Mutagenetix > Incidental Mutation

Incidental Mutation 'R8480:Nmnat1'

657468

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

067924-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8480 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

149552029-149569659 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 149557827 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 72 (L72F)

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: L72F

PolyPhen 2 Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000030845
Gene: ENSMUSG00000028992
AA Change: L72F

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000105693
AA Change: L72F

PolyPhen 2 Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000101318
Gene: ENSMUSG00000028992
AA Change: L72F

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000119921
AA Change: L72F

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000113156
Gene: ENSMUSG00000028992
AA Change: L72F

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: 99.7%
20x: 99.0%

Validation Efficiency

98% (53/54)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acvr1b	G	A	15: 101,108,720 (GRCm39)	V499M	possibly damaging	Het
Adam5	G	A	8: 25,294,475 (GRCm39)	Q375*	probably null	Het
Adgrf1	G	A	17: 43,606,055 (GRCm39)	E60K	probably benign	Het
Alb	T	C	5: 90,610,630 (GRCm39)	V70A	probably damaging	Het
Aph1b	T	A	9: 66,695,709 (GRCm39)		probably benign	Het
Aste1	G	A	9: 105,274,189 (GRCm39)	R143Q	possibly damaging	Het
Aste1	A	T	9: 105,274,995 (GRCm39)	T351S	probably damaging	Het
Bace2	T	A	16: 97,214,670 (GRCm39)	L286Q	probably damaging	Het
Bach1	G	A	16: 87,516,163 (GRCm39)	G235R	probably damaging	Het
Bpnt2	C	T	4: 4,769,376 (GRCm39)	M246I	probably benign	Het
Brwd1	A	T	16: 95,848,630 (GRCm39)	H516Q	probably damaging	Het
Cc2d2a	C	A	5: 43,842,486 (GRCm39)		probably null	Het
Cdh22	T	A	2: 164,988,646 (GRCm39)	E236D	probably benign	Het
Celsr1	G	T	15: 85,917,286 (GRCm39)	S229*	probably null	Het
Celsr2	T	A	3: 108,306,218 (GRCm39)	T2029S	probably benign	Het
Col11a1	A	G	3: 113,975,043 (GRCm39)	D1234G	probably benign	Het
Cplane1	C	A	15: 8,216,942 (GRCm39)	P720Q	possibly damaging	Het
Cpt2	A	G	4: 107,764,957 (GRCm39)	I269T	probably damaging	Het
Dcaf7	T	A	11: 105,945,619 (GRCm39)	S323T	probably benign	Het
Ddias	G	T	7: 92,508,608 (GRCm39)	Q436K	probably benign	Het
Dlec1	G	A	9: 118,972,335 (GRCm39)		probably null	Het
Dock5	T	A	14: 68,073,859 (GRCm39)	I294F	probably benign	Het
Fat2	A	T	11: 55,173,794 (GRCm39)	D2306E	possibly damaging	Het
Gm4787	T	A	12: 81,424,280 (GRCm39)	D626V	probably damaging	Het
Gm6563	A	G	19: 23,653,290 (GRCm39)	T27A	probably benign	Het
Hadhb	T	C	5: 30,373,568 (GRCm39)		probably null	Het
Hsph1	A	T	5: 149,551,029 (GRCm39)	W406R	probably null	Het
Ighv1-66	C	T	12: 115,557,002 (GRCm39)	G27R	possibly damaging	Het
Krt26	T	C	11: 99,228,426 (GRCm39)	E102G	probably damaging	Het
Krt34	T	A	11: 99,930,971 (GRCm39)		probably null	Het
Krt36	T	C	11: 99,993,635 (GRCm39)	D401G	possibly damaging	Het
Loxhd1	G	A	18: 77,518,827 (GRCm39)	G326S	probably damaging	Het
Lrrc8b	A	G	5: 105,633,802 (GRCm39)	N758S	probably damaging	Het
Mrtfb	A	T	16: 13,202,056 (GRCm39)		probably null	Het
Muc4	C	T	16: 32,574,421 (GRCm39)	T957I	probably benign	Het
Naip5	T	C	13: 100,358,743 (GRCm39)	Y831C	probably damaging	Het
Nfatc1	A	T	18: 80,678,859 (GRCm39)	V829E	probably benign	Het
Or4f14d	A	T	2: 111,960,330 (GRCm39)	D275E	possibly damaging	Het
Pcdh7	T	A	5: 58,286,407 (GRCm39)	V1161E	probably damaging	Het
Raver1	A	G	9: 21,001,576 (GRCm39)	Y86H	probably benign	Het
Recql4	G	T	15: 76,588,705 (GRCm39)	H1035Q	probably benign	Het
Sgsm1	A	T	5: 113,411,284 (GRCm39)	M814K	probably benign	Het
Sh3d19	T	G	3: 85,992,184 (GRCm39)	W71G	probably benign	Het
Sidt1	T	C	16: 44,065,529 (GRCm39)	Y759C	probably damaging	Het
Spg11	G	T	2: 121,943,560 (GRCm39)	D197E	probably damaging	Het
Sppl2b	TGTCACAGGT	TGT	10: 80,701,903 (GRCm39)		probably null	Het
Ssc5d	A	T	7: 4,939,328 (GRCm39)	D588V	probably damaging	Het
Supt20	C	A	3: 54,614,537 (GRCm39)	T181K	probably damaging	Het
Szt2	A	T	4: 118,244,015 (GRCm39)	S1363R	probably benign	Het
Tbcel	G	A	9: 42,375,169 (GRCm39)		probably null	Het
Ube2e3	T	C	2: 78,749,158 (GRCm39)	L169P	probably damaging	Het
Wrn	A	G	8: 33,778,796 (GRCm39)	F595S	probably benign	Het
Zfp473	G	T	7: 44,382,323 (GRCm39)	P670Q	probably damaging	Het
Zw10	C	T	9: 48,986,299 (GRCm39)	A660V	probably benign	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
R8478:Nmnat1	UTSW	4	149,557,841 (GRCm39)	missense	possibly damaging	0.67
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'- TTGCTTGCTCTATGGCCTG -3'
(R):5'- GTTCCGATTGCCTATTAAAAGGGG -3'

Sequencing Primer
(F):5'- CTGGAACTCACTTTGTAGACCAGG -3'
(R):5'- CATCACTCTTTACCCAGGA -3'

Posted On

2021-01-18