Mutagenetix > Incidental Mutation

Incidental Mutation 'R7887:Nudt6'

609101

Institutional Source

Beutler Lab

Gene Symbol

Nudt6

Ensembl Gene

ENSMUSG00000050174

Gene Name

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

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.200) question?

Stock #

R7887 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

37404910-37420211 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 37412380 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 157 (V157I)

Ref Sequence

ENSEMBL: ENSMUSP00000056219 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000052645
AA Change: V157I

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000056219
Gene: ENSMUSG00000050174
AA Change: V157I

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000099130
AA Change: V157I

PolyPhen 2 Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000096733
Gene: ENSMUSG00000050174
AA Change: V157I

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: V89I

PolyPhen 2 Score 0.241 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000103753
Gene: ENSMUSG00000050174
AA Change: V89I

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

Predicted Effect

SMART Domains

Protein: ENSMUSP00000118428
Gene: ENSMUSG00000050174
AA Change: V123I

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

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: 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: 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: ENSMUST00000198158

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

98% (48/49)

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
Alkbh8	T	A	9: 3,385,343	I580N	probably damaging	Het
Ankrd35	C	T	3: 96,684,900	T834M	probably damaging	Het
Astn2	C	T	4: 65,644,866	V893I	possibly damaging	Het
B4galt1	A	G	4: 40,823,501	Y197H	probably benign	Het
Brdt	T	C	5: 107,359,933	S676P	possibly damaging	Het
Chrdl2	T	C	7: 100,029,250	V343A	possibly damaging	Het
Clcn3	A	T	8: 60,941,399	M59K	probably benign	Het
Cpne4	A	T	9: 105,032,791	N529I	probably damaging	Het
Crcp	G	T	5: 130,037,870	K32N	possibly damaging	Het
Ddx54	C	T	5: 120,627,203	R846C	probably damaging	Het
Dennd6a	T	C	14: 26,599,657	S118P	possibly damaging	Het
Egr3	A	G	14: 70,079,202	Y116C	probably damaging	Het
Fbxw25	A	G	9: 109,649,594		probably null	Het
Focad	T	G	4: 88,182,616	I313M	probably damaging	Het
Gm10272	C	T	10: 77,706,945	P107L	probably benign	Het
Gpr26	A	C	7: 131,966,973	I16L	probably benign	Het
Gpr39	C	A	1: 125,677,542	T69K	probably damaging	Het
Hacl1	C	T	14: 31,634,227	G97S	probably damaging	Het
Idh3b	A	C	2: 130,281,758	D136E	probably damaging	Het
Irf6	G	A	1: 193,167,732	V321M	probably damaging	Het
Klrg2	T	A	6: 38,636,571	T166S	probably damaging	Het
Lnx2	T	C	5: 147,019,043	I648V	probably damaging	Het
Mecr	A	G	4: 131,860,866		probably null	Het
Mnat1	T	A	12: 73,188,191	S205T	probably benign	Het
Mpnd	G	A	17: 56,011,097	G204D	probably benign	Het
Myh7	C	T	14: 54,983,662	E935K	possibly damaging	Het
Nid1	G	T	13: 13,499,733	R899L	possibly damaging	Het
Nisch	C	T	14: 31,176,695	W664*	probably null	Het
Olfr1156	T	C	2: 87,949,880	M118V	probably damaging	Het
Olfr573-ps1	A	C	7: 102,942,151	L142R	possibly damaging	Het
Olfr949-ps1	A	T	9: 39,364,879	M107L	unknown	Het
Onecut2	T	A	18: 64,340,975	M180K	possibly damaging	Het
Parg	T	A	14: 32,217,662	D548E	possibly damaging	Het
Pclo	GTCTAT	GTCTATTCTAT	5: 14,714,190		probably null	Het
Phf11d	A	G	14: 59,359,580	Y57H	probably damaging	Het
Prkaca	T	C	8: 83,986,895	V99A	probably benign	Het
Rnf144b	T	A	13: 47,239,811	C209S	probably damaging	Het
Scly	G	A	1: 91,300,641		probably null	Het
Selplg	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	5: 113,819,695		probably benign	Het
Sphkap	T	C	1: 83,277,412	Y872C	probably benign	Het
Ssh1	C	T	5: 113,961,349		probably null	Het
Strap	T	G	6: 137,739,809	L129V	possibly damaging	Het
Sympk	T	C	7: 19,034,439	I111T	possibly damaging	Het
Tprn	C	A	2: 25,264,012	A442E	probably damaging	Het
Tsen34	T	C	7: 3,694,708	L36P	probably damaging	Het
Ubr4	T	C	4: 139,407,810	F818L	probably damaging	Het
Uggt1	T	C	1: 36,208,034	Y294C	probably damaging	Het
Usp20	A	G	2: 31,020,894	K862E	probably benign	Het
Vmn1r201	A	T	13: 22,474,786	I57F	probably damaging	Het
Wdr64	C	T	1: 175,785,545	A662V	not run	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
R4416:Nudt6	UTSW	3	37405229	splice site	probably null
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

Predicted Primers

PCR Primer
(F):5'- GACAGGTTTAGGTCTGTGTCACAG -3'
(R):5'- TGAGTAATGACCTCCTTGCTG -3'

Sequencing Primer
(F):5'- CTGTGTCACAGCTTTATTTAGATAGG -3'
(R):5'- CCTTGCTGGAGAGGTGTTTTATAGTC -3'

Posted On

2019-12-20