Mutagenetix > Incidental Mutation

Incidental Mutation 'R8478:Nmnat1'

657356

Institutional Source

Beutler Lab

Gene Symbol

Nmnat1

Ensembl Gene

ENSMUSG00000028992

Gene Name

nicotinamide nucleotide adenylyltransferase 1

Synonyms

D4Cole1e, 2610529L11Rik, nicotinamide mononucleotide adenylyl transferase, nmnat, 5730441G13Rik

MMRRC Submission

067922-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8478 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

149552029-149569659 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 149557841 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 67 (I67T)

Ref Sequence

ENSEMBL: ENSMUSP00000113156 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030845] [ENSMUST00000105693] [ENSMUST00000119921] [ENSMUST00000126896] [ENSMUST00000210722] [ENSMUST00000229840]

AlphaFold

Q9EPA7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000030845
AA Change: I67T

PolyPhen 2 Score 0.522 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000030845
Gene: ENSMUSG00000028992
AA Change: I67T

Domain	Start	End	E-Value	Type
Pfam:CTP_transf_2	12	230	2.5e-34	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000105693
AA Change: I67T

PolyPhen 2 Score 0.522 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000101318
Gene: ENSMUSG00000028992
AA Change: I67T

Domain	Start	End	E-Value	Type
Pfam:CTP_transf_like	12	230	9.5e-32	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000119921
AA Change: I67T

PolyPhen 2 Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000113156
Gene: ENSMUSG00000028992
AA Change: I67T

Domain	Start	End	E-Value	Type
Pfam:CTP_transf_2	12	140	9.8e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000126896

Predicted Effect

probably benign
Transcript: ENSMUST00000210722

Predicted Effect

probably benign
Transcript: ENSMUST00000229840

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

100% (66/66)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an enzyme which catalyzes a key step in the biosynthesis of nicotinamide adenine dinucleotide (NAD). The encoded enzyme is one of several nicotinamide nucleotide adenylyltransferases, and is specifically localized to the cell nucleus. Activity of this protein leads to the activation of a nuclear deacetylase that functions in the protection of damaged neurons. Mutations in this gene have been associated with Leber congenital amaurosis 9. Alternative splicing results in multiple transcript variants. Pseudogenes of this gene are located on chromosomes 1, 3, 4, 14, and 15. [provided by RefSeq, Jul 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit complete prenatal lethality. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl11	A	T	9: 107,805,844 (GRCm39)	I56F	possibly damaging	Het
Adgrl3	G	T	5: 81,942,348 (GRCm39)	R1357L	possibly damaging	Het
Alpk1	T	A	3: 127,522,961 (GRCm39)	D27V	probably damaging	Het
Als2	T	C	1: 59,225,175 (GRCm39)	E986G	probably damaging	Het
Ankle2	T	A	5: 110,400,818 (GRCm39)	L717Q	possibly damaging	Het
Arl8b	A	G	6: 108,760,285 (GRCm39)	T24A	possibly damaging	Het
Atp2a1	A	G	7: 126,047,502 (GRCm39)	I718T	probably damaging	Het
Atp6v0e2	T	A	6: 48,517,031 (GRCm39)	N70K	probably benign	Het
Bcl11a	A	G	11: 24,115,086 (GRCm39)	S810G	probably damaging	Het
Bcl2a1d	T	G	9: 88,605,488 (GRCm39)	*173S	probably null	Het
Bltp1	A	T	3: 37,087,426 (GRCm39)	D511V	possibly damaging	Het
Cacna1g	A	G	11: 94,317,278 (GRCm39)	Y1494H	probably damaging	Het
Ccdc7a	T	C	8: 129,487,850 (GRCm39)	K186E	possibly damaging	Het
Cfap43	T	C	19: 47,764,515 (GRCm39)	I817V	probably benign	Het
Chd5	C	T	4: 152,441,147 (GRCm39)	R196*	probably null	Het
Chsy1	C	T	7: 65,820,748 (GRCm39)	H328Y	probably benign	Het
Clcn3	A	T	8: 61,372,522 (GRCm39)	S713T	probably benign	Het
Csrnp3	A	T	2: 65,708,400 (GRCm39)		probably null	Het
Dnhd1	A	G	7: 105,332,001 (GRCm39)	N86S	probably benign	Het
Epha3	T	C	16: 63,593,444 (GRCm39)	T215A	probably damaging	Het
Fgf1	T	C	18: 38,987,944 (GRCm39)		probably null	Het
Fosl1	T	C	19: 5,504,947 (GRCm39)	S145P	probably damaging	Het
Frem3	T	A	8: 81,338,187 (GRCm39)	V160E	probably damaging	Het
Galk2	A	T	2: 125,771,505 (GRCm39)	K177*	probably null	Het
Gria1	T	C	11: 57,200,668 (GRCm39)	Y782H	probably damaging	Het
Gria4	C	T	9: 4,793,882 (GRCm39)	E59K	probably damaging	Het
Ighv1-11	A	G	12: 114,575,919 (GRCm39)	Y99H	possibly damaging	Het
Insm2	A	T	12: 55,647,330 (GRCm39)	Y358F	probably damaging	Het
Marveld3	C	T	8: 110,688,600 (GRCm39)	G47D	probably damaging	Het
Mthfd1l	A	G	10: 4,098,064 (GRCm39)	D967G	probably damaging	Het
Nav2	G	T	7: 49,111,733 (GRCm39)	M746I	probably damaging	Het
Niban1	C	A	1: 151,512,263 (GRCm39)	T55K	possibly damaging	Het
Nub1	G	T	5: 24,906,422 (GRCm39)	R316L	probably benign	Het
Nxn	A	G	11: 76,164,869 (GRCm39)	V214A	probably damaging	Het
Or52n5	C	A	7: 104,588,477 (GRCm39)	S248Y	probably benign	Het
Pelp1	A	T	11: 70,285,146 (GRCm39)	D907E	unknown	Het
Pik3c2a	A	T	7: 116,017,584 (GRCm39)	S58T	probably damaging	Het
Pik3ca	A	G	3: 32,505,997 (GRCm39)	N703S	probably benign	Het
Polr3c	G	A	3: 96,624,066 (GRCm39)		probably benign	Het
Pon1	C	T	6: 5,185,318 (GRCm39)	G61R	probably damaging	Het
Pou2f1	A	T	1: 165,759,287 (GRCm39)	M1K	probably null	Het
Prkdc	T	A	16: 15,466,788 (GRCm39)	C90S	probably benign	Het
Prokr1	A	G	6: 87,558,330 (GRCm39)	Y352H	probably benign	Het
Rhod	C	T	19: 4,476,719 (GRCm39)	R134H	probably damaging	Het
Rufy3	C	T	5: 88,762,895 (GRCm39)	R110W	probably damaging	Het
Sema4c	A	T	1: 36,590,871 (GRCm39)	M460K	probably benign	Het
Slc46a3	T	C	5: 147,815,963 (GRCm39)	S455G	probably benign	Het
Smyd1	A	T	6: 71,193,811 (GRCm39)	H371Q	probably damaging	Het
Steap1	A	G	5: 5,786,432 (GRCm39)	M335T	probably benign	Het
Suox	A	G	10: 128,506,921 (GRCm39)	V369A	probably damaging	Het
Thbs2	T	C	17: 14,900,666 (GRCm39)	I514V	probably benign	Het
Tie1	A	T	4: 118,341,979 (GRCm39)		probably null	Het
Tmem131l	T	C	3: 83,805,769 (GRCm39)	E1558G	probably damaging	Het
Tpcn1	G	T	5: 120,698,386 (GRCm39)	H45Q	probably benign	Het
Ush1c	A	G	7: 45,870,857 (GRCm39)	S327P	probably damaging	Het
Ush2a	G	A	1: 188,175,429 (GRCm39)	V1176M	possibly damaging	Het
Utrn	A	G	10: 12,524,892 (GRCm39)	M2197T	probably benign	Het
Vmn1r50	G	T	6: 90,085,071 (GRCm39)	C272F	probably benign	Het
Vmn2r10	A	T	5: 109,143,636 (GRCm39)	N771K	probably damaging	Het
Vmn2r2	A	T	3: 64,024,257 (GRCm39)	F691I	possibly damaging	Het
Vmn2r53	T	C	7: 12,340,281 (GRCm39)	Q64R	probably benign	Het
Vmn2r95	G	T	17: 18,672,544 (GRCm39)	L760F	probably damaging	Het
Wdr97	T	C	15: 76,247,629 (GRCm39)		probably null	Het
Xdh	C	A	17: 74,213,053 (GRCm39)	E863D	probably benign	Het
Ykt6	A	G	11: 5,912,407 (GRCm39)	Y120C	possibly damaging	Het
Zranb2	A	G	3: 157,251,745 (GRCm39)	*321W	probably null	Het

