm39)	Q246R	possibly damaging	Het
Lrp10	T	A	14: 54,706,049 (GRCm39)	V413E	probably damaging	Het
Macf1	A	C	4: 123,365,443 (GRCm39)	I1541S	probably benign	Het
Med24	A	G	11: 98,597,258 (GRCm39)	L874P	probably damaging	Het
Mgll	T	A	6: 88,702,093 (GRCm39)		probably benign	Het
Mrpl37	A	T	4: 106,914,672 (GRCm39)	L364Q	probably damaging	Het
Mrpl47	C	T	3: 32,782,590 (GRCm39)	R209H	probably benign	Het
Muc5ac	T	C	7: 141,371,338 (GRCm39)	F3285L	probably benign	Het
Mylk	A	G	16: 34,699,539 (GRCm39)	R301G	probably benign	Het
Nacad	A	G	11: 6,555,726 (GRCm39)	L8P	unknown	Het
Ncf1	T	A	5: 134,258,399 (GRCm39)	H8L	probably damaging	Het
Ncoa3	T	A	2: 165,911,823 (GRCm39)	M1383K	possibly damaging	Het
Necab2	C	T	8: 120,194,337 (GRCm39)	S271L	probably benign	Het
Nsrp1	T	G	11: 76,967,545 (GRCm39)	T16P	possibly damaging	Het
Obox3	A	T	7: 15,359,617 (GRCm39)		probably null	Het
Or1l8	T	C	2: 36,817,595 (GRCm39)	H177R	probably damaging	Het
Or4c108	A	G	2: 88,803,477 (GRCm39)	C253R	probably damaging	Het
Or4c15	T	A	2: 88,760,258 (GRCm39)	I134F	probably damaging	Het
Or4d6	T	A	19: 12,086,541 (GRCm39)	Y123F	probably damaging	Het
Or52n2b	A	T	7: 104,565,617 (GRCm39)	Y295*	probably null	Het
Or6b2	C	A	1: 92,407,705 (GRCm39)	A213S	probably benign	Het
Osbpl3	C	G	6: 50,277,977 (GRCm39)	E790Q	possibly damaging	Het
Osmr	A	T	15: 6,872,333 (GRCm39)	W254R	probably damaging	Het
Otoa	T	C	7: 120,732,147 (GRCm39)		probably benign	Het
Pagr1a	A	T	7: 126,614,551 (GRCm39)	L218H	probably damaging	Het
Pcdha11	G	A	18: 37,139,997 (GRCm39)	G542D	probably damaging	Het
Pck2	T	A	14: 55,780,018 (GRCm39)	I54N	probably damaging	Het
Ppif	T	C	14: 25,699,923 (GRCm39)	V173A	probably damaging	Het
Ptgs2	T	A	1: 149,979,771 (GRCm39)	L292H	probably damaging	Het
Ptpru	A	G	4: 131,529,897 (GRCm39)	S604P	probably damaging	Het
Qrfpr	T	C	3: 36,236,771 (GRCm39)	H210R	possibly damaging	Het
Rasgrf1	A	G	9: 89,792,171 (GRCm39)	T41A	probably damaging	Het
Rasgrf1	A	G	9: 89,894,919 (GRCm39)	H1113R	probably damaging	Het
Rhoc	T	A	3: 104,699,963 (GRCm39)	I80N	probably damaging	Het
Riok3	A	G	18: 12,287,040 (GRCm39)	N472S	probably benign	Het
Rnf213	A	G	11: 119,336,571 (GRCm39)	Y3314C	probably benign	Het
Shank2	C	T	7: 143,963,205 (GRCm39)	T264I	probably damaging	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Sipa1l1	A	G	12: 82,387,968 (GRCm39)	I65V	probably benign	Het
Slc22a19	T	C	19: 7,668,510 (GRCm39)	K291R	possibly damaging	Het
Slc22a20	T	C	19: 6,030,488 (GRCm39)	I315V	probably benign	Het
Slc44a1	A	T	4: 53,560,973 (GRCm39)	D563V	probably damaging	Het
Smchd1	A	T	17: 71,698,463 (GRCm39)	H1104Q	probably benign	Het
Spcs2	A	T	7: 99,493,976 (GRCm39)		probably null	Het
Speer1e	T	A	5: 11,236,458 (GRCm39)	Y138N	probably damaging	Het
Sptb	T	C	12: 76,673,884 (GRCm39)	E301G	probably benign	Het
Stum	T	C	1: 180,270,234 (GRCm39)	D86G	probably damaging	Het
Sufu	A	T	19: 46,472,088 (GRCm39)	D449V	probably benign	Het
Sun5	T	C	2: 153,707,936 (GRCm39)		probably null	Het
Tbc1d15	T	A	10: 115,038,492 (GRCm39)	I574F	probably damaging	Het
Tert	G	A	13: 73,776,182 (GRCm39)	S311N	possibly damaging	Het
Tiparp	T	C	3: 65,460,225 (GRCm39)	Y507H	probably damaging	Het
Tnk2	T	C	16: 32,498,675 (GRCm39)	C158R	probably damaging	Het
Tpgs1	T	C	10: 79,511,454 (GRCm39)	S199P	possibly damaging	Het
Trdmt1	G	T	2: 13,549,464 (GRCm39)		probably benign	Het
Trp53bp1	T	A	2: 121,058,290 (GRCm39)	D944V	probably damaging	Het
Tsc1	T	A	2: 28,569,093 (GRCm39)	I720N	probably damaging	Het
Ttn	T	C	2: 76,539,949 (GRCm39)	T34346A	probably benign	Het
Ttn	T	C	2: 76,727,925 (GRCm39)		probably benign	Het
Uba7	T	A	9: 107,857,004 (GRCm39)	C686S	possibly damaging	Het
Ush2a	T	A	1: 188,582,284 (GRCm39)	F3782L	probably damaging	Het
Vars2	A	T	17: 35,970,235 (GRCm39)	H745Q	possibly damaging	Het
Vgf	T	A	5: 137,061,255 (GRCm39)	D472E	probably damaging	Het
Vmn2r15	T	C	5: 109,434,620 (GRCm39)	M695V	probably benign	Het
Vps41	A	T	13: 18,995,792 (GRCm39)	D208V	probably damaging	Het
Vta1	C	T	10: 14,531,560 (GRCm39)	A272T	probably benign	Het
Wnk4	G	A	11: 101,167,188 (GRCm39)		probably benign	Het
Zfp507	T	C	7: 35,493,807 (GRCm39)	K412R	probably damaging	Het
Zfp768	A	G	7: 126,943,934 (GRCm39)	F65L	possibly damaging	Het
Zfp956	T	C	6: 47,940,510 (GRCm39)	S290P	probably benign	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
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'- AATGAGGCCAGATTGGGTGC -3'
(R):5'- CGTTTCTATGACAAATGGCCTC -3'

Sequencing Primer
(F):5'- AGCAAGGAAGTTATGCCGTTTC -3'
(R):5'- CTATGACAAATGGCCTCAGCTGTG -3'

Posted On

2015-11-11