Mutagenetix > Incidental Mutation

Incidental Mutation 'R0632:Nme8'

59735

Institutional Source

Beutler Lab

Gene Symbol

Nme8

Ensembl Gene

ENSMUSG00000041138

Gene Name

NME/NM23 family member 8

Synonyms

Sptrx-2, 1700056P15Rik, Txndc3

MMRRC Submission

038821-MU

Accession Numbers

Essential gene?

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

Stock #

R0632 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

19829248-19881964 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 19842206 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 422 (N422K)

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: N422K

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000047052
Gene: ENSMUSG00000041138
AA Change: N422K

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: N422K

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000089358
Gene: ENSMUSG00000041138
AA Change: N422K

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: ENSMUST00000221343

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223286

Predicted Effect

possibly damaging
Transcript: ENSMUST00000223466
AA Change: N183K

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.4%
3x: 99.0%
10x: 97.8%
20x: 96.0%

Validation Efficiency

95% (81/85)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaa1a	T	A	9: 119,176,884 (GRCm39)		probably benign	Het
Adgrg7	T	A	16: 56,562,952 (GRCm39)	T462S	possibly damaging	Het
Akap6	A	T	12: 52,983,931 (GRCm39)	N825I	probably damaging	Het
Ankib1	T	A	5: 3,822,529 (GRCm39)	N59I	probably benign	Het
Anks6	T	C	4: 47,033,167 (GRCm39)	S633G	possibly damaging	Het
Ap4e1	C	A	2: 126,891,200 (GRCm39)	Y522*	probably null	Het
Art5	G	A	7: 101,747,164 (GRCm39)	T205I	probably damaging	Het
Ascc2	T	A	11: 4,599,855 (GRCm39)	L176H	probably damaging	Het
Atp13a5	T	C	16: 29,117,026 (GRCm39)	D529G	probably benign	Het
C2cd4a	T	C	9: 67,738,845 (GRCm39)	E66G	probably benign	Het
C8a	T	C	4: 104,713,689 (GRCm39)	D147G	probably damaging	Het
Ccdc14	T	C	16: 34,542,019 (GRCm39)	V532A	possibly damaging	Het
Ccdc88a	T	A	11: 29,432,749 (GRCm39)		probably benign	Het
Cfap54	C	T	10: 92,720,958 (GRCm39)	E2543K	unknown	Het
Cldn13	C	T	5: 134,943,601 (GRCm39)	E195K	probably benign	Het
Cp	A	G	3: 20,025,246 (GRCm39)	S402G	probably null	Het
Cpa3	T	C	3: 20,279,358 (GRCm39)	T194A	probably benign	Het
Crygf	C	A	1: 65,967,156 (GRCm39)	Y93*	probably null	Het
Ctsh	A	G	9: 89,943,635 (GRCm39)	R87G	possibly damaging	Het
Cyp2t4	A	G	7: 26,857,671 (GRCm39)	D428G	possibly damaging	Het
Dnah17	C	G	11: 117,958,508 (GRCm39)		probably benign	Het
Dnah3	A	G	7: 119,567,128 (GRCm39)	V2366A	probably benign	Het
Dscaml1	A	T	9: 45,643,432 (GRCm39)	I1284F	probably benign	Het
Dsg1c	T	C	18: 20,405,403 (GRCm39)		probably benign	Het
Dst	G	T	1: 34,310,494 (GRCm39)	R4098L	probably damaging	Het
Efhb	A	G	17: 53,720,487 (GRCm39)		probably benign	Het
Epha7	A	T	4: 28,821,104 (GRCm39)	I90F	probably damaging	Het
Fam171a2	T	A	11: 102,328,707 (GRCm39)	D684V	probably damaging	Het
Fan1	A	G	7: 64,012,947 (GRCm39)	V665A	possibly damaging	Het
Fbn2	A	G	18: 58,170,819 (GRCm39)	C2191R	probably damaging	Het
Fkbp3	G	A	12: 65,120,692 (GRCm39)	A2V	probably benign	Het
G6pd2	A	G	5: 61,967,514 (GRCm39)	N430D	probably benign	Het
