Mutagenetix > Incidental Mutation

Incidental Mutation 'R6362:Nudt6'

512494

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

044512-MU

Accession Numbers

Essential gene?

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

Stock #

R6362 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

37459126-37474391 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 37473638 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 28 (T28A)

Ref Sequence

ENSEMBL: ENSMUSP00000103752 (fasta)

Gene Model

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

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: T28A

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

SMART Domains

Protein: ENSMUSP00000056219
Gene: ENSMUSG00000050174
AA Change: T28A

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: T28A

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

SMART Domains

Protein: ENSMUSP00000096733
Gene: ENSMUSG00000050174
AA Change: T28A

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

possibly damaging
Transcript: ENSMUST00000108117
AA Change: T28A

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000103752
Gene: ENSMUSG00000050174
AA Change: T28A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000108118
AA Change: T28A

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

SMART Domains

Protein: ENSMUSP00000103753
Gene: ENSMUSG00000050174
AA Change: T28A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138225

Predicted Effect

probably benign
Transcript: ENSMUST00000149449
AA Change: T28A

PolyPhen 2 Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000116572
Gene: ENSMUSG00000050174
AA Change: T28A

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: T23A

Predicted Effect

unknown
Transcript: ENSMUST00000138949
AA Change: T26A

SMART Domains

Protein: ENSMUSP00000118428
Gene: ENSMUSG00000050174
AA Change: T26A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147687

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

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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 96.0%

