Mutagenetix > Incidental Mutation

Incidental Mutation 'R4416:Nudt6'

326825

Institutional Source

Beutler Lab

Gene Symbol

Nudt6

Ensembl Gene

ENSMUSG00000050174

Gene Name

nudix (nucleoside diphosphate linked moiety X)-type motif 6

Synonyms

MMRRC Submission

041137-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.220) question?

Stock #

R4416 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

37404910-37420211 bp(-) (GRCm38)

Type of Mutation

splice site (127 bp from exon)

DNA Base Change (assembly)

A to T at 37405229 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000116572 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038885] [ENSMUST00000052645] [ENSMUST00000091203] [ENSMUST00000099130] [ENSMUST00000108117] [ENSMUST00000108118] [ENSMUST00000108120] [ENSMUST00000138563] [ENSMUST00000141438] [ENSMUST00000146324] [ENSMUST00000149449] [ENSMUST00000200585]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000038885

SMART Domains

Protein: ENSMUSP00000037694
Gene: ENSMUSG00000037225

Domain	Start	End	E-Value	Type
FGF	25	151	2.08e-65	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000052645
AA Change: Y270*

SMART Domains

Protein: ENSMUSP00000056219
Gene: ENSMUSG00000050174
AA Change: Y270*

Domain	Start	End	E-Value	Type
PDB:3FXT\|H	42	131	1e-42	PDB
Pfam:NUDIX	139	270	2.7e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000091203

SMART Domains

Protein: ENSMUSP00000088742
Gene: ENSMUSG00000037225

Domain	Start	End	E-Value	Type
FGF	3	109	3.67e-34	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000099130
AA Change: Y269*

SMART Domains

Protein: ENSMUSP00000096733
Gene: ENSMUSG00000050174
AA Change: Y269*

Domain	Start	End	E-Value	Type
PDB:3FXT\|H	42	131	1e-42	PDB
Pfam:NUDIX	139	269	7.3e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108117

SMART Domains

Protein: ENSMUSP00000103752
Gene: ENSMUSG00000050174

Domain	Start	End	E-Value	Type
PDB:3FXT\|H	42	76	3e-7	PDB

Predicted Effect

probably null
Transcript: ENSMUST00000108118
AA Change: Y202*

SMART Domains

Protein: ENSMUSP00000103753
Gene: ENSMUSG00000050174
AA Change: Y202*

Domain	Start	End	E-Value	Type
Pfam:NUDIX	73	202	1.7e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108120

SMART Domains

Protein: ENSMUSP00000103755
Gene: ENSMUSG00000037225

Domain	Start	End	E-Value	Type
FGF	3	106	3.19e-34	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133894

Predicted Effect

probably benign
Transcript: ENSMUST00000138563

SMART Domains

Protein: ENSMUSP00000122227
Gene: ENSMUSG00000037225

Domain	Start	End	E-Value	Type
FGF	25	151	2.08e-65	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138710

Predicted Effect

probably null
Transcript: ENSMUST00000141438
AA Change: Y54*

SMART Domains

Protein: ENSMUSP00000142588
Gene: ENSMUSG00000050174
AA Change: Y54*

Domain	Start	End	E-Value	Type
PDB:3H95\|A	2	97	5e-55	PDB

Predicted Effect

probably null
Transcript: ENSMUST00000146324
AA Change: Y104*

SMART Domains

Protein: ENSMUSP00000142653
Gene: ENSMUSG00000050174
AA Change: Y104*

Domain	Start	End	E-Value	Type
Pfam:NUDIX	1	104	6.6e-17	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145228

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199938

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150021

Predicted Effect

probably null
Transcript: ENSMUST00000149449

SMART Domains

Protein: ENSMUSP00000116572
Gene: ENSMUSG00000050174

Domain	Start	End	E-Value	Type
PDB:3FXT\|H	42	131	3e-44	PDB
PDB:3H95\|A	132	191	6e-22	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000200585

SMART Domains

Protein: ENSMUSP00000143094
Gene: ENSMUSG00000037225

Domain	Start	End	E-Value	Type
FGF	25	151	2.08e-65	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000198158

