Mutagenetix > Incidental Mutation

Incidental Mutation 'R4355:Nmnat3'

327500

Institutional Source

Beutler Lab

Gene Symbol

Nmnat3

Ensembl Gene

ENSMUSG00000032456

Gene Name

nicotinamide nucleotide adenylyltransferase 3

Synonyms

PNAT3, 4933408N02Rik

MMRRC Submission

041108-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.078) question?

Stock #

R4355 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

98287435-98420438 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 98410152 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 150 (T150M)

Ref Sequence

ENSEMBL: ENSMUSP00000108557 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000112935] [ENSMUST00000112937] [ENSMUST00000112938]

AlphaFold

Q99JR6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000112935
AA Change: T150M

PolyPhen 2 Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000108557
Gene: ENSMUSG00000032456
AA Change: T150M

Domain	Start	End	E-Value	Type
Pfam:CTP_transf_2	3	97	2e-23	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000112937
AA Change: T84M

PolyPhen 2 Score 0.784 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000108559
Gene: ENSMUSG00000032456
AA Change: T84M

Domain	Start	End	E-Value	Type
Pfam:CTP_transf_2	1	141	7.6e-31	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000112938

SMART Domains

Protein: ENSMUSP00000108560
Gene: ENSMUSG00000032456

Domain	Start	End	E-Value	Type
Pfam:CTP_transf_2	10	121	2.4e-29	PFAM

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

100% (57/57)

MGI Phenotype

PHENOTYPE: Mice homozygous for a gene trapped allele exhibit splenomegaly and hemolytic anemia resulting from a glycolysis pathway blockade. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam26a	T	G	8: 43,570,185 (GRCm38)	Q89H	probably benign	Het
Adgrb1	T	C	15: 74,543,662 (GRCm38)	F697S	probably damaging	Het
Adgrl2	A	T	3: 148,839,152 (GRCm38)	V769E	probably damaging	Het
Aldh7a1	A	T	18: 56,548,494 (GRCm38)	F173L	probably null	Het
Bcl3	G	T	7: 19,811,580 (GRCm38)	C208*	probably null	Het
Bmal1	A	G	7: 113,303,406 (GRCm38)	I421V	possibly damaging	Het
Casz1	T	C	4: 148,952,335 (GRCm38)	S1685P	unknown	Het
Cep250	A	G	2: 155,991,525 (GRCm38)	E1789G	probably damaging	Het
Cep76	A	T	18: 67,626,640 (GRCm38)	D334E	probably benign	Het
Clca3b	A	T	3: 144,825,458 (GRCm38)		probably null	Het
Col9a3	A	G	2: 180,606,478 (GRCm38)	S208G	probably benign	Het
Ddx47	T	C	6: 135,021,505 (GRCm38)	V388A	probably benign	Het
Dync1h1	C	T	12: 110,632,899 (GRCm38)	A1896V	possibly damaging	Het
Eif2ak2	T	A	17: 78,858,534 (GRCm38)	R411S	probably benign	Het
F7	A	G	8: 13,034,774 (GRCm38)	T267A	probably benign	Het
Fras1	C	A	5: 96,700,242 (GRCm38)	D1770E	probably benign	Het
G2e3	T	A	12: 51,365,337 (GRCm38)	Y387N	probably benign	Het
Hspg2	C	T	4: 137,529,418 (GRCm38)	L1491F	probably damaging	Het
Ighv3-4	T	C	12: 114,253,640 (GRCm38)	I110M	probably benign	Het
Itgb5	T	A	16: 33,844,997 (GRCm38)	C28S	probably damaging	Het
Itprid2	A	G	2: 79,641,998 (GRCm38)	N132S	probably benign	Het
Kbtbd11	C	A	8: 15,028,578 (GRCm38)	N392K	probably damaging	Het
Kcnmb4	A	G	10: 116,473,284 (GRCm38)	S80P	possibly damaging	Het
Kif21a	C	T	15: 90,970,833 (GRCm38)	C721Y	probably benign	Het
Kirrel1	C	T	3: 87,089,151 (GRCm38)	M380I	probably null	Het
Klrc3	T	C	6: 129,639,162 (GRCm38)	M189V	probably benign	Het
Macf1	T	A	4: 123,475,091 (GRCm38)	E394V	possibly damaging	Het
Mrgprb4	C	T	7: 48,198,701 (GRCm38)	G160R	possibly damaging	Het
Myb	A	G	10: 21,152,617 (GRCm38)	S116P	probably damaging	Het
Nf2	G	A	11: 4,780,613 (GRCm38)	Q513*	probably null	Het
Or11g27	T	C	14: 50,533,759 (GRCm38)	C116R	possibly damaging	Het
Or12k8	C	A	2: 37,084,930 (GRCm38)	V273F	probably benign	Het
Patj	T	G	4: 98,650,454 (GRCm38)	C210W	possibly damaging	Het
Pde3b	A	G	7: 114,416,287 (GRCm38)	H246R	probably benign	Het
Pnp2	A	G	14: 50,959,625 (GRCm38)	H56R	probably benign	Het
Prkg1	A	G	19: 30,569,229 (GRCm38)		probably benign	Het
Rhbdf1	C	T	11: 32,216,236 (GRCm38)	S8N	probably damaging	Het
Rimbp3	A	G	16: 17,209,692 (GRCm38)	K327E	possibly damaging	Het
Rnf219	A	G	14: 104,479,257 (GRCm38)	V560A	probably benign	Het
Rsph6a	T	A	7: 19,067,078 (GRCm38)		probably null	Het
Ryr2	T	C	13: 11,649,812 (GRCm38)	N3535S	probably benign	Het
Ston1	T	G	17: 88,637,008 (GRCm38)	V614G	probably damaging	Het
Svep1	T	A	4: 58,138,695 (GRCm38)	T466S	possibly damaging	Het
Tas2r109	A	T	6: 132,980,181 (GRCm38)	I262N	probably benign	Het
Tmtc1	T	C	6: 148,355,098 (GRCm38)		probably benign	Het
Tshz2	G	A	2: 169,884,938 (GRCm38)	E16K	possibly damaging	Het
Ufsp2	T	A	8: 45,985,465 (GRCm38)	S193R	possibly damaging	Het
Ugt2b5	C	A	5: 87,139,763 (GRCm38)	E182*	probably null	Het
Usp43	A	G	11: 67,891,464 (GRCm38)	V376A	probably benign	Het
Utp15	A	T	13: 98,259,247 (GRCm38)	F76I	possibly damaging	Het
Wdr62	A	C	7: 30,242,248 (GRCm38)	L1141R	probably damaging	Het
Zfp418	T	A	7: 7,172,162 (GRCm38)	M18K	probably benign	Het

