Mutagenetix > Incidental Mutation

Incidental Mutation 'R5826:Nudt6'

450162

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

043217-MU

Accession Numbers

Essential gene?

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

Stock #

R5826 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

37459126-37474391 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 37473617 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 35 (T35A)

Ref Sequence

ENSEMBL: ENSMUSP00000116572 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029277] [ENSMUST00000052645] [ENSMUST00000099130] [ENSMUST00000108112] [ENSMUST00000108117] [ENSMUST00000108118] [ENSMUST00000149449] [ENSMUST00000141438] [ENSMUST00000198968] [ENSMUST00000146324]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000029277

SMART Domains

Protein: ENSMUSP00000029277
Gene: ENSMUSG00000027722

Domain	Start	End	E-Value	Type
low complexity region	12	26	N/A	INTRINSIC
CDC48_N	44	135	2.47e-1	SMART
low complexity region	276	287	N/A	INTRINSIC
AAA	385	524	4.96e-21	SMART
Blast:AAA	553	622	9e-21	BLAST
AAA	659	797	2.48e-21	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000052645
AA Change: T35A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000056219
Gene: ENSMUSG00000050174
AA Change: T35A

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: ENSMUST00000099130
AA Change: T35A

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

SMART Domains

Protein: ENSMUSP00000096733
Gene: ENSMUSG00000050174
AA Change: T35A

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: ENSMUST00000108112

SMART Domains

Protein: ENSMUSP00000103747
Gene: ENSMUSG00000027722

Domain	Start	End	E-Value	Type
low complexity region	12	26	N/A	INTRINSIC
CDC48_N	44	136	1.14e0	SMART
low complexity region	277	288	N/A	INTRINSIC
AAA	386	525	4.96e-21	SMART
Blast:AAA	554	623	9e-21	BLAST
AAA	660	798	2.48e-21	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000108117
AA Change: T35A

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

SMART Domains

Protein: ENSMUSP00000103752
Gene: ENSMUSG00000050174
AA Change: T35A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000108118
AA Change: T35A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000103753
Gene: ENSMUSG00000050174
AA Change: T35A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138225

Predicted Effect

unknown
Transcript: ENSMUST00000138949
AA Change: T33A

SMART Domains

Protein: ENSMUSP00000118428
Gene: ENSMUSG00000050174
AA Change: T33A

Domain	Start	End	E-Value	Type
PDB:3FXT\|H	17	98	4e-30	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000149449
AA Change: T35A

PolyPhen 2 Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000116572
Gene: ENSMUSG00000050174
AA Change: T35A

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

Predicted Effect

unknown
Transcript: ENSMUST00000198158
AA Change: T30A

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147687

Predicted Effect

probably benign
Transcript: ENSMUST00000141438

SMART Domains

Protein: ENSMUSP00000142588
Gene: ENSMUSG00000050174

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

Predicted Effect

probably benign
Transcript: ENSMUST00000198968

SMART Domains

Protein: ENSMUSP00000143349
Gene: ENSMUSG00000027722

Domain	Start	End	E-Value	Type
low complexity region	12	26	N/A	INTRINSIC
CDC48_N	44	136	8.6e-5	SMART
low complexity region	277	288	N/A	INTRINSIC
AAA	386	525	8.2e-23	SMART
Blast:AAA	554	623	7e-21	BLAST
AAA	660	798	4e-23	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000146324

SMART Domains

Protein: ENSMUSP00000142653
Gene: ENSMUSG00000050174

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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.7%