Other mutations in Nmnat1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01577:Nmnat1	APN	4	149,554,135 (GRCm39)	missense	possibly damaging	0.94
IGL02943:Nmnat1	APN	4	149,557,745 (GRCm39)	missense	probably damaging	1.00
R0164:Nmnat1	UTSW	4	149,553,607 (GRCm39)	missense	possibly damaging	0.78
R0164:Nmnat1	UTSW	4	149,553,607 (GRCm39)	missense	possibly damaging	0.78
R4363:Nmnat1	UTSW	4	149,557,902 (GRCm39)	missense	probably benign	0.07
R4583:Nmnat1	UTSW	4	149,553,608 (GRCm39)	missense	possibly damaging	0.55
R4835:Nmnat1	UTSW	4	149,557,802 (GRCm39)	missense	possibly damaging	0.92
R4991:Nmnat1	UTSW	4	149,553,584 (GRCm39)	missense	possibly damaging	0.94
R5073:Nmnat1	UTSW	4	149,553,595 (GRCm39)	missense	probably benign	0.01
R5850:Nmnat1	UTSW	4	149,554,124 (GRCm39)	nonsense	probably null
R7249:Nmnat1	UTSW	4	149,554,099 (GRCm39)	missense	probably null	0.06
R7471:Nmnat1	UTSW	4	149,557,758 (GRCm39)	missense	probably damaging	1.00
R7602:Nmnat1	UTSW	4	149,557,808 (GRCm39)	missense	probably benign
R8480:Nmnat1	UTSW	4	149,557,827 (GRCm39)	missense	possibly damaging	0.95
R9036:Nmnat1	UTSW	4	149,553,482 (GRCm39)	missense	probably damaging	0.99
R9742:Nmnat1	UTSW	4	149,553,338 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AGTCCTGCACAGTCAGATGC -3'
(R):5'- ACATCCACCAGAGTTGTAAGTC -3'

Sequencing Primer
(F):5'- CTGCACAGTCAGATGCAGAACTG -3'
(R):5'- CAGTTCCGATTGCCTATTAAAAGGGG -3'

Posted On

2021-01-18