Other mutations in Nmnat3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03406:Nmnat3	APN	9	98,399,477 (GRCm38)	missense	probably damaging	1.00
PIT4466001:Nmnat3	UTSW	9	98,410,253 (GRCm38)	missense	probably benign	0.39
R1564:Nmnat3	UTSW	9	98,354,166 (GRCm38)	critical splice donor site	probably null
R1780:Nmnat3	UTSW	9	98,354,111 (GRCm38)	missense	probably damaging	1.00
R1832:Nmnat3	UTSW	9	98,399,468 (GRCm38)	missense	probably damaging	0.97
R1981:Nmnat3	UTSW	9	98,410,299 (GRCm38)	missense	possibly damaging	0.93
R3111:Nmnat3	UTSW	9	98,399,480 (GRCm38)	missense	probably damaging	1.00
R3711:Nmnat3	UTSW	9	98,410,223 (GRCm38)	missense	probably damaging	1.00
R7055:Nmnat3	UTSW	9	98,410,233 (GRCm38)	missense	probably benign	0.00
R7948:Nmnat3	UTSW	9	98,399,482 (GRCm38)	missense	probably benign	0.02
R8032:Nmnat3	UTSW	9	98,410,218 (GRCm38)	missense	probably benign	0.01
R8323:Nmnat3	UTSW	9	98,410,223 (GRCm38)	missense	probably damaging	1.00
Z1177:Nmnat3	UTSW	9	98,399,542 (GRCm38)	missense	probably benign	0.11

Predicted Primers

PCR Primer
(F):5'- TTAACCCGAAGCCATGAGG -3'
(R):5'- TGATGTAGGTGATGACGGCC -3'

Sequencing Primer
(F):5'- CCATGAGGCTGCAATGATTAC -3'
(R):5'- AGGAGGTACTTCACGCTCTG -3'

Posted On

2015-07-07