Mutagenetix > Incidental Mutation

Incidental Mutation 'R5010:Nme5'

390462

Institutional Source

Beutler Lab

Gene Symbol

Nme5

Ensembl Gene

ENSMUSG00000035984

Gene Name

NME/NM23 family member 5

Synonyms

non-metastatic cells 5, protein expressed in (nucleoside-diphosphate kinase), Nm23-M5, 1700019D05Rik

MMRRC Submission

042601-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5010 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34695687-34712168 bp(-) (GRCm39)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

A to C at 34711738 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Arginine at position 1 (M1R)

Ref Sequence

ENSEMBL: ENSMUSP00000117443 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056932] [ENSMUST00000079287] [ENSMUST00000129566] [ENSMUST00000134875] [ENSMUST00000154342] [ENSMUST00000155114]

AlphaFold

Q99MH5

Predicted Effect

probably benign
Transcript: ENSMUST00000056932

SMART Domains

Protein: ENSMUSP00000054234
Gene: ENSMUSG00000049357

Domain	Start	End	E-Value	Type
low complexity region	30	42	N/A	INTRINSIC
low complexity region	47	65	N/A	INTRINSIC
low complexity region	77	86	N/A	INTRINSIC
BROMO	153	261	8.66e-35	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000079287
AA Change: M1R

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000078269
Gene: ENSMUSG00000035984
AA Change: M1R

Domain	Start	End	E-Value	Type
NDK	12	150	1.9e-62	SMART
Pfam:Dpy-30	156	197	7.7e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000129566

SMART Domains

Protein: ENSMUSP00000117272
Gene: ENSMUSG00000049357

Domain	Start	End	E-Value	Type
Blast:BROMO	20	197	5e-25	BLAST
SCOP:d1f68a_	161	204	1e-7	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000134875
AA Change: M1R

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000118213
Gene: ENSMUSG00000035984
AA Change: M1R

Domain	Start	End	E-Value	Type
NDK	12	113	2.91e-24	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000154342
AA Change: M1R

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000117443
Gene: ENSMUSG00000035984
AA Change: M1R

Domain	Start	End	E-Value	Type
NDK	12	113	2.91e-24	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000155114
AA Change: M1R

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

Meta Mutation Damage Score

0.9493

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.6%

Validation Efficiency

98% (65/66)

