Mutagenetix > Incidental Mutation

Incidental Mutation 'R7471:Nmnat1'

579185

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

045545-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7471 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

149552029-149569659 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 149557758 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 95 (T95S)

Ref Sequence

ENSEMBL: ENSMUSP00000030845 (fasta)

Gene Model

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

AlphaFold

Q9EPA7

Predicted Effect

probably damaging
Transcript: ENSMUST00000030845
AA Change: T95S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000030845
Gene: ENSMUSG00000028992
AA Change: T95S

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000105693
AA Change: T95S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000101318
Gene: ENSMUSG00000028992
AA Change: T95S

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000119921
AA Change: T95S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000113156
Gene: ENSMUSG00000028992
AA Change: T95S

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: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (73/73)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	T	A	11: 84,168,608 (GRCm39)		probably null	Het
Ace	T	C	11: 105,864,308 (GRCm39)	V483A	probably damaging	Het
Akap13	G	A	7: 75,380,213 (GRCm39)	R462H	probably damaging	Het
Angptl2	A	T	2: 33,133,751 (GRCm39)	T358S	possibly damaging	Het
Apoh	C	T	11: 108,298,131 (GRCm39)	P144S	probably damaging	Het
Arid1a	A	G	4: 133,408,355 (GRCm39)	W1666R	unknown	Het
Asap3	A	G	4: 135,960,957 (GRCm39)	H223R	possibly damaging	Het
Bcl2l12	A	G	7: 44,645,977 (GRCm39)	S81P	possibly damaging	Het
Brd10	A	C	19: 29,707,139 (GRCm39)		probably null	Het
C8a	A	G	4: 104,674,822 (GRCm39)	S550P	probably benign	Het
Cacna2d1	C	G	5: 16,139,973 (GRCm39)		probably benign	Het
Ccdc170	A	G	10: 4,470,803 (GRCm39)	T216A	probably benign	Het
Chd7	A	T	4: 8,859,197 (GRCm39)	K2429I	probably damaging	Het
Chd8	T	C	14: 52,441,569 (GRCm39)	N2181S	probably benign	Het
Cimap1c	C	T	9: 56,759,783 (GRCm39)		probably null	Het
Clip3	T	C	7: 30,001,377 (GRCm39)	V342A	possibly damaging	Het
Cst5	C	T	2: 149,247,496 (GRCm39)	L71F	probably benign	Het
Cyp20a1	T	C	1: 60,393,799 (GRCm39)	F139S	probably damaging	Het
Dclre1b	T	A	3: 103,710,430 (GRCm39)	R494W	probably benign	Het
Dicer1	A	G	12: 104,660,969 (GRCm39)	I1695T	probably damaging	Het
Dnah7a	A	G	1: 53,458,858 (GRCm39)	L3760P	probably damaging	Het
Dock1	A	G	7: 134,765,072 (GRCm39)	D1688G	possibly damaging	Het
Drosha	G	A	15: 12,889,742 (GRCm39)	R870Q	probably damaging	Het
Dsg2	G	T	18: 20,713,675 (GRCm39)	M215I	probably benign	Het
Dst	A	T	1: 34,233,651 (GRCm39)	D3453V	possibly damaging	Het
Epha10	A	T	4: 124,796,365 (GRCm39)	Y358F		Het
Ermp1	A	T	19: 29,590,054 (GRCm39)	M853K	probably benign	Het
Hace1	T	G	10: 45,577,075 (GRCm39)	I823S	probably benign	Het
Hectd3	A	T	4: 116,853,785 (GRCm39)	Y227F	probably benign	Het