Gm13547	T	A	2: 29,651,596 (GRCm39)	D7E	possibly damaging	Het
H4c9	G	T	13: 22,225,197 (GRCm39)	Y99*	probably null	Het
Hdac5	A	T	11: 102,096,638 (GRCm39)	D260E	probably damaging	Het
Hsf2bp	T	C	17: 32,232,320 (GRCm39)	E142G	probably damaging	Het
Igf1r	C	T	7: 67,814,903 (GRCm39)	T268I	probably damaging	Het
Inava	T	C	1: 136,155,356 (GRCm39)	D83G	probably benign	Het
Kcne3	C	T	7: 99,833,646 (GRCm39)	R88C	probably damaging	Het
Klk1b9	G	T	7: 43,628,796 (GRCm39)	G100V	possibly damaging	Het
Kmt2d	G	A	15: 98,751,462 (GRCm39)		probably benign	Het
Lama1	C	T	17: 68,059,363 (GRCm39)		probably benign	Het
Lcp2	C	T	11: 34,032,426 (GRCm39)	P335S	possibly damaging	Het
Lrrk2	T	A	15: 91,680,231 (GRCm39)	N2047K	probably damaging	Het
Mcub	T	C	3: 129,712,375 (GRCm39)	M167V	probably benign	Het
Mia2	T	C	12: 59,182,929 (GRCm39)	L36P	probably damaging	Het
Mmp13	G	A	9: 7,274,032 (GRCm39)	G169R	probably damaging	Het
Mmp13	A	T	9: 7,282,077 (GRCm39)	I460F	possibly damaging	Het
Msh4	A	G	3: 153,602,532 (GRCm39)	I232T	probably damaging	Het
Msra	T	A	14: 64,447,981 (GRCm39)	M145L	probably benign	Het
Myo7a	A	T	7: 97,761,357 (GRCm39)		probably benign	Het
Nol6	A	T	4: 41,121,115 (GRCm39)	F353I	probably damaging	Het
Nphp3	A	G	9: 103,895,473 (GRCm39)	K384E	probably damaging	Het
Or51h5	C	T	7: 102,577,811 (GRCm39)		probably null	Het
Or52e15	A	G	7: 104,645,910 (GRCm39)	I67T	probably benign	Het
Or52h7	A	G	7: 104,213,544 (GRCm39)	I39V	probably benign	Het
Phox2b	T	G	5: 67,253,557 (GRCm39)		probably benign	Het
Plec	A	T	15: 76,057,611 (GRCm39)	S4131T	probably damaging	Het
Pptc7	G	A	5: 122,451,654 (GRCm39)		probably benign	Het
Pramel31	G	A	4: 144,090,352 (GRCm39)	C464Y	probably damaging	Het
Prpf40b	A	G	15: 99,214,170 (GRCm39)	E810G	probably benign	Het
Ptprc	C	T	1: 138,001,348 (GRCm39)	V965I	probably benign	Het
Pum1	T	A	4: 130,455,415 (GRCm39)	M180K	probably benign	Het
Ranbp3	T	C	17: 57,009,896 (GRCm39)		probably benign	Het
Rasgrf2	A	G	13: 92,120,393 (GRCm39)	S787P	probably benign	Het
Rnf19b	T	A	4: 128,967,344 (GRCm39)	N294K	probably damaging	Het
Samd3	A	T	10: 26,120,393 (GRCm39)	H156L	possibly damaging	Het
Serpinb6c	C	T	13: 34,064,014 (GRCm39)	R347Q	possibly damaging	Het
Slc36a3	A	G	11: 55,015,906 (GRCm39)	I416T	probably damaging	Het
Slc4a4	T	A	5: 89,277,500 (GRCm39)	F279Y	probably damaging	Het
Slc6a2	T	A	8: 93,719,429 (GRCm39)		probably benign	Het
Snrnp40	C	G	4: 130,271,836 (GRCm39)		probably null	Het
Tab2	A	G	10: 7,795,565 (GRCm39)	S232P	probably benign	Het
Tacc2	A	T	7: 130,227,325 (GRCm39)	K1356*	probably null	Het
Tmem87a	A	G	2: 120,190,023 (GRCm39)	S544P	probably damaging	Het
Trim52	T	A	14: 106,344,401 (GRCm39)	C20S	probably damaging	Het
Usp38	A	T	8: 81,740,779 (GRCm39)	V96E	probably benign	Het
Vmn2r59	T	C	7: 41,708,308 (GRCm39)	Y33C	probably damaging	Het
Vsig10l	T	G	7: 43,113,561 (GRCm39)	V171G	probably damaging	Het
Zfp957	T	A	14: 79,450,360 (GRCm39)	I480F	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
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
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'- GGGGAACATCTCTCTGTAAAGGGAATCA -3'
(R):5'- CTCCGAAAGGGCATAGTATATCCAGTCA -3'

Sequencing Primer
(F):5'- TCTCTGTAAAGGGAATCAAACAGAAG -3'
(R):5'- CAATCAGGAATAGATGCTGTTGC -3'

Posted On

2013-07-11