Mutagenetix > Incidental Mutation

Incidental Mutation 'R6658:Nme5'

526743

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6658 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34695687-34712168 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 34711639 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Serine at position 34 (I34S)

Ref Sequence

ENSEMBL: ENSMUSP00000118213 (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 damaging
Transcript: ENSMUST00000079287
AA Change: I34S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000078269
Gene: ENSMUSG00000035984
AA Change: I34S

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 damaging
Transcript: ENSMUST00000134875
AA Change: I34S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000118213
Gene: ENSMUSG00000035984
AA Change: I34S

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000154342
AA Change: I34S

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

SMART Domains

Protein: ENSMUSP00000117443
Gene: ENSMUSG00000035984
AA Change: I34S

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000155114
AA Change: I34S

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

Meta Mutation Damage Score

0.9557

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.5%

Validation Efficiency

96% (53/55)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts7	A	G	9: 90,077,353 (GRCm39)	N1340S	probably damaging	Het
Akr1b1	C	T	6: 34,286,939 (GRCm39)	V206M	possibly damaging	Het
Antxr1	C	A	6: 87,261,291 (GRCm39)	R167L	probably damaging	Het
BC107364	T	C	3: 96,348,026 (GRCm39)	S88G	unknown	Het
Cfap100	T	G	6: 90,390,400 (GRCm39)	E80A	probably damaging	Het
Dhx8	C	A	11: 101,655,748 (GRCm39)	H1107Q	probably damaging	Het
Dip2c	G	A	13: 9,543,213 (GRCm39)		probably null	Het
Dpep2	A	T	8: 106,716,542 (GRCm39)	D212E	probably benign	Het
Dpep3	T	C	8: 106,705,728 (GRCm39)	T66A	probably benign	Het
Fat4	G	T	3: 38,997,077 (GRCm39)	M1765I	probably benign	Het
Gbgt1	G	A	2: 28,394,998 (GRCm39)	R212H	probably benign	Het
Gimap4	T	C	6: 48,668,338 (GRCm39)	S215P	possibly damaging	Het
Gpr161	A	T	1: 165,134,136 (GRCm39)	T133S	possibly damaging	Het
Grin2c	G	T	11: 115,149,108 (GRCm39)	S163R	possibly damaging	Het
Grip2	T	A	6: 91,763,472 (GRCm39)	N109Y	probably damaging	Het
H60c	G	A	10: 3,210,270 (GRCm39)	T93I	possibly damaging	Het
Hmgcl	A	G	4: 135,682,962 (GRCm39)	N138S	probably damaging	Het
Hoxa3	G	T	6: 52,147,058 (GRCm39)	Y398*	probably null	Het
Igkv1-132	A	G	6: 67,737,091 (GRCm39)	N19S	probably benign	Het
Ikbip	A	G	10: 90,932,181 (GRCm39)	N275S	probably benign	Het
Il7	T	A	3: 7,642,239 (GRCm39)	T33S	probably benign	Het
Iqgap2	A	T	13: 95,796,840 (GRCm39)	Y1105N	probably damaging	Het
Lmo7	A	G	14: 102,148,281 (GRCm39)	D934G	possibly damaging	Het
Mroh4	T	C	15: 74,492,978 (GRCm39)	Q310R	possibly damaging	Het
Mtmr14	C	A	6: 113,242,437 (GRCm39)	Y22*	probably null	Het
Muc5b	G	T	7: 141,422,244 (GRCm39)		probably null	Het
Naga	T	G	15: 82,214,975 (GRCm39)	K328Q	probably benign	Het
Neo1	G	A	9: 58,829,132 (GRCm39)	T589I	probably benign	Het
Nrip2	T	C	6: 128,385,199 (GRCm39)	L210P	possibly damaging	Het
Nup93	A	G	8: 95,030,807 (GRCm39)	D424G	probably benign	Het
Or12e9	T	C	2: 87,202,497 (GRCm39)	V207A	probably benign	Het
Or1e26	G	A	11: 73,479,874 (GRCm39)	S230F	probably damaging	Het
Papss1	T	A	3: 131,311,696 (GRCm39)	V308E	probably benign	Het
Pilrb1	T	A	5: 137,855,789 (GRCm39)	Y34F	probably benign	Het
Pira2	T	A	7: 3,845,300 (GRCm39)	E319D	probably benign	Het
Pkhd1	G	A	1: 20,682,929 (GRCm39)	T91M	probably damaging	Het
Prph2	A	G	17: 47,230,790 (GRCm39)	T228A	probably benign	Het
Ranbp17	G	T	11: 33,169,214 (GRCm39)	S1000*	probably null	Het
Rbm27	A	C	18: 42,457,178 (GRCm39)	H651P	probably damaging	Het
Scyl2	A	T	10: 89,476,835 (GRCm39)	D763E	probably benign	Het
Sltm	A	G	9: 70,488,644 (GRCm39)	Y598C	probably damaging	Het
Smc2	A	T	4: 52,451,322 (GRCm39)	K322I	probably benign	Het
Tcf4	G	A	18: 69,790,873 (GRCm39)	R271Q	probably null	Het
Tex36	C	T	7: 133,196,140 (GRCm39)	D87N	probably damaging	Het
Tex44	A	C	1: 86,354,751 (GRCm39)	H220P	probably benign	Het
Tjp1	T	C	7: 64,950,825 (GRCm39)	D1683G	possibly damaging	Het
Trav7-2	T	C	14: 53,628,573 (GRCm39)	S104P	probably damaging	Het
Trim55	C	T	3: 19,745,719 (GRCm39)	R532C	probably damaging	Het
Ube3c	T	A	5: 29,807,215 (GRCm39)	L338Q	probably damaging	Het
Ush2a	A	G	1: 188,546,556 (GRCm39)	H3444R	possibly damaging	Het
Vars1	A	G	17: 35,234,717 (GRCm39)	D1182G	probably benign	Het
Vit	T	A	17: 78,930,232 (GRCm39)	I399N	possibly damaging	Het
Vmn1r16	A	T	6: 57,300,091 (GRCm39)	L177*	probably null	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
R5010:Nme5	UTSW	18	34,711,738 (GRCm39)	start codon destroyed	probably null	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'- TTGGAAGTCAGTACATAGCTGAC -3'
(R):5'- GATTTTGGGACCAGGACTCC -3'

Sequencing Primer
(F):5'- CTGATACCGAGATCACAGGCATG -3'
(R):5'- ACTCCTGTCGTTGCTGTGGATAAC -3'

Posted On

2018-07-23