Hells	A	G	19: 38,945,501 (GRCm39)	N580S	probably benign	Het
Igkv12-44	A	G	6: 69,791,718 (GRCm39)	F82L	probably damaging	Het
Inpp5d	A	G	1: 87,623,122 (GRCm39)	D405G	probably damaging	Het
Itsn2	G	A	12: 4,758,198 (GRCm39)	R1508H	probably benign	Het
Limk1	A	T	5: 134,686,825 (GRCm39)		probably null	Het
Lingo1	T	A	9: 56,528,167 (GRCm39)	K147*	probably null	Het
Ltn1	T	C	16: 87,194,787 (GRCm39)	S1371G	probably benign	Het
Mab21l1	A	G	3: 55,691,307 (GRCm39)	D298G	possibly damaging	Het
Macf1	A	T	4: 123,366,082 (GRCm39)	V2893E	probably benign	Het
Mapk8ip1	T	C	2: 92,219,489 (GRCm39)	D114G	probably benign	Het
Med15	A	T	16: 17,540,729 (GRCm39)	W6R	probably benign	Het
Mrps34	T	C	17: 25,114,431 (GRCm39)	L97P	probably damaging	Het
Myrfl	A	T	10: 116,697,417 (GRCm39)	F36I	possibly damaging	Het
Nifk	G	A	1: 118,260,204 (GRCm39)	S253N	probably damaging	Het
Oasl1	T	A	5: 115,073,985 (GRCm39)	I298N	probably damaging	Het
Or51a8	A	G	7: 102,549,760 (GRCm39)	Y62C	probably benign	Het
Or56b35	T	G	7: 104,963,712 (GRCm39)	L167R	probably damaging	Het
Or8g37	A	T	9: 39,731,423 (GRCm39)	M163L	probably benign	Het
Polr2b	C	T	5: 77,468,913 (GRCm39)	R230*	probably null	Het
Prkra	T	A	2: 76,477,545 (GRCm39)	E53D	probably benign	Het
Rasgrp4	T	A	7: 28,845,405 (GRCm39)	L376Q	probably damaging	Het
Rwdd3	A	G	3: 120,964,961 (GRCm39)	S65P	probably benign	Het
Satb1	G	A	17: 52,090,029 (GRCm39)	P273S	probably damaging	Het
Scg3	T	C	9: 75,589,374 (GRCm39)	E93G	probably damaging	Het
Sf3a1	T	C	11: 4,117,724 (GRCm39)	F162S	possibly damaging	Het
Sorcs1	A	G	19: 50,250,701 (GRCm39)	Y377H	probably damaging	Het
Sptbn4	G	A	7: 27,108,439 (GRCm39)	A661V	possibly damaging	Het
Stk36	A	G	1: 74,673,479 (GRCm39)	N996S	unknown	Het
Tbca	A	T	13: 94,968,923 (GRCm39)	I37F	probably damaging	Het
Tc2n	A	T	12: 101,672,716 (GRCm39)	V75E	probably damaging	Het
Tdrkh	A	T	3: 94,333,263 (GRCm39)	S243C	probably damaging	Het
Tjp1	T	C	7: 64,964,438 (GRCm39)	D911G	probably damaging	Het
Tmbim6	A	G	15: 99,299,324 (GRCm39)		probably benign	Het
Tob1	T	A	11: 94,104,708 (GRCm39)	D81E	probably benign	Het
Ttpal	T	A	2: 163,448,945 (GRCm39)		probably null	Het
Usp37	A	T	1: 74,534,787 (GRCm39)		probably null	Het
Vmn1r235	A	G	17: 21,482,658 (GRCm39)	I328V	probably benign	Het
Vmn1r28	T	A	6: 58,242,850 (GRCm39)	L231*	probably null	Het
Xirp1	G	A	9: 119,848,176 (GRCm39)	Q236*	probably null	Het
Zc3h7b	A	G	15: 81,664,682 (GRCm39)	T514A	probably damaging	Het
Zfp524	A	G	7: 5,021,200 (GRCm39)	I243V	probably benign	Het
Zfp655	T	A	5: 145,181,542 (GRCm39)	Y467N	possibly damaging	Het
Zfp985	A	T	4: 147,667,388 (GRCm39)	K85N	possibly damaging	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
R7602:Nmnat1	UTSW	4	149,557,808 (GRCm39)	missense	probably benign
R8478:Nmnat1	UTSW	4	149,557,841 (GRCm39)	missense	possibly damaging	0.67
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'- TTGCTTGCTCTATGGCCTGC -3'
(R):5'- TCTTTACCCAGGAAAATACAGTGT -3'

Sequencing Primer
(F):5'- TTGAGGTTTCAGAAGCCCAC -3'
(R):5'- GTTATCAAAGGCATTATCTCACCGG -3'

Posted On

2019-10-07