Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02629:Nudt6'

301195

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nudt6

Ensembl Gene

ENSMUSG00000050174

Gene Name

nudix hydrolase 6

Synonyms

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

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.144) question?

Stock #

IGL02629

Quality Score

Status

Chromosome

Chromosomal Location

37459126-37474391 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 37459320 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 222 (Y222H)

Ref Sequence

ENSEMBL: ENSMUSP00000103753 (fasta)

Gene Model

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

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 benign
Transcript: ENSMUST00000052645
AA Change: Y290H

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000056219
Gene: ENSMUSG00000050174
AA Change: Y290H

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 benign
Transcript: ENSMUST00000099130
AA Change: Y289H

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000096733
Gene: ENSMUSG00000050174
AA Change: Y289H

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 benign
Transcript: ENSMUST00000108118
AA Change: Y222H

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000103753
Gene: ENSMUSG00000050174
AA Change: Y222H

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

probably benign
Transcript: ENSMUST00000141438
AA Change: Y74H

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000142588
Gene: ENSMUSG00000050174
AA Change: Y74H

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

Predicted Effect

probably benign
Transcript: ENSMUST00000146324
AA Change: Y124H

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000142653
Gene: ENSMUSG00000050174
AA Change: Y124H

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: ENSMUST00000133894

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150021

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199938

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138710

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

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

Predicted Effect

probably benign
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

Coding Region Coverage

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	T	C	10: 100,445,006 (GRCm39)		probably benign	Het
Aadacl3	A	G	4: 144,190,199 (GRCm39)	I34T	possibly damaging	Het
Acan	T	A	7: 78,761,727 (GRCm39)	I1979N	possibly damaging	Het
Ankrd27	A	G	7: 35,325,121 (GRCm39)	D701G	probably benign	Het
Arhgap31	C	T	16: 38,429,526 (GRCm39)	G450S	probably benign	Het
Braf	T	C	6: 39,665,233 (GRCm39)	E45G	possibly damaging	Het
Btnl6	C	T	17: 34,733,442 (GRCm39)	V178M	probably damaging	Het
Capg	A	T	6: 72,532,737 (GRCm39)	Q67L	probably benign	Het
Carmil3	A	G	14: 55,736,525 (GRCm39)	N663S	probably damaging	Het
Casz1	T	A	4: 149,028,848 (GRCm39)	S1098T	probably benign	Het
Cd55b	A	T	1: 130,347,535 (GRCm39)		probably benign	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Cenpf	A	G	1: 189,384,531 (GRCm39)	L2583P	probably damaging	Het
Clec4a1	A	C	6: 122,909,106 (GRCm39)		probably null	Het
Corin	T	C	5: 72,490,016 (GRCm39)	N653S	probably damaging	Het
Dhx36	T	C	3: 62,414,155 (GRCm39)	E69G	probably benign	Het
Dpy19l1	C	A	9: 24,350,009 (GRCm39)		probably benign	Het
Fam184a	T	C	10: 53,574,907 (GRCm39)	N234S	possibly damaging	Het
Foxg1	A	G	12: 49,432,331 (GRCm39)	S355G	probably benign	Het
Fsd1l	T	C	4: 53,686,417 (GRCm39)	S277P	probably damaging	Het
Hadh	T	A	3: 131,029,284 (GRCm39)	D245V	probably damaging	Het
Jag2	G	A	12: 112,878,134 (GRCm39)		probably benign	Het
Klhl18	A	T	9: 110,259,006 (GRCm39)		probably benign	Het
Lmx1a	G	T	1: 167,672,192 (GRCm39)		probably benign	Het
Mcoln2	A	G	3: 145,875,799 (GRCm39)	Y89C	probably benign	Het
Mug1	A	T	6: 121,817,024 (GRCm39)	Y31F	possibly damaging	Het
Ndufb5	A	G	3: 32,791,348 (GRCm39)	T32A	probably benign	Het
Nub1	C	T	5: 24,908,462 (GRCm39)	H404Y	possibly damaging	Het
Or4x6	A	T	2: 89,949,201 (GRCm39)	L247*	probably null	Het
Pla2g4c	A	T	7: 13,069,302 (GRCm39)	R159*	probably null	Het
Pnpla7	A	G	2: 24,940,957 (GRCm39)	D1103G	probably damaging	Het
Pof1b	T	G	X: 111,554,934 (GRCm39)		probably benign	Het
Prrg2	C	T	7: 44,706,166 (GRCm39)		probably null	Het
Rab3gap1	A	G	1: 127,837,600 (GRCm39)	T221A	probably benign	Het
Rfx7	A	G	9: 72,526,541 (GRCm39)	N1244D	probably damaging	Het
Rnf123	G	A	9: 107,945,501 (GRCm39)	R390*	probably null	Het
Rnf123	A	T	9: 107,947,988 (GRCm39)		probably benign	Het
Rnf44	T	G	13: 54,830,875 (GRCm39)	Q207P	possibly damaging	Het
Serpina3g	A	G	12: 104,207,437 (GRCm39)	D200G	probably damaging	Het
Slc5a4a	T	A	10: 75,983,413 (GRCm39)	S17T	unknown	Het
Smc4	G	T	3: 68,933,206 (GRCm39)	C609F	probably damaging	Het
Sync	T	C	4: 129,187,744 (GRCm39)	F259L	probably damaging	Het
Tas2r113	T	C	6: 132,870,299 (GRCm39)	L109P	probably damaging	Het
Tjp2	C	A	19: 24,099,743 (GRCm39)		probably benign	Het
Tmem30a	C	A	9: 79,683,531 (GRCm39)		probably benign	Het
Unc80	T	C	1: 66,522,476 (GRCm39)	V226A	possibly damaging	Het
Upk2	A	T	9: 44,365,436 (GRCm39)	L44Q	probably damaging	Het
Usp42	T	C	5: 143,708,909 (GRCm39)	Y203C	possibly damaging	Het
Vmn1r28	A	T	6: 58,242,801 (GRCm39)	I215F	probably benign	Het
Zswim2	A	G	2: 83,755,553 (GRCm39)	V116A	possibly damaging	Het

Other mutations in Nudt6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02965:Nudt6	APN	3	37,473,655 (GRCm39)	missense	probably damaging	0.99
IGL02975:Nudt6	APN	3	37,473,667 (GRCm39)	missense	probably damaging	1.00
R0927:Nudt6	UTSW	3	37,459,502 (GRCm39)	missense	probably benign	0.01
R1884:Nudt6	UTSW	3	37,466,549 (GRCm39)	missense	probably benign	0.02
R1939:Nudt6	UTSW	3	37,459,379 (GRCm39)	missense	probably damaging	1.00
R2122:Nudt6	UTSW	3	37,466,554 (GRCm39)	missense	probably benign	0.01
R4416:Nudt6	UTSW	3	37,459,378 (GRCm39)	splice site	probably null
R4801:Nudt6	UTSW	3	37,459,503 (GRCm39)	missense	probably benign	0.01
R4802:Nudt6	UTSW	3	37,459,503 (GRCm39)	missense	probably benign	0.01
R5826:Nudt6	UTSW	3	37,473,617 (GRCm39)	missense	probably benign	0.05
R6362:Nudt6	UTSW	3	37,473,638 (GRCm39)	missense	possibly damaging	0.66
R7887:Nudt6	UTSW	3	37,466,529 (GRCm39)	missense	possibly damaging	0.95

Posted On

2015-04-16