MGI Phenotype

PHENOTYPE: Homozygous mice exhibit hydrocephaly and male spermatogenesis defects. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810065E05Rik	C	T	11: 58,313,630 (GRCm39)	A86V	possibly damaging	Het
9430097D07Rik	A	G	2: 32,464,440 (GRCm39)		probably benign	Het
Actr5	T	A	2: 158,477,283 (GRCm39)	D411E	probably benign	Het
Ang5	A	G	14: 44,200,302 (GRCm39)	D122G	probably benign	Het
Atg9a	A	T	1: 75,162,704 (GRCm39)		probably null	Het
Cracd	G	C	5: 76,805,681 (GRCm39)		probably benign	Het
Dctd	C	T	8: 48,590,449 (GRCm39)		probably benign	Het
Ddx11	G	A	17: 66,454,717 (GRCm39)	V642M	possibly damaging	Het
Dis3l2	G	A	1: 86,688,043 (GRCm39)	V100I	probably benign	Het
Echdc2	T	C	4: 108,029,328 (GRCm39)	V111A	probably benign	Het
Egr1	A	G	18: 34,996,711 (GRCm39)	T498A	probably benign	Het
Exosc3	T	C	4: 45,317,702 (GRCm39)	K200R	possibly damaging	Het
Exosc8	T	C	3: 54,636,644 (GRCm39)	D229G	probably benign	Het
Ext1	T	A	15: 52,955,808 (GRCm39)	I430F	probably damaging	Het
Fbxw22	T	C	9: 109,232,492 (GRCm39)	N31S	probably benign	Het
Gja8	T	C	3: 96,827,165 (GRCm39)	T166A	probably benign	Het
Gm21814	T	A	6: 149,485,116 (GRCm39)		noncoding transcript	Het
Gm21915	T	A	9: 40,581,944 (GRCm39)	H12Q	probably benign	Het
Hgsnat	G	A	8: 26,437,988 (GRCm39)	R527*	probably null	Het
Iqgap2	A	G	13: 95,810,251 (GRCm39)	F731S	probably benign	Het
Jchain	T	C	5: 88,670,364 (GRCm39)	H85R	probably damaging	Het
Kcnb2	T	C	1: 15,383,186 (GRCm39)	C171R	probably benign	Het
Kcnk3	C	A	5: 30,780,149 (GRCm39)	R400S	possibly damaging	Het
Klhl28	C	T	12: 65,004,001 (GRCm39)	E171K	probably damaging	Het
Lrrfip2	T	C	9: 111,053,040 (GRCm39)	I375T	possibly damaging	Het
Mccc1	T	C	3: 36,033,166 (GRCm39)	N326S	probably benign	Het
Med13l	T	C	5: 118,731,615 (GRCm39)	V97A	possibly damaging	Het
Mertk	C	A	2: 128,625,920 (GRCm39)	T685K	probably benign	Het
Msh2	C	A	17: 88,030,841 (GRCm39)	A906E	probably benign	Het
Myom2	G	A	8: 15,133,310 (GRCm39)	V401M	probably damaging	Het
Nop2	T	C	6: 125,110,726 (GRCm39)	S68P	probably benign	Het
Notch1	A	T	2: 26,366,126 (GRCm39)	D809E	possibly damaging	Het
Or14c39	T	C	7: 86,343,793 (GRCm39)	I43T	possibly damaging	Het
Ppat	C	T	5: 77,076,525 (GRCm39)		probably benign	Het
Prss23	T	A	7: 89,159,422 (GRCm39)	M216L	probably benign	Het
Psg18	A	T	7: 18,083,279 (GRCm39)	V171D	probably damaging	Het
Psg28	A	G	7: 18,161,816 (GRCm39)	V229A	probably damaging	Het
Qser1	T	C	2: 104,618,176 (GRCm39)	N879D	possibly damaging	Het
Rpap1	T	C	2: 119,600,522 (GRCm39)	N879S	probably benign	Het
Rusc2	T	C	4: 43,415,926 (GRCm39)	S411P	probably damaging	Het
Rxfp2	T	A	5: 149,990,825 (GRCm39)	W519R	probably damaging	Het
Scpep1	T	A	11: 88,832,175 (GRCm39)	Q185L	probably benign	Het
Serpinb11	A	G	1: 107,307,379 (GRCm39)	N270S	probably benign	Het
Serpinb6d	T	A	13: 33,855,427 (GRCm39)	M367K	probably benign	Het
Skint10	T	G	4: 112,584,869 (GRCm39)	I213L	probably benign	Het
Skint5	T	C	4: 113,403,734 (GRCm39)	T1163A	unknown	Het
Slamf9	A	T	1: 172,303,780 (GRCm39)	I42L	possibly damaging	Het
Slc1a3	T	C	15: 8,680,330 (GRCm39)		probably benign	Het
Smad6	T	A	9: 63,861,182 (GRCm39)	Q371L	possibly damaging	Het
Snx31	A	T	15: 36,555,469 (GRCm39)	V26E	probably damaging	Het
Spata31e5	A	G	1: 28,816,943 (GRCm39)	I363T	possibly damaging	Het
Taf4b	A	G	18: 14,955,229 (GRCm39)	N594S	possibly damaging	Het
Tanc2	T	C	11: 105,670,918 (GRCm39)	S172P	probably damaging	Het
Tas2r110	T	A	6: 132,845,438 (GRCm39)	Y156*	probably null	Het
Tbc1d20	G	A	2: 152,135,856 (GRCm39)		probably benign	Het
Timm50	A	T	7: 28,006,284 (GRCm39)	D272E	probably benign	Het
Ttn	T	G	2: 76,730,855 (GRCm39)		probably benign	Het
Vps13c	T	A	9: 67,823,661 (GRCm39)	F1362I	probably benign	Het
Vwf	T	C	6: 125,543,220 (GRCm39)	S154P	probably benign	Het
Zfp445	T	C	9: 122,681,410 (GRCm39)	R844G	probably benign	Het

Other mutations in Nme5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00983:Nme5	APN	18	34,700,181 (GRCm39)	missense	probably benign	0.20
IGL01016:Nme5	APN	18	34,711,712 (GRCm39)	splice site	probably null
IGL01982:Nme5	APN	18	34,702,928 (GRCm39)	missense	probably damaging	0.96
IGL02336:Nme5	APN	18	34,711,730 (GRCm39)	missense	probably benign	0.35
IGL02897:Nme5	APN	18	34,702,956 (GRCm39)	intron	probably benign
aesthenic	UTSW	18	34,711,738 (GRCm39)	start codon destroyed	probably null	1.00
R1209:Nme5	UTSW	18	34,702,949 (GRCm39)	missense	probably damaging	1.00
R1221:Nme5	UTSW	18	34,704,575 (GRCm39)	missense	probably damaging	1.00
R3855:Nme5	UTSW	18	34,702,884 (GRCm39)	missense	possibly damaging	0.48
R4729:Nme5	UTSW	18	34,702,890 (GRCm39)	missense	probably benign
R6658:Nme5	UTSW	18	34,711,639 (GRCm39)	missense	probably damaging	1.00
R6820:Nme5	UTSW	18	34,704,626 (GRCm39)	missense	probably damaging	1.00
R7593:Nme5	UTSW	18	34,700,201 (GRCm39)	missense	probably benign	0.00
R9321:Nme5	UTSW	18	34,704,597 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ATCGGGTGGCTACATTTATATAGG -3'
(R):5'- GTCCTCCAACCTCAGTCAAG -3'

Sequencing Primer
(F):5'- TGGTGAATCCAGATCCCA -3'
(R):5'- CGTGCAGTACAAGTCGGATTC -3'

Posted On

2016-06-06