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 95.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene overlaps and lies on the opposite strand from FGF2 gene, and is thought to be the FGF2 antisense gene. The two genes are independently transcribed, and their expression shows an inverse relationship, suggesting that this antisense transcript may regulate FGF2 expression. This gene has also been shown to have hormone-regulatory and antiproliferative actions in the pituitary that are independent of FGF2 expression. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110017D15Rik	T	C	4: 41,505,574	T183A	possibly damaging	Het
4933412E24Rik	T	A	15: 60,016,423	E56V	possibly damaging	Het
Adam28	A	G	14: 68,622,082		probably null	Het
Bnc1	G	T	7: 81,968,960	H786N	probably benign	Het
Cav1	T	A	6: 17,339,249	M100K	probably benign	Het
Cdk9	A	G	2: 32,708,072	L273P	probably damaging	Het
Celsr1	A	G	15: 85,927,999	V2065A	probably damaging	Het
Cyp2c54	T	C	19: 40,038,259	Q484R	probably benign	Het
Elfn1	T	C	5: 139,972,194	S318P	possibly damaging	Het
Fam160b1	G	T	19: 57,385,397		probably null	Het
Fbxl6	T	C	15: 76,537,724	E205G	possibly damaging	Het
Frmd6	T	A	12: 70,877,249	Y94N	probably benign	Het
Gdpd1	A	T	11: 87,035,288	V277D	probably benign	Het
Gm1141	G	A	X: 71,939,619	C399Y	possibly damaging	Het
Grik1	C	A	16: 88,051,461	V140L	probably benign	Het
Grpel1	A	G	5: 36,471,272	H175R	probably damaging	Het
Gtdc1	G	T	2: 44,575,590		probably null	Het
Hivep2	A	T	10: 14,129,170	Q504L	probably benign	Het
Icos	A	T	1: 60,994,690	I160L	probably benign	Het
Igsf9b	G	T	9: 27,322,917	C442F	probably damaging	Het
Itga10	T	C	3: 96,658,246	V1062A	possibly damaging	Het
Lrp1b	C	T	2: 40,663,667	V386I	unknown	Het
Lrp2	G	T	2: 69,527,231	F409L	probably benign	Het
Nadk	T	G	4: 155,587,726	Y291*	probably null	Het
Oit3	T	C	10: 59,428,103	Y403C	probably damaging	Het
Olfr694	G	A	7: 106,689,011	T240I	probably benign	Het
Olfr814	T	C	10: 129,873,957	T267A	probably benign	Het
Olfr974	A	G	9: 39,942,428	H56R	probably damaging	Het
Pds5b	C	T	5: 150,736,396	P275S	probably damaging	Het
Pdzd7	T	A	19: 45,040,580	E117V	probably damaging	Het
Pik3ca	T	C	3: 32,461,530	V784A	probably damaging	Het
Polr3e	T	C	7: 120,939,057		probably null	Het
Rab3gap2	A	T	1: 185,282,347	D1231V	probably benign	Het
Rapgef2	C	A	3: 79,069,057	G1481*	probably null	Het
Rho	G	A	6: 115,935,230	V76I	probably benign	Het
Rrm1	A	G	7: 102,447,801	D96G	probably benign	Het
Slc35b2	G	A	17: 45,566,429	V161M	probably benign	Het
Srp9	A	T	1: 182,131,411	M50L	probably benign	Het
Stox1	T	C	10: 62,659,569	N975S	probably benign	Het
Sult1d1	A	G	5: 87,558,576	F169S	probably damaging	Het
Tmem63c	C	G	12: 87,081,902	T567R	probably benign	Het
Tmf1	G	T	6: 97,178,988	F12L	probably damaging	Het
Ush2a	T	C	1: 188,356,874	I342T	probably damaging	Het
Veph1	A	T	3: 66,061,185	N712K	probably damaging	Het
Vti1a	T	G	19: 55,380,948	S91A	probably benign	Het

Other mutations in Nudt6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02629:Nudt6	APN	3	37405171	missense	probably benign	0.03
IGL02965:Nudt6	APN	3	37419506	missense	probably damaging	0.99
IGL02975:Nudt6	APN	3	37419518	missense	probably damaging	1.00
R0927:Nudt6	UTSW	3	37405353	missense	probably benign	0.01
R1884:Nudt6	UTSW	3	37412400	missense	probably benign	0.02
R1939:Nudt6	UTSW	3	37405230	missense	probably damaging	1.00
R2122:Nudt6	UTSW	3	37412405	missense	probably benign	0.01
R4801:Nudt6	UTSW	3	37405354	missense	probably benign	0.01
R4802:Nudt6	UTSW	3	37405354	missense	probably benign	0.01
R5826:Nudt6	UTSW	3	37419468	missense	probably benign	0.05
R6362:Nudt6	UTSW	3	37419489	missense	possibly damaging	0.66
R7887:Nudt6	UTSW	3	37412380	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- TATGTGAGAAAACTGGCGTCAG -3'
(R):5'- GGTGTCAAGTCAGAATTCAGGTC -3'

Sequencing Primer
(F):5'- ACTGGCGTCAGGTTGAAATC -3'
(R):5'- CAAGTCAGAATTCAGGTCCCTGTTG -3'

Posted On

2015-07-07