Validation Efficiency

99% (78/79)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh5a1	T	G	13: 25,102,533 (GRCm39)	D310A	probably benign	Het
Als2cl	T	A	9: 110,724,514 (GRCm39)		probably null	Het
Amacr	C	A	15: 10,984,891 (GRCm39)	R170S	probably damaging	Het
Brwd1	C	T	16: 95,803,507 (GRCm39)	R2221Q	probably damaging	Het
Cacna1g	A	T	11: 94,330,533 (GRCm39)		probably null	Het
Cd3d	G	A	9: 44,897,589 (GRCm39)	D157N	probably damaging	Het
Cep131	T	C	11: 119,955,516 (GRCm39)	D1043G	probably damaging	Het
Cimip1	T	G	2: 173,369,967 (GRCm39)		probably null	Het
Cit	A	G	5: 116,024,735 (GRCm39)	D326G	probably benign	Het
Col16a1	G	C	4: 129,959,983 (GRCm39)	G370R	unknown	Het
Col6a3	T	A	1: 90,738,285 (GRCm39)	Y1078F	probably damaging	Het
Colgalt2	A	C	1: 152,347,549 (GRCm39)	Y161S	probably damaging	Het
Cyp2j13	A	G	4: 95,959,932 (GRCm39)	Y75H	probably damaging	Het
Daxx	G	A	17: 34,130,338 (GRCm39)	V118I	probably damaging	Het
Dennd5a	G	T	7: 109,533,472 (GRCm39)	C75*	probably null	Het
Diaph3	A	G	14: 87,009,566 (GRCm39)	L1071P	probably damaging	Het
Disp3	A	G	4: 148,338,765 (GRCm39)	L802P	possibly damaging	Het
Dmc1	A	G	15: 79,473,024 (GRCm39)	V141A	probably benign	Het
Dsc2	A	T	18: 20,168,520 (GRCm39)	Y45*	probably null	Het
Dspp	A	G	5: 104,323,900 (GRCm39)	I348V	probably benign	Het
Epb42	C	A	2: 120,856,260 (GRCm39)	C428F	possibly damaging	Het
Fam227a	G	T	15: 79,527,551 (GRCm39)	P100Q	possibly damaging	Het
Fer1l4	C	T	2: 155,890,170 (GRCm39)	V252I	probably benign	Het
Fhod1	C	A	8: 106,058,273 (GRCm39)		probably null	Het
Fhod3	G	T	18: 24,887,312 (GRCm39)	A68S	probably benign	Het
Gatm	T	C	2: 122,428,677 (GRCm39)	D328G	probably benign	Het
Gm6401	G	T	14: 41,789,727 (GRCm39)	H44N	probably benign	Het
Gpat2	G	C	2: 127,273,838 (GRCm39)	G294R	possibly damaging	Het
Gpr84	G	A	15: 103,216,937 (GRCm39)	A380V	probably damaging	Het
Herc1	G	T	9: 66,379,190 (GRCm39)	W3492L	probably damaging	Het
Hjurp	A	T	1: 88,202,772 (GRCm39)	Y71N	possibly damaging	Het
Jag2	T	A	12: 112,883,742 (GRCm39)	K246N	probably damaging	Het
Klhl32	T	C	4: 24,629,195 (GRCm39)	D524G	probably null	Het
Lax1	A	G	1: 133,608,334 (GRCm39)	S136P	possibly damaging	Het
Lefty1	A	G	1: 180,764,725 (GRCm39)	K217E	probably benign	Het
Lgr5	A	G	10: 115,314,430 (GRCm39)	L169P	probably damaging	Het
Lrrc37	G	C	11: 103,511,478 (GRCm39)	N163K	unknown	Het
Mad1l1	A	T	5: 140,300,810 (GRCm39)	S29T	possibly damaging	Het
Man1a	T	C	10: 53,950,891 (GRCm39)	H77R	probably benign	Het
Met	C	T	6: 17,558,732 (GRCm39)	S1120F	probably damaging	Het
Mfsd4b2	A	T	10: 39,797,605 (GRCm39)	I250N	probably damaging	Het
Myod1	A	G	7: 46,026,305 (GRCm39)	H70R	possibly damaging	Het
Neb	T	C	2: 52,102,704 (GRCm39)	N4280S	probably benign	Het
Nup85	A	G	11: 115,474,560 (GRCm39)	E628G	probably damaging	Het
Oaz3	A	T	3: 94,342,295 (GRCm39)	D120E	probably damaging	Het
Or2y3	A	T	17: 38,393,620 (GRCm39)	M83K	probably damaging	Het
Or5b102	A	T	19: 13,040,709 (GRCm39)		probably benign	Het
Or5be3	C	T	2: 86,863,633 (GRCm39)	A311T	probably benign	Het
Or5m8	C	A	2: 85,822,285 (GRCm39)	N41K	probably damaging	Het
Or6c1b	A	C	10: 129,272,812 (GRCm39)	I44L	probably damaging	Het
Osbpl8	A	T	10: 111,108,929 (GRCm39)	K404*	probably null	Het
Pcdhga2	A	G	18: 37,803,958 (GRCm39)	N601D	probably damaging	Het
Pld2	T	C	11: 70,445,501 (GRCm39)	Y638H	probably damaging	Het
Pramel27	A	G	4: 143,579,435 (GRCm39)	Y340C	probably damaging	Het
Prickle2	C	G	6: 92,435,596 (GRCm39)	V2L	possibly damaging	Het
Psmd6	G	A	14: 14,116,949 (GRCm38)	R125C	probably benign	Het
Rnaset2b	G	A	17: 7,259,093 (GRCm39)	V24I	probably benign	Het
Rusc2	A	T	4: 43,416,416 (GRCm39)	D574V	probably benign	Het
Scn8a	T	A	15: 100,837,996 (GRCm39)		probably null	Het
Sec11a	T	C	7: 80,572,879 (GRCm39)	E134G	probably benign	Het
Senp5	A	G	16: 31,808,702 (GRCm39)	V157A	probably damaging	Het
Shkbp1	C	T	7: 27,051,120 (GRCm39)		probably null	Het
Slc43a1	T	C	2: 84,690,128 (GRCm39)	L435P	probably damaging	Het
Spn	G	A	7: 126,735,895 (GRCm39)	P204L	possibly damaging	Het
Srr	T	A	11: 74,801,028 (GRCm39)	Q173L	probably damaging	Het
Star	C	G	8: 26,301,835 (GRCm39)	T222S	probably benign	Het
Timm22	T	A	11: 76,301,953 (GRCm39)	Y93N	probably damaging	Het
Tmc4	G	T	7: 3,678,458 (GRCm39)	Q58K	probably benign	Het
Tmem86b	C	T	7: 4,632,835 (GRCm39)	M1I	probably null	Het
Tmtc2	A	T	10: 105,205,831 (GRCm39)	I488N	probably damaging	Het
Tnxb	A	T	17: 34,913,362 (GRCm39)	Y1792F	probably damaging	Het
Tph1	T	A	7: 46,296,867 (GRCm39)	R443W	possibly damaging	Het
Ttyh1	T	A	7: 4,132,323 (GRCm39)	V253E	possibly damaging	Het
Usf3	A	G	16: 44,038,940 (GRCm39)	D1140G	probably benign	Het
Usp10	T	C	8: 120,668,055 (GRCm39)	S118P	probably benign	Het
Vmn2r63	C	T	7: 42,552,721 (GRCm39)	C845Y	probably benign	Het
Vmn2r72	G	T	7: 85,400,382 (GRCm39)	F222L	probably damaging	Het
Zfp654	G	A	16: 64,606,457 (GRCm39)	Q582*	probably null	Het
Zfp791	C	T	8: 85,846,279 (GRCm39)		probably benign	Het
Zfp879	T	A	11: 50,729,302 (GRCm39)	D32V	probably 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
R5826:Nudt6	UTSW	3	37,473,617 (GRCm39)	missense	probably benign	0.05
R7887:Nudt6	UTSW	3	37,466,529 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- GTTTACTAAGAGTTAAAGGCGTGG -3'
(R):5'- ATGAGACCAGGCTACGTCTG -3'

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

Posted On

2018-04-27