Mutagenetix > Incidental Mutation

Incidental Mutation 'R0927:Nudt6'

80475

Institutional Source

Beutler Lab

Gene Symbol

Nudt6

Ensembl Gene

ENSMUSG00000050174

Gene Name

nudix hydrolase 6

Synonyms

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

MMRRC Submission

039074-MU

Accession Numbers

Essential gene?

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

Stock #

R0927 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

37459126-37474391 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 37459502 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 161 (R161H)

Ref Sequence

ENSEMBL: ENSMUSP00000103753 (fasta)

Gene Model

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

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: R229H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000056219
Gene: ENSMUSG00000050174
AA Change: R229H

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: R228H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000096733
Gene: ENSMUSG00000050174
AA Change: R228H

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: R161H

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

SMART Domains

Protein: ENSMUSP00000103753
Gene: ENSMUSG00000050174
AA Change: R161H

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: R13H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000142588
Gene: ENSMUSG00000050174
AA Change: R13H

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

Predicted Effect

probably benign
Transcript: ENSMUST00000146324
AA Change: R63H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000142653
Gene: ENSMUSG00000050174
AA Change: R63H

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133894

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199938

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145228

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138710

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150021

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

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: 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: ENSMUST00000198158

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.0%
20x: 93.7%

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb8	T	C	5: 24,607,317 (GRCm39)	L363P	probably damaging	Het
Adam12	T	A	7: 133,599,959 (GRCm39)	H85L	probably damaging	Het
Adam34	A	T	8: 44,104,621 (GRCm39)	H341Q	probably damaging	Het
Adam34l	A	T	8: 44,078,160 (GRCm39)	M688K	probably benign	Het
Adam7	A	G	14: 68,754,133 (GRCm39)	L322P	probably damaging	Het
Adcy5	T	A	16: 34,976,613 (GRCm39)	S49T	probably benign	Het
Arfgap2	T	C	2: 91,104,150 (GRCm39)	S374P	probably benign	Het
Arpp19	G	A	9: 74,944,967 (GRCm39)		probably benign	Het
Baz1a	T	C	12: 54,941,773 (GRCm39)	K1478E	probably damaging	Het
Cdc27	G	T	11: 104,396,467 (GRCm39)	A812E	possibly damaging	Het
Chtf8	G	A	8: 107,612,150 (GRCm39)	T263I	probably damaging	Het
Clcn6	T	C	4: 148,113,849 (GRCm39)	N70D	probably benign	Het
Cntnap5c	A	T	17: 58,349,553 (GRCm39)	T289S	possibly damaging	Het
Dzip3	T	C	16: 48,795,840 (GRCm39)	N177S	probably damaging	Het
Edar	G	T	10: 58,465,313 (GRCm39)		probably null	Het
Enam	T	A	5: 88,641,919 (GRCm39)	N244K	possibly damaging	Het
Fbxw10	A	G	11: 62,767,770 (GRCm39)	K874E	probably damaging	Het
Glra3	A	G	8: 56,578,239 (GRCm39)	E432G	possibly damaging	Het
Grin3b	G	A	10: 79,807,062 (GRCm39)	R110Q	probably benign	Het
Herc3	T	A	6: 58,845,748 (GRCm39)	V423D	possibly damaging	Het
Ifit2	A	T	19: 34,550,984 (GRCm39)	T175S	probably benign	Het
Kcnj8	T	G	6: 142,511,627 (GRCm39)	I327L	possibly damaging	Het
Kcns2	A	T	15: 34,839,242 (GRCm39)	I202F	probably benign	Het
Kif12	T	C	4: 63,087,010 (GRCm39)	R305G	possibly damaging	Het
Limch1	A	G	5: 67,154,576 (GRCm39)	D362G	probably damaging	Het
Lrba	T	C	3: 86,687,540 (GRCm39)	I2815T	probably damaging	Het
Lrrtm1	G	T	6: 77,221,843 (GRCm39)	M433I	probably damaging	Het
Myh7b	A	G	2: 155,462,040 (GRCm39)	D312G	probably damaging	Het
Nrxn1	A	T	17: 90,344,758 (GRCm39)	I382N	probably damaging	Het
Or10w1	T	A	19: 13,631,816 (GRCm39)	W8R	probably damaging	Het
Or11g2	A	C	14: 50,856,044 (GRCm39)	M122L	possibly damaging	Het
Or4m1	A	T	14: 50,558,186 (GRCm39)	Y35*	probably null	Het
Or7e166	C	T	9: 19,624,945 (GRCm39)	A274V	probably benign	Het
Pmf1	A	T	3: 88,303,369 (GRCm39)	V64D	probably damaging	Het
Pomgnt1	T	A	4: 116,009,048 (GRCm39)	V29D	probably damaging	Het
Pramel22	T	A	4: 143,380,790 (GRCm39)	H411L	possibly damaging	Het
Pramel26	A	T	4: 143,539,378 (GRCm39)	D38E	probably benign	Het
Prex1	C	T	2: 166,428,457 (GRCm39)	A925T	probably benign	Het
Pus3	A	G	9: 35,476,327 (GRCm39)	Y72C	probably damaging	Het
Rnf20	T	C	4: 49,642,176 (GRCm39)	S247P	probably damaging	Het
Rnf213	T	A	11: 119,305,396 (GRCm39)	D542E	probably benign	Het
Sidt1	T	C	16: 44,063,895 (GRCm39)	D786G	probably benign	Het
Sirt6	A	T	10: 81,458,475 (GRCm39)	D219E	probably damaging	Het
Slc36a2	A	T	11: 55,072,411 (GRCm39)	I67N	probably damaging	Het
Slc47a1	A	G	11: 61,264,248 (GRCm39)	F57S	probably damaging	Het
Spg11	T	A	2: 121,924,968 (GRCm39)	T756S	probably damaging	Het
Sptbn1	C	A	11: 30,071,591 (GRCm39)	R1447L	probably damaging	Het
Tcf7l2	A	G	19: 55,907,387 (GRCm39)	M340V	probably damaging	Het
Thap1	T	C	8: 26,652,733 (GRCm39)	V157A	probably benign	Het
Ubash3b	G	A	9: 40,934,853 (GRCm39)	Q354*	probably null	Het
Ubtd1	G	A	19: 42,020,460 (GRCm39)	W68*	probably null	Het
Wdr64	G	T	1: 175,620,647 (GRCm39)	R793L	probably damaging	Het
Zbtb24	C	T	10: 41,327,432 (GRCm39)	T106I	probably benign	Het
Zbtb26	T	C	2: 37,326,337 (GRCm39)	N233S	possibly damaging	Het
Zcchc24	A	T	14: 25,757,585 (GRCm39)	N99K	possibly damaging	Het

Other mutations in Nudt6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02629:Nudt6	APN	3	37,459,320 (GRCm39)	missense	probably benign	0.03
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
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

Predicted Primers

PCR Primer
(F):5'- GGCAGCTCCCTGTGATAGAGTTTG -3'
(R):5'- ACTCCGGCAGTTTGATGGAAGC -3'

Sequencing Primer
(F):5'- CTCCCTGTGATAGAGTTTGTAGAAC -3'
(R):5'- GGATGAAATCTTTAtgtttgtgtgtg -3'

Posted On

2013-11-07