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	G	11: 9,632,056 (GRCm39)	H4992R	probably damaging	Het
Acyp2	C	T	11: 30,456,354 (GRCm39)	E98K	possibly damaging	Het
Akr1c20	T	C	13: 4,560,222 (GRCm39)	E152G	probably damaging	Het
Ano4	T	A	10: 88,788,189 (GRCm39)	D877V	probably damaging	Het
Asb18	A	C	1: 89,942,260 (GRCm39)	S14A	probably damaging	Het
Atrnl1	T	A	19: 57,618,724 (GRCm39)	Y147*	probably null	Het
Cbfa2t2	A	G	2: 154,342,375 (GRCm39)	I30M	possibly damaging	Het
Cpd	A	T	11: 76,675,242 (GRCm39)	L1293*	probably null	Het
Csmd2	T	C	4: 128,412,992 (GRCm39)		probably null	Het
Cst9	G	A	2: 148,680,393 (GRCm39)	V120I	possibly damaging	Het
Ddah2	A	G	17: 35,279,664 (GRCm39)	D128G	probably damaging	Het
Defb11	T	C	8: 22,395,510 (GRCm39)	I56V	probably benign	Het
Dnah17	A	T	11: 117,925,193 (GRCm39)	L3880Q	probably damaging	Het
Dnah2	C	T	11: 69,349,746 (GRCm39)	R2399Q	probably benign	Het
Dop1a	A	G	9: 86,389,623 (GRCm39)	T508A	possibly damaging	Het
Ephb2	T	A	4: 136,388,048 (GRCm39)	H685L	probably damaging	Het
Glrb	T	C	3: 80,752,449 (GRCm39)	Y387C	probably damaging	Het
Gucy2e	A	G	11: 69,126,859 (GRCm39)	S205P	possibly damaging	Het
Has2	T	A	15: 56,531,498 (GRCm39)	I406F	probably damaging	Het
Hcrtr2	A	C	9: 76,230,569 (GRCm39)	V73G	probably benign	Het
Hsd17b4	A	T	18: 50,316,239 (GRCm39)	Q622L	probably benign	Het
Nlrp1b	A	T	11: 71,072,022 (GRCm39)	M607K	probably benign	Het
Nol6	T	A	4: 41,122,158 (GRCm39)	D184V	probably benign	Het
Noxa1	T	A	2: 24,976,253 (GRCm39)	Q345L	probably damaging	Het
Phf8-ps	C	A	17: 33,284,288 (GRCm39)	R838I	possibly damaging	Het
Plcg2	T	C	8: 118,337,583 (GRCm39)	V985A	probably benign	Het
Plxnc1	C	T	10: 94,635,335 (GRCm39)		probably null	Het
Prkdc	G	A	16: 15,551,962 (GRCm39)	R2056H	probably benign	Het
Ptpn4	A	T	1: 119,612,246 (GRCm39)	I49N	probably benign	Het
Ralgapa1	T	G	12: 55,723,898 (GRCm39)	S1543R	probably damaging	Het
Rnf135	A	T	11: 80,089,912 (GRCm39)	N416I	probably damaging	Het
Scn5a	A	G	9: 119,350,399 (GRCm39)	L825P	probably damaging	Het
Septin11	A	T	5: 93,287,309 (GRCm39)	N8I	possibly damaging	Het
Slc13a3	T	C	2: 165,250,876 (GRCm39)	I456V	probably benign	Het
Slc16a3	A	G	11: 120,847,756 (GRCm39)	T315A	probably benign	Het
Sun1	T	G	5: 139,231,171 (GRCm39)	F657C	probably damaging	Het
Tmco3	T	C	8: 13,360,314 (GRCm39)	S34P	probably damaging	Het
Tnrc18	G	A	5: 142,759,502 (GRCm39)	P778L	unknown	Het
Ubxn4	A	C	1: 128,194,058 (GRCm39)	K284T	possibly damaging	Het
Usp37	A	T	1: 74,509,785 (GRCm39)	N461K	probably damaging	Het
Vmn2r106	A	T	17: 20,499,133 (GRCm39)	F259L	probably benign	Het
Vmn2r73	T	C	7: 85,524,956 (GRCm39)	D64G	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
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
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'- GAATCCCGTGTCAGTCTCAG -3'
(R):5'- CAGGGAAGAGATGCTACGTC -3'

Sequencing Primer
(F):5'- TCAGTCTCAGGGGCAAGCATTC -3'
(R):5'- ATGCTACGTCAGGCGATG -3'

Posted On

2016-12-20